ASD - Nurse CEUs Online - No Test Required ... · Web viewThis may explain why people who have ASD...

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Jassin M. Jouria, MD Dr. Jassin M. Jouria is a medical doctor, professor of academic medicine, and medical author. He graduated from Ross University School of Medicine and has completed his clinical clerkship training in various teaching hospitals throughout New York, including King’s County Hospital Center and Brookdale Medical Center, among others. Dr. Jouria has passed all USMLE medical board exams, and has served as a test prep tutor and instructor for Kaplan. He has developed several medical courses and curricula for a variety of educational institutions. Dr. Jouria has also served on multiple levels in the academic field including faculty member and Department Chair. Dr. Jouria continues to serves as a Subject Matter Expert for several continuing education organizations covering multiple basic medical sciences. He has also developed several continuing medical education courses covering various topics in clinical medicine. Recently, Dr. Jouria has been contracted by the University of Miami/Jackson Memorial Hospital’s Department of Surgery to develop an e-module training series for trauma patient management. Dr. Jouria is currently authoring an academic textbook on Human Anatomy & Physiology. ABSTRACT The U.S. Center for Disease Control estimates that 1 in 88 children are on the autism spectrum; meaning some degree of a complex brain disorder exists, characterized by difficulties in Nursece4less.com 1 AUTISM SPECTRUM DISORDER

Transcript of ASD - Nurse CEUs Online - No Test Required ... · Web viewThis may explain why people who have ASD...

Jassin M. Jouria, MD

Dr. Jassin M. Jouria is a medical doctor, professor of

academic medicine, and medical author. He graduated from

Ross University School of Medicine and has completed his

clinical clerkship training in various teaching hospitals

throughout New York, including King’s County Hospital Center and Brookdale Medical Center,

among others. Dr. Jouria has passed all USMLE medical board exams, and has served as a test

prep tutor and instructor for Kaplan. He has developed several medical courses and curricula for a

variety of educational institutions. Dr. Jouria has also served on multiple levels in the academic field

including faculty member and Department Chair. Dr. Jouria continues to serves as a Subject Matter

Expert for several continuing education organizations covering multiple basic medical sciences. He

has also developed several continuing medical education courses covering various topics in clinical

medicine. Recently, Dr. Jouria has been contracted by the University of Miami/Jackson Memorial

Hospital’s Department of Surgery to develop an e-module training series for trauma patient

management. Dr. Jouria is currently authoring an academic textbook on Human Anatomy &

Physiology.

ABSTRACT

The U.S. Center for Disease Control estimates that 1 in 88 children are on the autism

spectrum; meaning some degree of a complex brain disorder exists, characterized by

difficulties in social interaction and communication, as well as a tendency toward

repetitive behaviors. In its mildest form, autism spectrum disorder (ASD) can present

minor communication challenges in children who are at or above normal intelligence. In

its most severe form, comprehensive cognitive deficits and a total lack of

communication create permanent dependence. Currently, there is no cure for ASD, and

the focus is on research to develop effective management and prevention strategies.

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AUTISM SPECTRUM DISORDER

Continuing Nursing Education Course Director & Planners

William A. Cook, PhD, Director, Douglas Lawrence, MS, Webmaster,

Susan DePasquale, CGRN, MSN, FPMHNP-BC, Lead Nurse Planner

Accreditation Statement

This activity has been planned and implemented in accordance with the policies of

NurseCe4Less.com and the continuing nursing education requirements of the American

Nurses Credentialing Center's Commission on Accreditation for registered nurses.

Credit Designation

This educational activity is credited for 12.5 hours. Nurses may only claim credit

commensurate with the credit awarded for completion of this course activity.

Course Author & Planner Disclosure Policy Statements

It is the policy of NurseCe4Less.com to ensure objectivity, transparency, and best

practice for all nursing educational activities. All authors and course planners

participating in the planning or implementation of an educational activity are expected to

disclose to course participants any relevant conflict of interest that may arise.

Statement of Need

Nurses often participate on an autism treatment team, involved in the diagnosis and

ongoing health care of the individual child or adult with ASD as well as their families.

Mental health and school nurses are required to perform an evidence-based evaluation

and treatment plan to promote the best quality of life for the individual with ASD.

Course Purpose

This course will provide advanced learning for nurses interested in the diagnosis and

treatment plan for the individual with autism, and for their families.

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Learning Objectives

Identify the disorders included within the ASD.

Explain the historical etiology of autism.

Identify domains that are evaluated when diagnosing ASD according to the DSM-5.

Identify common characteristics of ASD.

Describe the gradual onset course and the regression course of ASD.

Explain the effects of early intervention in ASD patients.

Describe risk factors that may influence the occurrence of ASD.

Describe common neuroanatomical abnormalities that may occur in ASD patients.

Define the two levels of initial diagnosis for ASD.

List common psychological assessment tools for diagnosis ASD.

List common co-morbidities of ASD.

Explain the primary goals of ASD treatment.

Explain the controversy relating to autism and vaccines.

Target AudienceAdvanced Practice Registered Nurses, Registered Nurses, Licensed Practical Nurses,

and Associates

Course Author & Director Disclosures

Jassin M. Jouria, MD, William S. Cook, PhD, Douglas Lawrence, MS,

Susan DePasquale, CGRN, MSN, FPMHNP-BC – all have no disclosures

Acknowledgement of Commercial Support

There is no commercial support for this course.

Activity Review Information

Reviewed by Susan DePasquale, CGRN, MSN, FPMHNP-BC.

Release Date: 1/1/2015 Termination Date: 10/24/2016 

Please take time to complete the self-assessment Knowledge Questions before reading the article. Opportunity to complete a self-assessment of knowledge learned will be

provided at the end of the course.

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1. The primary goals of ASD treatments are to:a. lessen deficits and family stresses

b. treatment through use of medication

c. educating family and other caregivers about unique challenges of an

individual with ASD

d. all of the above

2. True of False. ASD is understood to be the result of a combination of genetic and non-genetic factors.

a. True

b. False

3. Secondary ASD can be caused by:

a. Fragile X syndrome

b. Tuberculosis

c. Rett Syndrome

d. Answers a and c above

4. Rett syndrome predominantly affects:

a. males

b. females

c. individuals during adolescence

d. those of African descent

5. Repetitive behaviors in individuals with ASD can include:

a. arm and hand flapping

b. rocking or other unusual body movements

c. head banging

d. all of the above

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6. True or False. Pregnancy and increased risk of ASD with a combined diagnosis of ADHD or ADHD symptoms includes use of valproic acid.

a. True

b. False

7. Individuals with ASD often have ADHD-like symptoms, which include:

a. hyperactivity, distractibility, excitability, difficulty concentrating

b. impulsivity, short term memory loss, aggression, tension

c. distractibility, fatigue, poor concentration and insomnia

d. poor performance in school, conflict with peers, hyperactivity

8. True or False. Treatment for children with both ASD and anxiety is evolving and more research is needed on how to adapt traditional approaches with cognitive behavioral therapy.

a. True

b. False

9. Individuals with ASD thrive best in very well organized and highly structured environments, which include those that:a. promote a clear understanding of schedules

b. provide activities

c. establish expectations

d. all of the above

10.True or False. Treatment with SSRIs is uncommon for children with ASD.a. True

b. False

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INTRODUCTION

Autism Spectrum Disorders (ASD) encompass a group of developmental disorders

whose symptoms range on a continuum that runs from mild to severe in expression [1].

ASD is typically present early in life, anytime from infancy or early childhood; however,

in the new DSM-V, there are changes in place for diagnostic age criteria in that deficits

from ASD may not be detected until later on in life. This later detection may result from

lower social demands placed on an individual as a result of assistance from parents or

caregivers earlier on in life.

The onset of ASD has been intensively studied [2-4], and it is largely accepted that the

time of diagnosis may occur far after the time of onset. Additionally, the time between

where parents indicate that the child shows early signs or symptoms of ASD or

abnormal development and the time until diagnosis may be quite lengthy. It is important

to note here that detecting early signs of ASD has been indicated to be quite difficult [5].

This is why ASD is sometimes only diagnosed once a child is put into situations that

require social abilities, and a lack is seen in these situations.

More than 500,000 people in the United States have some form of diagnosed autism [6].

Autism may keep a child from forming effective relationships with other people, due in

part to an inability to properly interpret facial expressions or emotions. Children with

autism spectrum disorders may be resistant to cuddling or change, and they may play

alone or have delays in speech development. People with autism also frequently repeat

body movements or have extreme attachments to certain objects. However, there are

positive aspects to autism, such as the fact that many people with autism excel on

certain mental levels, such as counting and measuring, or at art, music, or memory.

The precise causes of ASD are not known. However, it is known that genetic factors

play a role in ASD. It is also known that non-genetic, environmental factors play a role in

the development of ASD. It is thought that ASD is the result of a combination of genetic

and non-genetic factors. What basically happens is that non-genetic, environmental

factors come into play to make those who are genetically susceptible to ASD more likely

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to develop ASD. ASD may then develop gradually, or the individual may experience

what is known as regression, where he or she may lose some or all of their acquired

skills. The loss of skills can happen suddenly or gradually. Overall, there are a number

of risk factors for ASD, including gender – boys are more likely than are girls to develop

ASD – genetics, certain prenatal and perinatal factors, neuroanatomical abnormalities

such as enlargement of the brain, and environmental factors.

There is no cure for ASD. The primary goals of ASD treatments are to lessen deficits

and to lessen family stresses. There are a number of ways to do these things, including

applied behavioral therapy, structured teaching, speech and language therapy, social

skills therapy, occupational therapy, and the use of medication. Additionally, educating

parents, caregivers, and siblings and providing these individuals with ways to cope with

the unique challenges that having an individual with ASD in the household brings helps

in alleviating the inevitable resulting family stress.

INCLUDED DISORDERS

AutismThe American Psychiatric Association has put forth a

new definition for autism as a part of the revisions made

for the new Diagnostic and Statistical Manual of Mental

Disorders (DSM). Autism will be seen as part of a

continuum of disorders termed autism spectrum disorder,

involving a range of disorders, such as autistic disorder,

Asperger’s syndrome, childhood disintegrative disorder,

and pervasive developmental disorder not otherwise specified. Dr. James Scully of the

APA has stated that the criteria will “lead to more accurate diagnosis and will help

physicians and therapists design better treatment interventions” [8].

Autistic disorder is also known as autism or mindblindness. This disorder generally

presents sometime in the first three years of life, and the child appears to live within its

own world. The child also appears to show little interest in other people and displays

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[7]

poor social skills. The focus of a child with autistic disorder is on a consistent routine,

with repetitive odd or peculiar behaviors. Children with autism frequently have problems

communicating, and they often will avoid making eye contact with others or will avoid

attaching to others.

Autistic disorder may be associated with a number of infirmities, including difficulties

with motor coordination and attention, intellectual disability, and physical health issues

such as gastrointestinal issues or sleep issues. However, despite difficulties, some

people with autistic disorder often excel in music, art, math, or with visual skills.

Autistic disorder seems to have roots in the early development of the brain, although the

most obvious signs and symptoms emerge between 2 – 3 years of age. Approximately

1 out of every 88 children in the United States will have an ASD; this has been a huge

increase in prevalence over the past 40 years. The increase is due in part to

improvements made in diagnostic tools as well as disease awareness. Another reason

for the increase may be environmental influence. Autistic disorder is much more

common in boys than it is in girls: approximately 1 out of every 54 boys and 1 out of

every 252 girls is diagnosed with an ASD in the U.S., with ASD affecting over 2 million

individuals in the U.S., and millions are affected worldwide.

There is no one cause for ASD, although a genetic predisposition appears to play a

role, as do environmental, or non-genetic, factors. Most cases of ASD appear to be the

result of a combination of both genetic and non-genetic factors, with environmental

stressors increasing the risk of development of ASD in children who already have a

genetic predisposition. The clearest evidence of these types of risk factors includes

events that happen before or during birth, such as maternal illness or birthing difficulties.

Asperger Syndrome

Asperger Syndrome is considered a sub-type of autism spectrum disorder. The cause of

Asperger Syndrome is unknown, and presents 4 times more frequently in boys than it

does in girls [9].

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Many consider Asperger syndrome to be the mildest form of autism; therefore, many

with Asperger’s are considered to be the highest functioning autistic individuals.

However, even though many individuals with Asperger’s may be high functioning, they

still share certain key symptoms with others who suffer from autism spectrum disorders,

such as a lack of normal social conversation, lack of normal eye contact, deficits in body

language and facial expression, and difficulties in maintaining social relationships.

Those with Asperger syndrome also frequently engage in repetitive behaviors and may

become excessively attached to objects or routines.

The prevalence of Asperger syndrome is not well known. It is not even well recognized

prior to the age of 5 or 6, primarily because the individual has normal language

development. Asperger syndrome occurs in all ethnic groups and affects every age

group [10]. Additionally, it does not just affect the child during childhood; studies indicate

that children who suffer from Asperger syndrome carry their problems with them into

adulthood and some develop further psychiatric problems in adulthood.

Some of the common signs or symptoms of those with Asperger syndrome are having

monotone speech or lack of rhythm in speaking. Additionally, an individual with

Asperger syndrome may have problems modulating the volume in his or her voice and

may need to be continually reminded to talk more softly. Individuals with Asperger’s are

not generally isolated from the rest of the world as a result of their own withdrawal, but

rather they are isolated because they have poor social skills or because their interests

are narrow. For example, they may approach conversations by speaking only about

their own very narrow interests, making a normal conversation difficult.

Current research [10] indicates that brain abnormalities may be to blame, as some

research has indicated that those children who have Asperger syndrome have

differences in structure and function than do those children who are not affected.

Researchers posit that these differences could be caused by an abnormal migration of

embryonic cells that in turn affects brain structure in early childhood. This then goes on

to affect the brain circuitry that affects thought and behavior. Scientists have also

suspected that there is a strong genetic component to Asperger syndrome, although no

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specific gene for Asperger syndrome has ever been identified. Recent research has

indicated that Asperger syndrome is most likely the result of a grouping of genes in

which variations or deletions cause the individual to become vulnerable to the

development of Asperger syndrome. When combined with environmental factors, this

also determines the severity and the specific symptoms that each individual suffers.

Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS)

Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) is sometimes

simply called pervasive developmental disorder, or may be used interchangeably with

autism spectrum disorder. There are some health professionals who refer to PDD-NOS

as sub threshold autism. PDD-NOS is a relatively new diagnosis, having been around

for only about 15 years. PDD-NOS is the diagnosis that has come to be commonly

applied to those who are on the autism spectrum but do not generally meet the criteria

for some other autism spectrum disorder in full, such as Asperger Syndrome.

Defining features of PDD-NOS are challenges in language development and social

functioning. Repetitive behaviors are frequently seen with PDD-NOS. Not all children

with PDD-NOS have the same symptoms. Symptoms may sometimes be mild, where

the individual exhibits only a few symptoms while at home or at school. Other

individuals may exhibit severe symptoms in all areas of their lives but still may not

qualify for a diagnosis of autistic disorder.

The signs and symptoms of PDD-NOS are divided into several categories, as outlined

below:

Social Signs and Symptoms:

Children with PDD-NOS have a desire to make and have friends, but they have

no idea how to make that happen. If there are language delays this may hinder

the ability to socialize with other people. There is frequently difficulty in

understanding body language, tone of voice, and facial expression in others, as

well as difficulty understanding emotions. Children with PDD-NOS often have

trouble distinguishing between emotions such as sadness, happiness and anger.

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Communication Signs and Symptoms:

Those with PDD-NOS frequently have language or communication issues. Those

with PDD-NOS may not babble as babies. They also frequently take language

literally and do not have an understanding of things such as sarcasm or joking

language. It is easier to expand language skills in those children who have some

language skills than it is in those children who are entirely nonverbal.

Behavioral Signs and Symptoms:

Children with PDD-NOS may exhibit tantrums or emotional outbursts. These

children may also have a great need for routine. Additionally, individuals with

PDD-NOS can often misinterpret what is happening in a situation and in turn

become easily frustrated. Tantrums are the result of fear and anxiety. Another

common behavioral symptom is perseveration, which means the child will tend to

dwell on certain events or subjects. Individuals with PDD-NOS may become

fixated on one topic or play only with one toy that is associated with a particular

area.

Given the newness of this diagnosis, there has been some disagreement on how to

apply a diagnosis of PDD-NOS. Recently, some studies [11] have suggested that PDD-

NOS may best be utilized by placing individuals into one of three subgroupings of

diagnosis, as explained below:

High functioning PDD-NOS:

This involves approximately 25% of those with PDD-NOS); and, these individuals

generally have symptoms that overlap Asperger’s, but they may differ slightly in

that they have delays in language development or slight cognitive impairment.

Mid-function PDD-NOS:

This involves approximately 25% of those with PDD-NOS; and, these individuals

generally have symptoms that resemble those with autistic disorder.

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Low function PDD-NOS:

This involves approximately 50% of those with PDD-NOS; and, these individuals

meet all of the criteria for autistic disorder, however, some of their symptoms are

noticeably mild.

Another way to diagnose PDD-NOS may be by placing individuals into one of five

subgroupings [12]:

Atypical autism: this category is for young children who may not have developed

a full-blown autistic disorder yet; these are individuals who almost, but not quite,

meet the criteria for autistic disorder.

Residual autism: this category is for individuals who have a history of having

autistic disorder yet may not at present meet the criteria; they therefore still have

some autistic features but as a result of interventions or development they do not

meet the criteria for autistic disorder.

Atypical Asperger syndrome: this category is for young children who may not

have developed full-blown Asperger syndrome as well as for individuals who are

almost, but not quite, to the point of meeting the full criteria for Asperger

syndrome.

Mixed clinical features of atypical Asperger syndrome: this category is for

children with an atypical autistic disorder.

Comorbid autism: this category is for children who have a medical or neurological

disorder, such as tuberous sclerosis, that is associated with some ASD-like

features.

Those who have PDD-NOS respond best to combined therapies. Therapies that have

been demonstrated to work well on PDD-NOS are applied behavioral analysis (ABA),

sensory integration therapy, play therapy, and social skills training. It is important for the

practitioner to pay attention to the child who may not be as easily diagnosed; the Yale

Developmental Disabilities Clinic [13] indicates that children who have PDD-NOS may

not get the treatment they need as easily as do those diagnosed with autistic disorder.

Additionally, many education systems in the United States do not have a special

education category for those individuals who have PDD-NOS, leaving these individuals

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to be placed into programs designed for students with other problems, such as

intellectual disabilities, emotional disturbances, or behavior disorders. This can lead to

the individual getting lost in the crowd and not having their needs met. It is therefore

essential that the practitioner work closely with parents and caregivers to ensure that

the individual with PDD-NOS is getting his or her needs met in all areas.

Childhood Disintegrative Disorder

Childhood disintegrative disorder (CDD), also called Heller’s syndrome, is a condition

wherein children develop normally until approximately age 3 or 4. They then lose all of

the skills they have learned. This includes motor, language, social, and other skills. To

be diagnosed with CDD the child must lack or lose normal function in at least two

developmental skills areas that include: social interaction, communication, and repetitive

or stereotyped patterns of interest and behavior/activities. CDD may be caught at

developmental screenings performed at well-child check-ups; these screenings should

always be performed, although parents should also be encouraged to voice concerns

about their child’s development at other times as well. The cause of CDD is not known,

but a link to the brain and nervous system has been made [14].

Symptoms of CDD include the following: a delay or lack of language, impaired

nonverbal behavior, an inability to start or to maintain conversation, failure to play, loss

of control of the bladder or bowels, loss of previously established language or

communication skills, loss or motor or skills, and; problems forming relationships with

others have been identified. The loss of skills may occur abruptly or it may occur over a

period of time that is extended. Parents should express concerns to a practitioner when

a child loses any developmental skill, whether it is gradual or sudden loss.

Outcome for CDD is poor. Many children with CDD are as severely impaired as those

with severe autistic disorder. Those with CDD almost always need support for the

duration of their lifetime and may need residential care in facilities such as group homes

or long-term care residential living. There is no cure for CDD, although there are some

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treatments that may be used to lessen or relieve symptoms. These treatments include

the following:

Medication:

While there are not any medications that treat this disorder directly, some

medications may be used to treat the behaviors that result, such as anxiety or

depression. Additionally, epilepsy is highly co-occurring with CDD, and

anticonvulsant drugs may be utilized to control seizures.

Behavior therapy:

Behavior therapy programs are frequently utilized to help the individual with ASD

learn language or to help minimize language loss, as well as social skills and

self-care skills. Behavioral therapy programs use systems of reward and

discipline to reinforce behavior that is desirable and to discourage behavior that

is not desirable. It is important that the approach in behavior therapy is consistent

among all practitioners, caregivers, and teachers.

Rett Syndrome

Rett Syndrome is a neurodevelopmental disease that is seen almost entirely in females,

although it may sometimes rarely be seen in males. Rett Syndrome presents in infancy

or early childhood, and is caused by a mutation in the MECP2 gene on the X

chromosome [15]. Since boys have a different combination of chromosomes than do

females, males who have the mutation that causes the syndrome are generally affected

in ways that are devastating. Many die prior to birth or very early in infancy.

Symptoms vary in type and severity. Generally the child may appear to be developing

normally, up until about 6 months of age, and then symptoms begin to appear. This is

also when the rate of growth of the head as well as progress of certain skills such as

communication may start to slow. The most notable changes usually occur at around 12

– 18 months and occur over weeks to months. There are a number of signs and

symptoms that occur with Rett syndrome, including those listed below:

Slowed growth: the brain slows in growth following birth. One of the first signs

that a child has Rett syndrome is that the child has a smaller than usual head

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size. Then, as the child ages, it becomes evident that there are delays in growth

in other body parts as well.

Loss of normal coordination and movement: the individual begins to lose a

significant amount of motor skills. This generally begins between 12 to 18 months

of age and includes a decreased ability to control the hands as well as a

decreased ability to crawl and walk in a normal way. This occurs rapidly at first

and then continues in a more gradual manner.

Loss of communication and the ability to think: individuals who have Rett

syndrome will lose their ability to communicate as well as to speak. They may

also become uninterested in toys, in people, and in their surroundings. The

change may be rapid in some children; for example, some children may

experience a sudden loss of their speech skills. Most children regain skills such

as eye contact over time as well as develop skills such as nonverbal

communication.

Abnormal hand movements: children who have Rett syndrome have stereotyped

hand patterns individual to each child; these may include wringing, clapping,

rubbing, squeezing, or tapping.

