A case study of autism spectrum disorder (ASD) symptomatology in a child with 15q13.3 deletion and Williams syndrome

Abstract

A variety of genetic disorders of known etiology present with behavioral profiles similar to that described in autism spectrum disorders (ASDs). Although some of these disorders are more likely to be associated with a comorbid ASD diagnosis, there exist cases in which there is a lack of empirical evidence to support a dual diagnosis. Two disorders, Williams syndrome (WS) and 15q13.3 deletion syndrome, have both been reported in the literature as examples of this phenotypic overlap. We present a case study of a young child with both WS and 15q13.3 deletion syndrome and significant ASD-related symptomatology. The results of a developmental evaluation, specifically the rationale for ruling out a comorbid ASD, are the focus of the present report. Implications for careful diagnostic consideration in cases of patients with known genetic conditions are also discussed.