Fragile X Syndrome

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Fragile X Syndrome

• A PowerPoint presentation
• By Judy Owen
• For EDE 712-- Advanced Human
• Growth and Development

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Table of Contents
Kenneth M. and Judy L. Owen

• Intervention strategies.
• Inclusion.
• Research.
• Early Identification.

• Genetics of Fragile X.
• Physical features.
• Physical symptoms.
• Cognitive/behavior impairments.

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Genetics of Fragile X
Fragile X is a gene disorder on the X
chromosome that occurs in both males
and females, but males are typically
affected more severely because they only have
one X chromosome. It can be passed down
through generations in a carrier status, with
increasing chances of the gene expanding into
the full disorder. Fragile X shuts down the
gene responsible for producing FMRP, a protein
essential for normal brain function.

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Physical features

• Broad forehead.
• Large head.
• Large, prominent ears.
• Flat feet.
• Flexible joints.
• Large ears.
• Enlarged testicles (males).

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Physical symptoms
Frequent ear and sinus
infections. Nearsightedness and lazy
eye. Digestive disorders that cause
frequent gagging, vomiting, and discomfort.
A small percentage may also experience
seizures.
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Cognitive/behavior impairments

• Mental impairment, ranging from learning
  disabilities to mental retardation.
• Attention deficit and hyperactivity.
• Anxiety and unstable mood.
• Autistic-like behavior.

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Intervention strategies
Speech-language and occupational therapies
beginning at about 21 months. Behavior
management plans that address aggression to
self or others, consistency in behavior, controll
ing impulsivity, preventing escalation of
frustration, and providing a consistent
routine and structured environment.
Flexibility in demands for sitting still.

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Inclusion
North Carolina project found that by second
grade, almost all Fragile X boys were in special
education classrooms. The percentage of FXS boys
in regular classrooms is considerably lower than
the national Statistics for all children with
mental retardation. This means theres a lot of
work to do to facilitate the inclusion of
children with FXS in regular classrooms. This
will be challenging because many Fragile X
children struggle with basic skills. By age 8
--64 could dress themselves. --64 could
care for toileting needs. --41 could bathe
themselves. --20 could state their telephone
number or address. --29 could write their
first and last name.

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Research
There are many on-going research projects
concerning Fragile X. Scientists are looking at
4 approaches to attacking this genetic disorder
1. Fix the gene so that it can make its normal
protein. 2. Make and deliver the protein by some
other means. 3. Substitute for the function of
the protein. 4. Treat the symptoms of Fragile X.
Currently, treating the symptoms is all that
can be done.

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Early Identification
Parents of FXS children would
like to see early identification of
Fragile X kids so that intervention can get
started. Some of the early signs of
Fragile X, such as inability to cuddle,
fussiness or delayed attainment of
developmental milestones (walking,
talking), are subtle, and it may take a
long time for a doctor to find that a
problem exists. It is not until about
22-24 months, however that the typical
Fragile X child is diagnosed as developmentally
delayed. It is still another year before
the average child is diagnosed with
Fragile X (35 months). As a result, many cases of
Fragile X syndrome remain undiagnosed or
are diagnosed later than most parents would
prefer.