Open AccessThe NIH Toolbox for cognitive surveillance in Duchenne muscular dystrophy
Author(s) -
Thangarajh Mathula,
Kaat Aaron J.,
Bibat Genila,
Mansour Jennifer,
Summerton Katherine,
Gioia Anthony,
Berger Carly,
Hardy Kristina K.,
Wagner Kathryn R.
Publication year - 2019
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.50867
Subject(s) - cognition , working memory , medicine , duchenne muscular dystrophy , cognitive test , executive functions , rating scale , effects of sleep deprivation on cognitive performance , audiology , clinical psychology , physical medicine and rehabilitation , psychology , developmental psychology , psychiatry
Objective We performed a prospective, cross‐sectional cognitive assessment in subjects with Duchenne Muscular Dystrophy (DMD) and their biological mothers. Methods Thirty subjects with out‐of‐frame mutations in the dystrophin ( DMD) gene, and 25 biological mothers were evaluated using the National Institutes of Health Toolbox Cognition Battery (NIHTB‐CB). A parent completed the Behavior Rating Inventory of Executive Functioning (BRIEF), a standardized rating scale of executive functioning, for their child. Mothers completed self‐reports of BRIEF and Neuro Quality‐of‐Life (NeuroQoL) Cognitive Function. Results Overall, the subjects with DMD scored approximately one standard deviation (SD) below age‐corrected norms on the NIHTB‐CB Total Cognition score. They scored 1.5 SD below age‐corrected norms in Fluid Cognition, which evaluates the cognitive domains of executive function, working memory, episodic memory, attention, and processing speed. Their performance was consistent with age expectations (i.e., within 1 SD below age‐corrected norms) in Crystalized Cognition, which evaluates vocabulary and reading. Subjects with DMD had higher T‐scores in several domains of BRIEF, demonstrating greater difficulty in executive functioning. The biological mothers had overall average or above average T‐scores on NIHTB‐CB. Mothers who were carriers of DMD mutation performed lower overall compared to mothers who were not carriers of DMD mutation (Cohen’s d = −1.1). Carrier mothers performed lower than average (1.5 SD) in Executive Function, measured by Flanker Inhibitory Control and Attention. Biological mothers scored within expected score ranges for adults in BRIEF and NeuroQoL. Interpretation The NIHTB‐CB, combined with standardized self‐reported measures, can be a sensitive screening tool for cognitive surveillance in DMD.