Summary: Researchers have published genetic and behavioral data of more than 1,500 children and adolescents with autism who were hospitalized in psychiatric units in the US.
The new launch includes rich phenotypic data on the regulation of emotions, cognition, communication and more, together with the sequencing of ecstasy from the participants and their parents. By capturing data from individuals with the most severe challenges, this work aims to feed more specific interventions and a deeper understanding of the complete spectrum of autism.
Key facts:
Unattended population: The data set focuses on individuals with deep autism, often excluded from research based on outpatient patients. Rich data collected: Includes behavioral, cognitive, emotional, sleep and parental sleep data, more full exoma sequencing.
Source: Boston Children’s Hospital
The Autism Research Initiative of the Simons Foundation (Sfari) has published phenotypic and genetic data of the collection of hospitalized autism (AIC) patients, a cohort of more than 1,500 young participants from 4 to 20 years that were hospitalized in one of the six child psychiatry units in the United States.
The AIC, supported by Sfari and the Family Nancy Lurie Marks Foundation, aimed at involving these individuals, many of whom comply with the criteria recently proposed for “deep autism” (autism characterized by intellectual disability or minimum language that requires high levels of supervision and support), since they are substantially restricted in data derived from minimum or community outputs.
“This data set is the largest collection of information on hospitalized children with autism, many of which meet the criteria of deep autism,” says Matthew Siegel of the Boston Children’s Hospital, who founded and is the main researcher of the AIC.
“When combining extensive phenotypic and genetic data on more than 1,500 participants with high confidence autism, we hope to increase the focus and accelerate scientific research for this group, which have the most serious needs, but we know less.
“Our goal is to promote the development of increasingly specific interventions for the significant challenges of this population, including aggression, self -harm and emotional deregulation.”
Phenotypic measures were completed for the domains of behavior, communication, emotion regulation, adaptive functioning, cognition, sleep and stress of parents and self -efficacy, providing a fine grain image of a difficult part to access the autistic spectrum.
You can find a complete list of phenotypic measures in the researcher’s welcome pack.
Blood samples were collected, or saliva when blood could not get blood, from the child with autism and their biological parents. These samples are stored in a central repository (through the sample management organization) and administered by Sfari. The complete DNA exoma sequencing data extracted from these samples are now available.
“We are excited to provide this valuable resource to the scientific community and we hope it leads to a better understanding of autism with high support needs,” says Kelsey Martin, executive vice president of autism and neuroscience of the Simons Foundation.
“We are grateful for all the participants and researchers who have made this project possible in the last 10 years, and we expect the discoveries that it will enable.”
All data and bioespecies are available for researchers approved through the Sfari base.
On this news of genetic research and autism
Author: Joelle Zaslow
Source: Boston Children’s Hospital
Contact: Joelle Zaslow – Boston Children’s Hospital
Image: The image is accredited to Neuroscience News
