Kaufmann Authors Largest Study on ASD and Fragile X syndrome


Treatment Disparities for Individuals with ASD and Fragile X syndrome

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.

For more information, contact Lori Bassett

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger St...

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