Unusual eye movements: those with Rett syndrome may have eye movements

that are unusual, such as blinking, staring intensely, or closing one eye.

Breathing problems: individuals with Rett syndrome may have breathing

problems that include apnea, forceful exhalation of air (or saliva), or rapid

breathing that is abnormal. These types of problems are likely to occur during

waking hours but not during sleep hours.

Irritability: Rett syndrome may cause individuals to become more and more

irritable and agitated as they age, having spells of screaming that can begin

suddenly and last for hours.

Abnormal behaviors: abnormal behaviors may include sudden and odd facial

expressions or extended bouts of screaming or laughter that occurs for no

reason. Abnormal behaviors also include such behaviors as hand licking or

grasping clothing or hair.

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Seizures: many who have Rett syndrome also experience seizures at some point

in their lifetime. The symptoms of these seizures vary, but they can range from

having a periodic muscle spasm to being struck with full-blown epilepsy.

Abnormal spinal curvature: this is also known as scoliosis. Scoliosis commonly

co-occurs with Rett syndrome, and generally begins at around 8 – 11 years of

age.

Irregular heartbeat, or dysrhythmia: many individuals with Rett syndrome

experience this life-threatening issue.

Constipation: constipation is a common issue for those who suffer from Rett

syndrome.

Rett syndrome is generally divided into 4 stages:

Stage I: In this stage the signs and symptoms of the disease may be easily

overlooked, as this stage begins between 6 – 18 months of age. Children who

are in this stage may begin to show less eye contact or begin to lose interest in

their toys. There may also be delays in sitting up or in crawling.

Stage II: Stage II occurs between 1 – 4 years of age. In this stage the child

begins to lose his or her speaking ability as well as the ability to use his or her

hands. Additionally, repetitive and purposeless hand motions begin. Some

children also start to hyperventilate or hold their breath as well as cry or scream

for no reason. It is also frequently difficult for the child to move on his or her own.

Stage III: Stage III is considered a plateau that starts between 2 – 10 years of

age. This stage may last for years. Even though issues with movement may

continue, behavior can improve. Children in this stage frequently cry less often,

and become less irritable.

Stage IV: This last stage shows extremely reduced mobility as well as muscle

weakness and scoliosis. Communication skills, understanding, and hand skills

usually won’t decline any further in this stage.

Most people who suffer from Rett Syndrome require daily assistance with everyday

tasks. They can usually live moderately long lives, extending to 50 years of age or

longer.

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EARLY ETIOLOGY

The precise causes of ASD are not known. However, many think that it is a complex

combination of genetic and environmental components that cause ASD symptoms.

ASD causes may be described in two ways: [16]

Primary ASD, which is also known as idiopathic ASD. This means that there is no

underlying medical condition, which can explain why there are symptoms of ASD.

Ninety percent of all ASD cases are primary ASD.

Secondary ASD, which means that there is an underlying medical condition that is

thought to be responsible – or at the very least, partially responsible – for the ASD

symptoms. Ten percent of all ASD cases are secondary ASD.

Primary ASD

Researchers have examined four possible causes to primary ASD. These causes are

outlined below:

Genetic causes:

There are certain genetic mutations, which may lead to a child being more likely to

develop ASD. ASD has been known to run in families, and there is 5 – 6% likelihood

that younger children born into families with an older child with ASD will also themselves

have ASD. Identical twins are also at risk for developing ASD. For example, if one twin

develops ASD, there is 60% likelihood that the other will develop ASD as well. However,

it is important to note that there are currently no specific genes that have been linked to

the development of ASD, and there is no way to currently test for the genetic

predisposition toward ASD.

Environmental causes:

A child may be exposed to certain environmental factors during the mother’s pregnancy

that may lead to the development of ASD. Some researchers think that ASD is caused

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more by environment than by genetics, and that certain people may be born with a

predisposition toward ASD that is only triggered if exposed to certain environmental

stimuli. Some of the suggested environmental stimuli include: a mother who had a viral

or bacterial infection while pregnant; a mother who smoked while pregnant; an older

father; air pollution; and, pesticide exposure.

There is evidence to support some of these environmental factors. For example, women

who were exposed to the rubella infection while they were pregnant have a 7% risk of

giving birth to a child who develops an ASD. Additionally, women who smoked while

pregnant were 40% more likely to have a child who developed an ASD. Also, fathers

over 40 years of age were 6 times more likely to have a child who developed an ASD.

Researchers posit that this may be the case because a father’s genetic material

becomes more vulnerable to mutation as he ages. There is less evidence to support the

idea that air pollution or pesticide exposure causes the development of ASD; however,

studies are currently examining this idea under the CHARGE study [16].

Psychological causes:

A child may have thought processes that contribute to the expression of symptoms of

ASD. A great deal of the research behind the psychological factors that may contribute

to ASD is rooted in a psychological concept called “theory of mind” (TOM) [16]. TOM is

an individual’s ability to understand others’ emotional states; and, at its core involves

seeing the world through the eyes of the other person. The majority of children who do

not have ASD possess a full understanding of TOM by the time they are approximately

4 years of age. Children who have ASD possess a limited or no understanding of TOM.

This may be one of the causes of the social problems that children with ASD

experience.

Neurological causes:

There are certain problems with how the brain and nervous system develops that may

contribute to ASD symptoms. A great deal of the research into neurological causes has

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focused on the amygdala, which is the section of the brain that matches emotions to the

situation the individual is placed in. The amygdala selects emotional responses from the

limbic system and relays them to the cerebral cortex.

Brain studies that have been conducted on people with ASD indicate that the

connections between these systems are not fully functional. The result is that people

with ASD can suddenly experience extreme emotional reactions even to trivial objects

or events. This may explain why people who have ASD favor routines, since routines

and patterns tend not to promote extreme responses. An additional area of research

has been focused on mirror neurons, which enable an individual to mirror another

individual’s actions. For example, a mirror neuron is what allows a baby to smile in

reaction to a mother’s smile. Mirror neurons create more elaborate pathways in the

brain that may contribute to higher brain functions such as language, learning from

others, and the ability to recognize emotional states in others as an individual grows

older. Studies of children with ASD have discovered that mirror neurons in ASD

individuals do not respond in the ways they do those without ASD. Difficulties with

mirror neurons may contribute to the problems that some individuals with ASD

experience with learning and social interaction.

Secondary ASDSometimes another medical condition may be the cause of ASD. Some of these

conditions that can cause symptoms of ASD are listed below:

Fragile X syndrome:

This is an uncommon condition that occurs more frequently in boys than it does in girls.

It occurs in about 1 in every 3600 boys, and in about 1 in every 6000 girls [16], and

presents with certain distinct characteristics such as a long face, larger ears, and

flexible joints.

Tuberous sclerosis:

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This is a rare condition that results in multiple tumors to grow throughout the body. The

tumors are not cancerous. This condition occurs in approximately 1 in every 6000

children.

Rett syndrome: This condition, also discussed above, is included here as a rare

secondary ASD and almost always occurs in girls. It causes extreme difficulty with

physical movement, and the individual suffering from Rett syndrome nearly always

requires full assistance with daily tasks. Approximately 1 in every 20,000 girls has Rett

syndrome.

RECENT CHANGES TO THE DSM-V

There have been several refinements made to the diagnostic criteria found in the

Diagnostic and Statistical Manual (DSM), with suggestions based on limitations found in

previous diagnostic criteria [1]. The fourth edition of the DSM (DSM-IV) contained a large

number of diagnoses [17], including a large number of not otherwise specified (NOS)

diagnoses. Additionally, practice has changed in recent years to include the

consideration of the contribution of various comorbidities.

Autism Spectrum Disorders in the DSM-V

ASD in the DSM-V is an umbrella term that will include such disorders as pervasive

developmental disorders, autistic disorder, Asperger syndrome, childhood disintegrative

disorder, and not otherwise specified disorders. ASD’s will consist of these groups of

developmental disorders that are seen on a continuum that ranges from mild to severe

and present in infancy or early childhood. However, in the new DSM-V, the age criteria

for diagnosis will be different; it will not be specified that diagnosis must occur during

childhood and that diagnosis may occur later on in life. Because caregivers might

compensate for a child’s lack of social intelligence, in school and other social

interactions, a diagnosis of ASD might not be made until later in the child’s life.

Onset of ASD has been extensively studied [2-4], and it is accepted by the majority of

practitioners that diagnosis may occur much later than the time the disorder begins

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presenting itself. Additionally, parents and caregivers do not always acknowledge

symptoms immediately as signs of a problem, and the time at which they acknowledge

symptoms is important as well. It is not always easy to detect specific signs and

symptoms of ASD, particularly the early ones [5]. This aspect of ASD is, in particular,

important to the changes in the new DSM-V because onset of symptoms prior to age 3

has been removed. The deletion of the age criteria in the diagnosis of ASD in general

highlights the fact that some individuals are diagnosed later in life, as adolescents or

adults.

It has been suggested that the presence of language delays not be utilized as criteria

for applying a diagnosis of autistic disorder. This is because it has been well established

that a language delay is not a symptom that is specific to ASD. Further, children who

suffer from ASD may develop fluency of speech as they grow even if they suffered from

language delay as a younger child. However, it is important to note that the

development of language is crucial where it regards outcome because a severe

language delay in early childhood seems to predict poor outcome [18].

Considerations regarding specific disorders in the DSM-V are outlined below:

Asperger disorder:

A highly debated change to the revision of the DSM-V is the suggestion to remove

Asperger syndrome. However, the suggestion to remove Asperger syndrome is based

on study evidence that indicates that there is no clear difference between Asperger’s

and autistic disorder where outcome is concerned [1].

Disintegrative disorder:

While the validity of disintegrative disorder has been debated recently, the debate

focuses on the problems that stem from precisely defining developmental regressions

as well as pinpointing the time of onset of the regression. Additionally, there is the

problem of defining whether developmental delays were present prior to regression.

Further, consideration has been given to whether symptoms or changes present

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gradually or suddenly. Due to these ambiguities, the DSM-V therefore suggests removal

of the category of childhood disintegrative disorders.

A goal of this new criterion is to stabilize validity of diagnostic criteria across types of

ASD. Earlier studies have indicated that various types of ASD are not easily

distinguishable from one another [19, 20], which was supported by a recent review [21],

which concluded that criteria for various types of ASD indeed overlap. One study [22]

indicated that this led to differing definitions between such disorders as autistic disorder

and Asperger syndrome between assessment sites, which compromised diagnostic

validity. The conclusion was that distinctions between various types of ASD’s are often

dependent upon the severity of symptoms such as the presence of a learning disability

or language skills. Utilizing an umbrella term such as autistic spectrum disorders helps

place symptoms on a continuum and provides one clear, concise defining term,

therefore preserving diagnostic validity. The major goal of changes to the diagnostic

criteria in the new DSM-V is to make criteria for ASD’s more clear as well as increase

validity of diagnosis.

CHARACTERISTICS OF ASD

Social deficits

Infants and children with ASD are

different from typical infants when it

comes to social development [24].

Typically developing infants are very

social. They gaze toward faces, turn

toward speaking voices, grasp

fingers extended towards them, and

smile by the time they are 2 – 3

months old. Conversely, children

who develop ASD have difficulty with

social interactions with other human

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[23]

beings. By 8 – 10 months of age, infants who go on to develop ASD are generally

showing some symptoms such as the failure to respond to their names, a reduced

interest in other people, and a delay in babbling. By the time they are toddlers, many of

these children have difficulties playing socially with other children. Additionally, they

don’t imitate others and they often prefer to play on their own instead of with other

children. They may not seek comfort from parents or caregivers as well as show a

failure to respond to anger or affection in ways that are typical.

Research has indicated that children with ASD are attached to caregivers. However, the

way this attachment is expressed is often unusual, and caregivers frequently interpret

the child’s expressions as disconnected or emotionless. It is important to remember that

both children and adults who suffer from ASD have difficulty determining what others

are thinking or feeling. Where children who develop normally learn to accurately

interpret such social cues as smiling, waving or grimacing, these social cues hold little

meaning for the individual who suffers from autism. Individuals with ASD also have

difficulty seeing things from another person’s perspective, meaning that they have little

empathy. While most normally developing five year olds have learned to see things from

another person’s perspective, the person suffering from ASD has not learned this skill,

leading to poor understanding. This may interfere with an ability to predict or understand

actions as well as lead to an inability to understand why another person is feeling the

way they are feeling.

Finally, it is common for individuals who suffer ASD to have difficulty regulating their

emotions. They may come across as emotionally immature, having crying outbursts or

displaying emotions that are inappropriate for the situation. They may also be disruptive

or physically aggressive. These expressions may be particularly pronounced if the

individual with ASD is feeling overwhelmed or frustrated, and can lead to self-injurious

behaviors such as biting or head banging.

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Communication difficulties

Infants and children with ASD are different from typical children when it comes to

communication [24]. The majority of children pass predictable milestones to learning

language by 3 years of age. The earliest of these is babbling; and, by the age of 1, most

typically developing children will say a few words, acknowledge their names, and point

to or display objects they want. Additionally, children of this age have the ability to

communicate clearly either through sounds or expression when they do not want

something that is given to them. Conversely, children suffering from ASD generally

experience delayed babbling and speaking and may also experience delays in learning

how to utilize gestures to indicate their preferences. Some individuals who develop ASD

may possess these abilities early on and then lose them. Others experience delays and

then gain language ability later on in life.

With therapy, many with ASD do learn how to use spoken language and all with ASD

can learn how to communicate in some way, either verbally or nonverbally. Those who

communicate nonverbally or nearly nonverbally learn to use systems such as pictures,

sign language, word processors, or devices such as speech-generators.

When language does begin to develop, an individual with ASD may utilize speech in

ways that are unusual. For example, some individuals have difficulty forming complete

or meaningful sentences. They may speak single words or phrases or repeat the same

word or phrase over and over again. Others may experience a stage where they repeat

everything they hear word for word, a condition called echolalia. There are others who

have difficulty sustaining conversation despite developing large vocabularies. Still

others carry on long monologues on favorite subjects, giving those listening little

opportunity to respond and having little understanding of the give and take of social

conversation.

Another common communication difficulty is the inability to interpret body language and

tone of voice. For example, sarcasm is particularly difficult for those with ASD to

interpret. An individual who has developed normally may accurately interpret the

sarcasm in a comment such as “Oh, that’s just great!” whereas the individual with ASD

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would miss it and interpret the comment as referencing something that actually is just

great. The individual with ASD may also not exhibit typical body language himself or

herself. For instance, their body language may not match what they are saying.

Tone of voice may not reflect the emotion and individual with ASD is trying to convey.

Some individuals suffering from ASD utilize flat or robotic sounding voices. These

displays make it difficult for others to understand what individuals with ASD need or

want. This failure in communication can in turn lead to frustration and inappropriate

displays made by the person suffering ASD, such as screaming or grabbing.

Stereotyped or repetitive behaviors and interests

Infants and children with ASD are different from typical children when it comes to

behaviors and interests [24]. Individuals who develop ASD generally engage in repetitive

behaviors as well as have a tendency to engage in a range of activity that is tightly

restricted. Common repetitive behavior includes hand flapping, jumping, rocking,

twirling, arranging or rearranging objects, and the repetition of sounds, words, or

sentences. Occasionally the repetition involves behaviors such as wiggling the hands or

fingers.

Restrictive activities can be clearly seen in the ways children with ASD play with their

toys. Instead of actually playing with their toys, these children will often spend hours

lining the toys up in a specific order. In adults this is seen in the way the individual is

preoccupied with having certain objects lined up in a certain order. Repetitive behavior

may be intensely obsessive and very unusual. It can take any form, including unusual

content or knowledge. This is why some individuals with ASD develop extreme interest

and knowledge of numbers or scientific topics. Individuals with restrictive activities can

become extremely upset if someone or something disrupts the order of their things. This

shows how essential consistency is for many individuals with ASD. Even the slightest

changes in environment or routine can prove very stressful for individuals suffering from

ASD and may lead to outbursts.

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Individuals with ASD may have many different obsessions or behaviors, however there

are some that are particularly common among those with ASD. Activities where these

behaviors become notable include: identifying historical dates and events, computers,

certain television programs, trains, and science. Children with ASD in particular like

playing with toys such as Thomas the Train and dinosaurs. Older individuals with ASD

may develop repetitive obsessive interests with things like car registration numbers,

traffic lights, shapes, or body parts. Individuals with ASD are also frequently quite

interested in collecting objects; this may be collecting something that seems quite

common, such as a certain toy, or something that seems uncommon, such as leaves.

What marks the behavior as unusual is the duration and intensity that the person with

ASD shows. People with ASD will frequently learn a great deal about the thing they are

obsessed with, be intensely interested in it for an extended period of time, and feel very

strongly about the object or objects in question. There are a number of reasons that

people with ASD develop obsessions, including the fact that obsessions help provide

structure and order, obsessions offer a way to start conversations when social

interactions prove difficult, obsessions help the individual relax or feel happy, and

obsessions offer enjoyment and the opportunity to learn.

Repetitive behaviors can include arm and hand flapping, finger flicking, rocking,

jumping, twirling, spinning, head banging, and more complex body movements.

Repetitive movements also include the repetitive usage of an object, such as the

repetitive flick of a rubber band or repetitively stroking a piece of fabric. Many individuals

with ASD have what is called sensory sensitivity; this means that they are over or under

sensitive to sights, smells, touch, sounds, and tastes. Their balance and body

awareness may also be affected by this sensitivity, and the repetitive behavior is a way

to deal with the sensitivity. There are a number of reasons that people with ASD utilize

repetitive behavior, including attempts to obtain or reduce sensory input, finding ways to

deal with anxiety or stress, or as a way to obtain enjoyment or to occupy one self.

Routines and sameness are also important for the individual with ASD. Routines are

important because they bring order and predictability to the individual’s life and help to

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manage anxiety. Repetitive behaviors and obsessions offer routine and order to the

individual who suffers from ASD. However, the need for repetition and routine and order

may extend beyond repetitive behaviors. Some individuals with ASD may have issues

with changes such as those to their physical environment. For instance, if a chair is

moved in a room or a new person enters the room, this could be difficult for some

individuals with ASD to handle. Some individuals with ASD may also have very rigid

preferences when it comes to things such as food. For example, they may only eat food

that is a certain color or begins with a certain letter of the alphabet. This may extend to

other areas of life, such as clothing (for example, only wearing clothing made of certain

fabrics) or even to everything objects (for example, only utilizing certain brands of soap

of toilet paper).

Some individuals with ASD may also develop a need to have a routine around daily

activities such as bedtime or meals. These routines may become nearly ritualistic.

Verbal rituals in addition to physically repetitive behaviors may also be seen in the

individual with ASD; and, they may repeat the same question over and over again or

need to hear a specific answer repeatedly. There may also be compulsive behavior in

addition to obsessive behavior that is developed. This means that the individual may do

things like wash their hands or check locks constantly. This behavior is not the same as

having obsessive-compulsive disorder (OCD), although it strongly mirrors it.

Cognitive delays

Children with ASD are different from typical children when it comes to cognitive

development [25]. While cognitive abilities vary, a great many children who have ASD

also have some level of mental retardation. About 75% of people who have ASD have a

non-verbal IQ that is below 70, although ASD may also occur in individuals who are of

normal or high intelligence. There are some children with ASD who also have a high

level of giftedness in a certain area, such as art, music, or math. However, this category

or individuals typically referred to as savants is typically very small and is estimated to

comprise less than 1% of ASD children [25]. If a child with ASD has abilities such as

these they usually manifest by the age of 10.

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Children with cognitive delay often present with other delays as well. They also miss

general developmental milestones, particularly the following [26]:

Speaking their first words, generally at age 10 – 18 months

Responding to simple instructions, exploring on one’s own, utilizing trial and

error, generally at age 12 months

Walking without aid, generally at age 12 – 18 months

Naming body parts, generally at 18 months

Utilizing phrase speech, generally before the age of 24 – 30 months

Some studies indicate that cognitive delays may be in part the result of drug usage. One

study, the Neurodevelopmental Effects of Antiepileptic Drugs (NEAD), confirmed that

fetal exposure to the drug valproate impairs a child’s IQ well into childhood [25]. This

study was conducted on 310 pregnant women in the United States and the United

Kingdom, with the purpose being to determine if there were differential long-term

neurodevelopmental effects across four frequently utilized drugs: carbamazepine,

phenytoin, lamotrigine, and valproate. Researchers indicate that the use of valproate

during pregnancy led to significant cognitive effects in children, with the child IQ being 8

– 11 points lower (as compared with the other drugs). Valproate was therefore

considered a very poor choice for women who were of childbearing age. While these

results seem to indicate one possible culprit of cognitive delay in those with ASD, further

study is needed to determine how drugs could be contributing to cognitive delays.

A child with ASD may also experience additional mental health conditions or learning

disabilities. For example, they may experience attention difficulties, problems controlling

emotions, or have difficulties learning. There may also be mood or anxiety disorders

present. For example, children with ASD sometimes suffer specific phobias in addition

to ASD. It is also important to note that medication that is utilized to treat symptoms may

affect a child with ASD cognitively. For example, children with ASD who also have

attention deficits do not respond predictably to stimulant medications (i.e.

methylphenidate) that may be prescribed for children with attention deficit disorder.

Keeping in mind that medication may affect the ASD child in unpredictable ways allows

for customization of treatment protocol.

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ASSOCIATED FEATURES OF ASD

Genetic disordersOne of the biggest advances in understanding the pathophysiology of ASD has been

appreciating the significance of the contribution genetics makes to the etiology of ASD.

There are three main areas of evidence that support this genetic contribution: twin

studies, which compare monozygotic twins (MZ) and dizygotic twins (DZ); family

studies, which compare the rates of ASD in the first-degree relatives versus the general

population; and, studies of genetic syndromes that also co-occur with a diagnosis of

ASD [27]. Each of these will be addressed in turn in the following sections.

Since MZ twins share 100% of genetic material, and DZ twins share 50% of genetic

material (which is similar to siblings who are not twins), and both of these types of twins

share an environment in utero, the higher disease occurrence in MZ twins as opposed

to DZ twins supports the genetic etiology. This has been supported in more than one

twin study and is overall consistent with estimates of heritability at around 70 – 80% [28,

29]. Studies in families indicate that first-degree relatives of those who are autistic have a

marked increased risk of developing ASD as compared to those in the general

population. This is consistent with the strong familial, genetic tie that was observed in

the twin studies [30]. This is not to say that environment does not play a role, but rather

to display that genetics also plays an important role as well. Further, first degree

relatives of those with ASD display an increase in the behavioral and cognitive features

that are associated with ASD, such as language deficits or autistic-like social

impairments [31]; however these often manifest in lesser forms. This is as compared to

the general population [32].

