Rett’s Disorder
An Overview of Rett Syndrome for Professionals
Possibly the leading cause of mental retardation
and neurodevelopmental impairment in females.
By: Natalie Sten
After this seminar you will be able to:

List the warning signs and symptoms of Rett
Syndrome.

Describe how to cope with children with Rett
Syndrome and what the most important aspects of
treatment are.

State how school dynamics can play a critical role in the
development of children with Rett Syndrome.
GLOSSARY

Rett Syndrome (RS): A neurodevelopmental disorder
that is classified as a pervasive developmental disorder

Pervasive Development Disorders (PDD):
Refers to a group of five disorders characterized by delays in the
development of multiple basic functions including socialization
and communication.

Apraxia: A neurological disorder characterized by loss of the
ability to execute or carry out learned purposeful movements,
despite having the desire and the physical ability to perform the
movements.

Respite Care: The provision of short-term, temporary
relief to those who are caring for family members who might
otherwise require permanent placement in a facility outside the
home.
What is diagnostic criteria for Rett
Syndrome?
Diagnostic Criteria for 299.80 Rett's
Disorder
All of the following:

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apparently normal prenatal and perinatal
development
apparently normal psychomotor development
through the first 5 months after birth
normal head circumference at birth
(www.cdc.gov/ncbddd/autism/overview_diagnostic_criteria.htm)
Diagnostic Criteria Continued…
Onset of all of the following after the period of normal
development:

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deceleration of head growth between ages 5 and 48 months
loss of previously acquired purposeful hand skills between 5
and 30 months with the subsequent development of
stereotyped hand movements (e.g., hand-wringing or hand
washing)
loss of social engagement early in the course ( although often
social interaction develops later)
appearance of poorly coordinated gait or trunk movements
severely impaired expressive and receptive language
development with severe psychomotor retardation
(www.cdc.gov/ncbddd/autism/overview_diagnostic_criteria.htm)
RS is Associated with PDDs or
Autistic Spectrum Disorder

Autism, also called autistic disorder, is a complex
developmental disability that appears in early
childhood, usually before age 3.

Autism prevents children and adolescents from
interacting normally with other people and affects
almost every aspect of their social and
psychological development.
How is Rett Syndrome Associated
with Autism?

Girls with RS often have autistic-like
characteristics (speech & emotional contact
impairment/ repetitive hand gestures) at an early
age but differences begin to occur as the child
continues to grow.

The critical difference is the gene mutation that is
defining of RS. However, females meeting criteria
for RS do not meet the symptoms for autism.
Symptoms seen in RS that are NOT seen in
Autism are:
Deceleration of the rate of head growth
 Loss of purposeful hand skills
 Mobility or the irregular breathing patterns
 Repertoire of purposeless hand stereotypes
 Children with RS almost always prefer people to objects
 Children with RS often enjoy affection

Who is affected by RS?

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Rett Syndrome occurs from 1 in 15,000 female
births.
A girl is born with RS once every 5 hours
around the world.
More than 99.5 % of RS occur only once in a
family.
Until 2000, RS was thought to occur only in girls
but a small number of cases have been reported
in boys also.
Warning Signs and Symptoms:
There are 4 stages in the child’s development:

Stage 1: Early Onset (6-18 months)
Slowing of an infant’s head growth after 5 months, may not make
eye contact, and may not show interest in toys. Could be calm,
quiet, and use repetitive hand movements such as hand washing or
clapping. Most girls crawl without using their hands.

Stage 2: Rapid Destructive (1-4 yrs old)
Severe impairments in speech and the lack of ability to perform
motor functions, including chewing and swallowing. Repeated hand
stereotypes become common along with possible abnormal sleeping
patterns, teeth grinding, and loss of muscle tone. Evident incidents
of breath holding or hyperventilating can occur. May become
irritable because of communication barriers and walk unsteadily due
to curvature of the spine.
Warning Signs and Symptoms
Continued…

Stage 3: Plateau (2-10 yrs. old)
Motor development is delayed (Apraxia), gastrointestinal
disorders and seizures often appear. The child’s behavior
frequently shows some improvement such as less irritability and
crying, better communication skills, and an increase in attention
span. Many patients diagnosed with RS stay in this stage for
most of their lives.

Stage 4: Late Motor Deterioration (Usually after age 10)
Patients could slowly lose their mobility, including not walking at
all. However, there is no loss of cognitive, hand or
communication skills. Recurring hand gestures often decrease.
Scoliosis may develop along with muscle inflexibility.
Do biological factors play a role?
Rett Syndrome:
Is a neurodevelopmental disorder
that is quite rare. It causes a genetic
mutation, linked to the X
chromosome, which affects the
production of a vital protein that
controls brain development.
School dynamics associated with
students with RS:

A secure emotional environment is the first, most important aspect of
a teaching environment so that children feel safe.

