8/13/2019 Fragile X Syndrome Fact Sheet

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The Leading Genetic Cause of Autism and Intellectual

Disability

What is Fragile X

Syndrome?ragile X is a genetic syndrome effecting the

X chromosome. It is the most widespread

cause of Autism and intellectual disability,

especially among boys.

The syndrome develops when a genetic

rinucelotide repeat in the X chromosome

sults in a failure to produce the Fragile X

Mental Retardation Protein (FMRP),

a protein needed for normal neural

development.

nly 1 in 5,000males are born with Fragile

X Syndrome; yet, 1 in 151 womenand 1

n 468 menhave genetic premutations

or the syndrome. Those with premutations

ay not exhibit noticeable symptoms, but are

at a greater risk of developing conditions

related to the disorder or passing the

ndrome onto their children. 23% of people

with a premutation had a child with the

disability.

ymptoms and Diagnosisragile X Syndrome can be difficult to detect

nd subsequently diagnose. Parents generally

are the first to detect symptoms of the

syndrome; symptoms become evident at

about 12 monthsfor boys and 16

monthsfor girls.

After initial detection, parents have

reported difficulties in actual diagnosis of

the disorder. According to the CDC,

Fragile X Syndrome is usually not officiallydiagnosed until 20 monthsfor boys and

26 monthsfor girls. In fact, more

than one third of families had to visittheir physician 10 timesbefore FXS

was diagnosed.

Fragile X Symptomsinclude:

Developmental Delay and

Intellectual Disability

Attention Problems

Generalized Anxiety

Hyperactivity

Autism

Seizures

Sleep Disorders

Social Anxiety

Obsessive Compulsive and

Repetitive Behavior

TreatmentWhile there is no official curefor

Fragile X Syndrome, early detection,

quality education and appropriatemedication can all help to maximize

the potential of a child with FXS.

There are no explicit FXS medicines,

but other medications may be used to

target specific symptoms, such as

ADHD, seizures, anxiety etc. Clinical

trials are currently being executed for

Fragile X specific medication.

EducationSpecial education servicesa

available to children whose

development has been hindered

Fragile X Syndrome. Under th

Individuals with Disabiliti

Education Act (IDEA), child

are provided with services from b

to 3 years of age, and then are

granted free public education fro

to 21. IDEA requires a multiface

evaluation of children with

developmental disorders. Parents professionals then agree on a pl

which best suits the childs needs

previously stated, early detection

key in providing the best care a

opportunities for children with Fr

X Syndrome.

Fragile X Syndrome:

8/13/2019 Fragile X Syndrome Fact Sheet

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