Autism often undiagnosed in males with fragile X

A new study indicates that autism spectrum disorders (ASD) often go undiagnosed in males with fragile X syndrome (FXS). 

FXS, which affects approximately one in 7,000 males and about 1 in 11,000 females, is one of the most common inherited intellectual disabilities. Typically, males with FXS are much more seriously affected than females. 

Jessica Klusek and colleagues evaluated 49 males with FXS who were between 15 and 24 years of age. Using clinical assessments by a multidisciplinary team as well as scores on two scales (the Autism Diagnostic Observation Schedule-2 and the Autism Diagnostic Interview-Revised), the researchers found that 75 percent of their participants met criteria for ASD. However, only 31 percent had received an ASD diagnosis. 

“Moreover,” the researchers say, “community diagnoses were poorly aligned with the presence of ASD symptoms as perceived by parents and professionals” and were not associated with cognitive, behavioral, or language features. 

They conclude, “Findings highlight under-identification of ASD in community settings as a significant barrier to service access for male youth with FXS. Clinical recommendations should emphasize the benefits of seeking a professional ASD evaluation for children with FXS who are noted to display key ASD symptoms.” 

Klusek comments, “Individuals with both fragile X syndrome and autism spectrum disorder are at risk for poorer education, medical, employment and independent living outcomes, so early diagnosis is essential to providing access to services that improve their success and quality of life in these areas.” 

Citations

“Predictors, parental views, and concordance across diagnostic sources of autism in male youth with fragile X syndrome: Clinical best estimate and community diagnoses,” Jessica Klusek, Elizabeth Will, Carly Moser, Kimberly Hills, Angela John Thurman, Leonard Abbeduto, and Jane E. Roberts, Research on Child and Adolescent Psychopathology, March 3, 2023. Address: Jessica Klusek, Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, 1705 College Street, Columbia, SC, 29208, [email protected]. 

—and— 

“Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening,” news release, Erin Bluvas, University of South Carolina, August 29, 2023.