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Executive Functioning in the Dystrophinopathies and the Relation to Underlying Mutation Position

Published online by Cambridge University Press:  04 December 2018

Robert J. Fee ,
Jacqueline Montes  and
Veronica J. Hinton
Robert J. Fee
Affiliation:
The Graduate Center, City University of New York, Queens College, Queens, New York Gertrude H. Sergievsky Center, Columbia University, New York, New York
Jacqueline Montes
Affiliation:
Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University, New York, New York
Veronica J. Hinton*
Affiliation:
The Graduate Center, City University of New York, Queens College, Queens, New York Gertrude H. Sergievsky Center and Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
*
Correspondence and reprint requests to: Veronica J. Hinton, Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16, New York, NY 10032. E-mail: [email protected]
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Abstract

Objectives: The aim of this study was to investigate executive skills in children with dystrophinopathy and to examine the association between executive functions and dystrophin gene mutation position. Methods: Fifty boys with dystrophinopathy (mean age, 11 years 0 months; ages range, 5 to 17 years) completed measures of intellectual functioning (IF), working memory and executive functioning [including Digit Span (working memory) and measures from the NIH Toolbox (selective attention/inhibitory control, set shifting, working memory, and processing speed)]. Parents completed the Behavior Rating Inventory of Executive Function (BRIEF). Mutation positions were categorized into three groups (upstream exon 30, 31–62, and downstream exon 63). Paired-samples t tests compared performance on executive measures to IF, and a one-way (three-group) multivariate analysis of covariance compared cognitive performance with mutation location controlling for motor functioning. Results: Mean performance on all executive measures was significantly lower than IF. Parents were also more likely to rate their child with dystrophinopathy as having clinically significant executive difficulties on the Shift, Emotional Control, and Behavior Regulation indices of the BRIEF. Mutation analyses resulted in small groups limiting power to detect subtle differences. Those with a downstream mutation position had significantly poorer performance on IF and Total Digit Span, but not on other measures of executive function including behavior. Conclusions: Individuals with dystrophinopathy have executive skill deficits, but they are not generally associated with more distal mutations. (JINS, 2019, 25, 146–155)

Keywords

DystrophinIsoformsCognitionIntelligenceExecutive functionsMutations
Type
Regular Research
Information
Journal of the International Neuropsychological Society , Volume 25 , Issue 2 , February 2019 , pp. 146 - 155
Copyright
Copyright © The International Neuropsychological Society 2018 

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