Abstract
The associations between genotype and autism spectrum disorder (ASD) phenotypes have been examined by Bishop and colleagues using data and samples collected from 12 centres. Participants included children (aged 4 years to 17 years, 11 months) with de novo copy number variants or loss-of-function mutations in ASD-associated genes or loci and a matched cohort of children without identified genetic mutations (n=112 per group). Compared with the matched cohort, the test cohort had a lower symptom score on the Autism Diagnostic Interview–Revised social domain, a lower degree of mismatch between verbal and non-verbal IQ, and were more likely to have achieved fluent speech or use complex sentences regularly (pcorrected=0·01 for all comparisons). Motor development was slower in the test cohort, with walking occurring at a mean age of 15·79 (SD 4·93) versus 13·54 (3·44) months in the matched cohort (pcorrected=0·001).
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