Post on 10-Dec-2015
Autism Spectrum Disorders
Judith A. Axelrod, M.D.
Developmental-Behavioral Pediatrician
Square One Specialists in Child and Adolescent Development
Professor of Pediatrics
University of Louisville School of Medicine
Disclosures A. “I have no relevant financial relationships with
the manufacturers of any commercial products and/or provider of commercial services discussed in this CME activity.”
B. “I do not intend to discuss an unapproved/investigative use of a commercial product/device in my presentation.”
Autism Spectrum Disorder Described in 1943 by Dr. Leo Kanner
Study of 11 children Early infantile autism
Characterized by social differences
Dr. Hans Asperger Described milder form of disorder Asperger syndrome
Autism Spectrum Disorder/Pervasive Developmental Disorders
DSM-IV-TR (APA, 2000) 5 disorders under the PDD umbrella
Qualitative impairments of communication Qualitative impairments of social skills Restricted, repetitive, and stereotyped
patterns of behavior, interests, and activities
Autism
N.O.S.
Asperger’s
Rett’sChildhoodDisintegrative
PDD Umbrella
Autism Spectrum Disorders Autism (50-60%)
Social communication skills<cognitive skills PDD-NOS
Sub-threshold Autism
Asperger Syndrome Social interaction deficits and restricted interests
Child Disintegrative Disorder Normal development for first 2 years of life
Rett Syndrome
Social Communication Disorders
Autism Asperger’s Disorder Pervasive Developmental Disorder, NOS
Development of social communication Within the first and second year of life
children develop: Sense of self Capacity to judge form evidence Ability to integrate ideas from past
experience Ability to appreciate psychological state of
another person
Social communication Teasing Helping Comforting
Development of social communication
During the first and second year of life children Show interest in other people Show curiosity about feelings and thoughts
Pretend
Make believe play
Social Communication requires:
Joint attention Effective reciprocity or emotional sharing The ability to realize that another person
has thoughts and ideas similar to you
Theory of Mind Understanding the desires of another Understanding the emotional state of
another person Having the ability to figure out what a
person’s intentions are Knowledge that what you are thinking can
be conveyed to others through nonverbal means
Case studyJoseph is a 2 ½ year old male who lives “in his own world”. During his first year of life he was playful and interactive. He spoke single words at 8 months. At 15 months he had a 9-15 word vocabulary. At 18 months an insidious regression of his language and communication skills began. By 2 years, Joseph spoke 4 words; he did not give eye contact. He did not share his joys.
Autism Spectrum Disorder
Neurobiological disorder Inconsistency of development Expression of symptoms varies with age
and developmental level of person
Autism Universally considered a neurobiological
disorder No specific etiology Likely complex etiology
Genetics Environmental factors Associated conditions
Genetic Aspects 5% recurrence risk Concordance in 90% monozygotic twins Concordance in <10% dizygotic twins Mild associations with genetic syndromes
Fragile X syndrome (3%) Tuberous Sclerosis (2-5%)
Associated with Autism perhaps by chance Neurofibromatosis Cornelia de Lange Syndrome Angelman Syndrome Down Syndrome Intrauterine exposure to:
Rubella CMV Varicella
Autism Facts Common (1:160) More common in
boys Occurs across all
populations
Cause is not known Considered a
spectrum disorder
Associated medical conditions Mental retardation Seizures
Two phases of presentation Early childhood Late adolescence
Linked to evidence of brain dysfunction/damage
Autism through the lifespan
Infants and toddlers Easy going “too good” baby Baby with sensory processing abnormalities
Difficulty regulating behavior Overexcited, fussy, crying inconsolably
Infants and Toddlers Poor imitation Abnormality in eye contact Under responsive to people Bland facial expressions with less smiling High tolerance to pain, cold, or heat Hypersensitive to taste, touch
Early Indicators Lack of pretend play No point to express interest Poor joint attention Inefficient use of eye gaze Communication deficits Poor response to name
Other Indicators Speech delay Acts as if cannot hear well/ignores In own world Abrupt decline in use of words 18-24 mos. Repetitive play Unusual play/TV preferences
Early Childhood Typically most obvious signs and
symptoms of Autism Ages 4-5 years standard age in determining
severity of Autism Repetitive and stereotypic behaviors
emerge and peek at 5-7 years Special interests and sameness emerge
Obsessions and compulsions
Common Features Repeated body movements/stereotypies
Hand flapping, pacing, unusual inspection, opening and shutting doors, staring at lights
Attachments to objects Resistance to change Difficulties with transitions Aggression Self injurious behaviors (rare)
Common Features, continued Sensory issues Difficulty with generalization Overselectivity Splinter skills
Middle Childhood Subtypes emerge
Aloof Passive Active but odd
Stereotypies diminish Divergence of population with language
acquisition and developing cognitive skills
Associated findings
ClumsinessDyspraxiaSensory processing difficultiesHypotoniaJoint laxityToe walking
Adolescents Continued difficulty with social and
pragmatic language Some seek to develop social skills Refinement of special interests Increased anxiety, some have deterioration
but regain later
Adults Vastly differing outcomes 1/3 able to care for self, achieve some
independence, have some friends, live independently or with support, work
Nearly 70% have fair to good language Marriage is rare
Adults continued About 45% have poor outcome Dependent on family or living in
residential setting Major seizures, behavioral problems,
continued dependency Increased rates of depression and anxiety
Autism
N.O.S.