It has also been common knowledge for several decades that there are a number of

medical and genetic conditions that are associated with ASD. For instance, conditions

such as Joubert syndrome, Smith-Lemli-Opitz syndrome, Tuberous Sclerosis, and

Fragile X are all known to cause ASD, although many of these with a lower than 50%

penetrance [33, 34]. Many genes have been identified for ASD; however, few of these

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genes are specific to ASD but instead contribute to a genetic risk for an associated

disorder that causes ASD.

EpilepsyEpilepsy is very common in those who suffer from ASD, and increasingly, practitioners

are recognizing it as a problem that must be dealt with in addition to the problems that

come with an ASD diagnosis. Approximately 20 – 30% of those who suffer ASD will

develop epilepsy by the time they become adults [35]. However, actual rates of

comorbidity vary with age and the type of disorder.

Major risk factors for occurrence of a seizure are mental retardation as well as the

presence of additional neurological disorders [36]. Therapeutic approaches to epilepsy in

ASD include conventional treatments; however, should seizures not be evident, there is

controversy as to what treatments should be utilized. Anticonvulsant medication may

interfere with moods or behaviors, and disturbances in moods and behaviors are often

observed in those patients with ASD. There is currently limited understanding regarding

the link between ASD and epilepsy; however, from a clinical standpoint this link should

not be dismissed.

Intellectual disordersRecent findings [37] indicate that those with ASD also have a high prevalence of

intellectual disorders. Intellectual disabilities are characterized by cognitive, social, and

adaptive deficits, leading to the co-occurrence with other disorders, such as ADHD,

mood disorders, and catatonia and repetitive behaviors, which further complicate

matters. These problems may be problematic not only for the individual suffering from

the disability but also for parents, caregivers, and providers. The disorder may be so

severe as to be debilitating [38].

Matson [39] divides individuals into three distinct groups: those with intellectual disability

(ID), those with ASD, and those with both ASD and ID. Matson states that it is important

for the practitioner to know which type of person he or she is treating, as that will

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determine the best course of treatment. For instance, an individual with both ID and

ASD will have different needs than the individual who only has ASD.

The combination of intellectual disorders and ASD presents a number of challenges as

well as deficits across a wide range of behaviors or skills that are not seen in those

individuals who have only ID or only ASD. For example, it has been observed [40] that

those individuals with severe autism had more feeding problems that were behaviorally

based, in particular with selecting or refusing food, as compared with those who only

had ID. The combination also increases challenging behaviors. For example, as IQ

goes down, the severity of challenging behaviors in ASD increases. Murphy et al [41]

discovered that self-injury in particular increased. Further, those with ASD tend to not

“grow out” of these types of behaviors; rather, they continue to present significant

challenges over the lifespan, as observed by Murphy et al [41] in a 12-year follow-up

conducted on 141 individuals with severe ASD and ID.

DEVELOPMENTAL COURSE OF ASD

It is commonly believed that those with ASD fall into one of two major developmental

categories [42]. One category involves early onset of impairment and signs and

symptoms of ASD without signs of regression. This is termed gradual onset course. The

other category involves a rather typical development. This typical development is then

followed by loss of language or social skills, sometimes with loss of both, that is paired

with an emergence of ASD-type behaviors such as repetitive or stereotypical behaviors.

This is termed regression course. There is mixed evidence when it comes to prognostic

implications where the regression course is concerned. Some studies indicate that the

regression course is associated with worse outcomes than is the gradual onset course

[43]. Both of these courses may be diagnosed in early to late infancy [44].

There are two approaches that have been taken in order to understand the

development of ASD. These approaches are retrospective and prospective.

Retrospective approaches are mainly based on information gained from reviews of

medical records, parental recall, or observational coding of videotapes made in the

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home environment during the first or second year of life prior to the ASD diagnosis.

Retrospective studies have generated information that indicates that the core deficits of

ASD are social functioning [45]; however, they also indicate that children who suffer from

ASD also exhibit disruptions in other areas of their lives within the first year of life,

including motor skills, attention, and temperament.

Prospective studies are considered optimal to investigate the timing and nature of how

ASD emerges [42] because prospective, longitudinal studies conducted from infancy

would provide a means of determining patterns of development in those children who

are later diagnosed with ASD. This would later eliminate such confounds as recall bias.

There have been five prospective studies to date that have provided longitudinal data

before the third birthday in children who have ASD as well as in children who are not

affected [46-50]. These studies have all indicated that the development of cognitive,

motor, language, and social skills all appear to be fine at age 6 months. Development

then slows. By the time the children enter pre-school, those with ASD frequently display

motor delays.

Gradual Onset CourseThe gradual onset course occurs just as its name suggests; signs and symptoms

present themselves gradually. Parents or caregivers may notice increasing delays in

development or strange behavior, such as an unwillingness to communicate or

communicating in odd ways. One example of this would be a failure to look a person

who is speaking in the face. Other examples include failure to turn when the child’s

name is called or failure to display interests by pointing to objects the child desires.

Stereotypical behaviors may also develop, such as tapping or hand flapping. All of these

behaviors are early warning signs that a child is developmentally delayed and may need

to be screened for ASD.

Regression CourseThe regression course occurs when a child is following a pattern of normal

development, generally for the first 12 – 24 months of life, and then he or she appears

to lose skills he or she has acquired. Language regression is considered the most

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obvious form of regression, but it may also be accompanied by more global regression,

which can involve a loss of social skills or social interest. There is a late-onset

regression course that may occur after the age of 3, but the more common course

occurs prior to the age of 3.

Regression is thought to lead to the more severe course of autism [51], particularly when

young children abruptly lose acquired skills, according to a study published in the

Journal of Autism and Developmental Disorders [52]. There is a particular debate among

scientists as to whether children who regress form a distinct grouping of autistic

individuals, as some studies have indicated that those with regression have poorer

outcomes [53].

The study published in the Journal of Autism and Developmental Disorders surveyed

the parents of 2,720 children and found that those children who regress were more

likely to display more severe symptoms than were those children who had early onset

delays. This was as measured through two standard questionnaires: the Social

Responsiveness Scale and the Social Communication Questionnaire. Children in the

regression group were more likely to receive a diagnosis of autistic disorder as opposed

to a diagnosis that was on the milder end of the spectrum, such as Asperger syndrome,

as compared to their earlier onset peers. Additionally, in a school setting, approximately

70% of children who regress are put into special education settings, with 56% needing a

professional aid.

Communication

Research indicates that regression in communication, particularly in speech and

gestures occurs in approximately 22 – 50% of those children with ASD [54]. The rate is

so variable because the definition for regression is fairly loose and can mean anything

from the loss of a minimum of five words for a period of 3 months to the loss of the

consistent usage of one word used in standard communication. Approximately 30% of

children who experience regression never manage conversational speech.

Social

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Loss of social skills can mean that the child stops returning the caregiver’s gaze, for

example, or displays a lack of interest in other people when they are in the same space

with him or her. An increased disinterest in social games that the child previously

enjoyed, such as patty cake or peek-a-boo, may become obvious. One meta-analysis

[55] indicates that approximately 38% of children suffer from social regression.

Cognitive

Cognitive decline in ASD manifests as more than a child simply losing what he or she

has learned to date. However, one of the manifestations most clearly seen in cognitive

decline is the loss of language skills. The individual may have been learning language

skills perfectly well and then suddenly loses the ability to learn new skills. Other features

of cognitive decline are the inability to learn new material as well as the development of

associated mental impairments. An example of an associated impairment would be

epilepsy, a common impairment associated with ASD.

Self-help skills

The loss of self-help skills occurs when a child loses the ability to continue to develop

independence. This means that the child fails to develop the ability to feed, clean, and

dress oneself. Children who regress lose the ability to understand how to complete

these tasks and can lack or lose the physical coordination necessary to complete these

tasks. Additionally, the child may lose or not develop an understanding of how or when

to ask for assistance with tasks. These types of tasks help children become socialized

into his or her culture; without them the child is poorly socialized. The fact that many

individuals with ASD are lacking in this area is one reason why they appear to be so

poorly socialized.

EFFECTS OF EARLY INTERVENTION

Early detection of ASD allows for practitioners to intervene in a more timely way with

behavioral therapies that may then improve outcomes. Currently, the American

Academy of Pediatrics guidelines call for the screening of all toddlers at the ages of 18

and 24 months [56]. These are the ages at which the existing screening methods are

most able to identify children at risk for ASD.

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However, research has shown that a brief questionnaire administered to parents at their

child’s one year well-baby screening may help practitioners identify those children who

have ASD or who are at higher risk for the development of ASD. One study involving

137 pediatricians who administered a 24-item checklist to all caregivers bringing in

children for routine one-year check-ups indicated that about 346 of the 10,500 children

screened were at risk for autism. These children were all referred to an autism clinic to

be evaluated further. Of these children, approximately 50% were followed to age 3; and,

32 of these children received a diagnosis of ASD. Another 56 children were diagnosed

with having a language delay. Of those children diagnosed with delayed language skills,

9 children were diagnosed with having a developmental delay, and; 36 children were

diagnosed with other conditions.

The screening utilized for autism in childhood – called the Communication and Symbolic

Behavior Scales Developmental Profile Infant-Toddler Checklist, took the parents

approximately 5 minutes to complete; and, the screening test predicted autism and

other developmental delays approximately 75% of the time. This indicates that this

questionnaire – or one similar – could be useful in identifying ASD earlier so that more

timely intervention methods may be put to use. Although most pediatricians do not

routinely screen early for ASD and other developmental delays (indeed, prior to the

study, only 30 of the 137 pediatricians participating (22%) had routinely screened for

ASD at 1 year of a child’s life) there seems to be some good evidence that early

intervention efforts do benefit those who suffer from ASD.

The Early Start Denver Model (ESDM), which is a behavioral intervention program

appropriate for children as young as 12 months who are suffering from ASD, has been

found in more than one study to be effective in improving brain response as well as

social skills. ESDM combines applied behavioral analysis (ABA) along with a

developmental relationship based approach to achieve gains in language, cognition,

and everyday living skills. ESDM is a unique approach in part because it works with

children who are very young, but also because it blends ABA with routines that are

based in play and focus on building relationships.

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One study [57] utilizing ESDM examined 48 children with ASD between 18 and 30

months of age. The children were randomly assigned to either receive ESDM or a

community based intervention regimen for a two-year period. Electroencephalogram

(EEG) activity was measured at the close of the two-year period. The hypothesis was

that children receiving ESDM would show higher levels of brain activity when viewing

faces than when viewing objects than would children who were receiving the typical

community regimen. The children were paired with typically developing children at the

time of their EEG assessment. Additionally a group of typical 4-year-old children was

tested as a comparison group. The children who were receiving the ESDM intervention

regimen were given therapy services for 20 hours per week and parents were also

trained to deliver the intervention regimen. Children who were in the community based

regimen received treatment per usual in their community and were given evaluation,

referrals, as well as resources and reading material at the start of services as well as

two times annually.

On the individual level, the study mentioned above showed that 11 of 15 children in the

ESDM group (73%) and 12 of 17 children (71%) in the control group had higher levels

of brain activity on their EEG assessment when viewing faces as opposed to viewing

objects. This is compared to 5 of 14 (36%) children in the community regimen group. At

the close of the study, the children in the ESDM group exhibited brain activity that was

comparable to typically developing children and that was significantly different from

those children who had received the community regimen. Dr. Geraldine Dawson, a

developer of the ESDM intervention and one of the researchers on the study, stated the

following: “For the first time, parents and practitioners have evidence that early

intervention can result in an improved course of both brain and behavioral development

in young children. It is crucial that all children with autism have access to early

intervention which can promote the most positive long-term outcomes” [57].

Another study [57], also examining the ESDM, found that this same model minimizes the

need for required therapy following the intervention as well as achieves the best

possible outcomes for the individual in terms of IQ, social interactions, and brain activity.

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The study compared 21 children who received ESDM to 18 children who received a

community intervention regimen during the two years they received their early

intervention regimen as well as the subsequent four years post-intervention. ESDM is

more expensive to deliver in the early years of intervention; there was an average

monthly cost of about $10,000 per child. Children on the community regimen had an

average monthly cost of approximately $5,200. However, the hypothesis was that

despite this greater up-front cost, ESDM would pay off greater dividends on the back

end of things, promoting higher IQ, greater ease in social interactions, increased brain

activity, and reduced therapy, leading to an overall reduced cost.

In the four years following the early intervention, the children who had received the

ESDM required an average of approximately $4,450 in related services such as speech,

physical, and occupational therapy, as well as ABA. The children who received the

community regimen required an average of approximately $5,550 in related speech,

physical, and occupational therapy, as well as ABA. Study researchers believe this is

very telling and differences in cost may be even broader than study results suggest, as

the defining factors for related expenses were kept fairly narrow. David S. Mandell,

study researcher expressed the following: “I believe the cost efficiencies would become

even more pronounced if there had been an evaluation on health costs and overall

family economics such as the ability of both parents to continue to work and earn

income while their child received services” [57].

These two studies offer powerful evidence for the idea that early intervention such as

early screening as well as methods such as ESDM may prove to offer better outcomes

for those individuals who suffer from ASD, and in turn offer parents and caregivers a

better outcome as well. Early intervention may help a child in the form of increased

cognitive and social skills, and a family in terms of long-term financial savings.

Therefore, there is strong evidence to suggest that early intervention benefits everyone

involved with ASD.

RISK FACTORS

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There are a number of risk factors that contribute to ASD. There are both heritable and

non-heritable risk factors. These risk factors are discussed below.

GenderWhile ASDs occur in all racial, ethnic, socioeconomic, and gender groupings, it is well

known that males have a greater likelihood than do females of developing an ASD. The

ratio is as high as 5:1 [58]. It is not known or well understood why there is this

discrepancy. It is also not known if concrete differences in development or presentation

occur between genders. Males with ASD do have certain advantages over females with

ASD. Research indicates that females with ASD tend to have lower Intelligence

Quotients (IQ) than do males [59]. Males also show stronger verbal, motor, and social

skills. However, when controlling for language, females display stronger nonverbal

problem solving abilities.

A recent study published in JAMA Pediatrics [60] that examined the records of more than

625,000 births indicated that birth that involved both augmented and induced labor was

linked to a 35% higher instance of ASD as compared with labor that did not receive

either treatment. The study further indicates that augmented or induced labor was linked

with a smaller increased risk in boys. In girls, only the augmented birth was linked with a

small increased risk. The researchers did control for a number of associated factors that

have been shown to increase the risk of autism, such as the health or age of the

mother. Researchers in the study added that the study results did not necessarily

indicate cause and effect; rather, there could be other factors at play that have as yet

been unidentified. One of these factors may be the usage of Pitocin (oxytocin) that is

utilized to induce or augment labor. Approximately 50 – 70% of women who undergo

induction in the United States receive Pitocin injections. There are other contributors

that may be a factor, such as pregnancy conditions or delivery events that lead up to the

need to induce labor. Further study is needed to determine why augmented and

induced labor is leading to this increased the risk of ASD in boys.

Genetics

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Twin studies provide evidence to support that there is a heritable component to ASD

etiology, although there has not been any particular gene discovered that predisposes

an individual to ASD [61]. Twin studies have been done on both monozygotic (identical)

and dizygotic (fraternal) twins. Monozygotic twins share all of their genes, whereas

dizygotic twins share half of their genes, on the average. Studies have indicated that

there are increased disease concordance rates among monozygotic twins as compared

to dizygotic twins. A recent study indicated that there is a 60% monozygotic

concordance among 25 sets of twins as compared to a 0% dizygotic concordance

among 20 sets of twins [62]. This data suggests that there is a high rate of heritability.

However, the suggestion has been made that estimations from twin studies may be

overstated. Still, the large heritability discovered in twin studies is supported through

familial aggregation studies [63].

Several studies have also shown a heightened risk for ASD amongst siblings of cases.

This is termed “sibling relative risk” [61] and is estimated as the “ratio of the risk for ASD

among siblings of cases to the risk, or prevalence, in the general population” [61]. The

probability that a sibling of a case will develop ASD is estimated at between 2 % and

6% [64, 65], although there are some estimates that are as high as 7% for siblings of male

cases and 14% of siblings for female cases [66]. It is important to remember, however,

that these numbers are entirely dependent on the population prevalence estimates at

the time of sampling, leading to higher or lower estimations, depending on what is

happening in the population.

There is also another avenue of support for genetic association, and this is the overlap

of ASD with certain genetic disorders such as tuberous sclerosis [67], neurofibromatosis

[68], and Fragile X syndrome [69, 70]. To that end, abnormalities on nearly every

chromosome have been associated with one form or another of ASD phenotype, most

notably on chromosomes 7, 15, and X [71]. The most frequently cited of these are

duplications and deletions of the proximal area of chromosome 15 [72-75]. Breakpoints for

chromosomal inversions that result in features of ASD frequently lie in fragile regions of

chromosomes, which lead to speculations about the possible role of unstable regions of

DNA and submicroscopic chromosomal deletions [76, 77].

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Prenatal and Perinatal FactorsThere are specific prenatal factors that may contribute to development of ASD. One

such factor is maternal infections. In several studies [61], maternal infections were

measured with non-specific indicators, which included maternal recall of symptoms such

as fever as well as information archived in medical records. While the studies did not

attain statistical significance for the infection measure, each reported a ratio of odds that

were above 1.0 [78-80].

There are specific infections that are known to affect developing brains; of these that

have been most commonly known to affect the developing brain as well as to be

commonly associated with ASD is rubella. However, it has also been shown that other

infections, such as herpes, syphilis, and varicella, as well as the flu, also have a higher

than normal association with ASD. Another factor is prenatal and intrapartum

pharmaceutical usage. For example, utilizing thalidomide during days 20-24 of gestation

has been associated with increased risk of ASD [81, 82]. This suggests that xenobiotics

may play a role in the etiology of ASD. Animal studies [83, 84] and case studies [85, 86]

reflect findings that valproic acid as well as other anticonvulsants may increase ASD

risk. This is an interesting association, as these same drugs may prove therapeutic for

non-epileptic children who suffer from ASD [87-89].

There are also some preconception factors that may be associated with development of

ASD. For instance, in the 1970s the idea that environmental exposure to certain

chemicals arose [90]. This hypothesis was revisited in the 1990s when parents without

incidence of ASD who lived close to plastic manufacturing plants appeared to have a

higher incidence of children with ASD [91]. However, upon examination, the

Massachusetts Department of Public Health concluded that further investigation of the

cases in question was not needed [92].

While preconception chemical exposure factors have not been thoroughly explored,

hypotheses of postnatal chemical exposures have been more thoroughly investigated,

primarily through looking at case studies. However, epidemiologic evidence for specific

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postnatal environmental exposure that in turn leads to development of ASD is not

substantial. One of the more comprehensive investigations into the matter was

conducted in Brick Township, New Jersey, where there was a high local presence of

ASD near local landfills. This raised concerns that landfills were leaching chemicals into

the drinking water or into local swimming areas. The Agency for Toxic Substances and

Disease Registry looked into the possible exposure pathways, as well as evaluated data

on levels of trihalomethanes, tetrachloroethylene, and thrichloroethylene. While these

chemicals were present in the drinking water at various times during the study, the

levels were found to be low or in locations that did not correspond with the locations

being studied or with the timing of the pregnancies being studied [93, 94].

Neuroanatomical AbnormalitiesNeuroanatomical abnormalities in the brains of individuals with ASD provide concrete

evidence that there is a neurobiological component to ASD [95], that the disease is more

than just a behavioral disorder with purely environmental contributions.

The neurobiology of the disorder has been examined since the dawn of the disorder,

and both genetic and non-genetic factors have been shown [96]. However, particular

etiologic factors are as yet undefined. Frontal lobe volume does appear to be decreased

in individuals with autism [97]; there also appears to be a decrease in gray matter (GM)

volume in the orbitofrontal cortex [98] as well as an abnormally thin frontotemporal cortex

[99]. However, conflicting studies [100-102] have reported that GM volume and thickness is

actually enlarged in these areas.

An increase in GM volume has also been indicated in areas involved in communicative

and social functions, to include the dorsal and medial prefrontal regions, the lateral and

medial temporal area, the parietal regions, and the auditory and visual association

cortices [103-106]. Likewise, discrepant white matter (WM) have been indicated in autism,

including regional increases [107-109], as have decreases in cross-sectional areas and the

microstructure of the corpus callosum [110, 111]. Concomitant WM disruptions have been

indicated in prefrontal, superior temporal, temporoparietal cortices and the corpus

callosum, but there have also been observations of an increase in whole brain WM [101,

109]. It is not clear how these anatomic abnormalities related to domain specific cognitive

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impairment in social functioning, emotional functioning, language deficits,

communication deficits, and deficient executive function.

Microscopic observations of the brains of individuals with ASD have discovered reduced

cell size as well as increased cell-packing density (meaning an increased number of

nerve cells per unit volume) in the hippocampus, amygdala, mammillary body, anterior

cingulate gyrus, and medial septal nucleus [112]. These structures are recognized as

being connected to one another by interrelated circuits. They also comprise a major

portion of the limbic system. The limbic system is acknowledged to be important to

emotion and behavior, as well as learning and memory. It also plays a large role in the

integration, processing, and generalization of information. Abnormalities of the limbic

system may account for a lot of the major clinical features of ASD, including language

dysfunction as well as social deficits.

Additionally, abnormalities have

been located in the cerebellum,

where the amount of Purkinje cells

is much reduced, particularly in the

posterior and inferior parts of the

hemispheres bilaterally. The vermis

microscopically appears normal.

Abnormalities have also been seen

in the deep cerebellar nuclei.

These findings appear to vary

along with the age of the patient.

Comparable observations have

been seen in the inferior olivary

nucleus neurons as well as the

neurons of the nucleus of the Diagonal Band of Broca. The fact the the olivary neurons

are preserved even in the face of such markedly reduced number of Purkinje cells

indicates that these brain lesions are likely of prenatal origin.

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[113]

The role of the cerebellum in ASD is not certain. Some studies [112] show that it may play

a role in the modulation of language, attention, emotional affect, mental imagery,

cognition, and anticipatory planning. Therefore, it is likely that the abnormalities in both

the limbic system and the cerebellum are important to understanding the clinical

features of ASD.

