The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094…

The "22q11.2 duplication" is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic "HUWE1" and "KIF1A" mutations in two severely affected ASD/ID participants carrying a 22q11.2…

Biomimicry is a useful method to develop students' skills, such as design and systems thinking, particularly when complemented with inquiry-based learning. The research seeks to uncover how students engage in the biomimicry process and what types of designs they produce to reveal insights that could assist educators in teaching biomimicry. A study…

Background: The aim of this paper was to summarize the main results of the POMONA-ESP project, the first study to explore health status in a large representative, randomized and stratified sample of people with intellectual developmental disorders in Spain. Methods: The POMONA-ESP project collected information about the health of 953 individuals…

The Interagency Autism Coordinating Committee (IACC) is a federal advisory committee that advises the Secretary of Health and Human Services (HHS) on issues related to autism spectrum disorder (ASD). It was established by the "Children's Health Act of 2000" (Public Law 106-310), reconstituted under the Combating Autism Act of 2006 (CAA;…