What Genotyping Reveals in Children with Autism and Minor Congenital Anomalies

While waiting for whole-genome sequencing to become financially and technically feasible for routine clinical use, practitioners face the issue of whether to genotype children with autism spectrum disorder (ASD). These investigators asked whether a higher genetic yield would result from genotyping a subset of children with ASD and an elevated number of minor congenital anomalies that develop from the same ectodermal origins as brain tissue. These anomalies include features such as hypertelorism (wide-set eyes) and clinodactyly (crooked fingers).

Of 258 ASD participants (mean age, 4.5 years; girls, 19%; mean IQ, 102), 24% had macrocephaly, and 18% had non-brain major congenital anomalies; 29% of 164 who underwent brain magnetic resonance imag…