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Cognitive characteristics of PTEN hamartoma tumor syndromes.


ABSTRACT: 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).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. ?(2) analyses compared these classifications to expected proportions in normal control samples.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.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.

SUBMITTER: Busch RM 

PROVIDER: S-EPMC3956109 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature

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Cognitive characteristics of PTEN hamartoma tumor syndromes.

Busch Robyn M RM   Chapin Jessica S JS   Mester Jessica J   Ferguson Lisa L   Haut Jennifer S JS   Frazier Thomas W TW   Eng Charis C  

Genetics in medicine : official journal of the American College of Medical Genetics 20130307 7


<h4>Purpose</h4>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).<h4>Methods</h4>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 w  ...[more]

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