Brain enlargement

Brain changes prior to the age of 2 may lead to brain enlargement that in turn leads to

ASD. One study conducted by University of North Carolina (UNC) researchers found

that children with ASD who had enlarged brains at the age of 2 years also had enlarged

brains at the ages of 4 and 5. However, their brain growth was not markedly different

than it had been at 2 years old.

Researchers conducted their original study in 2005, with a follow-up study conducted in

2011. In 2005, researchers discovered that 2-year-old participants with ASD had brains

that were up to 10% larger than those of children at the same age that did not have

ASD. The follow-up study indicated that the children with ASD continued to have brain

enlargement in subsequent years, but at the same level they had it at 2 years old. This

finding led researchers to conclude that the changes they detected at the age of 2 were

due to growth prior to that time period. Additionally, the study discovered that the

enlargement was affiliated with an increase in folding on the surface of the brain, not an

increase in gray matter. Researchers posit that this increase is more than likely genetic

and results from “an increase in the proliferation of neurons in the developing brain” [114].

The researchers suggest that the brain overgrowth may be occurring around the child’s

first birthday.

Another study conducted by the University of California Davis MIND Institute indicated

that those children who were later diagnosed with ASD were found to have an excess of

cerebrospinal fluid as well as enlarged brains in infancy. This brought up the possibility

that these types of brain abnormalities may serve “as potential biomarkers for the early

identification of the neurodevelopmental disorder” [115]. The study is the first to link the

excess of cerebrospinal fluid that existed during infancy to the development of ASD. A

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potential positive outcome to the study is that it would offer practitioners a new way to

positively screen for ASD, because the brain anomaly would be detectable utilizing a

conventional MRI. Therefore, early detection would be possible; this is crucial in

children who have ASD because it allows for timely intervention.

Early intervention offers the most hope in decreasing the behavioral and cognitive

impairments associated with ASD and increasing positive long-term outcomes. This

study was conducted on 55 children who were between 6 – 26 months of age. Thirty-

three of these children had an older sibling who had an ASD. Twenty-two were children

who had no family history of ASD. Researchers indicated that the brain anomaly was

more significantly detected in those infants who were high risk and who were later

diagnosed with ASD between 24 and 26 months of age.

Another study [116] examined abnormal brain growth and onset status: early onset or

regressive onset. This particular study examined 2 – 4 year olds whose status was

either non-regressive (n = 53) or regressive (n = 61). There was also a control group of

non-affected 2 – 4 year olds (n = 66). Researchers discovered that abnormal brain

enlargement was most commonly discovered in boys with regressive ASD. Brain size in

boys who were non-regressive did was not different from the control group.

Retrospective head circumference measurements were also taken, and it was

discovered that head circumference in boys with regressive ASD is normal at birth but

then diverges at around 4 – 6 months of age. Girls who have autism do not have any

difference in brain size from those in the control group. Researchers posit that these

results indicate that there could be certain neural phenotypes that are associated with

the different types of onset of ASD. For instance, the rapid head growth may be a risk

factor for regressive type ASD.

Environmental FactorsThere are several environmental factors that may be associated with the development

of ASD. One of these is childhood infection. There have been reports of sudden onset

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of ASD symptoms in older children following herpes encephalitis [117-119]. There are other

infections that can result in secondary hydrocephalus; for example, meningitis. These

infections may lead to development of ASD [120]. One study indicated that mumps,

chicken pox, fever of unknown origin, and ear infections were significantly associated

with an increased risk of development of ASD [121].

Some vaccinations may also increase the risk for development of ASD. A paper

published in 1998 indicated that the measles-mumps-rubella vaccine might be linked to

ASD development [122]. However, epidemiologic studies have not provided evidence that

supports a link between the vaccine and the risk of developing ASD [123-127]. Similarly,

case study comparisons do not find any indication of post-vaccination increase in risk of

developing ASD [123, 128]. Further, a population based retrospective study that included

more than half a million children from Denmark who were born between 1991 and 1998,

82% who had received the measles-mumps-rubella vaccine, discovered no association

between the vaccine and development of ASD [129].

There are additional concerns over vaccines and ASD, which stem from the usage of

thimerosal, which is a preservative that contains ethylmercury. Ethylmercury is itself

similar to methylmercury, which is a known fetal neurotoxin that can cause severe brain

injury at high doses and leads to developmental delays and dysfunction at lower doses

[130]. There is limited data that suggests that higher doses of ethylmercury is similar to

higher doses of methylmercury [131, 132], and there is no data on low dose exposure to

ethylmercury. There is not much data on the association to date.

Data from the Vaccine Safety Datalink of the Centers for Disease Control and

Prevention indicates weak association between thimerosol related exposure to mercury

and related neurodevelopmental disorders, but not association to ASD itself [133].

Existing evidence is considered to be inconclusive. Although Thimerosal has been

removed from vaccines, there are still many individuals alive with ASD who have

received vaccinations that contained thimerosal.

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Other environmental factors include birth complications, including umbilical cord

complications, fetal distress, injury or trauma during birth, multiple births, maternal

hemorrhage, summer births, low birth weights, congenital malformations, low 5-minute

Apgar score, feeding difficulty, neonatal anemia, meconium aspiration,

hyperbilirubenemia, and ABO or Rh incompatibility [134]. Parental age at the time of

conception is also a factor; and, this includes the age of both parents. One study [135]

indicated that firstborn children of 2 parents who were older were 3 times more likely to

develop ASD than were third or later born children of mothers who were 20 – 34 years

of age and fathers who were <40 years of age. Therefore, the risk of ASD increases

with both maternal and paternal age.

Another environmental risk factor may be waiting less than a year between

pregnancies. One study [136] indicated that pregnancies that are closely spaced are

associated with an increase in ASD. The study examined pairs of first and second born

siblings in California that occurred between 1992 and 2002 and examined ASD

diagnoses in these siblings. Results of the study indicated that children who were born

after shorter intervals between the pregnancies were at an increased risk of developing

an ASD, with the highest risk being associated with pregnancies that were spaced less

than a year apart.

One more environmental risk factor may be not taking prenatal vitamins, as taking

prenatal vitamins has been shown to slightly reduce the odds that a child will develop

ASD. One study examining Northern California families enrolled in the Childhood

Autism Risks from Genetics and Environment (CHARGE) study [137] concluded that

mothers who had children with ASD were less likely than were mothers of non-affected

children to have taken a prenatal vitamin during the 3 months prior to pregnancy or in

the first month of pregnancy. This led researchers to conclude that the peri-conceptional

use of prenatal vitamins may reduce risk of birthing a child with ASD, particularly in

those who are already genetically susceptible to ASD.

What is important to note regarding environmental risk factors is they do not affect a

child in a vacuum. Many children are exposed to environmental risk factors without

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developing ASD. This leads researchers to conclude that if a child is genetically

predisposed to ASD, for example, then these types of environmental risk factors may

increase the risk of development of an ASD. Studies have indicated that there are other

environmental factors - such as the maternal use of antipsychotics and mood

stabilizers – that may increase the risk of development of ASD. However, the risk must

also be weighed against the mother’s need, which can also affect the health of the child

she will be having. Additionally, most risk factors that are not yet well documented may

only increase the risk of development of ASD slightly as compared with other risk

factors, such as genetic predisposition, making it difficult to pinpoint how, exactly,

environmental factors contribute to the larger overall picture of each single ASD

diagnosis.

DIAGNOSIS

Differential DiagnosisDiagnosing ASD is no easy task, particularly since ASD may mimic other disorders, and

vice versa. Hence, what is required of practitioners is making a differential diagnosis, or

differentiating between conditions that share symptoms. One such example is ASD and

ADHD, which look remarkably similar.

The CDC [138] has released a handout outlining differences to allow practitioners to

make a differential diagnosis between ASD and commonly confused conditions. These

conditions are as follows:

Developmental delays and intellectual disabilities:

Those with intellectual disabilities or developmental delays may display autistic features

but may not meet the criteria for ASD. Those with ASD may have an intellectual

disability or be of normal intelligence. Those with intellectual disability generally have

better social and communication skills than do those with ASD who are of the same

cognitive level.

Fetal alcohol syndrome disorders:

There is an increase in risk of ASD as well as other neurodevelopmental disorders in

those children who were exposed to alcohol in utero.

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Genetic syndrome:

There may or may not be a family history, although this is dependent upon the specific

disorder. Should dysmorphic features be present, genetic disorders should be

considered. There are certain neurogenetic disorders that tend to be associated with

ASD; and, these include the following:

Fragile X – this includes intellectual disability, large ears, macrocephaly, large

testicles, hyptonia, and joint hyperextensibilty.

Tuberous sclerosis – this includes hypopigmented macules, seizures, central

nervous system hamartomas, and intellectual disability.

Angelman syndrome – this includes developmental delays, wide-based ataxic

gait, progressive spasticity, hypotonia, and seizures.

Rett syndrome – this is a disorder mainly seen in girls. There is an apparently

normal development over the first 5 – 48 months of life that then results in

microcephaly. The child then loses the previously acquired hand skills and often

develops hand wringing stereotypies. Frequently seizures develop.

Hearing impairment:

Often this can be due to a history of fluid or recurrent otitis media. Those with hearing

impairments frequently have speech delays but typically may use a compensatory

nonverbal type of communication. These children will make eye contact and utilize facial

expression. Those with ASD however can sometimes be described as having selective

hearing (they may not respond if someone calls their name, but they become overly

sensitive to other noise). Those with hearing impairments are generally under-

responsive to all noises, although this may be somewhat variable dependent upon the

degree of hearing loss.

Mental Health Disorders:

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Mental health disorders is a fairly broad category of differential diagnoses with variable

symptomology that depends upon the specific diagnosis. Some of the diagnoses not

uncommonly seen in individuals with ASD are outlined below:

Obsessive compulsive disorder (OCD) – The obsessive thoughts and repetitive

actions seen in obsessive compulsive disorder may appear very similar to the

kinds of ritualistic behaviors and motor stereotypies seen in ASD.

Anxiety disorders – those with anxiety problems may be hesitant to interact with

other people. They may have problems with change or transitions. Those with

anxiety are still socially related, however, and they still have appropriate social

insight, whereas someone with ASD does not.

Depression – Depression may present in a variety of ways, and particularly in

children. Children may be withdrawn or they may isolate themselves from others.

They may display a blunted affect and avoid eye contact, which are all signs of

ASD as well.

Attention deficit hyperactivity disorder (ADHD) – Those with ADHD can have

impairments in social skills as a result of hyperactivity or impulsivity. They may

have a hard time sustaining a conversation as a result of inattention. Those with

ASD also often have issues with hyperactivity, impulsivity, and inattention.

Oppositional defiant disorder (ODD) – The behavioral problems seen in those

children with ODD are generally intentional. Many children will have temper

tantrums at some point; however, children who have ASD are more likely to have

tantrums that are associated with anxiety that results from transitions or tantrums

that appear to be for no reason.

Tourette syndrome - The tics seen with Tourette syndrome may appear to be

similar to some of the motor stereotypies seen with ASD. Those with Tourette

syndrome will generally not have the social or communication problems seen

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with ASD though. However, there may still be some isolation due to

embarrassment or avoidance of peers, which should be taken into account.

Psychosocial factors are important to consider when evaluating individuals with ASD

and co-occurring mental illness, for example, issues of abuse and neglect. Those who

have a history of psychosocial factors such as neglect or abuse may be very withdrawn

or hesitant to interact with other people. They may also display skills regression, such

as a loss of language, or they may display behavioral problems.

Sensory problems:

Those with ASD often times have sensory issues such as being hypersensitive to loud

noises or avoiding certain textures in foods. A person without ASD but who has sensory

impairments will not have the accompanying social and communication impairments.

Speech and language disorders:

Those with speech and language disorders will compensate with nonverbal forms or

communication. These nonverbal compensations include pointing and gestures. There

is a lack of severe social deficits, although there may be some social impairment that

results from communication difficulties. In a person with ASD, nonverbal communication

and social skills is often lacking.

Level 1 ScreeningEvidence based recommendations for routine Level 1 developmental screening for ASD

are important in the evaluation and treatment planning phases [139]. Providers and

nurses need to be knowledgeable and consistent about the following when caring for

the individual with ASD:

Developmental observation should be conducted at all well child visits from

infancy on through school age and at any age thereafter if there are concerns

that are aroused regarding social interactions, learning, or behavior.

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The recommended developmental screening tools include: Ages and Stages

Questionnaire, BRIGANCE(R) Screens, the Child Development Inventories, and

the Parents’ Evaluations of Developmental Status.

Further evaluation is needed should a child fail to meet any of the following

milestones:

o Failure to babble by 12 months

o Failure to gesture – such as pointing or waving goodbye by 12

months

o Failure to speak in single words by 16 months

o Failure to speak in two word spontaneous phrases by 24 months

o Loss of language or social skills at any age

Siblings of those children who have ASD must be carefully monitored for

acquisition of social, play, and communication skills as well as the occurrence of

maladaptive behavior. Screenings should be conducted not only for ASD related

symptoms but also for learning difficulties, language delays, social problems, and

anxiety and depressive symptoms.

ASD screening should be conducted on all children who have failed routine

developmental screening procedures utilizing one of the validated instruments:

the Checklist for Autism in Toddlers (CHAT) or the Autism Screening

Questionnaire.

Laboratory investigations that are recommended for all children with

developmental delays or ASD include audiological assessments and screening

for lead exposure. Early referrals for assessments should include behavioral

measures, assessments of middle ear function, and electrophysiological

procedures. Lead screening should be conducted in any child who has

developmental delay and pica, and additional periodic screening should be

conducted if the pica (an abnormal craving for non-food substances, i.e. dirt,

paint or clay) persists.

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Level 2 EvaluationEvidence based recommendations for routine Level 2 diagnosis and evaluation for ASD

involve the following [139]:

Genetic testing in children with ASD, in particular high-resolution chromosome

studies and DNA analysis for Fragile X should be performed should there be a

presence of mental retardation or if there is a family history of Fragile X or an

undiagnosed mental retardation, or if there are dysmorphic features present.

Selective metabolic testing should be performed if the following are present:

lethargy, cyclic vomiting, or early seizures, or if evidence of mental retardation is

evident or cannot be ruled out.

There is no evidence at the moment to indicate that routine clinical neuroimaging

can assist in evaluating or diagnosing ASD. Additionally, there is not sufficient

evidence to support the idea that hair analysis, celiac antibodies, allergy test,

thyroid function tests, or erythrocyte glutathione peroxidase studies can assist in

evaluation or diagnosis.

Another important consideration in the evaluation and treatment of individuals with ASD

relate to Consensus Based Principles of Management [139]. There are some

recommendations that are based on consensus agreement, and, these are listed below.

Surveillance and Screening:

In the United States, states are required to follow Public Law 105-17, the Individuals

with Disabilities Education Act Amendments of 1997-IDEA’97, which orders “immediate

referral for a free appropriate public education for eligible children with disabilities from

the age of 36 months, and early intervention services for infants and toddlers with

disabilities from birth through 35 months of age” [139].

Diagnosis:

The diagnosis of ASD should include the usage of an instrument that has at the least a

good specificity for ASD and a moderate sensitivity. Sufficient time should be allotted for

standardized parental or caregiver interviews regarding concerns and child behavioral

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history, as well as time given to direct and structured observation or social and

communication interactions and play.

Recommended instruments include the use of rating scales and diagnostic parental

interviews; examples are outlined below:

The Gilliam Autism Rating Scale:

This is an instrument that assists both parents/caregivers and practitioners in

identifying and diagnosing ASD by examining stereotyped behaviors,

communication, and social interaction in individuals. This assessment consists of

42 items that describe behaviors characteristic of individuals with ASD. The

assessment is utilized for identification of ASD in individuals, of the ages 3

through 22 years.

The Parent Interview for Autism:

This assessment was designed to measure ASD symptom severity across a wide

range of behavioral domains. The main point of this assessment is to assess

behavioral change in young children.

The Pervasive Developmental Disorders Screening Test – Stage 3:

This assessment may actually screen for several ASD disorders in children as

young as 18 months. This assessment is designed to be a parental reporting

measure, and the assessment facilitates early identification in order to offer

parents, caregivers, and practitioners the opportunity to implement early

intervention methods.

The Autism Diagnostic Interview-Revised:

This assessment is a structured interview that is utilized for diagnosing ASD as

well as distinguishing ASD from other developmental disorders and planning

treatment. The assessment is designed for children and adults with a mental age

above 2 years.

Diagnostic Observation Instruments (these are differentiated further as):

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o The Childhood Autism Rating Scale:

This is a behavioral rating scale frequently utilized to diagnose ASD. The

scale rates children on a scale of 1 through 4 on various criteria and

comes up with a composite score that rates the child from non-autistic to

severely autistic.

o The Screening Tool for Autism in Two-Year-Olds:

The STAT is an empirically based, interactive measure developed to

screen for autism in children between 24 and 36 months of age. It is

designed for use by community service providers who work with young

children in assessment or intervention settings and who have experience

with autism.

o The Autism Diagnostic Observation Schedule-Generic:

This assessment is observation based and examines the social and

communication based behaviors that are frequently delayed in those that

have ASD. The assessment consists of four 30-minute observational

sessions that contain communication, socially interactive, play, and

imaginative elements to test the child.

Medical and neurologic evaluation of the individual with ASD should include the

childhood developmental history and milestones. Also, the history should reflect if there

was regression in early childhood or later on in life; encephalopathic events, attention

deficits, seizure disorders, depression or mania, behaviors such as irritability, self-injury,

sleep or eating disturbances, or pica. A neurologic and physical examination in the child

should include: longitudinal measurements of the circumference of the head as well as

examination of the head for unusual features that may suggest a need for a genetic

evaluation, neurocutaneous abnormalities, gait, reflexes, tone, cranial nerves, and a

determination of mental status that includes verbal and nonverbal language and play.

Evaluation and monitoring of ASD involves multivariate considerations and approaches,

as well as interdisciplinary ASD specialists to ensure best outcomes. Both the

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immediate and long term evaluative and monitoring approach of those who suffer from

ASD requires a multi-disciplinary approach which may include one or more of the

following professionals: psychologists, speech-language therapists, neurologists,

audiologists, pediatricians, occupational therapists, child psychiatrists, and physical

therapists. In addition, educators or special educators may also be involved. Those

individuals who have mild ASD must also receive adequate assessment and diagnosis.

Re-evaluation within 1 year of the initial diagnosis and continual monitoring is one

expected aspect of clinical practice. While there is not a need to repeat extensive

diagnostic tests, follow-up visits may be helpful when it comes to addressing behavioral,

environmental, and developmental concerns. Common and helpful evaluations and

developmental tests for ASD are highlighted below:

Speech, language, and communication evaluation:

A speech, language, and communication evaluation should be conducted on all

children who fail a language developmental screening conducted by a speech-

language therapist who is trained in evaluating children who have developmental

disabilities. Comprehensive assessments of pre-verbal and verbal individuals

should take into account such factors as age, cognitive level, and socio-

emotional ability. These assessments should examine receptive language and

communication, expressive language and communication, voice and speech

production, and the collection and analysis of spontaneous language.

Cognitive and adaptive behavioral evaluations:

A psychologist or other trained practitioner should conduct cognitive evaluation

on all children with ASD. Cognitive instruments must be appropriate for both the

chronological and mental age and provide a full range of standard scores and

current norms that are independent of social ability, include independent

measures of both nonverbal and verbal abilities, and provide a full index of

ability. A measure of adaptive functioning must be collected for any child who has

been evaluated as having an associated cognitive handicap.

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Sensorimotor and occupational therapy evaluations:

An evaluation of sensorimotor skills should be considered. A qualified

professional such as an occupational therapist or physical therapist should

conduct this assessment. The assessment should include an examination of both

gross and fine motor skills, sensory processing abilities, praxis, unusual and

stereotyped mannerisms, and the impact of all of these on the individual’s life.

An occupational therapy evaluation is suggested when the deficits that are

present exist in functional skills or in the areas of leisure/play, self-maintenance

in daily living activities, or in productive school or work tasks. Sensory Integration

and Praxis Tests may be utilized on a case-by-case basis to detect certain

patterns of sensory integrative dysfunction, although these are not always

routinely warranted in all evaluations of those children who suffer from ASD.

Sensory Integration and Praxis Test (SIPT):

This assessment is a battery of 17 subtests that require children to perform a

variety of motor tasks, either visual, tactile, kinesthetic, or motor, to assess

sensory integration. The assessment is intended for ages 4 years through 8

years, 11 months [139].

Neuropsychological, behavioral, and academic assessment:

These types of assessments should be performed on an as needed basis in

addition to cognitive assessments. These assessments should include

relationships and social skills, educational functioning, learning style, problematic

behaviors, sensory functioning, self-regulation, motivation and reinforcement.

There should also be an assessment of family resources performed by a

qualified psychologist or other professional to include an assessment of the

parent or caregiver’s understanding of their child’s condition as well as familial

strength and talents, stressors and adaptations, and supports and resources.

This also offers the practitioner the opportunity to offer the family the proper

counseling and education.

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Psychological Assessment Tools

Autism Diagnostic Interview – Revised (ADI-R)

The Autism Diagnostic Interview – Revised (ADI-R) is a clinical diagnostic tool utilized to

assess autistic disorder in both children and adults [140]. The ADI-R offers a diagnostic

algorithm for autism that is described in the ICD-10 and in the DSM. This diagnostic tool

focuses on autistic behaviors in 3 primary areas: qualities of reciprocal social

interactions; communication and language, and; restricted and repetitive stereotyped

interests and behavior. The ADI-R is appropriate for use in with children and adults who

have a mental age of 18 months and older.

The tool contains 93 items. Beyond the three main areas of focus the tool also includes

other areas relevant for treatment planning; for example, self-injury or over-activity.

Responses to items are scored by a clinician, which is based on the parent or caregiver

description of the child or adult individual behavior. Items are organized around content

area, with definitions of behavioral items being provided. For example, in the area of

communication, “Delay or total lack of language not compensated by gesture” [140] is

broken down further into behavioral items that are specific, such as pointing to items or

expressing interest, nodding or the head, or expressing conventional gestures.

All items in the ADI-R ask about current behavior. The exception to this is found with a

few behaviors that only occur within specific age periods. In these items, specific age

limitations are given. For instance, items that ask about group play are referring only to

behavior displayed between ages 4 and 10. In addition to inquiring about current

behavior, items focus on time periods in which behaviors are likely to be pronounced –

this is generally between the ages of 4 to 5 years of age.

