Autism Science Foundation Awards First Round of Profound Autism Pilot Grants

January 11, 2023 — The Autism Science Foundation (ASF), a nonprofit organization dedicated to funding innovative autism research and supporting families facing autism, today announced the recipients of its inaugural profound autism pilot grants. Four grants will be awarded to researchers for projects examining sleep, neuropsychiatric regression, and self-injurious behaviors, as well as methods to improve access to communications systems for people with profound autism. 

ASF launched this new funding mechanism less than a year after The Lancet Commission on the Future of Care and Clinical Research in Autism – a group of autism researchers, advocates, and experts – first called for the use of the term “profound autism” to describe individuals with autism who have minimal verbal ability or intellectual disability.

“The time has come to recognize that profound autism is drastically different than the autism represented on sitcoms and in movies and to fund research studies that focus specifically on the needs of this significantly underfunded and underrepresented population”, said ASF Co-Founder and President Alison Singer.

“These new projects will ensure that those across the spectrum are represented in autism research” said ASF Chief Science Officer Dr. Alycia Halladay. “We received 40 applications for these grants and are thrilled to be partnering with two amazing patient advocacy groups, CureShank and the Phelan-McDermid Syndrome Foundation, on this initiative, demonstrating the broad and growing interest in serving the autism community.”

The following projects were selected for funding:

Improving Access to Communication Systems Among Those with Profound Autism in Diverse Communities
Charlotte DiStefano, Ph.D. Children’s Hospital of Los Angeles

Individuals with profound autism may use a number of methods to try to communicate, including augmentative and alternative communication (AAC) systems. These systems range from pictures and communication boards to speech-generating devices and iPads and have been shown to improve overall communication and promote spoken language development. However, these AAC systems are not always accessible to all families. Utilizing the population of patients at the Children’s Hospital of Los Angeles (of which 40% are uninsured and 65% are from an ethnically diverse background), this study will examine factors influencing access to and use of AAC systems. 

Testing a Novel Device to Study Sleep at Home in Children with Profound Autism
Dimitrios Mylonas, Ph.D. Massachusetts General Hospital

Sleep problems are highly prevalent in individuals with profound autism and exacerbate emotional disturbances, cognitive deficits, and challenging behaviors. Existing studies of sleep in autism have mostly excluded children with profound autism. This omission has been blamed on the added burden, expense, and difficulty of studying sleep in children with profound autism in a lab setting. This grant will expand a sleep study currently in progress to add a cohort of children with profound autism. The goal of the study is to validate the use of a minimally invasive headband device that measures sleep quality at home and provides data on specific brainwave patterns during different phases of sleep in people with autism vs. people without autism.

Modeling Neuroinflammation and Neuropsychiatric Regression in Profound Autism
Sheng-Nan Qiao, Ph.D. Yale University

Individuals with profound autism may sometimes exhibit neuropsychiatric regression, which can include catatonia, hyper aggression, and cognitive decline. This regression has been linked to infection in girls with Phelan McDermid Syndrome, a genetic condition associated with profound autism. There is some preliminary evidence linking the administration of anti-inflammatory drugs to the reversal of this regression. This animal model study will look at whether mice with the genetic mutation associated with Phelan McDermid Syndrome are more susceptible to the effects of inflammation-inducing drugs, and whether these effects can be mediated by inflammation-reducing drugs.

This project is co-sponsored by CureShank and the Phelan-McDermid Syndrome Foundation 

Examining the Relationship between Self Injurious Behavior and Medical Conditions in People with Profound Autism
Giacomo Vivanti, Ph.D. Drexel University

Self-injurious behaviors such as headbanging, scratching, and biting are common in individuals with profound autism but are poorly understood. Some of these behaviors may be responses to pain or discomfort caused by a pre-existing medical condition or unmet medical need, but this is difficult to assess in those with a limited ability to communicate. As a consequence, the medical needs of people with profound autism may not always be identified through routine healthcare visits.  Working with a large residential and day program service provider, this study will examine the relationship between medical conditions and self-injurious behaviors, and determine whether interventions addressing medical conditions could alleviate self-injurious behaviors. This project will also assess the feasibility, acceptability, and effectiveness of a new protocol designed to facilitate successful healthcare visits for people with profound autism.