The NIH Toolbox for cognitive surveillance in Duchenne muscular dystrophy

Area of Science:

• Neurology
• Genetics
• Cognitive Science

Background:

• Duchenne Muscular Dystrophy (DMD) is a genetic disorder primarily affecting males.
• Cognitive function in individuals with DMD is not fully understood.
• Maternal carriers of DMD mutations may also experience health implications.

Purpose of the Study:

• To assess cognitive function in subjects with DMD.
• To evaluate cognitive function in biological mothers of individuals with DMD.
• To explore potential cognitive differences in mothers who are carriers of DMD mutations.

Main Methods:

• Prospective, cross-sectional cognitive assessment using the National Institutes of Health Toolbox Cognition Battery (NIHTB-CB).
• Behavior Rating Inventory of Executive Functioning (BRIEF) completed by parents for children and by mothers for self-assessment.
• Neuro Quality-of-Life (NeuroQoL) Cognitive Function survey administered to mothers.

Main Results:

• Subjects with DMD scored approximately one standard deviation below age-corrected norms on total cognition and 1.5 SD below on fluid cognition.
• DMD subjects exhibited executive functioning difficulties as indicated by BRIEF scores.
• Carrier mothers performed lower on cognitive assessments compared to non-carrier mothers, particularly in executive function.

Conclusions:

• The National Institutes of Health Toolbox Cognition Battery (NIHTB-CB) is a sensitive screening tool for cognitive surveillance in DMD.
• Cognitive deficits are prevalent in individuals with DMD.
• Maternal carrier status may be associated with subtle cognitive differences.