What to do if your child is diagnosed with Fragile X Syndrome

Fragile X Syndrome (FXS) is a genetic disease that is inherited from your parents. Also known as Martin-Bell Syndrome, it causes both developmental and intellectual disabilities.

This is the top hereditary cause of mental disability, particularly in boys, and it affects one in every 4,000 boys while affecting roughly one in every 8,000 girls. Also, boys’ symptoms will typically be more severe.

Diagnosing FXS in Children

  • Children who have FXS often show delays in their development.
  • Outward signs of this disorder include subtle differences in a child’s facial features from a young age, as well as a larger than normal head circumference.
  • Children may also have social anxiety or difficulty paying attention. They might feel depressed or hyperactive, have difficulty sleeping, or exhibit seizures.

Children can be tested to determine if they have Fragile X Syndrome, and if they test positive, they can begin receiving supportive therapy.

Most of the time, boys are anywhere from 35-37 months old when they’re diagnosed, while girls are typically 41.6 months old when they’re diagnosed with FXS.

What To Do If Your Child Has Fragile X Syndrome

There aren’t any specific treatments for FXS, and there’s no cure for this condition. Instead, all that’s available is supportive therapy for any child who’s diagnosed.

Treatments will be focused upon helping your child learn important social and language skills. It’s likely that your child will need extra assistance from therapists, doctors, coaches, family members, and teachers in order to progress.

To reduce behavioral issues, your child shouldn’t be excessively stimulated. Medications can also be used to manage any behavioral issues that your son or daughter is experiencing. Prescriptions that can be taken to treat behavioral problems include Ritalin, Catapres, Intuniv, Lexapro, Zoloft, and Cymbalta.

To treat heart issues, connective tissue problems, and hearing and vision problems, talk to your child’s doctor, who can prescribe the appropriate treatments specifically designed for those ailments. Special education, as well as vocational training, can also be helpful.

Long Term Expectations for Children with FXS

Because FXS is not curable, it will be with an individual for life. School, work, and personal relationships can be adversely affected, so supportive therapies will be necessary to keep symptoms in check.

Roughly 9% of men and 44% of women who have been diagnosed with Fragile X Syndrome will be able to develop a higher level of independence by the time they are adults. Many individuals who have FXS will be unable to get a high school diploma or find and succeed at full-time employment.

Are You a Carrier?

If you’re planning on having children but you’re concerned that you might be a carrier for FXS, talk to your doctor, as genetic tests are available to determine if you really need to worry about passing this disorder on to your children. This is especially important if you have a family history of Fragile X Syndrome.

FXS needs to be accurately diagnosed in order to be treated properly, as many of its symptoms can also be associated with other conditions. If you’re at all concerned about your child’s ability to grow and learn, talk to your doctor.

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Last Reviewed:
December 20, 2016
Last Updated:
September 21, 2017
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