Kaufmann Authors Largest Study on ASD and Fragile X syndrome

Treatment Disparities for Individuals with ASD and Fragile X syndrome

June 1, 2017 – Current behavioral therapies for individuals with autism spectrum disorder (ASD) are underutilized in children who have both ASD and Fragile X syndrome, reports a new study published today in a Fragile X supplement to the journal Pediatrics.

ASD is a common behavioral disorder impacting 1 in 68 children in the US. In most cases, a specific cause has not been identified, though some cases can be linked to a genetic condition. Fragile X syndrome, the most common inherited form of intellectual disability, accounts for up to 6% of all cases of ASD.

Fragile X syndrome impacts approximately 1 in 4,000 males and 1 in 6,000 females. In addition to intellectual disability and other recognizable physical characteristics, individuals with Fragile X often exhibit features that are consistent with ASD including poor eye contact, social withdrawal, and repetitive behaviors.

Using data from the FORWARD (Fragile X Online Registry With Accessible Research Database) system, researchers studied nearly 600 individuals with Fragile X syndrome and found that half of males and 20% of females with Fragile X syndrome also met diagnostic criteria for ASD.

Dr. Walter Kaufmann, Ravenel Boykin Curry Chair in Genetic Therapeutics and Director of the Center for Translational Research at the Greenwood Genetic Center, is the lead author on the study.

"This study reveals several key differences between individuals with Fragile X syndrome only and those with Fragile X syndrome who also have ASD," said Kaufmann. "The patients with both diagnoses were more likely to have sleep disturbances, seizures, and a wide range of behavioral problems such as aggression, obsessive-compulsive behaviors and sensory hypersensitivity."

But what was most surprising to Kaufmann and his coauthors was that individuals with both diagnoses were less likely to be receiving behavioral services such as ABA and social skills therapies compared with individuals who had ASD alone.

"36% of children with ASD alone receive ABA services, whereas in our cohort, only 20% of Fragile X syndrome patients with ASD were receiving ABA," shared Kaufmann. "Underuse of behavioral services including ABA, tutoring, and social and vocational training is of concern considering the nature of ASD and its associated challenges, many of which show significant improvement with these therapeutic interventions."

Kaufmann also stated that further studies are needed, in part to determine the best way to diagnose ASD in individuals with intellectual disability, like Fragile X syndrome.

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