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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 Fragile X 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.
As one of the few Fragile X Programs in the country, we have already helped hundreds of children and families with Fragile X 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.
We know that individuals with Fragile X 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 Fragile X may have.
Hyperactivity and short attention span are common characteristics of Fragile X that we take into account by breaking our evaluation process into two separate days. This “mental break” eases a child’s anxiety and agitation and allows us to gain a more accurate understanding of their baseline intellect and behavior.
Many individuals with Fragile X experience difficulties with learning to varying degrees. These learning impairments are caused by abnormalities in the brain’s functioning that make it difficult for them to think and learn in the same way as others do. Imagine that somebody told you that from this day forward, you must use your non-dominant hand to write. It would be extremely difficult because your brain has already set in place a specific system of functioning that feels perfectly normal to you. Similarly, individuals with Fragile X may feel quite motivated and competent until they try to complete a task using an approach that feels both unfamiliar and frustratingly ineffective.
Experts in the Developmental Medicine Center at Boston Children’s who specialize in evaluating intellect and diagnosing developmental disorders are a central component of our Fragile X Program.
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.
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.
Dr. Walter Kaufmann has recently joined the Fragile X Program at Boston Children's Hospital as a member of our Neurology team. Dr. Kaufmann was the director of the Fragile X Clinic at Kennedy-Krieger Institute in Maryland. He is an international authority on Fragile X syndrome and autism, and we are thrilled to have him as a member of our team.
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.
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”