Advancing scientific knowledge for individuals severely affected by autism is a strategic priority for the leading autism science foundations and the National Institutes of Health. Knowledge and treatment options continue to lag for those who are nonverbal, have an intellectual disability or display challenging behaviors, in large part due to these groups’ underrepresentation in study samples. To address this critical knowledge gap, the Autism and Developmental Disorders Inpatient Research Collaborative (ADDIRC) is performing the Autism Inpatient Collection (AIC) study.

The AIC began in October 2013 and the database of phenotypic and biological data is growing steadily. It is targeted to ultimately include more than 1,600 individuals with autism and their biological parents, including many previously underrepresented individuals with severe forms of autism. In preliminary analyses, individuals in the AIC cohort are on average 12.6 years old, and have a nonverbal intelligence quotient of 70.9 and an Adaptive Behavior Composite of 55.6. More than half the children (52.4 percent) are nonverbal or minimally verbal, 26 percent are female and 68 percent have significant challenging behaviors, including 26 percent with self-injury¹.

Matthew Siegel and his colleagues at Maine Medical Center and five other sites are continuing to expand the AIC project. This effort is expected to: 1) fill gaps in the autism genetic library, 2) facilitate high-volume genomic interrogations of the full spectrum and accelerate the identification of autism subtypes, and 3) provide critical information to families affected by autism, particularly those families affected by more severe forms of autism and having some of the greatest need.

The primary goal for Siegel and his team is to use the AIC as a resource to apply a standardized assessment battery to the dimensions of communication ability, emotional dysregulation, challenging behaviors, intelligence, functional ability and parental stress, and to collect biological samples for genomic characterization. The secondary goal is to perform a mechanistic study of the cognitive and emotion regulation processes that may underlie these challenging behaviors in children with severe autism, as they are a significant source of disability and dysfunction. To facilitate further study of the cohort, phenotypic data and biological samples will be made available to approved investigators through SFARI Base. An online participant community, AIC@IAN, is also being formed to facilitate recontacting of the AIC cohort.