Children with RS could be placed in a variety of classrooms from
special education units to full inclusion according to their own
individual needs and abilities.

Structured, stimulating, restrictive-free classroom environments with
direction and organization are necessary.
Interventions must be created based on the
individualized needs of the child!
What can families do?

Respite care is the number one answer to the question:
What do families need the most?

It is important to ask the caseworker if the family
qualifies for any other state or federal programs. A
caseworker may not volunteer information about
additional funds and programs!!
Stimulating environments at home:

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Provide early exposure to age-appropriate books, toys and music
even if the child with RS appears uninterested.
Be aware of other signals to identify RS! (Renee Succa story)
Be patient. It may take longer for a child with RS to respond.
Give the child plenty of time and space.
Following directions may be challenging due to apraxia.
Emotionally motivate your child by identifying his/her interests.
Can you think of some emotionally motivating
movements that could occur automatically?
It’s the Law in Pennsylvania

A child with RS is covered by the The Individuals with Disabilities
Education Act (IDEA). This law was created to ensure services to
children with disabilities throughout the nation. IDEA controls how
states and public agencies provide early intervention, special
education and related services to children with disabilities.

Infants and toddlers with disabilities (birth-2) and their families
receive early intervention services. Children and youth (ages 3-21)
receive special education and related services.
(www.elc-pa.org)
PA Law Continued…

Your school district is required to provide transportation to
regular neighborhood schools, early childhood classroom and
special needs classroom if your school district does not have all
of these programs available (if an out–of–district program is the
most appropriate for your child).

By law, a special education evaluation is a right of every child. If
an individualized education plan is determined to be needed, the IEP
must be developed within 30 calendar days after eligibility for
special education is determined. The IEP must be completed
before actual placement and before the start of special education
and related services. Unless requested more often, all IEPs must
be reviewed at least annually by the IEP committee.
(www.elc-pa.org)
How you can help:
Raise awareness by encouraging policy changes
and funding by the scientific community and
policy makers.
HOW? Go to www.rettsyndrome.org to
learn more on awareness and advocacy.
Do not give up!!
Parents and professionals can expect difficulties.
What can help you cope?
 Talk about it.
 Be gentle with yourself.
 Learn how to ask for help.
 Trust your instincts.
 Learn to let go and to accept what can’t be changed.
Let’s talk about Lily’s Journey.
TREATMENT
“Nutrition represents one of the most important aspects of treatment in RS. It
is the cornerstone by which all other forms of therapies are made possible.”
-Marylynne Rice Asaro, Registered Dietician

Weight gain is poor in more than 85% of girls with RS.

Early interventions will aid in providing necessary calorie
intake and proper nutrition.
High-fat, high-calorie diet; delivery of liquid nutrients directly to the stomach
using a tube inserted through the nose (nasogastric feeding) or gastrostomy
feeding. In addition, sufficient intake of fluids and high-fiber foods is important
in alleviating constipation.
(www.wemove.org/rett/rett_tre.html)
Therapies Include:
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Aquatic Rehabilitation
Hydrotherapy
Love Therapy
Music Therapy
Physical Therapy
Therapist's Role
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Behaviors
Hippotherapy
Motor Development
Occupational Therapy
Speech Therapy
Where to go for more info?
1) International Rett Syndrome Association
www.rettsyndrome.org
2) NIH/National Institute of Neurological Disorders and
Stroke
www.ninds.nih.gov
3) National Institute of Child Health and Human
Development (NICHD)
www.nichd.nih.gov
References
Affholder, C. (1998). Lily’s Journey. [Electronic Version]. IRSA Fall Newsletter.
American Psychiatric Association. (2000). Diagnostic and Statistical Manual of Mental Disorders, Fourth
Edition. Retrieved September 20, 2007, from
www.behavenet.com/capsules/disorders/retts.htm
Fitzgerald, L. (2005). Rett’s Disorder. Educator’s Exchange, 11(1), 1-3.
International Rett Syndrome Association. (2006). Rett Syndrome. Retrieved September 18, 2007, from
www.rettsyndrome.org
National Institute of Child Health and Human Development. (2006, August 21). Rett Syndrome. Retrieved
September 21, 2007, from
www.nichd.nih.gov/health/topics/rett_syndrome.cfm
National Institute of Neurological Disorders and Stroke. (2007, November 28). Rett Syndrome Information
Page. Retrieved September 21, 2007, from
www.ninds.nih.gov/disorders/rett/rett.htm
Worldwide Education and Awareness for Movement Disorders. (2005, January 19). Rett Syndrome.
Retrieved September 20, 2007, from
www.wemove.org/rett/default.htm
Contact Information:
Natalie Sten
nsten@hr.pitt.edu