DSM-5 Changes and the Prevalence of Parent-Reported Autism Spectrum Symptoms in Fragile X Syndrome

Anne C. Wheeler, Joanna Mussey, Adrienne Villagomez, Ellen Bishop, Melissa Raspa, Anne Edwards, James Bodfish, Carla Bann, Donald B. Bailey

We used survey methodology to assess parent-reported autism symptomology in 758 individuals (639 males; 119 females) with fragile X syndrome (FXS). Caregivers reported whether their child with FXS had been diagnosed with an autism spectrum disorder (ASD) and endorsed symptoms based on a list of observable behaviors related to ASD diagnoses. Symptom counts were categorized based on DSM-IV-TR and DSM-5 criteria. Based on behavioral symptoms endorsed by caregivers, 38.7 % of males and 24.7 % of females met criteria for DSM-IV-TR diagnosis of autistic disorder. Significantly fewer males (27.8 %) and females (11.3 %) met criteria for ASD based on DSM-5 criteria. Although 86.4 % of males and 61.7 % of females met criteria for the restricted and repetitive behavior domain for DSM-5, only 29.4 % of males and 13.0 % of females met criteria for the social communication and interaction (SCI) domain. Relaxing the social communication criteria by one symptom count led to a threefold increase in those meeting criteria for ASD, suggesting the importance of subthreshold SCI symptoms for individuals with FXS in ASD diagnoses. Findings suggest important differences in the way ASD may be conceptualized in FXS based on the new DSM-5 criteria.