Clinical Characteristics

In a study of 15 individuals with a CHD8 genetic mutation, 13 met strict criteria for Autism Spectrum Disorder, and high rates of macrocephaly (80%) and gastrointestinal disturbances (80%), specifically constipation, were reported.

Additionally, sleep problems, cognitive impairment, and similar facial features of these individuals, including increased occipitofrontal circumference (OFC), pronounced brow ridge, wide-set eyes with down slanted palpebral fissures, broader nose and pointed chin, were reported (Bernier 2014).