Fragile X Syndrome

Also known as: FRAXA, FXS.

What is Fragile X syndrome?

Fragile X syndrome is a genetic disorder caused by a mutation (change) on the X chromosome that affects brain development and function. It is the most common inherited cause of mental retardation (and autism). Behavior and learning challenges (children can find it hard to understand and process information), are common, and the condition occurs more frequently in boys (who tend to have a more severe intellectual disability and behavior problems ) than girls and is found in all racial and ethnic groups.

What causes Fragile X syndrome?

Fragile X syndrome occurs due to a genetic mutation on the X chromosome that prevents a protein being formed which plays an important role in the functioning of the brain. As opposed to most carriers of an abnormal gene who are generally unaffected by the mutation (silent carriers) mothers and fathers who carry a form of the gene, a “premutation” are at risk to develop Fragile X- associated disorders. A “premutation” may become unstable and become a full mutation in the child.

What are the symptoms of Fragile X syndrome?

Common symptoms of Fragile X syndrome include developmental delays, learning disabilities, speech and language problems and social, emotional and behavioral issues (hyperactivity and being shy and anxious particularly in new situations ). They may also have unique physical features such as a long and narrow face, prominent ears, poor muscle tone, soft skin, flat feet, loose flexible joints, large ears and many other characteristics.

What are Fragile X syndrome care options?

As there is no cure for Fragile X syndrome, treatment is aimed at helping the children learn language and social skills. A multidisciplinary team which might include pediatric specialists in speech therapy, behavioral therapy, sensory integration occupational therapy, special education, individualized educational plans and, when necessary, treatment of physical abnormalities. Results are better when treatment is started early.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 6/21/2019 2:26:46 AM

Weekly Support Programs

​F.O.C.U.S. Program

8 week program. This group therapy program is designed for children ages 7 to 17 with behaviorial issues, including but not limited to ADHD. The weekly sessions teach innovative techniques to assist children with managing feelings, developing organization skills, maximizing their concentration abilities and socialization skills. Learn more.

Calm Kids

8 week program. Calm Kids is a weekly group therapy course designed to teach children strategies on how to take control over anxiety symptoms. Children will learn how to cope with fears and worries, identify anxiety triggers, how to relax the mind and body and maximize their self-confidence. Learn more.

Teen Sleep Group

8 week program. This program is designed for teens ages 13-16 experiencing difficulties related to sleep, including daytime sleepiness, trouble waking in the morning, difficulty falling asleep and waking in the middle of the night. The goal of this group is to give teens the tools and strategies they need in order to get more sleep and better quality sleep. Learn more.

Pain Management Group

8 week program. This program is specifically designed to empower children ages 7-18 through complex sensory experiences. Each session is created to teach participants evidenced-based techniques to better manage pain and improve overall quality of life. Learn more.

Social Skills Group

8 week program. Children and teens ages 7 to 17 are invited to join this small discussion group to learn how to make, cultivate and maintain friendships. Participants will learn basic conversational skills, and discuss the use of appropriate humor, how to electronically connect with others, and how to manage disagreements. Learn more.