Rett’s DisorderRett’s Disorder An Overview of Rett Syndrome for An Overview of Rett Syndrome for

ProfessionalsProfessionals

Possibly the leading cause of mental Possibly the leading cause of mental retardation and neurodevelopmental retardation and neurodevelopmental

impairment in females.impairment in females.

By: Natalie StenBy: Natalie Sten

After this seminar you will After this seminar you will be able to:be able to:

List the warning signs and symptoms of List the warning signs and symptoms of Rett Syndrome.Rett Syndrome.

Describe how to cope with children with Describe how to cope with children with Rett Syndrome and what the most Rett Syndrome and what the most important aspects of treatment are.important aspects of treatment are.

State how school dynamics can play a State how school dynamics can play a critical role in the development of critical role in the development of children with Rett Syndrome.children with Rett Syndrome.

GLOSSARYGLOSSARY Rett Syndrome (RS): Rett Syndrome (RS): A neurodevelopmental disorder A neurodevelopmental disorder

that is classified as a pervasive developmental disorder that is classified as a pervasive developmental disorder

Pervasive Development Disorders (PDD): Pervasive Development Disorders (PDD): Refers to a group of five disorders characterized by delays in Refers to a group of five disorders characterized by delays in the development of multiple basic functions including the development of multiple basic functions including socialization and communication.socialization and communication.

Apraxia: Apraxia: A neurological disorder characterized by loss of A neurological disorder characterized by loss of the ability to execute or carry out learned purposeful the ability to execute or carry out learned purposeful movements, despite having the desire and the physical ability movements, despite having the desire and the physical ability to perform the movements.to perform the movements.

Respite Care: Respite Care: The provision of short-term, temporary The provision of short-term, temporary relief to those who are caring for family members who might relief to those who are caring for family members who might otherwise require permanent placement in a facility outside the otherwise require permanent placement in a facility outside the home.home.

What is diagnostic criteria What is diagnostic criteria for Rett Syndrome?for Rett Syndrome?

Diagnostic Criteria for 299.80 Diagnostic Criteria for 299.80 Rett's DisorderRett's Disorder

All of the following: All of the following: apparently normal prenatal and apparently normal prenatal and

perinatal development perinatal development apparently normal psychomotor apparently normal psychomotor

development through the first 5 development through the first 5 months after birth months after birth

normal head circumference at birth normal head circumference at birth

(www.cdc.gov/ncbddd/autism/overview_diagnostic_criteria.htm)(www.cdc.gov/ncbddd/autism/overview_diagnostic_criteria.htm)

Diagnostic Criteria Diagnostic Criteria Continued…Continued…

Onset of all of the following after the period Onset of all of the following after the period of normal development: of normal development: deceleration of head growth between ages 5 and 48 deceleration of head growth between ages 5 and 48

months months loss of previously acquired purposeful hand skills loss of previously acquired purposeful hand skills

between 5 and 30 months with the subsequent between 5 and 30 months with the subsequent development of stereotyped hand movements (e.g., development of stereotyped hand movements (e.g., hand-wringing or hand washing) hand-wringing or hand washing)

loss of social engagement early in the course loss of social engagement early in the course ( although often social interaction develops later) ( although often social interaction develops later)

appearance of poorly coordinated gait or trunk appearance of poorly coordinated gait or trunk movements movements

severely impaired expressive and receptive language severely impaired expressive and receptive language development with severe psychomotor retardation development with severe psychomotor retardation

(www.cdc.gov/ncbddd/autism/overview_diagnostic_criteria.htm)(www.cdc.gov/ncbddd/autism/overview_diagnostic_criteria.htm)

RS is Associated with PDDs RS is Associated with PDDs or Autistic Spectrum or Autistic Spectrum

DisorderDisorder Autism, also called autistic disorder, Autism, also called autistic disorder,

is a complex developmental disability is a complex developmental disability that appears in early childhood, that appears in early childhood, usually before age 3. usually before age 3.

Autism prevents children and Autism prevents children and adolescents from interacting normally adolescents from interacting normally with other people and affects almost with other people and affects almost every aspect of their social and every aspect of their social and psychological development. psychological development.

How is Rett Syndrome How is Rett Syndrome Associated with Autism?Associated with Autism?

Girls with RS often have autistic-like Girls with RS often have autistic-like characteristics (speech & emotional characteristics (speech & emotional contact impairment/ repetitive hand contact impairment/ repetitive hand gestures) at an early age but differences gestures) at an early age but differences begin to occur as the child continues to begin to occur as the child continues to grow.grow.

