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FAQ
Fragile X Syndrome - FAQ
From Parents/Families
I have been told that my child has fragile X syndrome (FXS), but he has no signs of autism. Could the doctors be wrong?
Only about 20% of children with fragile X syndrome exhibit significant autistic behaviors, so it is very possible for a child
to have fragile X syndrome and not be autistic. Autistic behaviors include poor eye contact, hand-flapping, self-injurious
behavior, and poor sensory skills.
My first child has FXS. What are the chances that my next child will also have it?
The answer to this question is complicated. FXS occurs when there is an expansion of the genetic material in a specific place
on the X chromosome. The chances of having a second child with FXS increase if the mother has a larger expansion, and can
be as high as 50% if the second child is male. This should be discussed with your doctor as the risks can be better estimated
with more information about the mother's genetic material. Prenatal testing for FXS is available.
Why am I being tested for fragile X syndrome; it is my son who has the disorder?
Extended family members of individuals with FXS may have related disorders, including social problems, learning disabilities,
premature ovarian failure, and fragile X-associated trem/ataxia syndrome, depending on gene status. Screening is sometimes
done on extended family members to provide proactive care for problems that may arise as well as to give genetic counselors
more information so that they may better counsel a family regarding recurrence risk.
