Individuals with profound autism have been historically underrepresented in research. Though profoundly autistic individuals make up roughly 27 percent of the ASD population, they represent only a small portion of research participants. Consequently, research findings in the field underrepresent profoundly autistic individuals. One of the most significant reasons for this underrepresentation is the need for research participants to follow spoken or written instructions and maintain engagement with a task. In this project researchers will test a novel interactive experimental delivery system that helps people participate in research without needing to understand complex instructions. The experiment uses computer vision systems that reward participants for sitting still and attending, rather than asking a participant to sit quietly and attend to a computer screen without incentive. Using this method, researchers will study two promising biomarkers, the balance of neural activity in the brain using electroencephalography (EEG) (which is associated with sensory sensitivity), and arousal using pupil diameter (which is associated with symptoms like disordered sleep and aggression). The goal is to develop a novel system for including profoundly autistic individuals in research.
Adapting Biomarker Assays for Profound Autism
Studies using wearable devices suggest that severe behaviors like aggression and self-injury are often preceded by physiological signs that may reflect emotional dysregulation and stress, such as increased heart rate and sudden movements. In order to best manage these situations and support children with profound autism in school settings, researchers at the University of Pennsylvania developed the KeepCalm app. This app works with a wearable device and allows educators to monitor their students in real-time. The app’s interactive learning feature helps train teachers to identify early signs of distress and use appropriate de-escalation strategies before injurious behavior occurs. This information can also be shared with parents, so that they can use the same strategies at home. This project will assess the KeepCalm system in educational teams and modify the application and training to specifically accommodate students with profound autism.
Vision problems, including far- and near-sightedness, affect up to 44% of children with autism. These deficits may lead to sensory deprivation and impair skills related to autism, including attention and communication. Refractive errors are usually corrected by the use of eyeglasses or contact lenses, but most individuals with profound autism cannot tolerate wearing them and may benefit from vision-correcting, refractive surgery. In this study, pediatric ophthalmologist Dr. Margaret Reynolds will examine social reciprocity, social interaction, and adaptive behavior in children with profound autism who have had this vision-correcting surgery. The methods used to track these outcomes do not rely on the child’s speech or language ability, so those who are non- or minimally-verbal can participate. While at present only a few doctors perform this surgery in children, this relatively simple medical procedure could lead to improved quality of life and function.
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.
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.
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
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.