The critical difference is the gene The critical difference is the gene mutation that is defining of RS. However, mutation that is defining of RS. However, females meeting criteria for RS do not females meeting criteria for RS do not meet the symptoms for autism.meet the symptoms for autism.

Symptoms seen in RS that are NOT Symptoms seen in RS that are NOT seen in Autism are:seen in Autism are:

Deceleration of the rate of head growthDeceleration of the rate of head growth Loss of purposeful hand skillsLoss of purposeful hand skills Mobility or the irregular breathing Mobility or the irregular breathing

patternspatterns Repertoire of purposeless hand Repertoire of purposeless hand

stereotypesstereotypes Children with RS almost always prefer Children with RS almost always prefer

people to objects people to objects Children with RS often enjoy affectionChildren with RS often enjoy affection

Who is affected by RS?Who is affected by RS?

Rett Syndrome occurs from 1 in Rett Syndrome occurs from 1 in 15,000 female births.15,000 female births.

A girl is born with RS once every 5 A girl is born with RS once every 5 hours around the world.hours around the world.

More than 99.5 % of RS occur only More than 99.5 % of RS occur only once in a family.once in a family.

Until 2000, RS was thought to occur Until 2000, RS was thought to occur only in girls but a small number of only in girls but a small number of cases have been reported in boys cases have been reported in boys also. also.

Warning Signs and Warning Signs and Symptoms:Symptoms:

There are 4 stages in the child’s There are 4 stages in the child’s development:development:

Stage 1: Early Onset (6-18 months) Stage 1: Early Onset (6-18 months)

Slowing of an infant’s head growth after 5 months, may Slowing of an infant’s head growth after 5 months, may not make eye contact, and may not show interest in toys. not make eye contact, and may not show interest in toys. Could be calm, quiet, and use repetitive hand movements Could be calm, quiet, and use repetitive hand movements such as hand washing or clapping. Most girls crawl such as hand washing or clapping. Most girls crawl without using their hands. without using their hands.

Stage 2: Rapid Destructive (1-4 yrs old) Stage 2: Rapid Destructive (1-4 yrs old) Severe impairments in speech and the lack of ability to Severe impairments in speech and the lack of ability to perform motor functions, including chewing and perform motor functions, including chewing and swallowing. Repeated hand stereotypes become common swallowing. Repeated hand stereotypes become common along with possible abnormal sleeping patterns, teeth along with possible abnormal sleeping patterns, teeth grinding, and loss of muscle tone. Evident incidents of grinding, and loss of muscle tone. Evident incidents of breath holding or hyperventilating can occur. May breath holding or hyperventilating can occur. May become irritable because of communication barriers and become irritable because of communication barriers and walk unsteadily due to curvature of the spine. walk unsteadily due to curvature of the spine.

Warning Signs and Warning Signs and Symptoms Continued…Symptoms Continued…

Stage 3: Plateau (2-10 yrs. old) Stage 3: Plateau (2-10 yrs. old) Motor development is delayed (Apraxia), Motor development is delayed (Apraxia), gastrointestinal disorders and seizures often appear. gastrointestinal disorders and seizures often appear. The child’s behavior frequently shows some The child’s behavior frequently shows some improvement such as less irritability and crying, better improvement such as less irritability and crying, better communication skills, and an increase in attention communication skills, and an increase in attention span. Many patients diagnosed with RS stay in this span. Many patients diagnosed with RS stay in this stage for most of their lives. stage for most of their lives.

Stage 4: Late Motor Deterioration (Usually after age Stage 4: Late Motor Deterioration (Usually after age 10) 10)

Patients could slowly lose their mobility, including not Patients could slowly lose their mobility, including not walking at all. However, there is no loss of cognitive, walking at all. However, there is no loss of cognitive, hand or communication skills. Recurring hand hand or communication skills. Recurring hand gestures often decrease. Scoliosis may develop along gestures often decrease. Scoliosis may develop along with muscle inflexibility. with muscle inflexibility.

Do biological factors play a Do biological factors play a role?role?

Rett Syndrome: Rett Syndrome:

Is a neurodevelopmental Is a neurodevelopmental disorder that is quite rare. It disorder that is quite rare. It causes a genetic mutation, causes a genetic mutation, linked to the X chromosome, linked to the X chromosome, which affects the production which affects the production of a vital protein that of a vital protein that controls brain development.controls brain development.

