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Busch, Robyn M.; Srivastava, Siddharth; Hogue, Olivia; Frazier, Thomas W.; Klaas, Patricia; Hardan, Antonio; Martinez-Agosto, Julian A.; Sahin, Mustafa; Eng, Charis; Warfield, Simon K.; Scherrer, Benoit; Dies, Kira; Filip-Dhima, Rajna; Gulsrud, Amanda; Hanson, Ellen; Phillips, Jennifer M.

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

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  • Media type: E-Article
  • Title: Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN
  • Contributor: Busch, Robyn M.; Srivastava, Siddharth; Hogue, Olivia; Frazier, Thomas W.; Klaas, Patricia; Hardan, Antonio; Martinez-Agosto, Julian A.; Sahin, Mustafa; Eng, Charis; Warfield, Simon K.; Scherrer, Benoit; Dies, Kira; Filip-Dhima, Rajna; Gulsrud, Amanda; Hanson, Ellen; Phillips, Jennifer M.
  • Published: Springer Science and Business Media LLC, 2019
  • Published in: Translational Psychiatry, 9 (2019) 1
  • Language: English
  • DOI: 10.1038/s41398-019-0588-1
  • ISSN: 2158-3188
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>Germline mutations in <jats:italic>PTEN</jats:italic>, 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 <jats:italic>PTEN</jats:italic>-ASD. Comprehensive neurobehavioral evaluations were conducted in 36 participants (ages 3–21 years) with <jats:italic>PTEN</jats:italic>-ASD and compared to two groups of controls: non-syndromic ASD with macrocephaly (Macro-ASD, <jats:italic>n</jats:italic> = 25) and those with <jats:italic>PTEN</jats:italic> mutations without ASD (<jats:italic>PTEN</jats:italic>-no ASD, <jats:italic>n</jats:italic> = 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 <jats:italic>PTEN</jats:italic> suggesting primary disruption of frontal lobe systems (i.e., attention, impulsivity, reaction time, processing speed, and motor coordination). Cognitive deficits in <jats:italic>PTEN</jats:italic>-ASD are more severe than those in <jats:italic>PTEN</jats:italic>-no ASD and extend to other areas of neurobehavioral function, specifically, adaptive behavior and sensory deficits. While core ASD symptoms are similar in <jats:italic>PTEN</jats:italic>-ASD and Macro-ASD, <jats:italic>PTEN</jats:italic>-ASD had lower clinical ratings of autism severity and showed more sensory abnormalities suggestive of less sensory responsiveness. Together, these results suggest that <jats:italic>PTEN</jats:italic>-ASD has a distinct neurobehavioral phenotype compared to idiopathic ASD that is likely to warrant special consideration for overall assessment and treatment.</jats:p>
  • Access State: Open Access