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Pediatrics Supplement on Fragile X Syndrome Calls for Early Identification of the Genetic-Based Disability

​​​​​The June 2017 issue of Pediatrics features a special supplement that explores the latest research on fragile X syndrome and calls for pediatricians to use genetic testing to identify those with the condition at an earlier age.

Fragile X syndrome is the most common inherited cause of intellectual disability and accounts for an estimated 2% to 6% of autism spectrum disorder cases.

One of the supplement articles reports that in a sample of fragile X patients attending a specialty clinic, half of the males and nearly 20% of females had autism spectrum disorder. Articles within the supplement also reinforce the need for coordinated care, therapies and psychopharmacological interventions for individuals diagnosed with fragile X syndrome. A wide range of medical, cognitive and developmental and psychiatric issues are associated with the syndrome.

Studies estimate that 1 in 4,000-5,000 males and 1 in 6,000-8,000 females have fragile X syndrome, but those numbers are based on small samples. Early identification and treatment of the syndrome remain important public health and clinical concerns. The disability's symptoms vary from person to person, making it difficult to diagnose patients without a genetic test, and the average age of a child diagnosed with the syndrome is 3 years.

The supplement, "Fragile X Syndrome​," is sponsored by the National Center on Birth Defects and Developmental Disabilities and the Centers for Disease Control and Prevention. 

Published
6/1/2017 12:00 AM
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