Specific cognitive deficits are common in children with Duchenne muscular dystrophy

Abstract

A neuropsychological assessment was conducted to study cognition, with emphasis on memory, information processing/learning ability, and executive functions in boys with Duchenne muscular dystrophy (DMD). A group of 20 boys with DMD, aged 7 to 14 years (mean age 9 years 5 months, SD 2 years 2 months), was contrasted with 17 normally developing age‐matched comparison individuals, using specific neuropsychological tests (Block Span, Digit Span, Story Recall, Rey Auditory Verbal Learning Test, Rey Complex Figure Test, Spatial Learning Test, Verbal Fluency, Trail Making Test, Tower of London, Memory for Faces, and Raven's Coloured Progressive Matrices). The DMD group performed significantly worse on all aspects of memory, learning, and executive functions. There was no significant difference in general intellectual ability between the two groups. Analyses of group differences indicate that problems in short‐term memory are the most apparent, suggesting specific cognitive deficits. The differences between the groups were similar for both verbal‐auditory and visuospatial tests, thus contradicting the idea that cognitive deficits are related to type of stimulus presented. It is concluded from this study that short‐term memory deficits might play a critical role in the cognitive impairment and intellectual development seen in those with DMD.

Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy

“…The results reported herein, however, contradict another study that found limited executive functions in boys with DMD. 8 Conversely, on the verbal level, we also found restrictions in executive functions. 6,8 Our participants performed very poorly on the subtest ''phonemic verbal fluency" of the RWT, in which the boys had to produce as many words as possible starting with the letter ''s".…”

“…8 Conversely, on the verbal level, we also found restrictions in executive functions. 6,8 Our participants performed very poorly on the subtest ''phonemic verbal fluency" of the RWT, in which the boys had to produce as many words as possible starting with the letter ''s". However, such restrictions in verbal fluency are discussed controversially in the literature.…”

“…In addition to poor performance in short-term verbal (working) memory, executive functions and deficits in some aspects of attention, problems with narrative/linguistic/reading skills and delays in the acquisition of language have been reported. 3,[5][6][7][8][9][10][11][12] These observations have led to the hypothesis that these neuropsychological restrictions may originate in the cerebellum because patients with DMD show similar cognitive problems as patients with cerebellar lesions. [11][12][13] In contrast to the well-known muscular degeneration, patients suffering from DMD seem to have non-progressive cognitive deficits.…”

Cognitive dysfunction in the dystrophin-deficient mouse model of Duchenne muscular dystrophy: A reappraisal from sensory to executive processes

“…Impairments in working or short-term memory and limited verbal/auditory span have been highlighted as cardinal features of the neurocognitive profile in DMD, even in individuals with an IQ within the normal range, suggesting a link with the full-length brain dystrophin commonly lost in all patients (Hinton, De Vivo, Nereo, Goldstein, & Stern, 2000;Hinton, De Vivo, Nereo, Goldstein, & Stern, 2001 however, suggest the presence of a broader deficit in higher-order cognitive processing capabilities, specifically in executive function, which might constitute a core endophenotype leading to cognitive deficits in DMD (Donders & Taneja, 2009;Mento, Tarantino, & Bisiacchi, 2011;Wicksell, Kihlgren, Melin, & Eeg-Olofsson, 2004). Executive functions refer to a set of control processes that optimize performance in cognitive tasks, mediate adapted and flexible behaviors and contribute to the temporal encoding and effortful processing in working memory required for response selection.…”

A Cross-Sectional Study of School Experiences of Boys with Duchenne and Becker Muscular Dystrophy

“…Interestingly, in a study on variation in educational services receipt among U.S. children with developmental conditions (autism spectrum disorder, developmental delay, and intellectual disability), Lindly, Sinche, and Zuckerman (2015) observed that children with intellectual disability were more likely to have received one or more school-based therapies (OT, PT, social skills training, ST, or language therapy) than those with autism and developmental delay, while children with developmental delay were less likely than the rest of the sample to have received one or more school-based therapies. While we did not measure the level of intellectual delay/disability in our study sample, we do know that 20-50% of boys with DMD are diagnosed with cognitive deficits (Wicksell et al, 2007). Evaluating cognitive deficits and the receipt of therapies for cognitive disorders was beyond the scope of our study.…”