The tool begins with an introductory question that is followed by questions about the

participants’ early development. After the introductory question, the following 41

questions regard verbal and nonverbal communication. Questions 50 – 66 specifically

regard social development and play. There are included questions that regard interests

and behaviors; and, there are 14 questions that regard “general behavior”. The final 14

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questions in the ADI-R include questions about motor skills, memory skills, over-activity

and fainting.

The ADI-R tool generates scores in each of the three main content areas as stated

above. Elevated scores are indicative of problematic behavior in that particular area.

Scores are based on a clinicians’ judgment, with a clinician giving a score of 0 – 3 for

each item: a score of 0 is awarded when “behavior of the type specified in the coding is

not present”; a score of 1 is awarded when “behavior of the typed specified is present in

an abnormal form, but not sufficiently severe or frequent to meet the criteria for a 2”; a

score of 2 is indicative of “definite abnormal behavior”, and; a score of 3 indicated

“extreme severity” of the behavior in question [140]. Additionally, there are also scores of

7, which indicates “definite abnormality in the general area of the coding, but not of the

type specified; scores of 8, which indicates “not applicable”, and; scores of 9, which

indicates “not known or asked” [140]. All of these scores are converted to 0 in the

algorithm.

A child is classified as autistic when the scores in all three main content areas meet or

exceed certain specified cutoffs and the onset of autistic spectrum disorder is evident by

36 months of age. The same algorithm is utilized for children who have mental ages of

18 months through adulthood, with 3 versions that contain minor modifications, which

are:

A life-time version

Version that is based on current behavior

Version utilized for children under age 4

This algorithm specifies a minimum score in each main content area to lead to a

diagnosis of autism.

There are some practical issues to consider when utilizing this diagnostic tool; such as,

this interviewer-based tool requires quite a bit of training in both administration and

scoring. The test, however, when administered by a well-trained professional, only takes

approximately 90 minutes for children and slightly longer for adults. The test has a

strong background of internal validity as well as inter-rater and test-retest reliability [140].

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Autism Diagnostic Observation Schedule (ADOS)

The Autism Diagnostic Observation Schedule (ADOS) is a semi-structured assessment

tool that examines communication, social interaction, and play in individuals who are

suspected of having autism spectrum disorders [141]. ADOS consists of four different

modules, each of which is appropriate for use for testing on children and adults of

different developmental and language levels.

The ADOS is a standardized testing tools and is comprised of standardized activities

that allows the administrator to observe the presence or non-presence of behaviors that

have been determined to be important to extending a diagnosis of ASD. The test is

administered through the administrator selecting the module that is most appropriate for

the individual’s language level and chronological age. The participant’s response is then

recorded within each module and overall ratings are made at the end of each schedule.

The ratings may then be utilized to formulate a diagnosis by way of utilizing an algorithm

for each module.

The ADOS basically provides a 30 – 45 minute observation period in which the

administrator of the test presents the participant with a number of opportunities to

exhibit typical ASD behaviors by pressing the individual to communicate through social

interaction and language skills [141]. The modules offer social-communicative sequences

that unite a series of both unstructured and structured situations, each of which offers a

different combinations of the above-mentioned presses for social behaviors.

Module 1 is designed for individuals who do not regularly utilize “phrase speech” [141].

Materials in this module have been selected for younger children, although materials

from other modules may be substituted if the administrator so desires. Module 2 is

designed for individuals who have some phrase speech but do not possess verbal

fluency. Module 3 is designed for individuals who are verbally fluent, which is defined as

“having the expressive language of a typical four-year-old child” [141]. Module 3 also

includes tasks such as playing with age appropriate toys – this typically encompasses

up to ages 12 – 16. Module 4 is much the same as module and includes many of the

same tasks; and, Module 4 is intended primarily for verbally fluent adolescents and

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adults. The biggest difference between module 3 and module 4 is in whether

information about social communication is more suitably acquired during playtime or

during a conversational interview.

The four modules overlap in terms of activities and together they contain a variety of

tasks. These tasks range from observing the way a young child requests that the

administrator continue to blow up a balloon in Module 1 to a conversation about a social

relationship in Module 4. Modules 1 and 2 are frequently conducted whilst moving about

different places in a room whereas Modules 3 and 4 are frequently conducted whilst

sitting at a table and consist of more conversation and language that do not come along

with physical context. The superficial appearance of each of the different modules may

seem quite varied; however, the general principles involved in the deliberate variation of

the administrator’s behavior when it comes to utilizing a hierarchy of both structured and

unstructured behavior remain the same. Standardization lies in this hierarchy of

behavior that is employed by the administrator and the types of behaviors that are taken

into consideration in each activity during the ratings. The activities work to structure the

interaction.

The ADOS offers practitioners the opportunity to observe social and communication

behaviors in standardized and well documented contexts, and the primary goal of the

ADOS is to provide a standardized context in which to observe social and

communicative behaviors of participants across the life span in order to aid with

diagnosis. For diagnostic purposes, use of the ADOS should also be accompanied by

other information, in particular a detailed observational history from parents or

caregivers when possible.

Other questionnaires

There are a number of other developmental and behavioral screening tools available.

These include the following:

Ages and Stages Questionnaire (ASQ-3):

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The ASQ-3 covers ages 1 month through 66 months. There are 21

questionnaires and scoring sheets for the following childhood ages: at 2, 4, 6, 8,

9, 10, 12, 14, 16, 18, 20, 22, 24, 27, 30, 33, 36, 42, 48, 54, and 60 months of

age. The ASQ-3 screens several different areas, which include communication,

fine motor, gross motor, personal and social skills, and problem solving. The

ASQ-3 is completed by parents and caregivers and is scored by a professional or

clerical worker trained at scoring the assessment [142].

Ages and Stage Questionnaire: Social-Emotional (ASQ:SE):

The ASQ:SE covers ages 3 through 66 months. There are 8 questionnaires for

use at 6, 12, 18, 24, 30, 36, 48, and 60 months of age. The ASQ:SE screens

several different areas, including self-regulation, communication, autonomy,

interaction with people, compliance, adaptive behaviors, and affect. The ASQ:SE

is completed by parents or caregivers and is scored by a professional [143].

Brief-Infant-Toddler Social-Emotional Assessment (BITSEA):

The BITSEA covers ages 12 months through 36 months. The BITSEA is a social

emotional screener that may be administered by a parent or caregiver and is

scored by a professional with a minimum qualification of a Master’s degree in a

related field [144].

Child Development Inventory

The Child Development Inventory covers ages 0 through 6 years and is a 300-

item questionnaire that parents may complete either in the home or in a

professional’s office. The purpose of this assessment is to record observations of

the child’s behavior. This assessment screens several different behavioral areas,

including social, gross motor, fine motor, self-help, language comprehension,

expressive language, numbers, and letter.

The assessment also includes a General Development Scale as well as 30 items

designed to identify a parent or caregiver’s concerns about their child’s growth,

health, hearing, vision, behavior, and general development [145].

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CSBS DP Infant-Toddler Checklist:

The CSBS DP Infant-Toddler Checklist is designed to assess children ages 6

months through 24 months. Components include a 1 page Infant-Toddler

Checklist, a 4 page Caregiver Questionnaire, and a Behavior Sample, which is

conducted while the parent and child interact. The CSBS DP Infant-Toddler

Checklist screens several different language predictors, including emotion and

eye gaze, gestures, words, object use, communication, sounds, and

understanding. Caregivers or professionals who are trained to assess young

children, such as speech language therapists or early interventionists, conduct

the assessment; a professional scores the results [146].

Parents Evaluation of Developmental Status (PEDS):

PEDS is an assessment designed for children ranging in age from 0 through 8

years. PEDS is considered one of the most brief, yet accurate, methods for early

detection of ASD. The screening consists of 10 short questions that parents

complete. PEDS helps parents decide the following:

o If a child needs a developmental or mental health assessment, and if they

do, then a determination is made of the kind of testing needed.

o If parents need advice, a determination is made on what topics for which

advice is required.

o If a child needs to be watched over time to offer prompt attention for

emerging potential problems.

o Whether or not reassurance and monitoring is what is required or if there

is something more that is required.

All children at high risk on PEDS should be referred and monitored. PEDS takes

only approximately 2 minutes to complete and may be completed even in

practitioners’ waiting rooms. There is a high specificity to this assessment.

Further, PEDS is an assessment that may be administered online [147].

Parents Evaluation of Developmental Status-Developmental Milestones

(PEDS:DM):

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The PEDS:DM is an assessment designed for children from 0 to 7-11 years of

age. This assessment may be used either with the original PEDS assessment or

on its own. Each item assesses a different developmental domain, including fine

motor and gross motor skills, expressive and receptive language skills, self-help,

social-emotional skills, and for those children who are older, skills such as

reading and math. If there is failure on an item it often predicts difficulties in that

domain.

The assessment is designed with a high specificity and to provide clear criteria

regarding when to refer. There is value in utilizing the PEDS and PEDS:DM

together, as the two assessments combined have only 16 to 18 questions to

answer per visit. The assessment is designed to address parental or caregiver

concern as well as focus the visit. It also helps ensure collaboration between the

parent and the practitioner in that it puts the two together on the same page in

terms of where treatment is headed [148].

Social-Emotional Growth Chart

The Social-Emotional Growth Chart takes approximately 10 minutes to

administer and is appropriate for ages 0 through 42 months. The assessment

consists of a questionnaire that is to be completed by the parent, caregiver or

educator in order to help the practitioner come to an understanding about how

the child utilizes all of his or her capacities to deal with feelings, meet needs,

think, and communicate with others. The questionnaire contains 35 items that are

ordered developmentally and according to the age at which the item is usually

mastered. The items are rated utilizing a 5-point scale. This assessment is given

as a preliminary step and is utilized for early identification of ASD. It may be

utilized to determine if further assessment or a referral is needed and may also

help in monitoring growth or in planning intervention [149].

Modified Checklist for Autism in Toddlers (M-CHAT):

The M-CHAT is designed for children ages 16 through 30 months. This

assessment is administered to assess a toddler’s risk of development of ASD

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and may be administered by parents, caregivers, or practitioners. The main fault

of the M-CHAT is that it has a high rate of false positives; this stems from the fact

that one of the main goals of the assessment is to maximize specificity.

Therefore, not all children who score as being at risk for ASD will actually be

diagnosed with ASD. To adequately address this issue, a structured follow-up

interview should be conducted following the administration of this test [150].

Autism Spectrum Screening Questionnaire (ASSQ):

The ASSQ is a 27-item checklist that may be completed by parents or caregivers

that is designed to assess children ages 7 through 16. This assessment is

designed to examine symptoms that are characteristic of high functioning ASD,

such as Asperger syndrome, in those children who have either normal

intelligence or mild mental disability [151].

Social Communication Questionnaire (SCQ):

This assessment is designed to assess children ages 4 and older and is a cost

effective way to screen for ASD, so long as the individual’s mental age exceeds 2

years of age. The SCQ assists in evaluating communication skills as well as

social functioning in those children who may have ASD. A parent or caregiver

completes the assessment. This assessment may be completed under ten

minutes. The SCQ is available in two formats – Lifetime format and Current

format. Each of these formats is composed of 40 yes or no questions.

The Lifetime format focuses on the child’s developmental history. The Current

format moves from developmental history to the child’s present status and

examines the child’s behavior over the most recent previous 3 months. The

purpose of the Lifetime format is to aid in screening and referral. The purpose of

the Current format is to aid in treatment planning, educational intervention, and to

map and measure changes over time. The SCQ may also be utilized to compare

symptoms across groups – for example, to compare symptoms across groups of

children with a variety of language disorders [152].

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ASD AND CO-MORBIDITIES

EpilepsyASD and epilepsy often co-occur. Approximately 30% of those children with autism

have epilepsy, and approximately 30% of those children with epilepsy have autism [153].

When these two disorders co-occur they are often also associated with intellectual

disability. While both ASD and epilepsy are considered heterogeneous disorders with

multiple pathophysiologies and etiologies, there may still be some common underlying

pathophysiological mechanisms that can help to explain why these two conditions

frequently co-occur. For example, it has been proposed that both ASD and epilepsy are

disorders of synaptic plasticity that result in excitation and inhibition imbalances in the

developing brain. Synaptic plasticity refers to the process where synapses, which are

the connections between two neurons, get strengthened through experience or practice.

Synaptic plasticity relies on a variety of proteins whose genes are interrupted in certain

genetic conditions that are associated with autism and epilepsy. Many of these

conditions are also co-morbid with ASD and epilepsy and include such conditions as

Rett Syndrome, Fragile X, and tuberous sclerosis [154].

The effect of seizures and epileptogenesis on the developing brain is important to

understand. There are a number of possible effects of seizures and epileptogenesis on

the developing brain on synaptic plasticity. Emerging evidence indicates that seizures

that occur early on in life may alter the functioning of neurotransmitters and intrinsic

neuronal properties of the brain, which may possibly contribute to cognitive impairments

as well as learning impairments.

Gamma-Aminobutyric acid (GABA) is the primary inhibitory neurotransmitter in the

brain, and the GABA-A receptors are those that mediate most fast synaptic inhibition.

Changes in inhibitory neurotransmission have been known to affect learning, a common

difficulty seen in those with ASD [155, 156]. Changes in excitatory neurotransmission can

also lead to behavioral or learning differences after seizures early in life.

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Glutamate is the main excitatory neurotransmitter in the brain, whose activity is

mediated by a number of receptor subtypes, including N-Methyl-D-aspartate (NMDA)

and non-NMDA, ionotropic receptors and metabotropic receptors. Excitatory signaling is

critical for different types of long-term potentiation (LTP) and hippocampal learning. It

has been found in some studies [157, 158] that mutant mice that lack subtypes of α-Amino-

3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) or NMDA receptors have

impaired learning. Further, changes in neuromodulatory pathways can also contribute to

behavioral or learning differences following early-life seizures.

Tuberous SclerosisTuberous sclerosis also frequently co-occurs with both ASD; a high co-occurrence is

also seen with epilepsy. Tuberous sclerosis is a neurocutaneous disorder that is

characterized by benign tumors and mental retardation, as well as epilepsy and autistic

disorder. This syndrome results from mutations of tuberin or hamartin; together these

inhibit the phosphatidyl inositol 3-kinase (PI3) signaling pathway involving the

mammalian target of rapamycin (mTOR) as well as a cascade of other downstream

kinases that stimulate cell growth and proliferation, and protein translation [154].

Mutations of tuberin of hamartin in tuberous sclerosis lead to a hyperactivation of mTOR

and downstream signaling pathways, and results in increased cell growth and

proliferation and abnormal gene expression. The precise mechanisms of ASD in

tuberous sclerosis are not known at this time. However, it is believed that ASD may

stem from persistent seizures that occur early in the development of certain regions of

the brain, such as those responsible for social perception and communication, located

in the left temporal lobe [159]. Further, alterations in expression of certain glutamate and

GABA-A receptor subunit as well as decreases in glutamate transporter GLT-1 may

help bring about imbalances in excitation and inhibition [160, 161].

Sensory Processing DisorderUnusual sensory processing has been reported in ASD [162]; however, most of the

research has been focused on sensory processing disorders in children. Previous

studies show that unusual sensory responses are present in most children who have

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ASD [163]; this has been identified since the earliest description of ASD [164]. These

sensory abnormalities have primarily been described in relation to vision, taste, sound,

touch, and smell [165], to include hyper and hypo sensitivity as well as general sensitivity

overload. Additionally, responses have been reported as early as 6 – 12 months of age

and are considered one of the earliest indicators of ASD in young childhood.

It is accurate that many individuals with ASD focus on details. One study indicates [166]

that this particular trait may lie beneath stereotyped routines as well as repetitive

interests and behaviors. The study examined 29 children who were diagnosed with

either high functioning autistic disorder or Asperger syndrome who had completed the

Embedded Figured Test (EFT). Parents or caregivers completed the Short Sensory

Profile and Childhood Routines Inventory. The study found significant correlation

between the degree of the amount of restricted and repetitive behaviour that was

reported by parents or caregivers and the degree of sensory abnormalities.

Another study that examine sensory processing in adults utilizing the Adult/Adolescent

Sensory Profile (AASP) indicated that 94.4% of the participants being studied reported

extreme levels of sensory processing [162] in at least one sensory quadrant of the profile.

Further, analysis of the patterns of sensory processing impairments suggests that

individuals with ASD may experience extremely different, although severe sensory

processing abnormalities. It is important to note that sensory processing abnormalities

in ASD extend across the lifespan; they are not simply present only in childhood.

Therefore, it is essential that the practitioner treat these issues with care in both children

and adults.

Fragile X SyndromeFragile X syndrome is considered the most frequent form of inherited mental retardation

[154]. Further, those with Fragile X and ASD may have a significantly lower IQ than do

those with Fragile X who do not have ASD. Fragile X frequently presents with ASD as

well as epilepsy. A hallmark of Fragile X pathology is a hyperabundance of dendritic

spines with long, thin and immature morphology [167, 168], and Fragile X is a result of an

expanded triplet repeat in the FMR1 gene.

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Fragile X is a genetic, and therefore medical, diagnosis. This is an important distinction

from ASD, which is a behavioral diagnosis. However, when it is associated with Fragile

X, autism is caused by the genetic changes in the Fragile X gene [169]. This may be

compared to other genetic conditions such as Down syndrome; individuals with Down

syndrome may have related conditions such as autism or hearing loss. If a child is first

diagnosed with ASD and then subsequently diagnosed with Fragile X syndrome, it is

considered that the cause of the ASD is known, the cause being Fragile X.

It is estimated that between 15 – 33% of children who have Fragile X also have ASD

[169]. Many of these children are considered high functioning, as while they do not meet

the criteria for full autistic disorder, they do exhibit autistic like symptoms, such as social

anxiety, poor eye contact, sensory issues, hand flapping, and shyness. ASD is more

common in males with Fragile X than it is in girls with Fragile X. In comparison, it is

estimated between 2 – 6% of children who have ASD also are diagnosed with Fragile X.

This leads researchers to believe that all children with ASD, both male and female,

should be genetically tested for Fragile X as well as other genetic causes of ASD.

Anxiety DisordersThe relationship between ASD and anxiety is not well understood at the moment.

However, it is evident that anxiety is a big problem for a large number of those

individuals who suffer from ASD. One review [170] estimates that comorbidity ranges

from 11 – 84%. Certain variables have an influence on each individual’s experience of

anxiety; these include the type of ASD diagnosis, cognitive function, and level of social

impairment.

There are a number of questions about the presentation and the course of anxiety in

children with ASD, as the development and the course of specific types of anxiety as

seen in ASD patients is not well understood. While the presentation of anxiety in

children with ASD is in some ways similar to the presentation in children without ASD,

some studies [171] have found marked differences. For instance, phobias may be more

common among younger children who have ASD, whereas disorders such as social

phobia or OCD may be more common in adolescents with ASD.

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It is also thought that anxiety symptoms are often overlooked or mislabeled in children

with ASD, primarily because children with ASD frequently lack the ability to express

themselves in an emotionally accurate way. Additionally, it is thought that children with

ASD face unique and considerable challenges as they transition from childhood into

adolescence, as difficulties with social interactions and an awareness that they are

different from others may lead to problems with anxiety, depression, or hostility [172].

Also, for teens with ASD, the new environments and quickly changing routines that

come with high school as well as hormonal and physical changes may prove to be

overwhelming and lead to anxiety [170]. Therefore, it is essential to understand that

anxiety in children and teens with ASD is not only unique but a constantly shifting and

changing dynamic. Understanding this concept will allow for informed development of

adequate treatment options.

It is also essential to consider the degree to which anxiety in children who suffer from

ASD affects relationships with parents and caregivers, as the quality of these

relationships may in turn have an effect on the child’s mood. For example, if the parent

or caregiver of an ASD child handles anxiety in a positive and calm manner, the

relationship may remain positive, lessening the child’s overall anxiety as opposed to

perpetuating it. In other words, there may be a bi-directional influence [172].

Treatment for children with both ASD and anxiety is woefully inadequate. Further

research is needed in this area, in particular in such areas as adapting traditional

approaches such as cognitive behavioral therapy (CBT) to ASD populations. Further,

more thought should be put into the ways individuals with ASD think, behave, and feel

in order to provide them with the very best and most effective treatment [173]. Of the

treatments that are available, a multimodal approach is often considered the best

approach, taking into consideration the child’s learning style, as well as strengths and

limitations. The multimodal approach would include such approaches as individual

therapy, occupational therapy (for children with sensory sensitivities or sensory-seeking

behavior), and school consultations (to add structure), just to name a few approaches.

Medications can sometimes help alleviate severe anxiety as well as complement

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therapy, although medications can affect the ASD brain differently than the normal

brain. Parent education and parental support groups sometimes also help by providing

a stable foundation for the anxious ASD child.

One review maintains that issues with anxiety “likely cause additional social and

developmental impairment above and beyond the impairment caused by the core

difficulties associated with ASD” [170]. The review further points out that ASD conditions

are lifelong conditions and that a large number of individuals with ASD will need

psychiatric care as they progress toward adulthood. Therefore, the need for accurate

diagnosis and treatment of psychiatric conditions in those individuals with ASD is

essential.

Parents and caregivers can assist in diagnosis by being observant of their child’s

behavior at home and school. For instance, the child may start to act out more at home

or school, or may display an increase in repetitive behavior or restrict more. The child

may not be able to report symptoms accurately or could deny feeling anxious, despite

showing symptoms that clearly display a problem, so it is essential that practitioners

instruct parents to be observant to behaviors that are normal or abnormal for their child,

as a child with ASD may not have insight into his or her inner feelings or anxious

thoughts.

Intellectual DisordersIntellectual disorders and ASD co-occur at very high rates. It should also be noted that

the greater the severity of one of these disorders, the more the effect there appears to

be on the other [38]. Intellectual disorders (ID) present cognitive, social, and adaptive

skills deficits. Also, ID is frequently accompanied by stereotyped and challenging

behaviors, such as repetitive behaviors [174]. Comorbid psychopathologies of a number

of types – for example, depression, anxiety, or schizophrenia – may also present

themselves [175]. All of these issues may be problematic for both the individual suffering

from ASD and the practitioner, and these issues can prove to be debilitating [176].

One study [177] speculates that a great deal of the recent advances in ASD treatment

has been with people who have ASD and are intellectually normal. Further, they posit

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that as a consequent, many of those individuals with ID may be overlooked. This is the

case despite the fact that there is knowledge that ID co-occurs with ASD, and this

knowledge has existed for several decades.