Asperger’s
Rett’sChildhoodDisintegrative
PDD Umbrella
Asperger syndrome continued
No apparent cognitive impairment No apparent receptive or expressive
language impairment
Asperger Syndrome Impairment in social interaction Restricted, repetitive, and stereotyped
patterns of behavior
Ian is a 12 yr old who is described as a bright,
witty, intelligent youngster who talks constantly. He is curious and persistent. He is anxious, argumentative and has trouble with transitions. Ian has a history of repetitive behaviors described as facial grimacing, finger rituals. He has unusual speech patterns. Adults are more tolerant of him than same aged peers. He has few friends. Parents report
that Ian is an only child because life is very difficult with him and he requires much time and effort. Ian has Asperger Disorder.
Asperger Syndrome Normal language development
No delay in receptive and expressive language milestones
Language skills are defined as normal especially in early life
No delay in cognition or adaptive behaviors in early life
Asperger Syndrome Qualitative impairments in social
interaction1. Impaired nonverbal behavior
Poor eye gazePoor use of facial expressionPoor use of gestures to regulate interaction
Asperger Syndrome Qualitative impairments in social
interaction2. Impaired social communication
Rigid Excessive or tedious Pedantic Narrow range of interests
Nonverbal Learning Disorders Some experts believe that NLD and
Asperger Syndrome are one and the same
Clinical presentation is similar with Asperger Syndrome
NLD Characteristics Composed of a constellation of skill
deficits that impact all aspects of living. Poor nonverbal problem solving Significant discrepancy between verbal and
nonverbal cognitive abilities Much lower nonverbal than verbal
NLD continued Difficulty correctly processing and
attending to tactile and visual modalities. Psychomotor coordination difficulties or
physical awkwardness. Specific weaknesses in social perception
and social judgment. Significant problems in adapting to new or
complex situations.
NLD Risks Social withdrawal and social isolation which may
worsen as they get older. Predisposed to have internalizing psychological
disorders such as depression and anxiety. Often diagnosed (misdiagnosed?) with ADHD
due to poor organizational skills, poor planning and impulse control difficulties.
Perceptual difficulties of NLD can interfere with reading, math, spelling.
Autism
N.O.S.
Asperger’s
Rett’sChildhoodDisintegrative
PDD Umbrella
PDD:NOS/Atypical Autism
Criteria not met for another ASD/PDD Impairments in social interaction WITH Impairments in verbal and nonverbal
interactions OR stereotyped behaviors, interests or
activities
Autism Spectrum Disorders: Associated problems Attention problems Impulse control difficulties Sleep problems Obsessive compulsive behaviors Self-injurious behaviors Tics Depression Anxiety
Autism
N.O.S.
Asperger’s
Rett’sChildhoodDisintegrative
PDD Umbrella
Childhood Disintegrative Disorder Normal development 1st 2 years Significant loss of skills (before 10 years)
in at least 2 areas: Expressive or receptive language Social skills or adaptive behavior Bowel or bladder control Play Motor skills
Childhood Disintegrative con’t Abnormalities of functioning in at least 2
of the following areas: Qualitative impairment in social interaction Qualitative impairments in communication Restricted, repetitive, and stereotyped
patterns of behavior, interests, and activities
Level One Assessment A screening Developmental surveillance by providers
performed at every well child visit A starting level evaluation for children
referred for developmenal difficulties
Level One, continued Use broad-band screening questionnaires Listen to parental concerns about child’s
development Ask specific developmental probes
regarding speech-language, social, and behavioral development
Examples of Parent Concerns Acts as if cannot hear well Not talking like should Acts as if in his own world A loner Does same play over and over Odd interests
Absolute Indicatorsfor Level Two Evaluation No babbling by 12 months No gesturing by 12 months No single words by 16 months No 2-word spontaneous phrases by 24
months Any loss of any language or social skills at
any age
Level Two Evaluation
Diagnosis and Assessment of Autism
Diagnostic Toolbox Input from team Input from parents Input from school Direct observation
Cognitive measures Adaptive measures Diagnostic measures Clinical judgment
Cognitive Measures
No cognitive pattern confirms or excludes a diagnosis of Autism (but may help in differentiation of Asperger Syndrome or Nonverbal Learning Disorder).