School dynamics associated School dynamics associated with students with RS:with students with RS:

A secure emotional environment is the first, most A secure emotional environment is the first, most important aspect of a teaching environment so that important aspect of a teaching environment so that children feel safe.children feel safe.

Children with RS could be placed in a variety of Children with RS could be placed in a variety of classrooms from special education units to full inclusion classrooms from special education units to full inclusion according to their own individual needs and abilities.according to their own individual needs and abilities.

Structured, stimulating, restrictive-free classroom Structured, stimulating, restrictive-free classroom environments with direction and organization are environments with direction and organization are necessary. necessary.

Interventions must be created based on the Interventions must be created based on the individualized needs of the child!individualized needs of the child!

What can families do?What can families do?

Respite careRespite care is the number one answer to is the number one answer to the question: What do families need the the question: What do families need the most?most?

It is important to ask the caseworker if It is important to ask the caseworker if the family qualifies for any other state or the family qualifies for any other state or federal programs. A caseworker may not federal programs. A caseworker may not volunteer information about additional volunteer information about additional funds and programs!!funds and programs!!

Stimulating environments Stimulating environments at home:at home:

Provide early exposure to age-appropriate books, Provide early exposure to age-appropriate books, toys and music even if the child with RS appears toys and music even if the child with RS appears uninterested. uninterested.

Be aware of other signals to identify RS! Be aware of other signals to identify RS! (Renee (Renee Succa story)Succa story)

Be patient. It may take longer for a child with RS to Be patient. It may take longer for a child with RS to respond. Give the child plenty of time and space. respond. Give the child plenty of time and space.

Following directions may be challenging due to Following directions may be challenging due to apraxia. apraxia. Emotionally motivate your child by Emotionally motivate your child by identifying his/her interests.identifying his/her interests.

Can you think of some emotionally motivating Can you think of some emotionally motivating

movements that could occur automatically?movements that could occur automatically?

It’s the Law in It’s the Law in PennsylvaniaPennsylvania

A child with RS is covered by the The Individuals with A child with RS is covered by the The Individuals with Disabilities Education Act (IDEA). This law was created to Disabilities Education Act (IDEA). This law was created to ensure services to children with disabilities throughout ensure services to children with disabilities throughout the nation. IDEA controls how states and public agencies the nation. IDEA controls how states and public agencies provide early intervention, special education and related provide early intervention, special education and related services to children with disabilities.services to children with disabilities.

Infants and toddlers with disabilities (birth-2) and their Infants and toddlers with disabilities (birth-2) and their families receive early intervention services. Children and families receive early intervention services. Children and youth (ages 3-21) receive special education and related youth (ages 3-21) receive special education and related services.services.

(www.elc-pa.org)(www.elc-pa.org)

PA Law Continued…PA Law Continued… Your school district is required to provide Your school district is required to provide

transportation to regular neighborhood schools, early transportation to regular neighborhood schools, early childhood classroom and special needs classroom if childhood classroom and special needs classroom if your school district does not have all of these your school district does not have all of these programs available (if an out–of–district program is programs available (if an out–of–district program is the most appropriate for your child). the most appropriate for your child).

By law, a special education evaluation is a right of By law, a special education evaluation is a right of every child. If an every child. If an individualized education planindividualized education plan is is determined to be needed, the IEP must be developed determined to be needed, the IEP must be developed within 30 calendar days after eligibility for special within 30 calendar days after eligibility for special education is determined. The IEP must be completed education is determined. The IEP must be completed before actual placement and before the start of before actual placement and before the start of special education and related services. Unless special education and related services. Unless requested more often, all IEPs must be reviewed at requested more often, all IEPs must be reviewed at least annually by the IEP committee.least annually by the IEP committee.

(www.elc-pa.org)(www.elc-pa.org)

How How youyou can help: can help:Raise awareness by encouraging Raise awareness by encouraging policy changes and funding by the policy changes and funding by the

scientific community and policy scientific community and policy makers. makers.

HOW?HOW? Go to Go to www.rettsyndrome.orgwww.rettsyndrome.org to learn to learn more on awareness and advocacy.more on awareness and advocacy.

Do not give up!!Do not give up!!

Parents and professionals can expect Parents and professionals can expect difficulties. What can help you cope?difficulties. What can help you cope?

Talk about it.Talk about it. Be gentle with yourself.Be gentle with yourself. Learn how to ask for help.Learn how to ask for help. Trust your instincts.Trust your instincts. Learn to let go and to accept what can’t be Learn to let go and to accept what can’t be

changed.changed.

Let’s talk about Lily’s Journey. Let’s talk about Lily’s Journey.

