A Review of and Roadmap for Data Science and Machine Learning for the Neuropsychiatric Phenotype of Autism

Autism Spectrum Disorder (autism) is a neurodevelopmental delay which affects at least 1 in 44 children. Like many neurological disorder phenotypes, the diagnostic features are observable, can be tracked over time, and can be managed or even eliminated through proper therapy and treatments. Yet, there are major bottlenecks in the diagnostic, therapeutic, and longitudinal tracking pipelines for autism and related delays, creating an opportunity for novel data science solutions to augment and transform existing workflows and provide access to services for more affected families. Several prior efforts conducted by a multitude of research labs have spawned great progress towards improved digital diagnostics and digital therapies for children with autism. We review the literature of digital health methods for autism behavior quantification using data science. We describe both case-control studies and classification systems for digital phenotyping. We then discuss digital diagnostics and therapeutics which integrate machine learning models of autism-related behaviors, including the factors which must be addressed for translational use. Finally, we describe ongoing challenges and potent opportunities for the field of autism data science. Given the heterogeneous nature of autism and the complexities of the relevant behaviors, this review contains insights which are relevant to neurological behavior analysis and digital psychiatry more broadly.