Essential for educational planning Provides a full range of standard scores
(floor)
Adaptive Measures Essential in the diagnosis of mental
retardation Provides information regarding social and
communication functioning Example:
Vineland Adaptive Behavior Scales
Input from Speech-Language Pathologist Measures of receptive language Measures of expressive language,
including both communicative means (how) and communicative functions (why)
Measures/observations of play and social skills
Pragmatics
Medical Diagnostic Measures Comprehensive Physical and Neurological
examination Laboratory evaluation
High resolution chromosome analysis DNA for Fragile X Syndrome Thyroid function testing Plasma amino acid screen Urine Organic acids Comparative Genomic Hybridization Study
Medical Diagnostic Measures
MRI of brain Sleep deprived EEG
Screening and Diagnostic Measures
Various standardized questionnaires and structured interviews are part of a thorough assessment for ASD.
Standardized measures can help by providing information regarding: Symptoms Primary domains of deficits Severity of symptoms / deficits
Screening and Diagnostic Measures Autism Diagnostic Interview – Revised Autism Diagnostic Observation Schedule Childhood Asperger Syndrome Test Checklist for Autism in Toddlers Social Communication Questionnaire Gilliam Autism Rating Scale Childhood Autism Rating Scale
Intervention Early identification Speech-Language Therapy Occupational Therapy Physical Therapy Interaction with same aged normal peers
Intervention Development of a communication system
Picture Exchange Communication System (PECS) Visual schedules Visual cues
Social skills training Social stories Play groups
Intervention Analysis of behavior for appropriate behavioral
intervention (e.g., ABA) Intensive behavioral approach Goal is to teach children how to learn by focusing on
building blocks of development
Developmental, individual-difference, relationship-based (DIR) / Floortime Use of play to build relatedness (e.g., warmth,
pleasure, meaningful communication, creativity)
Educational Intervention Teachers need specific training in the education
of children with Autism Intensive Speech-Language therapy
Collaboration between therapist, parents, and teacher is critical
Promote behaviors with positive behavioral strategies
Use of visual and manipulative educational materials
Educational Intervention Visual communication aids
Visual schedule, chart of daily activities Social skills training
Buddy system Social stories Positive reinforcement for positive behaviors
Key Issues for Intervention Early intervention is critical Communication Social Skills Development Gradual increase in prosocial behaviors Development of self & awareness of others
Medication
There are no medications that “cure”
Autism. Medication should be used for
specific symptoms.
Specific symptoms for medication Anxiety Obsessive-Compulsive behaviors Depression Self abusive behaviors Aggression Sleep deprivation
Medications Used Selective Sertonin Reuptake Inhibitors (SSRI)
Prozac (Fluoxetine) Zoloft (Sertraline) Celexa (Citalopram)
Neuroleptics Risperdal(Risperidone) Zyprexa (Olanzapine) Geodon (Ziprasidone) Abilify (Aripiprazole)
Medications Used Continued Alpha adrenergic agonists
Clonidine Guanfacine
Mood stabilizers Depakote (Valproic acid) Tegretol (Carbamazepine)
Antiopiod Naltrexone
Alternative Therapies unproved Gluten-Casein Free Diet
Based on toxicologic opioid hypothesis
Nutritional Supplements Based on hypothesis that minerals and/or vitamins improve
“autistic behaviors”
Immune globulin therapy Based on assumption Autism is an autoimmune abnormality
Secretin Intravenous hormone that stimulates pancreas and liver to manage
“autistic behaviors”
Chelation Based on hypothesis that mercury exposure is cause of Autism
Autism and learningThe child with autism can learn skills for
communication, can develop the skills for
emotional and social relationships, and
can learn to diminish stereotypical
behavior. No one particular program works for all children.
Autism
Autism is a lifelong developmental disorder.
Autism
There is no “cure” for Autism. Prognosis is dependent on cognition and
the ability to develop social skills. Early intervention is critical and optimizes
treatment.
The following organizations can offer information and support: Autism Society of America (ASA) www.autism-society
.org/ 7910 Woodmont Avenue, Suite 300, Bethesda, Maryland 20814-3067, 1-800-3-AUTISM,
National Autism Hotline, P.O. Box 507, Huntington, West Virginia 25710-0570, (304) 525-8014, fax (304) 525-8026.
Autism Research Institute, http://autism.com/ 4182 Adams Avenue, San Diego, California 92116, (619) 281-7165, fax 619-563-6840.
MAAP, More Advanced individuals with Autism, Asperger’s syndrome and Pervasive Developmental Disorder,
Information and Support
Autism Society of Kentuckiana www.ask-lou.org/ P.O. Box 90, Pewee Valley, KY 40056,
Autism Society of the Bluegrass http://asbg.org/ 243 Shady Lane, Lexington, KY 40503-2034, (859) 278 4991
Indiana Resource Center for Autism http://www.autismindiana.org/ Susan Pieples, President P.O. Box 1064, Carmel, Indiana 46082 (317) 695-0252, susan@broadhorizons.us.
Information and Support
University of Louisville Autism Center at Kosair Charities, 1405 E. Burnett Avenue, Louisville KY 40217, (502) 852-1300 http://louisville.edu/autism/
FEAT of Louisville 1100 East Market Street Louisville KY 40206 (502) 596-1258 http://www.featoflouisville.org/