Summary: Researchers have released a comprehensive dataset combining genetic and behavioral information from more than 1,500 children and adolescents with autism who were hospitalized in psychiatric units across the United States. This collection intentionally includes many individuals who meet criteria for what is being called “profound autism” — those with minimal spoken language, intellectual disability, and very high support needs — a population that has been largely absent from prior research datasets derived from outpatient and community samples.
The newly available resource brings together detailed phenotypic assessments across multiple domains (emotion regulation, cognition, communication, sleep, and adaptive functioning), caregiver-reported measures including parental stress and self-efficacy, and whole-exome sequencing data from participants and their biological parents. By centering individuals with the most significant clinical needs, this release is intended to enable research that better reflects the full autism spectrum and to accelerate development of interventions tailored to high-need groups.
Key Facts:
- Focus on an underserved population: The dataset prioritizes children and adolescents with profound autism, who are frequently excluded from studies based in outpatient settings.
- Comprehensive, multi-domain data: Collected measures include behavioral profiles, communication skills, emotion regulation, adaptive functioning, cognitive assessments, sleep patterns, and caregiver stress and coping.
- Genetic data included: Whole-exome sequencing was performed on DNA from participants and, when available, their biological parents, enabling family-based genetic analyses.
- Purpose: To support investigations that can lead to more targeted approaches for treating and managing aggression, self-injury, emotional dysregulation, and other high-impact challenges.
Source: Boston Children’s Hospital
The Simons Foundation Autism Research Initiative (SFARI) has released the phenotypic and genetic data collected through the Autism Inpatient Collection (AIC), a cohort of over 1,500 young people, ages 4 to 20, who were admitted to one of six child psychiatry inpatient units in the United States. The AIC was designed to fill a critical gap in available research resources by enrolling participants who experience severe and complex autism-related needs.
The AIC was supported by SFARI and the Nancy Lurie Marks Family Foundation and intentionally recruited youth who are often missing from research records: those who require high levels of supervision and support. Many participants meet recently proposed definitions of profound autism, characterized by minimal verbal language or co-occurring intellectual disability.
“This dataset is the largest single collection of information on hospitalized children with autism, many of whom meet the criteria for profound autism,” says Matthew Siegel of Boston Children’s Hospital, founder and Principal Investigator of the AIC. Pairing extensive, high-quality phenotypic data with genetic sequencing across more than 1,500 participants offers the research community a chance to focus inquiry on a group with the most urgent clinical needs but the least representation in prior studies.
Phenotypic measures were systematically gathered to provide a fine-grained, multidimensional picture of functioning in this hard-to-reach population. Assessments cover domains such as behavioral problems, communication abilities, emotion regulation, adaptive daily living skills, cognitive functioning, sleep characteristics, and parental stress and self-efficacy. Collecting this breadth of data alongside genetic information enables integrated analyses that can explore how biology, behavior, and environment interact in those with severe autism presentations.
Blood samples, and saliva when blood draws were not feasible, were collected from the child participant and their biological parents. All biospecimens are stored in a central repository managed through a sample management organization, and DNA extracted from these samples has undergone whole-exome sequencing. These genetic data, combined with the large set of phenotypic measures, create opportunities for researchers to investigate genetic contributions to severe behavioral presentations and to identify potential biological targets for intervention.
“We are excited to provide this valuable resource to the scientific community and hope that it will lead to a better understanding of autism with high support needs,” says Kelsey Martin, executive vice president of autism and neuroscience at the Simons Foundation. The project reflects a decade of work and collaboration among clinicians, researchers, families, and supporting organizations.
A full listing of the phenotypic measures and study procedures is available in the AIC Researcher Welcome Packet. Researchers who meet approval requirements can request access to the de-identified data and biospecimens through SFARI Base, enabling secondary analyses, genetic studies, and collaborative projects aimed at improving outcomes for individuals with profound autism.
About this genetics and autism research news
Author: Joelle Zaslow
Source: Boston Children’s Hospital
Contact: Joelle Zaslow – Boston Children’s Hospital
Image: The image is credited to Neuroscience News