Largest Autism Inpatient Cohort Releases Genetic and Phenotypic Data for Over 1,500 Children

The Simons Foundation Autism Research Initiative (SFARI) has unveiled a comprehensive dataset comprising genetic and phenotypic information from the Autism Inpatient Collection (AIC). This cohort includes more than 1,500 children and adolescents aged 4 to 20 years, all of whom were hospitalized across six child psychiatry units in the United States. The AIC was established to focus on individuals with severe forms of autism, often characterized by intellectual disabilities or minimal verbal communication, necessitating high levels of supervision and support. These individuals are notably underrepresented in outpatient and community-based datasets.

According to Matthew Siegel of Boston Children's Hospital, who founded and leads the AIC, "This dataset is the largest single collection of information on hospitalized children with autism, many of whom meet the criteria for profound autism." The goal is to use this rich dataset, which pairs detailed behavioral and cognitive phenotypic measures with high-confidence genetic data, to accelerate research into autism, especially in children with the most urgent needs.

The data encompass key domains such as behavior, communication, emotional regulation, adaptive functioning, cognition, sleep, and parent stress and self-efficacy—offering an in-depth view of this challenging segment of the autism spectrum. Phenotypic assessments are detailed and can be reviewed in the Researcher Welcome Packet.

Biological samples, including blood or saliva when blood wasn't feasible, were collected from the children and their biological parents. These samples are stored in a centralized repository managed by SFARI. Whole-exome sequencing data derived from these samples are now accessible to researchers.

Kelsey Martin, executive vice president of autism and neuroscience at the Simons Foundation, expressed enthusiasm about the resource, highlighting its potential to improve understanding and treatment for people with high support needs. She acknowledged the contributions of participants and researchers over the past decade and emphasized that the dataset is expected to foster new discoveries in autism research.

All data and biospecimens are available for authorized use through SFARI Base, facilitating ongoing scientific advancement in understanding autism, especially in individuals with profound support requirements.