Objective: To describe cognitive and behavioral features of patients with chromosome 16p11.2 deletion syndrome, a recently identified and common genetic cause of neurodevelopmental disability, especially autism spectrum disorder (ASD).
Method: Twenty-one patients with 16p11.2 deletion were evaluated by medical record review. A subset of 11 patients consented to detailed cognitive, behavioral, and autism diagnostic assessment.
Results: Patients with 16p11.2 deletion had varying levels of intellectual disability, variable adaptive skills, and a high incidence of language delay. Attention issues were not as frequent as had been reported in previous clinical reports. Atypical language, reduced social skills, and maladaptive behaviors were common, as was diagnosis of ASD. Based on medical record review, 7 of 21 patients (33%) had an ASD diagnosis. Among patients receiving detailed phenotyping, 3 of 11 (27%) met full criteria (met cutoff scores on both Autism Diagnostic Observation Schedule and Autism Diagnostic Interview) for an ASD diagnosis, whereas 6 other patients (55%) met criteria for ASD on either the Autism Diagnostic Observation Schedule or the Autism Diagnostic Interview, but not both measures.
Conclusions: Rates of ASD were similar to previous reports that are based on medical record reviews, but formal assessment revealed that a majority of patients with 16p11.2 deletion demonstrate features of ASD beyond simple language impairment. All patients with 16p11.2 deletion should receive formal neurodevelopmental evaluation including measures to specifically assess cognitive, adaptive, language, and psychiatric/behavioral issues. Clinical evaluation of this patient population should always include assessment by Autism Diagnostic Interview and Autism Diagnostic Observation Schedule to detect behaviors related to ASD and possible ASD diagnosis.