PURPOSE: We sought to characterize cognition in individuals with germline PTEN mutations (n = 23) as well as in PTEN mutation-negative individuals with classic Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome (n = 2). METHODS: Twenty-five individuals completed a comprehensive neuropsychological evaluation. One sample t-tests and effect sizes were used to examine differences in participant test scores compared with normal controls. Composite scores were created for each patient within each of the cognitive domains assessed and classified as above average, average, or below average according to normative standards. χ(2) analyses compared these classifications to expected proportions in normal control samples. RESULTS: The mean intelligence quotient was in the average range, and the range of intellectual functioning was very wide (from extremely low to very superior). However, in a large subset of patients, scores were lower than expected on measures of motor functioning, executive functioning, and memory recall, suggesting disruption of frontal circuits in these participants. CONCLUSION: This is the first study to characterize cognition in individuals with PTEN mutations and associated syndromes using a comprehensive neuropsychological battery. Contrary to previous reports suggesting an association with intellectual disability, the mean intelligence quotient was average, and there was a broad range of intellectual abilities. Specific evidence of disruption of frontal circuits may have implications for treatment compliance and cancer surveillance, and further investigation is warranted.
PURPOSE: We sought to characterize cognition in individuals with germline PTEN mutations (n = 23) as well as in PTEN mutation-negative individuals with classic Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome (n = 2). METHODS: Twenty-five individuals completed a comprehensive neuropsychological evaluation. One sample t-tests and effect sizes were used to examine differences in participant test scores compared with normal controls. Composite scores were created for each patient within each of the cognitive domains assessed and classified as above average, average, or below average according to normative standards. χ(2) analyses compared these classifications to expected proportions in normal control samples. RESULTS: The mean intelligence quotient was in the average range, and the range of intellectual functioning was very wide (from extremely low to very superior). However, in a large subset of patients, scores were lower than expected on measures of motor functioning, executive functioning, and memory recall, suggesting disruption of frontal circuits in these participants. CONCLUSION: This is the first study to characterize cognition in individuals with PTEN mutations and associated syndromes using a comprehensive neuropsychological battery. Contrary to previous reports suggesting an association with intellectual disability, the mean intelligence quotient was average, and there was a broad range of intellectual abilities. Specific evidence of disruption of frontal circuits may have implications for treatment compliance and cancer surveillance, and further investigation is warranted.
Authors: T M Starink; J P van der Veen; F Arwert; L P de Waal; G G de Lange; J J Gille; A W Eriksson Journal: Clin Genet Date: 1986-03 Impact factor: 4.438
Authors: Amanda K Tilot; Mary K Gaugler; Qi Yu; Todd Romigh; Wanfeng Yu; Robert H Miller; Thomas W Frazier; Charis Eng Journal: Hum Mol Genet Date: 2014-01-26 Impact factor: 6.150
Authors: Mirko Uljarević; Thomas W Frazier; Gaëlle Rached; Robyn M Busch; Patricia Klaas; Siddharth Srivastava; Julian A Martinez-Agosto; Mustafa Sahin; Charis Eng; Antonio Y Hardan Journal: J Autism Dev Disord Date: 2021-02-17
Authors: Mirko Uljarević; Thomas W Frazier; Gaëlle Rached; Robyn M Busch; Patricia Klaas; Siddharth Srivastava; Julian A Martinez-Agosto; Mustafa Sahin; Charis Eng; Antonio Y Hardan Journal: Am J Med Genet A Date: 2021-08-23 Impact factor: 2.802