Chances are, you know someone whose life has been touched by Fragile X. It’s also highly likely that you’ve never heard of Fragile X, even though it’s the leading inherited cause of intellectual disability, autism and developmental delay.
Fragile X is actually a family of genetic conditions that can have profound effects on carriers of the defective gene as well as those with the full syndrome. Infants born with a fully mutated FMR1 gene may have Fragile X Syndrome, which can cause intellectual disability, autism and/or delays in development, speech and language.
Carriers, whose FMR1gene has changed but not fully mutated (called the premutation), may have mild problems such as a learning disability, or issues such as anxiety and social difficulty. Premutation carriers may also develop infertility and neurological problems including tremors, imbalance and dementia. Some carriers do not ever experience symptoms.
Fragile X Syndrome affects one in approximately 4,000 men and 6,000 women. Roughly one in 250 women and 800 men carry the premutation of the gene which allows it to be passed to later generations.
“Fragile X-related conditions can be life-changing, often requiring early intervention, special education, behavior management, ongoing medical care and difficult life choices,” said Lisa Craft, M.D., a developmental pediatrician at the Weisskopf Child Evaluation Center.
July is National Fragile X Awareness Month
Congress has designated July as National Fragile X Awareness Month to increase awareness and advocacy for Fragile X among the medical, school and lay communities.
“With knowledge comes power. Knowing that a child or adult has Fragile X provides the family with a ‘road map’ to help them understand the individual’s needs, challenges and strengths,” Craft said.
Fragile X testing should be considered for:
- A child with autism or developmental delays
- Adults with autism or developmental disabilities with no known cause
- Adults with a tremor or balance problem and women with fertility problems, even if no family members have been diagnosed with Fragile X.
Help close to home
The National Fragile X Foundation has affiliated with 27 Fragile X clinics nationwide. These clinics provide comprehensive evaluation and treatment recommendations and are major contributors to Fragile X research. One of these clinics is located at the Weisskopf Child Evaluation Center (WCEC).
The WCEC clinic provides evaluations by developmental pediatricians, psychologists, occupational therapists, speech-language pathologists and social workers to children through age 21. Patients benefit from state-of-the-art evaluation and treatment recommendations and may also participate in clinical trials of medication or other therapies. Adult carriers obtain genetic counseling at the clinic as well as information about specialists in adult movement disorders and infertility. A Community Support Network of local parents and families provides support, resources and educational opportunities.