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Germline mutations in  PTEN , the gene that encodes phosphatase and tensin homolog, have been identified in up to 20% of children with autism spectrum disorder (ASD) and macrocephaly and are associated with marked abnormalities in the white matter of the brain. This study sought to characterize the neurobehavioral phenotype of  PTEN -ASD. Comprehensive neurobehavioral evaluations were conducted in 36 participants (ages 3–21 years) with  PTEN -ASD and compared to two groups of controls: non-syndromic ASD with macrocephaly (Macro-ASD,  n  = 25) and those with  PTEN  mutations without ASD ( PTEN -no ASD,  n  = 23). Linear regression analysis or Kruskal–Wallis tests were used to examine group differences on neurobehavioral measures (cognitive, behavioral, sensory, and adaptive functioning) and, for select measures, one-sample t-tests were used to compare group performance to healthy control norms. These analyses revealed a distinct neuropsychological profile associated with mutations in  PTEN  suggesting primary disruption of frontal lobe systems (i.e., attention, impulsivity, reaction time, processing speed, and motor coordination). Cognitive deficits in  PTEN -ASD are more severe than those in  PTEN -no ASD and extend to other areas of neurobehavioral function, specifically, adaptive behavior and sensory deficits. While core ASD symptoms are similar in  PTEN -ASD and Macro-ASD,  PTEN -ASD had lower clinical ratings of autism severity and showed more sensory abnormalities suggestive of less sensory responsiveness. Together, these results suggest that  PTEN -ASD has a distinct neurobehavioral phenotype compared to idiopathic ASD that is likely to warrant special consideration for overall assessment and treatment.

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN