Autism Spectrum Disorder Associated with Germline Heterozygous Mutations.

This review examines our current understanding of autism spectrum disorder (ASD), its prevalence, impact, behavioral treatment, and outcomes. Building on this knowledge, ASD associated with mutations is introduced and recent human studies of neurobehavioral and neuroimaging findings in patients with mutations with and without ASD are reviewed. In doing so, we present evidence supporting a model of PTEN loss leading to neurobehavioral deficits, including ASD and intellectual disability. Next, we describe the neurobehavioral spectrum observed across mutation cases, adding specificity where possible, based on data from recent studies of child and adult patients. Finally, we end with a discussion of potential clinical recommendations for improving interventions and supports for people with -ASD and future research avenues for understanding and treating the functional and cognitive deficits in -ASD.