It should be noted that those with co-occurrent ID and ASD have different needs than

those individuals who simply have ID or ASD alone. There are therefore 3 distinct

groups present: those with ID, those with ASD, and those with co-occurrent ID and ASD

[178]. Currently, it is difficult to make a clear distinction between symptoms in these

groups. More scale development is required to make this distinction easier.

The combination of ASD and ID offers a number of challenges and deficits across a

range of skills and behaviors that are not only seen in ASD or ID. For example, in

individuals who had “severe and profound” ID with co-occurrent ASD, one study [179]

found that these individuals had greater behaviorally based feeding issues, particularly

where food refusal and selectivity were concerned, as compared to those individuals

who had ID on its own.

Challenging behaviors have also recently seen a great amount of increased study. For

example, researchers have discovered that as IQ decreases, the severity of ASD and

challenging behaviors increases, making ASD and ID major risk factors [180]. Murphy et

al [39] discovered that severe IQ and ASD were correlated with higher rates of

challenging behaviors, but these correlations were not across the board. In particular,

self-injury was correlated to severity of autism [180]. For those children with autism,

functional assessment for challenging behaviors indicated that these behaviors were

maintained through escape or retention of tangible items.

Those children who have co-occurrent ASD and ID do not tend to grow out of

challenging behavior; rather, the challenging behaviors tend to persist of the life span

with persons who have the highest rates of challenging behaviors early in life still having

the highest rates of challenging behaviors later in life. Murphy et al [181] observed this to

be the case in a study of 141 people who suffered severe ID and autistic disorder in a

12-year follow-up study. Practitioners should consider patterns of challenging behavior

to be a high priority, as these problem behaviors occur at a very high rate. However, it is

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important to note that there is still much to be learned. The available research on this

topic is small at the moment but is promising.

Attention deficit hyperactivity disorder (ADHD)Children who have ASD and ADHD have some of the same features, which may

complicate diagnosis [183]. For example, both experience attention deficit and over

activity, behavior problems, and social difficulties. Often, the child is simply diagnosed

with ADHD and a diagnosis of ASD is missed.

To further complicate matters, according to the DSM as well as the ICD-10, a diagnosis

of either autism or Asperger syndrome automatically precludes a diagnosis of ADHD

[184]. However, there is most certainly symptom overlap, as seen in population-based

twin studies [185, 186] as well as a recent epidemiologically based study that reported a

high rate of ADHD in autism and ASD [187]. In the DSM-V the diagnosis of ASD will no

longer preclude a diagnosis of ADHD.

It is estimated that there is an approximate 30% prevalence of ADHD in individuals with

ASD. This is about 6 times higher than the prevalence of ADHD in children and

adolescents worldwide [188]. Further, autistic-like symptoms in those with ADHD are

higher than in children who are healthy [189]. These findings preclude a co-occurrence of

the disorders by chance.

There are risk factors for the development of the combination of ASD and ADHD. One

risk factor is genetics. Both ASD and ADHD are highly heritable neurodevelopmental

disorders. It is estimated that approximately 70 – 80% of the phenotypic variance of

each of these disorders can be explained by genetic factors [190, 191]. Family studies

indicated increased ASD-like symptoms in both affected and non-affected siblings of

ADHD patients, which signifies a familiarity of the co-occurrence of ADHD and ASD

symptoms [189]. Further, according to twin studies, which utilized questionnaire data on

ASD and ADHD symptoms, approximately 50 – 70% of the co-variance of ASD and

ADHD symptoms can be explained by shared genetic factors [185, 186].

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Non-genetic biologic factors also pose a risk. Some studies have started to focus on the

relevance of environmental risk factors for both ASD and ADHD [191]. Some

environmental biologic risk factors increase the risk of both ASD as well as ADHD, and

this supports the thought that both of these disorders may be alternate manifestations of

the same risk factors. Recent studies reported increased rates of ASD-like symptoms in

11 year old, previously pre-term children below 26 weeks of pregnancy [182]. This study

was replicated in adults with ADHD [192]. Additionally, several risk factors related to

pregnancy seemed to simultaneously increase the risk of ASD with a combined

diagnosis of ADHD or ADHD symptoms, such as the use of valproic acid [193], maternal

diabetes [194], pre-eclampsia [195], and viral or bacterial infections [196, 197] during

pregnancy. The majority of these risk factors has only been examined recently and is

not yet well replicated.

Well-replicated factors that are specific to ADHD are pre-pregnancy obesity, which

increases the risk of inattention symptoms [198], and smoking during pregnancy, which in

particular is a risk factor for hyperactive and impulsive behavior. This risk factor also

increases the risk of a comorbid conduct disorder with aggressive behavior in children

who have ADHD [199-201]. Smoking during pregnancy has been excluded as a risk factor

for ASD however. For ASD, increase in paternal age has been shown to be a particular

risk factor [202]. On the other side, younger maternal age seems to be a risk factor

specific to ADHD [200]. The exact mechanism of how these risk factors influence the

developing brain is not yet determined.

Finally, non-genetic psychosocial factors pose a risk. For ASD, these factors have not

yet been adequately defined, whereas for ADHD, several of these risk factors have

been very strongly replicated in longitudinal studies. For example, an association exists

between family conflicts and divorce, maternal depression, paternal antisocial

personality disorder, and lowered familial socio-economic status with increased rates of

ADHD as well as increased symptoms of inattentiveness and hyperactivity and

impulsivity [200, 201]. Therefore, these risk factors appear to be specific to ADHD and may

also increase ADHD symptomology in those children who suffer from ASD.

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In regard to psychosocial risk, the relevance of psychosocial risk factors for comorbid

ASD and ADHD has been indicated by population-based study, wherein a higher area

of deprivation was a specific risk factor for co-occurring ADHD in children who have

ASH [187]. In children with ADHD who also have increased ASD-like symptoms, family

risk factors in one study were predictive of increased ASD-like symptoms [203], which

indicates one of two things: either there is some relevance of psychosocial risk factors

to ASD symptoms in general or there is the possibility that an increase in ASD

symptoms in ADHD may represent a particular ADHD subtype but not the same

disorder as ASD with no ADHD. Therefore, it may be concluded that there are

overlapping factors at play that lead to the comorbid diagnosis of ASD and ADHD.

In examining the new DSM-V rules that allow for a joint diagnosis of ASD and ADHD

[204] the following are highlighted:

Previous versions of the DSM forced practitioners to choose between a diagnosis

of ASD or ADHD, which may have prevented those with both disorders from

receiving the course of treatment they really needed.

The DSM-V is going to allow for a dual diagnosis of ASD and ADHD.

Practitioners will no longer have to qualify symptoms of one disorder or the other;

for example, diagnosing an individual with ASD and calling his or her ADHD

symptoms “ADHD-like” in order to offer treatment for ADHD.

Under the new guidelines, practitioners will be able to directly analyze whether or

not those with a primary diagnosis of ADHD and some ASD symptoms may

benefit from the strategies designed for treating ASD, for example, social,

speech, or occupational therapy. Also, on the other side of things, those who are

diagnosed with ASD but show symptoms such as hyperactivity, inattentiveness,

or impulsivity could benefit from treatment protocols designed to treat ADHD [205].

The new guidelines will allow practitioners to treat children with drugs such as

Ritalin for conditions they can actually diagnose them with. Until now,

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practitioners could not dual diagnose and prescriptions for ADHD medications for

those who have ASD were prescribed as off-label medications being given for

“ADHD-like” symptoms.

In addition to the above a benefit may be seen in clinical studies. Studying those who

have both ASD and ADHD may help researchers identify and design treatments specific

to this group.

MANAGEMENT AND PROGNOSIS

Treatment Goals

Lessen deficits

Once the child has been diagnosed with ASD, the treatment program should begin at

once. As indicated above, over the past 15 years there is evidence that has shown early

intervention programs result in much improved outcomes, particularly when started in

very young children. The reason for this is because a younger child’s brain is more able

to change [206]. However, there is really no single best program for children with ASD to

lessen deficits. The key is to combine interventions, with the goal being to engage the

child’s unique combination of special interests in an effort to keep the child involved with

tasks. Good behaviors should also be positively reinforced.

One key factor to lessening deficits is parental involvement, which is instrumental to the

success of treatment. Its important for parents to work side by side with practitioners in

an effort to learn how therapeutic practices may be continued outside of a clinical

setting. This is because parents are the child’s primary teachers. Therefore, impressing

on the parents how important it is that they remain active and involved in their child’s

care is crucial.

Some common interdisciplinary approaches that are utilized to lessen deficits for

individuals with ASD are listed and explained below:

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Speech therapy:

Speech therapy is conducted by a professionally trained speech therapist. This

therapy involves a great deal more than just teaching a child how to speak. The

therapist may work with the ASD individual on a number of skills, including skills

such as:

o Nonverbal language skills: Nonverbal language involves communication

such as gestures, PECS (picture exchange communication system),

electronic talking devices, or utilizing other alternative devices such as

iPads or iPhones.

o Speech pragmatics: Speech pragmatics involves training regarding the

suitable speech context.

o Conversational skills: Speech therapists may instruct individuals with ASD

on how to have a back and forth conversation. This is called joint

attention.

o Concept skills: A speech therapist may help an individual with ASD

understand abstract ideas, as they relate to communication.

Occupational Therapy:

Occupational therapy helps those with ASD work on the basic personal and

social skills that are necessary to live independently, as many individuals who

suffer from ASD lack these skills. Some of the things that an occupational

therapist may work on are:

o Provide interventional therapy to assist a child in responding appropriately

to information and stimuli that enters through the senses. Interventions

may include brushing, playing in a ball pit, or other activities that are

aimed at assisting the child who suffers from ASD to better manage how

their body operates in space.

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o Facilitates play activities that offer instruction as well as assist in teaching

a child in interaction and communication with other people. For an

occupational therapist who specializes in treating those with ASD, this

may mean designing specific structured play therapies, for example,

Floortime, that are developed to building emotional, intellectual, and

physical skills.

o Comes up with strategies to assist the child with transitioning from one

type of setting to another and from one person to another, as well as from

one phase of life to another. For the child who has ASD, this may involve

self-soothing strategies to manage transitions from home to school; for

adults with the condition it could involve learning vocational skills.

o Develops adaptive strategies and techniques to maneuver around

disabilities. One example of this would be teaching the individual typing

should he or she find handwriting too difficult.

Behavioral Therapy:

Amongst those behavioral therapies that are most effective for working with

children who suffer from ASD are the kinds that engage a child’s intrinsic

motivation to learn. This type of motivation utilizes the child’s inner interest in a

topic to encourage the individual to seek more and more knowledge in that

particular area. Behavioral therapists who utilize intrinsic motivators may use a

child’s interest in dinosaurs, for example, to create a story that includes

dinosaurs as the main topic of the story, making learning a reward of the story.

Two of the most frequently used behavioral play therapy interventions utilized

with children who have ASD are Floortime and Relationship Development

Integration (RDI). These are therapies that assist the child in integrating

emotional, intellectual, and social capabilities, as opposed to simply focusing on

skills or isolated behaviors. Both of these types of therapies allow for the

individual’s particular interests in order to encourage learning and to engage the

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child in their own physical environment as well as at their current level of

cognitive and emotional development.

Another therapy that is frequently utilized, and is considered the gold standard of

behavioral therapy, is Applied Behavioral Analysis (ABA). This behavioral

therapy is a technique that is utilized to reduce inappropriate behavior while

increasing communication and increasing appropriate social behaviors. ABA

frequently utilizes confrontational techniques as well as punishment (i.e. time

outs from preferred objects or activities, or removal of a token) in attempts to

decrease behaviors that are unwanted. Many psychologists and therapists who

work with those who have ASD utilize ABA, making this the most likely therapy to

be utilized in most schools and clinical settings.

Social Skills Training:

Social skills therapists are psychologists, social workers, occupational therapists,

or speech and language therapists whose specialty is working with those who

have ASD. Drama therapists may also teach social skills by working with those

with ASD through scripted scenarios or through improving or critiquing practiced

interactions.

In school settings, social skills therapy can consist of group activities with those

with ASD and those who are not affected. These activities are generally games

and conversation. These activities are generally overseen by social workers or

school psychologists, and can be held in the classroom, playground, or

lunchroom. Social skills groups held at school generally focus on game playing,

conversation, or sharing.

Groups that are held outside of school may have a similar style, but are often

paid for privately. Children may be grouped by similar age and ability, and they

make use of a particular social skill curriculum that is developed by trained

practitioners in social skills therapy. Social skills therapy that is effective provides

those with ASD the opportunity to share, play, converse, and work with their non-

affected peers.

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Dietary Interventions:

ASD is sometimes caused by a genetic predisposition that is combined with an

environmental trigger. It is thought that this trigger may be a sensitivity to a

particular food that the individual with ASD consumes on a regular basis, such as

gluten, casein, corn, nightshade vegetables such as tomatoes or potatoes, soy,

or food dyes or preservatives.

The individual must be given an IgG food sensitivity test to determine food

sensitivities. This is a blood test that is given by a food allergist. The

recommended treatment for food sensitivities is to cease consumption of the food

that the individual is reacting to, commonly termed a food exclusion diet. Many

parents indicate that their child with ASD became less moody and better

behaved as well as less sensitive to light, sound and touch upon adoption of the

food exclusion diet.

Lessen family stress

For many families, the stress of ASD – whether the diagnosis comes earlier or later –

starts immediately. There is no aspect of family functioning that is not affected, from

having to cope with the affected child’s temper tantrums to dealing with the financial

burden ASD brings or the social isolation that frequently results. Research conducted by

the Interactive Autism Network (IAN) [207] examined the many aspects of stress that

families experience as well as the responses to stress and the feelings that result.

Families answered questionnaires that gauged stress on several measures. Fathers

reported slightly lower overall stress levels than did mothers. The first aspect assessed

was child behaviors. Parents were asked in the Parental Depression History

Questionnaire to determine to what extent their child’s challenging behaviors had a

detrimental impact on their lives. Seventy-two percent of participants indicated that

challenging behaviors had a moderate or great detrimental impact on their lives.

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Two of the most frequently mentioned contributors of stress that were associated with

challenging behaviors were meltdowns and aggression. Both of these behaviors

required the parent to be hyper-vigilant and made interaction with the world at large

difficult. One of the greatest consequences of challenging behaviors was social isolation

for the whole family. Additionally, parental self-esteem suffered as a result of the child’s

challenging behaviors.

Another aspect assessed was sleep disruption. Parents of children with ASD indicate

that they do not sleep as long and often have sleep that is poorer in quality when

compared to parents of other children, including those who are parents of children with

other types of disabilities [208, 209]. One study that was conducted in Philadelphia stated

that the accumulated poor sleep quality and shorter sleep duration contributes to the

stress of raising a child who suffers from ASD [210]. Children with ASD do themselves

have unusual sleep patterns, including a refusal to sleep, awakening in the middle of the

night, and prolonged rituals at bedtime. Forty-eight percent of parents indicated that

they experienced exhaustion as a result of these sorts of issues, and that these issues

had a moderate or great deal of impact on their stress level.

One other aspect that was assessed involved issues with treatment. A great number of

children with ASD need therapy for issues that are associated not only with ASD but

also with other co-occurring conditions, such as ADHD, depression, or anxiety. It may

cause extreme stress on the parent or caregiver to have to obtain and manage multiple

treatments, which may include physical, speech and language therapy, occupational

therapy, social skills therapy, medication, and ABA, just to name a few. Additionally, all

of these therapies can put a financial burden on the family in addition to placing a

logistical burden on the person coordinating the therapy [211]. Further, many parents and

caregivers feel that they are largely unsupported in seeking and obtaining adequate

treatment for their child, and that quality treatment options are not always readily

available. This adds to the stress of obtaining treatment.

In the aforementioned study, nearly 70% of participants indicated that managing

multiple therapies, including attempting to obtain treatment – either on their own or

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through insurance – created a moderate or great negative impact. Treatments may also

prove to be disappointing, and it can prove stressful when the family has invested their

time, energy, and money in a treatment option that has not been fruitful. Forty-six

percent of participants indicated that disappointments in treatment outcomes have had

a moderate to great negative impact on their lives. Another aspect that was assessed

was child setbacks. Parents and caregivers can find child setbacks very disheartening,

particularly because they help their children to work so hard to make progress.

The IAN research determined two categories into which setbacks fell: 1) classic

regression, in which the child acquired a skill and then lost that skill, and; 2) more

general setbacks wherein new negative behavior emerged. More than 70% of

respondents indicated that there was a moderate or great deal of negative impact when

the child experienced “a major problem or reversal in progress at school or in some

other area of life” [207]. In other words, setbacks were highly stressful. Some parents

even reported feeling “traumatized” by the setback experience.

One other aspect that was assessed was parental worry about the future. Parents worry

about a number of different factors pertaining to their ASD child’s future. For example,

when the child is young, the parent worries about whether or not the child will be bullied

in the future. As the child grows up, the parent starts to worry about such things as

independent living and employment prospects. Parents also worry about how other

family members will fare. Eighty-nine percent of study respondents indicate that stress

over worrying about the future has a moderate or great negative impact on their lives,

with some respondents indicating that this is an issue they think about every single day.

Despite this stress, many parents and caregivers indicate that they have feelings of

hope for their children.

Another aspect that was assessed was the impact on career and continuing education.

Participants were asked, “What impact, if any, has raising a child with an ASD had on

your own career or continuing education?” [212] Mothers and fathers answered this

question differently. Fathers felt more often than mothers did that there had been no

impact on their education or career, with 44% versus 28%. While many fathers reported

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that there was a negative impact (46%), more mothers reported that there was a

negative impact (59%). Researchers believe that the reason for this may be because

women are more likely to stay home with children than are men.

Studies show that gender roles are more likely to become more traditional after men

and women make the transition to parenthood [213, 214]. Mothers take on the bulk share of

the domestic duties, even if they work outside the home [215]. Additionally, there is still a

disparity in pay between what men earn and what women earn [216, 217]. Therefore,

women end up more often than men being titled the homemaker. Also, many women

plan on returning to work after having the child, but may not be able to because the

child has extensive needs. Those women who were planning to return to work may

have discovered that having a child with ASD meant missing work or performing below

the standards they had set for themselves, resulting in a negative impact on their

careers.

Many parents reported that challenging child behaviors were one of the major problems

standing in the way to fully achieving at work – these led to phone calls from schools or

care centers that interrupted the work day and contributed to stress at the job.

Additionally, childcare was often an issue. Many parents had issues finding or

maintaining consistent childcare options for their child. These issues often interfered

with work, leading to the parent having difficulty or inability in holding down a job. In one

study that compared families of children with ASD to families of children who were not

affected, parents of children with ASD were nearly 7 times more likely to leave a job as

a result of issues with child care than were parents of children who were not affected

[218].

In addition, in another study conducted by the University of Rochester, researchers

indicated that 39% of parents of those with ASD stated that they had quit a job, changed

a job, or not accepted a job as a result of childcare issues that were related to having a

child who suffered from ASD – this is more than 4 times the 9% that is reported by

families who are raising a child who is not affected [219]. However, not all parents

indicate that raising a child with ASD has had a negative impact. Nine percent of fathers

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and 13% of mothers indicate that raising a child with ASD has had a positive impact on

their education or career. This did vary somewhat dependent on the parent’s level of

education. A number of these individuals had simply found new careers, many of them

in areas such as autism advocacy, ABA, social work, special education, or a related

field.

One other question asked parents in the IAN research related to the impact, if any, that

raising a child with an ASD had

on their financial situation; nearly

80% of participants indicated that

the impact was a negative one.

One reason for the negative

impact was that many parents

were required to cut back on or

change employment. Additionally,

the cost of evaluation, treatment,

and therapies adds up quickly

and can create financial hardship.

Expenses can be of all kinds, and

can include various types of

therapies.

Many parents reported feeling desperate, with adequate treatment options always

feeling just out of reach. A negative impact was reported by parents of children with

every type of ASD, with 75% of those parents of children suffering from Asperger

syndrome, 78% of those parents of children suffering from PDD-NOS, and 80% of those

parents of children suffering from autistic disorder reporting negative impact. For many

parents, immediate needs are pressing, and adding to the stress and negative impact is

the constant worry of how to pay for future needs.

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[212]

Average per year expenditures for different ASD

diagnoses.

Another area assessed was how friendships and social networks are impacted, with

nearly 60% of participants indicating that having a child with ASD had a negative impact

on friendships and social networks [221]. Many parents mentioned that getting out into

the social world at large at all could be difficult, in particular if their child suffered from

temper tantrums or from meltdowns, as these tended to draw negative reactions from

other people, particularly strangers. This is particularly true because children with ASD

often appear to be physically fine, unlike many other children with mental or physical

disabilities, making it appear as though the child is simply acting out. This means that

others may be less understanding about what the parent must deal with when the child

acts out, and that the child’s challenges may be attributed to lax parenting as opposed

to an actual disability.

Further to the above, parents indicated that it is not only strangers that make socializing

difficult; parents conveyed that they have sometimes been asked to leave organizations

such as playgroups or churches as a result of their child’s challenges. Therefore, it is no

surprise that feelings such as loneliness or isolation are common amongst those

parents who have children who suffer from ASD. These parents tend to begin to avoid

social situations. In fact, a study indicated that families with children ages 3 – 5 who

have ASD were 70% less likely to attend church services as compared with children

who have ADHD or were not affected [222]. Another study that focused on quality of life

with families who have children with disabilities indicated that those parents who have

children with ASD had more difficulty with social relationships than did parents of

children who had cerebral palsy or mental retardation or parents of children who were

not affected [222]. Further, in a Canadian study where parents were interviewed

regarding their experience raising a child with ASD, many described that they were

made to “live in a world of their own”, or a world that was isolated [223].

Some of the parents interviewed for the IAN research indicated that they themselves

exhibited ASD-like traits, for example, social anxiety [224-226]. This made the social

situation even more difficult for these parents, as they started the situation feeling

socially awkward and then found the situation compounded by their child’s challenges.

Parents also found that friendships, which they had enjoyed previous to having a child

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with ASD, were strained upon having to care for their child’s challenges. Basically, the

majority of participants in the IAN study indicated that having a child with ASD is a

situation that reveals who one’s true friends are, and while they often found new

friendships, often with those experiencing the same hardships, they also lost friendships

they had previously valued.

Relationships with extended family also suffered. Forty three percent of fathers and

50% of mothers responding to the IAN research indicated that raising a child with ASD

had a negative impact on their relationships with their extended family. For many of the

families, the impact was mixed, with many relatives in denial or dismissive of the ASD

child’s diagnosis. Other relatives were helpful or supportive. Still, an ASD diagnosis may

bring barriers to the typical family interaction, as a child with ASD may have unusual

needs that a non-affected child may not have, such as a particular need for quiet or

routine. This can make events such as birthdays or weddings particularly trying or

isolating for family members who must care for the child who has ASD, not to mention

exhausting, as some participants indicated.

