ADNP syndrome

ADNP syndrome, also called Helsmoortel-Van der Aa syndrome, is a neurodevelopmental disorder caused by mutations in the activity-dependent neuroprotector homeobox gene, ADNP. The mutations are not inherited from a parent but arise de novo. Its hallmark features are intellectual disability, global developmental and motor planning delays, and autism spectrum disorder or autistic features, and it is projected to be one of the most frequent single-gene causes of autism. Other commonly observed traits include hypotonia, characteristic facial features, sleep disturbance, seizures, feeding and gastrointestinal problems, visual dysfunction and hearing loss. The syndrome was first described in 2014, and diagnosis rests on genetic testing for pathogenic variants in ADNP. There is no known cure, so care is symptomatic, using speech, occupational and physical therapy and learning programs, with research into ketamine and the peptide NAP under way.