““Nutrition represents one of the most important aspects of Nutrition represents one of the most important aspects of treatment in RS. It is the cornerstone by which all other treatment in RS. It is the cornerstone by which all other

forms of therapies are made possible.forms of therapies are made possible.””-Marylynne Rice Asaro, Registered -Marylynne Rice Asaro, Registered

DieticianDietician Weight gain is poor in more than 85% of girls Weight gain is poor in more than 85% of girls with RS. with RS.

Early interventions will aid in providing Early interventions will aid in providing necessary calorie intake and proper nutrition.necessary calorie intake and proper nutrition.

High-fat, high-calorie diet; delivery of liquid nutrients High-fat, high-calorie diet; delivery of liquid nutrients directly to the stomach using a tube inserted through directly to the stomach using a tube inserted through the nose (nasogastric feeding) or gastrostomy the nose (nasogastric feeding) or gastrostomy feeding. In addition, sufficient intake of fluids and feeding. In addition, sufficient intake of fluids and high-fiber foods is important in alleviating high-fiber foods is important in alleviating constipation.constipation.

(www.wemove.org/rett/rett_tre.html)(www.wemove.org/rett/rett_tre.html)

TREATMENT

Therapies Include:Therapies Include:

Aquatic Aquatic RehabilitationRehabilitation

Hydrotherapy        Hydrotherapy        Love Therapy    Love Therapy    Music Therapy  Music Therapy  Physical Physical

Therapy        Therapy        Therapist's Therapist's

Role             Role            

Behaviors Behaviors Hippotherapy Hippotherapy Motor Motor

Development Development Occupational Occupational

Therapy Therapy Speech TherapySpeech Therapy

Where to go for more Where to go for more info?info?

1) International Rett Syndrome Association 1) International Rett Syndrome Association www.rettsyndrome.orgwww.rettsyndrome.org

2) NIH/National Institute of Neurological 2) NIH/National Institute of Neurological Disorders and StrokeDisorders and Strokewww.ninds.nih.govwww.ninds.nih.gov

3) 3) National Institute of Child Health and National Institute of Child Health and Human Development (NICHD)Human Development (NICHD)www.nichd.nih.govwww.nichd.nih.gov

ReferencesReferencesAffholder, C. (1998). Affholder, C. (1998). Lily’s JourneyLily’s Journey. [Electronic Version]. IRSA Fall Newsletter.. [Electronic Version]. IRSA Fall Newsletter.

American Psychiatric Association. (2000). Diagnostic and Statistical Manual of American Psychiatric Association. (2000). Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Retrieved September 20, 2007, from Mental Disorders, Fourth Edition. Retrieved September 20, 2007, from www.behavenet.com/capsules/disorders/retts.htmwww.behavenet.com/capsules/disorders/retts.htm

Fitzgerald, L. (2005). Rett’s Disorder. Fitzgerald, L. (2005). Rett’s Disorder. Educator’s Exchange, Educator’s Exchange, 11(1), 1-3.11(1), 1-3.

International Rett Syndrome Association. (2006). International Rett Syndrome Association. (2006). Rett SyndromeRett Syndrome. Retrieved . Retrieved September 18, 2007, from September 18, 2007, from www.rettsyndrome.orgwww.rettsyndrome.org

National Institute of Child Health and Human Development. (2006, August 21). National Institute of Child Health and Human Development. (2006, August 21). Rett Syndrome. Rett Syndrome. Retrieved September 21, 2007, from Retrieved September 21, 2007, from www.nichd.nih.gov/health/topics/rett_syndrome.cfmwww.nichd.nih.gov/health/topics/rett_syndrome.cfm

National Institute of Neurological Disorders and Stroke. (2007, November 28). National Institute of Neurological Disorders and Stroke. (2007, November 28). Rett Syndrome Information Page. Rett Syndrome Information Page. Retrieved September 21, 2007, fromRetrieved September 21, 2007, fromwww.ninds.nih.gov/disorders/rett/rett.htmwww.ninds.nih.gov/disorders/rett/rett.htm

Worldwide Education and Awareness for Movement Disorders. (2005, January Worldwide Education and Awareness for Movement Disorders. (2005, January 19). 19). Rett Syndrome. Rett Syndrome. Retrieved September 20, 2007, fromRetrieved September 20, 2007, fromwww.wemove.org/rett/default.htmwww.wemove.org/rett/default.htm

Contact Information:Contact Information:

Natalie StenNatalie Sten

nsten@hr.pitt.edunsten@hr.pitt.edu