Some study participants indicated that they avoided family functions to avoid the

accompanying stress. Others indicated that they avoided events to avoid the

accompanying critical remarks made by other family members who did not believe the

child had ASD. However, stress with extended family was not without its positive

aspects. Participants indicated that stress helped them focus on who the real supporters

in their journey were and avoid those who would be critical and negative to progress.

The relationship between the parents/caregivers was also researched. Parents who are

raising a child with ASD face challenges that are in addition to balancing work and

family demands, paying bills, and doing chores. These families must also cope with

additional tasks to manage their child, for example, they must investigate treatments,

find providers, wrangle with insurance providers, shuttle their child to appointments, and

prepare for Individualized Education Plan (IEP) meetings. Additionally, there is also an

emotional toll that is exacted on the couple once they learn that their child has ASD.

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How the couple adapts and copes has implications for the ongoing health of their

relationship. Participants in the IAN research indicated that 60% of mothers and 54% of

fathers stated that raising a child with ASD had a somewhat or very negative impact on

their relationship with each other. However, despite this research finding, couples

raising a child who is suffering from ASD are not all that different from those couples

who are raising an unaffected child when it comes to respect for partner, commitment,

or support [227]. There also is no support for the previously reported 80% divorce rate of

80% for those families who have a child suffering from ASD [228, 229]. One study that

examined the divorce rates for families with children who suffered from a number of

disabilities indicated an average increased rate of 5.97% over the rate of couples for

non-affected children [230].

Researchers have reported a number of different areas of marriage difficulty for parents

with a child with ASD. One study of couples that were raising children with ASD

indicated that these couples experienced lower relationship satisfaction and less social

support than did parents of children who were not affected [231]. Another study that

examined families of children with developmental disabilities, mental health problems,

or no issues over a number of years to determine adaptation and coping mechanisms

found that parents with developmental challenges themselves had lower instances of

employment as well as social participation. However, these parents were the same as

the parents without developmental challenges when it came to such factors as physical

health, psychological health, and marital status. Those parents who had a child with a

mental health issue fared a bit worse. They were also the same as the normal parents

when it came to marital status; however, they experienced a greater instance of

depression and physical issues [232].

Such a research study is particularly important to pay note to, because many children

with ASD also have mental health issues [233-235]. One issue that couples frequently

mentioned was a lack of time together or being too exhausted to make time together.

Additionally, marital conflicts often arose from such issues as division of labor, or if one

of the two parents remained in denial of the child’s diagnosis of ASD. It should be noted

though, that a conflict over division of labor in the household might occur even amongst

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those couples that have a non-affected child [236]; the issue only becomes more difficult

to navigate when a child with a disability is involved. Gender differences may contribute

in how division of labor occurs, as many men see care of the child as the mother’s

purview. Some participants in the IAN research were deeply involved in meeting their

child’s needs; however, many others were not, and the most common strategy

employed by fathers in dealing with their child’s ASD needs – and a source of stress on

the couple – was avoidance [237].

Conflict and stress need not result in tragedy, however; families, as it turns out, can be

extremely resilient [238, 239]. Families may discover many positive aspects to having a

child with ASD, such as finding pleasure in caring for the child, finding a sense of

accomplishment in progress the child makes, coming to a sense that the marriage and

family has been strengthened by what the family unit has gone through as a whole as a

result of the diagnosis, and increased spirituality. Families may also gain a new

perspective on what is truly important about life.

One last important grouping of note is siblings of those with ASD. Raising a child who

suffers from ASD places a high demand on the time and resources of parents not only

as individuals but also on the family as a whole. Oftentimes, other members of the

family do not get their needs attended to in the same way that the ASD individual gets

his or her needs attended to. Many parents feel that even as they are giving their all in

caring for the child who suffers from ASD, they struggle in caring for the rest of their

family as well as caring for themselves – the feeling is compared to putting the rest of

life on hold while they care for the autistic individual. What results is a constant tension

between the needs of the child with ASD and the needs of the other family members.

While research indicates that the majority of siblings of those who have ASD cope well

with having an autistic brother or sister, these individuals still encounter specific

challenges as they learn how they must deal with having a sibling with ASD.

Some of the top sources of stress for siblings are covered below, and these include [240]:

Embarrassments around their peers as well as jealousy regarding the amount of

time parents spend with the child with ASD.

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Feelings of frustration over not being able to get a response or engage with the

child with ASD.

Being the target of aggression.

An attempt to make up for the deficits the child with ASD suffers.

Feelings of concern regarding parental stress or grief.

Feelings of concern regarding their own role for caregiving in the future.

There are things that parents – and practitioners as well – can do to help siblings

understand ASD, as well as to help improve sibling interaction and to ensure that all

children in the family feel loved and attended to. First, ASD must be explained to

children early and often, and the information should be given to them in ways that is

appropriate to their developmental age and level of understanding. For example,

preschool age children may need an explanation that will help them comprehend how

the behavior concerns them: saying that the child with ASD doesn’t talk is an

appropriate way to explain this.

An older child may want an explanation that is more interpersonal in nature, for

example, an explanation of how to explain autism to his or her friends. The role is to

listen carefully and pay attention to the unique needs and concerns of the child at every

age, adjusting explanations to fit those needs and concerns. Additionally, explanations

need to be offered again and again. Offering constant opportunities for education allow

the sibling repeated chances to have open conversations where questions and

concerns may be raised. A parent, caregiver, or practitioner may conduct these

conversations.

Secondly, parents and caregivers should work to help their children form a bond with

each other. This is difficult because of the nature of ASD. Many siblings become

discouraged at forming bonds with their ASD siblings; however, they can often be

taught simple skills that will help them engage with their sibling who is suffering from

ASD. Some of these skills include ensuring that the sibling has the ASD child’s

attention, offering simple instructions, and praising good play.

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Thirdly, to help alleviate sibling stress, it is important to teach parents that they must

make family time special for all family members. Parents frequently work very hard to

make certain that the individual with ASD is fully integrated into family life, but they work

less hard to make certain that this is the case for the other children. One way families

can make certain the non-affected children feel special is by setting aside time for non-

affected children that is separate from time spent together as a family unit.

Fourth, it is important for parents to recognize that being the sibling of a child with ASD

does not end when the sibling reaches adulthood. The sibling of a child with ASD is a

lifelong commitment, just as being the parent of a child with ASD is. Therefore,

practitioners should prepare parents for how to address sibling concerns as siblings

enter early adulthood. For example, young adults may be concerned about the genetics

of ASD and whether or not there is a chance that they themselves may have a child with

ASD. They may also be concerned about whether or not they will end up taking care of

their ASD sibling as he or she ages, particularly when questions of parental aging are

also involved.

All of these questions can create stress, but this stress can be adequately managed by

having open – and consistent – conversations, as siblings grow older. While it is true

that growing up the sibling of an individual with ASD can by challenging, most siblings

handle the challenge very well.

Applied Behavior AnalysisApplied Behavior Analysis (ABA) is the design, implementation, and evaluation of

modification of the individual’s environment in order to produce a socially significant

improvement in the individual’s behavior [241]. ABA includes the usage of direct

observation and measurements as well as the functional analysis of the relationship

between environment and behavior. ABA utilizes changes in environmental events to

produce both practical and significant changes in the individual’s behavior. These

environmental events are generally identified through a number of specialized

assessment methods.

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ABA is based on the idea that the individual’s behavior is determined by both the past

and current environmental events that are in play with certain organic variables, such as

genetics, as well as ongoing physiological changes. The focus of ABA is on treating

behavioral difficulties by changing the environment as opposed to focusing on variables

that are beyond the direct control of the practitioner. ABA is considered the standard of

care for treatment of ASD [241].

Contributions made by ABA to people who have ASD have been studied; ASD has

previously been considered to be a disorder that has been associated with a poor

prognosis, with only 50% of those individuals affected expected to develop spoken

language skills [242]. Behavioral intervention has been shown to be the most effective

method at addressing the needs of those who have ASD [243]. One early behavioral

intervention study that was conducted by Lovaas in 1987 discovered that 40 hours per

week of early intensive behavioral intervention (EIBI) that involved a curriculum that

emphasized language skills as well as intensively applied behavioral procedures,

resulted in nearly 50% of participants achieving IQs in excess of 100. Participants also

greatly improved their social development and were able to successfully mainstream.

This study is considered monumental in this area of research, as it was the first in

history to produce such incredibly encouraging outcomes for those with autism. The

gains produced in this study were replicated and maintained through several follow-up

studies.

To determine if the gains that were shown in the Lovaas study could be maintained over

an extended time period, McEachin, Smith, and Lovaas [244] conducted a longer-term

study of the same children by studying intelligence and adaptive function 4.5 years later.

Results indicated that the outcome of EIBI was better in relation to gains made by a

control group that received minimal treatment. Sallows and Graupner [245] provided

further validation of the results through a four-year long-term study that demonstrated a

replication of the EIBI success when parent directed and intensive treatment was

utilized. The Lovaas study [246] was met with methodological criticism, however, one

criticism of which was that it lacked randomization. Others have made efforts to

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replicate the findings of this study while addressing the problems of randomization.

Smith, Groen, and Wynn [247] published the first randomized study that evaluated less

intensive treatment at 20 hours per week; results indicated that even when it was

delivered with less intensity, EIBI showed improvement over parent training on its own.

Although a dose effect, indicated by Smith et al [248], had been raised there was a

question that remained about a need for adherence to the ABA principles, as to whether

intensity alone was a significant variable. Studies that followed worked to validate the

necessity to adhere to ABA versus more eclectic approaches that may be more

common in the early intervention programs. One study [249] validated Lovaas’ style of

EIBI in those children of autism who received Lovaas style of treatment for a period of

one year. The participants in the treatment possessed superior skills as compared with

a control group who had received more eclectic procedures that were considered

generally well regarded. The group that received the Lovaas treatment showed gains

that were evident in areas of language, intelligence, and adaptive behavior. These

findings were later supported in a study by Howard et al [250], which indicated that

classic eclectic approaches did not produce the same type of favorable results that the

Lovaas method resulted in.

Even though the Lovaas method proved to be remarkably successful, there has always

been a focus on improving the quality of treatment methods. Additionally, ABA

practitioners criticized the Lovaas method of EIBI because it did not utilize B.F.

Skinner’s (a psychologist that studied human behavior and language) analysis of verbal

behavior [251]. There are two examples of efforts that did utilize Skinner’s analysis, in

Bondy and Frost’s [252] and Partington and Sundberg’s [253] research. These efforts

resulted in the development of technology as well as teaching procedures that include

the Picture Exchange Communication System [254] and a treatment pack referred to as

the Applied Verbal Behavior pack [255]. It does still remain unclear whether or not

approaches that are based on Skinner’s analysis of verbal behavior are superior to the

Lovaas method. However, regardless of whether this is the case or not, ABA treatments

of all types assist individuals with ASD in living more fulfilling lives. ABA is a wonderful

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treatment for people with autism. It also is true that people with ASD have been good for

ABA, as elaborated on below.

How have individuals with ASD contributed to ABA and to Society? Those who have

received ABA as well as parents and caregivers who are advocates have made great

strides in efforts to provide those who need this valuable therapy with behavioral

intervention in both home and school environments. Efforts to bring ABA into these

environments have had many favorable impacts on education of those with ASD as well

as on the image of ABA.

Improving the image of behaviorism is important, as there have been common

misconceptions and contentions that misrepresent the significance and achievements of

behaviorism. B.F. Skinner himself identified 20 such contentions [251], which ranged from

the idea that behaviorism ignores the idea of conscious and feelings or states of mind,

the thought the behaviorism formulates behavior as a set of responses to stimuli that

are limited to the prediction and control of behavior that basically present the person as

a machine or robot, the idea that behaviorism works with animals but not people, the

notion that behaviorism is dehumanizing and confined to a laboratory setting instead of

being applicable to real life, and the thought that behaviorism is more concerned with

general principles instead of being focused on the uniqueness of each individual. All of

these ideas are damaging, but as more individuals have become consumers of ABA,

ABA’s image as a discipline has been improved, and its practitioners have come to be

seen as effective and humane teachers. This is one contribution that the ASD world has

made to ABA.

Another way in which those with ASD have helped the world of ABA is by permitting

practitioners to understand whether or not Skinner’s analysis of verbal behavior is valid

and practical. Dixon et al [256] indicate that Skinner’s analysis offered the first overall

accounting of language acquisition from “a naturalistic perspective” [242] and also made

a conceptual and empirical contribution to ABA that is enduring.

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Children with ASD have also shown the importance of early intervention methods such

as the Lovaas method. Methods such as EIBI may accelerate the learning process in all

children, including those without ASD. For example, if one considers the history of those

children who have been labeled as geniuses, such as Mozart, one may be struck by the

fact that these individuals are often the beneficiaries of large amounts of early training

[242]. Since methods such as EIBI benefit those with ASD so greatly, they may also

benefit those in other populations, such as those with Down syndrome, fetal alcohol

syndrome, and even those who are not disabled.

ABA has a history of focusing on addressing serious problems that affect those who

have severe disabilities [257] and have majorly benefited those who have ASD. While

ABA has not been integrated into mainstream science and remains in a niche in the

special education system, there is no denying the benefits it has produced for those

who suffer from ASD.

Structured TeachingThose who suffer from ASD thrive best in very well organized and highly structured

environments. Structured environments are considered those that promote a clear

understanding of schedules, activities, and expectations not just for the individual who

suffers from ASD but also for their caregivers and teachers. Specifically, the structured

environment allows the individual with ASD to [258]:

Understand and predict what is going on in the environment around them

Predict what is expected of them

Acquire new skills

Generalize the skills they acquire from one setting to another [259]

Structured teaching is generally a visually-based approach designed to create a

structured environment that will in turn support individuals with ASD in a number of

educational, community, and home or living environments [260]. The goal of structured

teaching is to create this environment that promotes independence – and ultimately a

decreased need for caregiver support – through incorporating an increased

understanding of the characteristics of ASD and the strengths and interests of the

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individual [260]. External organization and visual support serves as the basis for

intervention in the structured environment.

Structured teaching has certain specific components, and these are outlined below:

Physical organization and visual boundaries:

This is the usage of visual supports such as furniture, labels, icons, and so on to

make the learning environment more comprehensible and manageable to the

individual. An environment that is physically organized clearly indicates the types

of activities that occurs in each area; this helps promote increased understanding

and attention to each task. Visual boundaries help students understand the rules

of the space, the specific types of activities they should complete in each space,

as well as the behavioral expectations of each space.

Schedules:

Visual schedules offer a visual representation of planned activities in the order in

which they will occur utilizing symbols, pictures, words, photos, icons, or even

actual objects.

Routines:

Routines, when combined with visual schedules, help by assisting individuals

with understanding their environment and becoming more flexible. Predictable

routines serve as another form of structure, meaning that students with ASD

experience decreased anxiety in routine situations. When their anxiety is

lowered, students frequently demonstrate increased attention to tasks. In

addition, once an individual with ASD learns the routine, he or she will increase in

independence.

The primary goal of routines is to offer a framework for activities that will occur

within the individual’s schedule. Once the framework is established, the specific

context details may continually change [260]. For instance, once an individual

understands the basic routine of their language arts lessons, the teacher may

change the specific content. Since the individual with ASD may have difficulty

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paying attention, it is often helpful to provide each individual with his or her own

set of directions. An individual schedule placed into the individual’s agenda will

increase the individual’s chances of success in following a schedule or directions.

When routine is consistent and expectations are made clear, independence is

increased and level of learning is often higher.

Work systems:

Work systems are sequences that are visually structured and provide

opportunities to practice skills, activities, or concepts that have been previously

taught. The key here is that these are visually structured to increase

independence.

Task organization:

Visually structured tasks are highly incorporated and organized visual

instructions. These structured activities clearly indicate what activity the individual

should complete, the steps for completing the task, as well as the important and

essential features of the task. Tasks are selected based on assessment

information utilizing emerging skills. Tasks are developed so that the person

utilizing the system knows what to do simply by looking at the materials and the

design. There may be a picture or written instructions. Also, limiting the work

area by utilizing a box tray or folder assists the individual with ASD in knowing

what to focus on in a particular task. It is important to make certain that all

materials are secure; this lessens frustration. To know what is important, the task

may have highlighting in certain important parts, a limited number of items, be

color coded, or labeled.

There are several ways to create highly organized learning environments; these should

all be adapted to meet the needs of the individual suffering from ASD. These include:

Paying attention to individual consideration:

a. Consider the interests, strengths and needs of the individuals in

the particular setting at hand

b. Consider safety issues

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Designing the physical space and developing the visual boundaries:

a. Link the physical set up to the needs of the individuals in that

particular setting

Developing the schedules

Creating the work system

Organizing the tasks

a. Choose the tasks based on an assessment of the individual

b. Design the tasks to indicate direction

Implementing and monitoring progress

a. Make sure to teach the particular steps of the system. Utilize

strategies such as prompting, modeling, and reinforcement in

the teaching process.

b. Make sure to collect data on each individual’s ability to remain

actively engaged in the environment.

Structured teaching may be used in any setting or may be utilized to support any

individual with ASD. Further, any caregiver, educator, or practitioner, may use the

principles of structured teaching to support an individual suffering from ASD. These

strategies may be used at home, in educational environments, and in community living

settings, as well as to promote success at work.

Speech and Language TherapyMost ASD behavior intensive therapy programs include a speech-language component.

This is because many individuals with ASD experience language difficulties. With a

number of techniques, speech-language therapy addresses a number of challenges

faced by those individuals who suffer ASD. For example, some individuals who suffer

ASD do not speak, while others enjoy speaking but have problems utilizing

conversational speech or even understanding language or nonverbal cues when others

are speaking.

Speech-language therapy is made to coordinate with the mechanics of speech as well

as with the meaning and social usage of language. Speech-language therapy programs

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start with an individual evaluation by a speech-language therapist to assess the

individual’s verbal aptitude and to determine where the individual may be challenged.

From this evaluation, the therapist then sets goals based on the individual’s challenge

areas. In every case, the goal is to assist the person in communication in more effective

ways.

Even if a person is nonverbal, they can benefit from the skills of a speech-language

therapist. These individuals may benefit from augmentative and alternative

communicative (AAC) devices or methods. The Picture Exchange and Communication

System (PECS) is one of the most commonly utilized methods with children or adults

who have little or no verbal language skills. This method allows children or adults with

ASD to develop a vocabulary through which they may articulate desires, observations,

or feelings. This system may be taught and utilized at home, in classrooms, or in a

number of other settings.

Augmentative and Alternative Communication

At the beginning of the PECS program, the instructor teaches the individual to exchange

a photo for the object – for example,

the adult would exchange the picture

of the apple for the apple itself. With

further instruction, the individual then

learns to distinguish pictures as well

as symbols and utilizes them to form

sentences. Even though PECS is a

visually based system, the program

reinforces and emphasizes verbal

communications. Caregivers may purchase standard PECS systems as part of a

manual or put together their own by gathering photos from everyday sources, for

example, magazines, newspapers, and books.

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[261]

Other augmentative and alternative communicative devices include devices that may be

specially programmed, such as iPads and iPhones. A speech-language therapist may

provide therapy in a one on one setting, in small groups or in a classroom setting.

Social Skills TherapySocial skills are considered “socially acceptable learned behaviors that enable a person

to interact with others in ways that elicit positive responses that assist in avoiding

negative responses” [262]. One of the biggest areas that those who suffer from ASD

experience deficits is the area of social skills. There are five basic tenets of social skills

programming in individuals with ASD:

Individuals who suffer ASD have a desire to establish meaningful social

relationships.

If those with ASD are to be successful socially, then they must be given the skills

to be successful.

Successful social behaviors are not always “appropriate” social behaviors.

Social success is dependent upon the individual’s ability to adapt to his or her

environment.

Social interaction skills are not the equivalent of academic skills.

There are 3 integrated components that form up the essence of social interaction.

These are: thinking, feeling, and doing.

In order to approach social skills therapy in those with ASD, a five-stage approach must

be taken. This approach includes:

Identifying and assessing areas of need

Discerning between skill acquisition deficits and performance deficits

Selecting appropriate intervention strategies

Implementing intervention strategies

Evaluating the selected program and modifying the program as needed

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The social skills assessment is by far the most essential piece of this approach. The

purpose of the assessment is to discover: a child’s current level of performance; current

strengths as well as limitations; identify skills to teach, and; answer the important

question, “What is precluding the child from establishing and maintaining social

relationships?” [262].

The most common social skills difficulties that social skills therapy addresses are

difficulties in social initiation, difficulties with reciprocity and terminating interaction,

difficulties with non-verbal communication, difficulties with social cognition, difficulties

with perspective and self-awareness, and difficulties with social anxiety or social

withdrawal.

Occupational TherapyOccupational therapy addresses engagement in “activities…of everyday life, named,

organized, and given value and meaning by individuals and a culture” [263]. Occupational

therapy services focus primarily on enhancing participation in these activities, based on

an individual’s own goals and priorities for participation in these activities.

Occupational therapy focuses on a number of skills, including cognitive, physical, and

motor skills. The goal is to assist in helping the child or adult gain independence that is

age-appropriate and allow the individual to participate more fully in life. For an individual

with ASD, occupational therapy frequently focuses on skills for appropriate play or

leisure, learning, or caring for oneself.

Therapy starts with a therapist certified in the area of occupational therapy evaluating

the individual’s developmental level as well as their learning styles and social abilities.

The individual’s environmental needs are also assessed. Based on the evaluation, the

therapist selects strategies and goals designed to enhance certain skills. For example, a

goal may include dressing independently, feeding or grooming oneself, or using the

toilet on one’s own. Occupational therapy typically involves half-hour or one-hour

sessions, with the frequency of sessions determined by each individual’s needs.

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Additionally, the individual suffering ASD practices the skills with guidance at home or in

other settings, such as school.

PHARMCOLOGY

Current MedicationsEven though prescription medication is common for the treatment of ASD, there is not

much evidence that medications do much good. Surveys indicate that as many as 50%

of children with ASD take some psychiatric medications – most often these are

antidepressants, antipsychotics, or stimulants [264].

In one recent survey of 2853 children in the Autism Treatment Network, 27% of

respondents were using at least one psychotropic medication. Use of medication

ranged from 11% in children ages 3 – 5 years to 66% in those 12 – 17 years of age.

