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The Fragile X Program at Boston Children’s Hospital provides comprehensive evaluation and treatment to individuals and families affected by fragile X syndrome (FXS), the most common inherited genetic cause of intellectual disability.

The degree of impairment seen in individuals with FXS is very broad, ranging from those with normal IQ and mild learning disabilities to intellectual disability and autism. In addition, certain behavioral and emotional problems such as hyperactivity, social anxiety, and mood disorders, may be present.

Children and adults in our program are seen by a team of clinicians from various specialties who help manage the effects of the disorder through educational interventions and community support. In some cases, medication may also be a necessary part of treatment.

Our expertise

As one of the few fragile X programs in the country, we have already helped hundreds of children and families with FXS learn to thrive. In addition to providing a full evaluation, our team of experienced clinicians will meet with you and your family to discuss your child’s diagnosis, address any questions or concerns, and put in place a treatment plan specifically formulated to address the cognitive, mental, emotional, and physical aspects of his or her well-being.

We also understand the struggles individuals and families with fragile X syndrome face and can put you in touch with families facing similar issues.

By identifying and treating each challenge, our mission is to help individuals learn to embrace their strengths and talents so they can participate, as far as possible, as full members of society.

Our approach

We know that individuals with FXS encounter challenges in understanding and processing information in their environment. The way their mind functions can also affect the emotions they experience, their behavior, and how they react in certain situations. For this reason, we make every effort to acknowledge and respect the special limits that individuals with FXS may have.

Evaluations

The fragile X evaluation has a visit that combines both the Genetic and Developmental Medicine team members in the same visit. At this visit, we review your child’s issues in the context of their cognitive capabilities, emotional state, and developmental capabilities within the context of their general health, past history, and their educational, home, and support services. In addition, an examination as appropriate will be undertaken.

Many individuals with fragile X exhibit autistic-like features, such as poor eye contact, hand biting, hand flapping, and hypersensitivity to their environment. Members of the occupational therapy team at Boston Children’s observe these behaviors and recommend ways that can help children decrease the stress of sensory stimulation.

Should other issues need to be addressed, we may involve experts from other departments in follow up.

Treatment

We know that the best treatment approach is one specifically designed for each child. That’s why the clinicians who take part in your child’s evaluation come together as a team after the visit to discuss their own unique perspectives. This collaborative effort allows us to develop an integrated set of recommendations for the child’s school as well as advice for his or her primary care physician.

One great program

A letter received by Dr. Mandell:

Our family would like to formally recognize the Fragile X program at Boston Children’s Hospital. We have two young adults with full mutation Fragile X and they have very different needs and issues.

Our son, Patrick, is non-verbal and has significant cognitive delays. He is physically able to do most basic living skills for himself, for which we are lucky, but schoolwork, safety rules and emotional expression is another subject. At Boston Children’s, he had a full work up with some great recommendations for his school, and the professionals are very open to phone calls with questions.

Our daughter Kelley, 17, is a typical teenager, but does have issues with memory and math skills, and her future with having her own children will have to be monitored.

We are committed to finding a cure and more helpful therapies for Fragile X, and we participate in any research studies that we can. As well as being committed to research involving your hospital, we also head a resource group based out of Western Massachusetts.

Thank you for your continued support of this program and we hope with input from other families with children and adults with Fragile X, we can expand the program to offer more therapies.