Immediate Caregiving Environment of Young Children with Autism: Findings from the U.S. National Survey of Children's Health.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disability that negatively affects children's learning, motor behavior, social communication, and interaction. It was estimated that, in 2020, 1 in 36 children aged 8 years in the United States had ASD. Caring for children with ASD might exert significant psychological and emotional distress on parents.

Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants have been reported to demonstrate a phenotype of eye abnormalities and developmental delay, while biallelic loss of function variants exhibit phenotypes including microcephaly and craniofacial abnormalities, cardiac and genitourinary malformations, and abnormal neurologic activity. We report six individuals from three unrelated families harboring biallelic deleterious variants in CAPN15 with phenotypes overlapping those previously described for this disorder.