Judith H. Miles

TL;DR: It is suggested that PTEN gene testing be considered for patients with autistic behaviour and extreme macrocephaly, and the gene findings may impact on recurrence risks as well as medical management for the patient.

TL;DR: The findings suggest a polygenic risk model of autism and reveal that some neurodevelopmental genes are sensitive to perturbation by multiple mutational mechanisms, leading to variable phenotypic outcomes that manifest at different life stages.

TL;DR: The current emphasis on deciphering autism spectrum disorders has accelerated the field of neuroscience and demonstrated the necessity of multidisciplinary research that must include clinical geneticists both in the clinics and in the design and implementation of basic, clinical, and translational research.

TL;DR: Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments, and results support the move from existing subgroupings of autism Spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors.

TL;DR: It is shown that reduced expression of CHD8 impacts a variety of other functionally distinct ASD-associated genes, suggesting that the diverse functions of ASD risk factors may constitute multiple means of triggering a smaller number of final common pathways.