Pediatrics

BACKGROUND AND OBJECTIVEIndividuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS.METHODSThe study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country. The data were collected by clinicians at the patient visit and by parent report for nonclinical and behavioral outcomes from September 7, 2012 through August 31, 2014. Data analyses were performed by using \u3c72 tests for association, t tests, and multiple logistic regression to examine the association between clinical and other factors with ASD status.RESULTSHalf of the males and nearly 20% of females met Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria for current ASD. Relative to the FXS-only group, the FXS with ASD (FXS+ASD) group had a higher prevalence of seizures (20.7% vs 7.6%, P < .001), persistence of sleep problems later in childhood, increased behavior problems, especially aggressive/disruptive behavior, and higher use of \u3b1-agonists and antipsychotics. Behavioral services, including applied behavior analysis, appeared to be underused in children with FXS+ASD (only 26% and 16% in prekindergarten and school-age periods, respectively) relative to other populations with idiopathic ASD.CONCLUSIONSThese findings confirm among individuals with FXS an association of an ASD diagnosis with important cooccurring conditions and identify gaps between expected and observed treatments among individuals with FXS+ASD.CC999999/Intramural CDC HHS/United StatesU01 DD000231/DD/NCBDD CDC HHS/United StatesU19 DD000753/DD/NCBDD CDC HHS/United StatesU54 HD090255/HD/NICHD NIH HHS/United States2018-06-01T00:00:00Z28814540PMC561969