Most of the use was related to comorbid psychiatric diagnoses, which included

diagnoses such as ADHD or ADHD-like symptoms, bipolar disorder, obsessive-

compulsive disorder, anxiety, and depression. Despite the fact that there are a wide

number of medications utilized to treat patients with ASD, there is little evidence that

exists to show that medication is effective.

Educational interventions are still considered the cornerstones of treatment. These

typically involve behavioural or rehabilitative components to address the deficits that

exist with ASD. The components may involve occupational therapy, behaviour

modification, or speech and language therapy. However, medication may be considered

in the treatment of ASD if non-pharmacologic interventions have failed or if maladaptive

behaviours are severe. Medications are not intended to treat the core symptoms or

ASD; they also cannot cure ASD. Medications are considered adjuncts, and they may

be utilized to decrease the severity of symptoms as well as to help patients participate

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in more active ways in educational interventions or to assist patients in living outside of

institutional settings.

Patients with ASD are more sensitive to the side effects of medications, so practitioners

must take care to observe that the benefits of utilizing medications in ASD patients

outweigh the risks of the development of adverse reactions to such drugs. Medication

often utilized to treat symptoms related to ASD was frequently chosen based on their

ability to treat the same symptoms in other psychiatric disorders. For instance, Selective

Serotonin Reuptake Inhibitors (SSRIs) are utilized to treat stereotypical behaviour

based on the use of these medications in obsessive-compulsive disorder. Many

medications utilized in the treatment of ASD symptoms do not carry any sort of FDA

indication for the usage of treatment in ASD.

Studies of medication usage in ASD populations are sparse and often have small

sample sizes. Trials are often also complicated by the concomitant usage of other

medications utilized to treat symptoms related to ASD. Frequently, researchers have

difficulty recruiting enough study participants. The medications most commonly used to

treat ASD are listed below [264]:

Antipsychotics:

These are the most studied type of medication when it comes to the use of medication

in the treatment of ASD. The primary usage is for the aggression, irritability, and the

self-injurious behaviours that are associated with ASD. However, antipsychotics may

also be used to treat stereotypical behaviours and ADHD-like behaviours.

Haloperidol is one antipsychotic that has been utilized and studied for usage in treating

ASD. An average dosage of 1.12 mg/d has been shown in 2 clinical trials to decrease

maladaptive behaviours [265]. Doses exceeding this dosage show no additional

effectiveness. Usage of this antipsychotic was associated with a high incidence of side

effects. These side effects included sedation, increases in irritability, and dystonia. At

doses of 1.75 mg/d, 1/3 of patients developed dyskinesia that primarily affected the face

and mouth.

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Over 90% of the antipsychotics prescribed to children are second-generation atypicals

(SGAs). Risperidone is the most well studied SGA in ASD and is considered one of the

most commonly prescribed of the antipsychotics in children. Risperidone and

aripiprazole are the only two SGAs that carry an FDA indication for treating associated

irritability in children with ASD. Risperidone has been shown to reduce maladaptive

behaviour in ASD. The Research Units on Pediatric Psychopharmacology (RUPP)

Autism Network studies convey strong evidence for the efficacy of risperidone in

treatment of ASD [266]. In an 8-week double-blind, randomized, placebo-controlled study

of 101 children who ranged in age from 5 – 17 years, a mean dosage of 1.8 mg/d of

risperidone resulted in a 14.9 decrease in the ABC-irritability (ABC-I) subscale. This was

versus -3.6 points for the placebo group.

Risperidone does come with some side effects. These include fatigue, drowsiness, and

tremor. Aripiprazole was shown to reduce symptoms of irritability in those with ASD in

some small studies. The strongest evidence for the efficacy of this treatment comes

from two manufacturer-sponsored trials that led to the drug’s approval by the FDA for

treatment of symptoms associated with ASD. Both trials were 8-week trials on children

ages 6 – 17 years [267, 268]. Participants had to have both a diagnosis of ASD as well as

irritability-type behaviours such as aggression, tantrums, or self-injurious behaviours.

The first trial consisted of a flexible dosage schedule that started at 2 mg/d that

increased weekly to a maximum dosage of 15 mg/d by 6 weeks. In 98 participants with

a mean age of 9.3 years, there was a between group change in the ABC-I scale of -7.9

[267]. Side effects to the medication were seen in 91.5% of participants. The most

common side effects of this medication were fatigue, sedation, somnolence, drooling,

vomiting, diarrhea, and tremor. The second trial consisted of fixed-dosage aripiprazole,

with dosage being 5 mg, 10 mg, or 15 mg daily, given to 218 patients with a mean age

of 9.7 years [268]. Decreased in ABC-I were statistically significant across all doses as

compared to placebo. In the group receiving the 5 mg dosage, the total change was -

4.0; in the group receiving the 10 mg dosage, the total change was -4.8, and; in the

group receiving the 15 mg dosage, the total change was -6.0. Side effects were

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experienced by 85.2 – 89.8% of all of the participants on the medication and resulted in

17 withdrawals from the study.

Evidence for the usage of other SGAs is fairly sparse. Olanzapine and ziprasidone have

each had 1 clinical trial that demonstrate that they may reduce maladaptive behaviours

in those who suffer from ASD; however, the sample sizes in both trials were very small

(<20). In other small trials, quetiapine showed some mixed results. These medications

remain unproven [265, 269].

Selective Serotonin Reuptake Inhibitors (SSRIs):

Treatment with SSRIs is common. This is because the maladaptive and repetitive

behaviors frequently exhibited by those with ASD resemble those with obsessive-

compulsive disorder. Research evidence has shown mixed results. One trial of

citalopram in 149 children did not find any benefit [269].

In early trials, fluvoxamine was shown to improve repetitive behaviours and language

use in 8 out of 15 adults, but a trial that followed did not find similar responses in

children [265]. Another trial of paroxetine in 15 patients was initially shown to have

positive benefits on aggressive and self-injurious behaviours, but the effects waned

after 4 weeks of treatment [270]. One small trial of escitalopram in 28 participants

indicated improvement in the ABC-I scale [265].

There are two medications that have shown promise. These medications are sertraline

and fluoxetine. Setraline has been shown to improve aggression and self-injurious

behaviour. In one study, sertraline improved both of these behaviours in 8 out of 9

patients [265]. In another trial, 57% of ASD patients displayed significant decreases in

aggression and repetitive behaviours when given a mean dosage of 122 mg/d of

sertraline [270]. However, those with Asperger syndrome did not show any response to

the medication. In a study of fluoxetine in 34 children ranging in age from 5 – 17 years,

fluoxetine given at mean dosages of 0.38 mg/kg/d decreased the compulsion subscale

of the Yale-Brown Obsessive Compulsive Scale by 1.55 points. This was as compared

to 0.25 points for placebo [271]. In another study of 37 adult patients with ASD, a mean

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dosage of 64.75 mg/d of fluoxetine led to a decrease in the Yale-Brown Obsessive

Compulsive Scale of 3.7 points [272]. Side effects for fluoxetine were generally mild, and

included vivid dreams, insomnia, dry mouth, and headache.

Stimulants and Atomexetine:

Individuals who suffer from ASD often also have ADHD-like symptoms. These

symptoms may include symptoms such as hyperactivity, distractibility, excitability, and

difficulty concentrating. Psychostimulants and often considered the first line to treat

these types of symptoms. However, unlike children who have ADHD, children who have

ASD are not as responsive to stimulants and may have an increased sensitivity to side

effects such as emotionality or agitation.

Methylphenidate is the preferred medication, mostly because it has been used in most

of the clinical research. Short acting formulas should be used first so as to gauge

tolerance [273]. Although there are a number of trials that demonstrate the efficacy of

methylphenidate in treating the ADHD-like symptoms in children who have ASD, the

strongest evidence to this point comes from RUPP trials. In a 4-week trial of 72 children

ranging in age from 5 – 14 years who were treated with low dosages (0.125/mg/kg/d),

medium dosages (0.25/mg/kg/d) and high dosages (0.5/mg/kg/d) of methylphenidate in

3 divided dosages. During the first phase, forty-nine percent were found to respond to

the medication. However, 18% stopped the medication because they were unable to

tolerate it.

During the crossover phase, the ABC-I decreased from 30.9 – 33.2 to 17.2 – 20.1

(dependent upon the evaluator) [274]. In the second phase, which was conducted as an

open label, 8-week trial of 34 responders who were dosed on what was determined to

be their best response dosage, response was maintained. Side effects were most

commonly irritability, sadness, lethargy, dullness, and social withdrawal. In a follow-up

analysis of 33 participants from this study, it was indicated that there was substantial

improvement in self-regulation, joint attention, and the ability to regulate one’s emotions

[275].

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Two small studies indicate that there are potentially minor benefits of atomoxetine in

those children with ASD and ADHD-like symptoms. The first study was a crossover

study that consisted of 16 participants ranging in age from 5 – 15 years. Over 6 weeks

the patients were given a mean atomoxetine dosage of 44.2 + 21.9 mg/d; patients

experienced a mean decrease of 5 points on the ABC-I hyperactivity scale as compared

to 0.1 point for placebo [276]. In the second study, 97 participants ranging in age from 6 –

17 years were assigned randomly to either a fixed dose atomoxetine regimen (1.2

mg/kg/d) or a placebo regimen. After 8 weeks, participants on the atomoxetine

experienced an 8.2-point decrease in the 5-point ADHD Rating Scale (ADHD-RS) score

as compared with 1.2 for placebo [277].

In both trials, atomoxetine was well tolerated. The most common side effects were

decreased appetite, nausea, fatigue, and early morning awakening. The drug’s

manufacturer sponsored both of these trials. Although they do suggest that there is a

possible benefit in this drug in the treatment of ADHD-like symptoms in those individuals

who suffer from ASD, further research is needed before this medication may be

considered a first line therapy.

Even though clonidine and guanfacine have been utilized to treat ADHD, there is sparse

data on their usage in ASD. Both risperidone and aripiprazole have been shown to

decrease ADHD-like symptoms in those children who also have ASD. However, there is

a risk of weight gain and movement disorders with these medications. Therefore, these

medications are not recommended unless there is a high degree of impulsivity that

threatens the child’s life, for example, the child displays dangerous or impulsive running

or jumping. Another example would be a child who displays excessive irritability or

aggression [273].

Cholinesterase Inhibitors and Glutamatergic Antagonist (Memantine):

Medication typically utilized to treat Alzheimer’s Disease that may be added to their

treatment plan. There has been increased interest in utilizing both cholinesterase

inhibitors and the glutamatergic antagonist memantine to improve executive level

functional deficits such as decision making, problem solving, and social deficits in those

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patients with ASD. The interest in this avenue of treatment stems from findings in

autopsies that indicate a deficit of cholinergic receptors as well as abnormal functioning

of those receptors in the prefrontal regions and cerebral cortex. There have only been

small trials of these types of agents and these agents are not yet proven [278].

One 10-week trial conducted with 34 participants with donepezil at 10 mg/d indicated

that participants did not show any difference on tests that were made to measure

cognitive functions such as verbal ability or problem solving [279]. In another open label,

12 week study conducted with 32 participants ranging in age from 2 – 12 years,

rivastigmine dosed at 0.8 mg twice a day was shown to improve expressive speech and

autistic behaviour, as indicated by a 3 point drop in the Childhood Autism Rating Scale

Score [278]. Galantamine has been shown to bring about mild improvement in such

behaviour as hyperactivity, eye contact, and inappropriate speech, but these results are

limited [280, 281].

Additional autopsy findings have shown a decreased neuronal size in the greatly

interconnected structures in the limbic system. This indicates neuronal immaturity,

which impacts the ability to form memories. An “excitotoxicity” state may occur which

might then lead to high levels of the neurotransmitter glutamate, which in turn may lead

to neuronal death. Small studies of both amantadine, which is related structurally to

memantine, and D-cycloserine, which behaves as a partial agonist at the NMDA

receptor, indicated positive effects on those with ASD. These indications have in turn

led to an interest in memantine as a treatment for ASD [282].

In one 8-week open label study of 14 participants ranging in age from 3 – 12 years,

memantine dosed at 0.4 mg/kg (up to 20 mg/d) culminated in a small improvement on

simple memory tests. Improvements were not seen on other cognitive measurements.

However, participants did show improvements on all ABC subscales [282]. In a second

trial of 18 participants ranging in age from 6 – 19 years, with a mean dosage of

memantine of 10.1 mg/d and over a treatment period that averaged 19.3 weeks,

participants were “much improved” or “very much improved” as indicated on the Clinical

Global Impression [283].

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The results of studies that use galantamine, rivastigmine, and memantine do show

promise, but they must be confirmed before these medications may be utilized in routine

treatment.

Behavioural Interventions:

Behavioural interventions are still considered the best option. Many early intervention

therapies utilized in treating those with ASD are based on the principles of ABA, which

utilized positive reinforcement as well as other techniques to encourage a behavioural

change. Research suggests that high intensity intervention – considered to be at least

30 hours per week for one to three years – may help improve behaviour and thinking

ability as well as broaden the individual’s language skills, as compared to other, more

broad treatment options.

Future TherapiesFuture therapies for treating ASD may take many paths. Researcher Jeffrey Bradstreet

is examining how neuronal stem cells may help treat ASD [284]. His research is currently

being tested on mice models of autism.

Additional therapies are also being explored. For example, trials on mice utilizing

metabotropic glutamate receptor 5 (mGluR5) blockers have shown promise [285]. It has

been commonly thought that a glutamate imbalance could lead to many of the core

symptoms of ASD; therefore, balancing glutamate may lead to alleviating these

symptoms.

Other therapies involve more individualized behavioral therapies and a more away from

a one size fits all approach to therapy. Since ASDs sit on a wide spectrum, allowing for

a wide spectrum of treatment options that may be tailored to each individual also allows

for optimum treatment, ensuring that each individual may get his or her needs met fully.

VACCINE CONTROVERSY

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Vaccines are considered one of the great advances in health care. However, many

parents have questions about the possible link between vaccinations and ASD. These

questions persist even after science has debunked connections between vaccinations

and autistic disorder [287].

The concern over autism and vaccines first arose after Wakefield and colleagues

published a small and controversial study in The Lancet in 1998 that suggested that

autism is related to the MMR (measles, mumps and rubella) vaccine. This led to a

media frenzy that in turn led to widespread public concern and a decrease in MMR

vaccination rates as well as several measles outbreaks. The link between the MMR

vaccine and ASD was never substantiated, and The Lancet has since issued a

retraction [288]. Additionally, Wakefield was found guilty of professional misconduct and

lost his license to practice medicine in the U.K. [289]. Nevertheless, the idea that

vaccines and ASD are linked continues to receive a fair amount of public and media

attention. In addition, there has more recently been speculation that thimerosal and

other preservatives are responsible for the rise in autism in spite of the removal of

thimerosal from vaccinations.

Scientifically speaking, vaccinations are safe. The benefits of vaccines far outweigh the

risks they bring. There is not evidence of a relationship between ASD and vaccinations.

Vaccinations in fact save millions of lives as well as prevent long-term complications

from life threatening diseases. Legally speaking, vaccinations have also been found

safe [290]. However, the decision to vaccinate continues to be a hotly debated and highly

emotional issue.

The rise in the incidence of ASD is a public health concern; therefore, it is prudent to

ask if there is any remaining scientific evidence for the concern associating vaccinations

and ASD. Some parents believe that the rise in ASD is due to vaccinations; however,

some researchers believe that the rise in ASD diagnoses is because diagnostic tools

have become more finely honed and specified, allowing for more precise diagnosis than

in previous years, where individuals may have been diagnosed incorrectly. Additionally,

practitioners are receiving a greater level of education on ASD in recent years than they

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received previously, increasing awareness as well as allowing for more accurate

diagnosis.

In 2009, Fombonne reviewed 43 studies on the epidemiology of ASD, and concluded

that “there is evidence that the broadening of the concept [of autism], the expansion of

the diagnostic criteria, the development of services, and the improved awareness of the

condition have played a major role in explaining this increase, although it cannot be

ruled out that other factors might have also contributed to that trend” [291].

There have been a number of studies that have examined beliefs about immunizations

in families who have individuals who suffer from ASD, and these studies reflect that

beliefs that vaccinations are related to ASD persist. For example, one study that

examined 486 families registered on the Interactive Autism Network [292] found that

26.4% of the families who had at least one child with ASD delayed vaccinations for

other children; 18.9% declined vaccinating their other children. When asked for their

reasons for delaying or declining vaccinations, the degree of belief in the link between

the vaccine and autism was the largest associated factor. In another study of 197

children with ASD in western Los Angeles County, researchers discovered half of

caregivers stopped or altered vaccinations based on the belief that the vaccinations

contributed to ASD [293]. This indicated to researchers that there is still a large gap

between parental belief and practices as well as medical practice and recommendations

for childhood immunizations.

It is important to note that parental beliefs have the power to adversely affect

vaccination practices and rates. In particular, those who are parents of children with

ASD may be more likely than others to change their vaccination practices. These

parents may also serve as sources of trusted information for other families in their

communities who fear ASD. Since there is a high prevalence of ASD, it is important to

understand the concerns and vaccination practices of parents of children with ASD so

that these concerns and practices may be adequately addressed. Researchers in the

Los Angeles County study believe that the large proportion of parents who think that

vaccines cause their child’s ASD is indicative of a communication barrier between

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practitioners and parents, in addition to the powerful effect the media has on vaccine

practices. This communication barrier may exist for a couple reasons. For example,

physicians may believe that parents of children with ASD might not be open to

discussion about vaccination or that education will not cause a change in beliefs, and

parents may be fearful to ask questions or think that practitioners do not value what they

believe. One study [294] found that those parents who chose not to vaccinate felt

estranged from and untrusting of their doctors, and another study [295] indicated that

those caregivers who had refused the MMR vaccine felt that their good intentions were

not recognized.

Those parents of children with ASD often feel very guilty over the idea that in

vaccinating their child that they may have caused their child’s disorder. They then may

be more likely to decline vaccines because they may be concerned that they could

make their child’s ASD worse or cause ASD in their other children. Parents frequently

perceive that practitioners underestimate safety concerns as well as the impact of ASD

on their family. However, although parents frequently turn to outer sources such as

media for information, it is likely that they will continue to ask their practitioners for

information. Therefore, it is essential for practitioners to advance open discussion as

well as make it clear that both parent and practitioner share the concern for the child’s

welfare.

SUMMARY

Autism Spectrum Disorders (ASD) includes a group of developmental disorders whose

symptoms range on a continuum that runs from mild to severe in expression. ASD is

typically present early in life, anytime from infancy or early childhood. More than

500,000 people in the United States have some form of diagnosed autism. Autism may

keep a child from forming effective relationships with other people, due in part to an

inability to properly interpret facial expressions or emotions. Children with autism

spectrum disorders may be resistant to cuddling or change, and they may play alone or

have delays in speech development. People with ASD also frequently repeat body

movements or have extreme attachments to certain objects.

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It is not known what causes ASD. However, it is known that there are strong genetic

factors that play a role in causing ASDs to develop. Additionally, non-genetic,

environmental factors play a role in the development of ASD. Most researchers agree

that ASD is a combination of genetic and non-genetic factors, with the individual who is

genetically predisposed having been exposed to factors that then make him or her more

vulnerable to developing an ASD. ASD may develop gradually, or there may be a

regression course, where the individual starts out developing normally and then loses

the skills he or she acquires. There are a number of risk factors for the development of

ASD, including gender, prenatal and perinatal factors, and neuroanatomical anomalies.

The diagnosis of ASD is of utmost important, and it is important that ASD be diagnosed

early. There are many testing tools available for the diagnosis of ASD, and these tools

allow parents and practitioners to assess children to allow for early intervention. While

there is no cure for ASD, early intervention research indicates that early intervention

allows for better outcomes than does standard treatment protocols. The main goals of

treatment in ASD are to lessen individual deficits and to lessen stress on the family.

There are several ways to do this, including structured teaching, behavioral therapy,

speech and language therapy, occupational therapy, social skills therapy, and the use

of medication. In addition, educating family members offers valuable ways to cope.

However, it is important to remember that there are positive aspects to autism, such as

the fact that many people with ASD excel on certain mental levels, such as counting

and measuring, or at art, music, or memory. Many family members also report feeling

accomplished in caring for the individual in their family who has autism, and feeling a

deep sense of fulfillment in being around their ASD sibling or child. Although there is no

cure for ASD, ASD is not a hopeless diagnosis. There is hope for progress both in

research and for those who have an ASD. ASD affects the entire family unit, but with

the proper education and coping tools, the entire family unit can be well equipped to

handle the ASD diagnosis.

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Please take time to help the NURSECE4LESS.COM course planners evaluate nursing knowledge needs met following completion of this course by completing the self-assessment knowledge

questions after reading the article. Correct answers on page 114.

1. The primary goals of ASD treatments are to:a. lessen deficits and family stresses

b. treatment through use of medication

c. educating family and other caregivers about unique challenges of an

individual with ASD

d. all of the above

2. True of False. ASD is understood to be the result of a combination of genetic and non-genetic factors.

a. Trueb. False

3. Secondary ASD can be caused by:

a. Fragile X syndrome

b. Tuberculosis

c. Rett Syndrome

d. Answers a and c above

4. Rett syndrome predominantly affects:a. males

b. females

c. individuals during adolescence

d. those of African descent

5. Repetitive behaviors in individuals with ASD can include:a. arm and hand flapping

b. rocking or other unusual body movements

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c. head banging

d. all of the above

6. True or False. Pregnancy and increased risk of ASD with a combined diagnosis of ADHD or ADHD symptoms includes use of valproic acid.a. True

b. False

7. Individuals with ASD often have ADHD-like symptoms, which include:a. hyperactivity, distractibility, excitability, difficulty concentrating

b. impulsivity, short term memory loss, aggression, tension

c. distractibility, fatigue, poor concentration and insomnia

d. poor performance in school, conflict with peers, hyperactivity

8. True or False. Treatment for children with both ASD and anxiety is evolving and more research is needed on how to adapt traditional approaches with cognitive behavioral therapy.a. True

b. False

9. Individuals with ASD thrive best in very well organized and highly structured environments, which include those that:a. promote a clear understanding of schedules

b. provide activities

c. establish expectations

d. all of the above

10.True or False. Treatment with SSRIs is uncommon for children with ASD.a. True

b. False

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Correct Answers:

1. d

2. a

3. d

4. b

5. d

6. a

7. a

8. a

9. d

10. b

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