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Article Provided by The ARC of Georgia
Fact
Sheet:
Fragile X Syndrome is the most common known cause of inherited
cognitive disability. People with Fragile X have a wide range of
cognitive, physical and behavioral differences. Both males and females
can be affected.
Cognitive involvement ranges from subtle learning differences to
severe cognitive disabilities and/or autistic characteristics. Common
problems include delayed developmental milestones, attention deficit,
short attention span or hyperactivity and difficulty with math.
Physical characteristics in adult males include long face, prominent
nose, large ears and enlarged testicles. Problems with loose ligaments
are common, including double-jointed fingers, flat feet and a heart
murmur. A child with Fragile X may have problems with spitting up or
colic during infancy, and frequent ear infections. He / she may also
have a high arched palate or flattened nasal bridge. Females and
children may have some of these features or may have none.
Behavior ranges from social and friendly to autistic-like and
occasionally aggressive. A child may have frequent temper tantrums,
difficulty with transitions, a preference for being alone, echolalia
or poor eye contact. People with Fragile X can become overwhelmed by
sensory stimulation.
Fragile X Syndrome occurs when a specific gene (FMR-1) on the X
chromosome becomes altered or mutated. The mutation is a repeat. Most
people’s FMR-1 gene has approximately 5 to 40 repeats; people who are
carriers of Fragile X have between 55 and 200 repeats (a premutation).
Most carriers are not affected intellectually because they have normal
levels of FMRP. People with Fragile X have over 200 repeats (a full
mutation) , which causes the FMR-1 gene to “turn off”.
Approximately 1 in 250 females and 1 in 800 males carry the
premutation.
Girls with the full mutation usually have milder symptoms than boys.
Because females have two X chromosomes, if they inherit one chromosome
with the mutation, the unaffected chromosome usually compensates. Boys
have only one X chromosome.
Helpful Information:
Although there is no cure at this time, Fragile X can be treated
through special education, speech and language therapy, occupational
therapy and physical therapy.
Parents report that Sensory Integration therapy has been helpful for
managing sensitivity to sensory input and
helping with coordination.
Some parents feel that medication is helpful in managing hyperactivity
and short attention spans, as well as aggression, anxiety and
depression.
Words you might hear:
-
FMR-1
Gene: the biochemical instruction within the body’s cells that tell
the cells how to work. The gene changed in people with Fragile X is
called FMR-1.
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FMRP: the
protein made by the FMR-1 gene.
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Premutation: a difference in a gene that does not have obvious
effects, but can contribute to a greater mutation in offspring.
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Mitral
Valve Prolapse: a bulge in the valve between the left atrium and left
ventricle of the heart that causes backward flow of blood into the
atrium.
Resources:
Fragile X Association of Georgia
National Fragile
X Foundation
National Institutes of Health – Families and Fragile X Syndrome
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The impact of a
disability can always be lessened to some degree by early intervention. |
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