Selective deficits in verbal working memory associated with 
a known genetic etiology: The neuropsychological profile 
of Duchenne muscular dystrophy

Hinton, Veronica J.; Vivo, Darryl C. De; Nereo, Nancy; Goldstein, Édward; Stern, Yaakov

doi:10.1017/s1355617701711058

Cited by 103 publications

(124 citation statements)

References 42 publications

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“…This study recruited 12 patients [age 9.14±2.52 years (range, 6-13)] with a diagnosis of DMD (confirmed by genetic testing or muscle biopsy) from the DMD Multidisciplinary Outpatient Clinic of CAPF General Hospital, and 14 healthy volunteers [age 9.39±2.99 years (range, [6][7][8][9][10][11][12][13][14]]. Those who had a medical or surgical history of potential impact on neurocognitive functioning (e.g., head injury), were not contactable, or whose parents refused to consent were excluded.…”

Section: Participantsmentioning

confidence: 99%

“…The core cognitive deficit in DMD is "limited verbal span" (6). Some researchers have noted that children with DMD have greater difficulty on tests requiring attention to and repetition of verbal material (6)(7)(8)(9)(10). This finding remains consistent regardless of whether children with DMD are compared to normal controls, their siblings, or children with other degenerative muscle diseases.…”

Section: Introductionmentioning

confidence: 96%

“…This finding remains consistent regardless of whether children with DMD are compared to normal controls, their siblings, or children with other degenerative muscle diseases. The verbal deficits appear across all intellectual levels (7) while other areas of cognition are generally spared (8). The pathogenesis of cognitive impairment remains unexplained.…”

Section: Introductionmentioning

confidence: 99%

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Diffusion tensor imaging study in Duchenne muscular dystrophy

Fu¹,

Dong²,

Zhang³

et al. 2016

Ann. Transl. Med.

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Background: Duchenne muscular dystrophy (DMD) is a progressive muscle disorder associated with an intellectual deficit which is non-progressive. The aim of this study was to investigate brain microstructural changes in DMD and to explore the relationship between such changes and cognitive impairment.Methods: All participants (12 DMD patients, 14 age-matched healthy boys), intelligence quotients (IQs) [both full (FIQ) and verbal (VIQ)] were evaluated using the Wechsler intelligence scale for children China revised (WISC-CR) edition, and brain gray matter (GM) and white matter (WM) changes were mapped using diffusion tensor imaging (DTI) with fractional anisotropy (FA). The differences between groups were analyzed using the t-test and the association of cognition with neuroimaging parameters was evaluated using Pearson's correlation coefficient. Conclusions: There were microstructural changes of splenium of CC in DMD patients, which was associated with cognitive impairment.

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Section: Participantsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

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Diffusion tensor imaging study in Duchenne muscular dystrophy

Fu¹,

Dong²,

Zhang³

et al. 2016

Ann. Transl. Med.

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show abstract

“…We have further hypothesized that limited verbal span may be the core deficit in DMD. As deficits in verbal span have been linked to impairments in the acquisition of phonological knowledge and single-word vocabulary (Adams & Gathercole, 2000;Gathercole et al, 1997), this core deficit may also help to explain impairments seen in phonological awareness, reading, and writing found in children with DMD (Billard et al, 1992;Dorman et al, 1988;Hendriksen & Vles, 2006;Hinton et al, 2001Hinton et al, , 2004Leibowitz & Dubowitz, 1981;Worden & Vignos, 1962).…”

Section: Introductionmentioning

confidence: 99%

Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD)

Cyrulnik

Fee

Batchelder

et al. 2008

J Int Neuropsychol Soc

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The goal of the current investigation was to examine adaptive behavior and cognitive skills in young children with Duchenne muscular dystrophy (DMD), a genetic disorder that causes progressive muscular weakness and concomitant cognitive deficits. Previous studies have documented specific language deficits in older children with DMD, but there are limited data on younger children. Twenty children with DMD who were between 3 and 6 years old and 20 unaffected family control children were recruited. Parents completed questionnaires relating to development and adaptive functioning, while children completed neuropsychological testing. Results of paired t tests indicate that children with DMD are rated as delayed relative to familial controls on measures of adaptive functioning, as assessed by the Vineland Adaptive Behavior Scales. Furthermore, children with DMD exhibit impairments on multiple measures of cognition, including measures of receptive language, expressive language, visuo-spatial skills, fine-motor skills, attention, and memory skills. Across all domains examined, the young children with DMD performed more poorly than their familial controls. These deficits appear to be more generalized than those reported in older children with this disorder. Dystrophin, a missing protein product, is hypothesized to be responsible for these cognitive and behavioral impairments. (JINS, 2008, 14, 853-861.)

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“…DMD is the most common fatal genetic condition in children [2] with the prevalence of about 1 in 3,600-9,337 live male births worldwide [3,4]. It is neuromuscular disease generally caused by protein truncating mutations in large DMD gene "dystrophin" at Xp21.2 [5,6].…”

Section: Introductionmentioning

confidence: 99%

Application of Multiplex PCR for Detection of Duchunne Muscular Dystrophy: A Childhood Neuromuscular Disorder

Srivastava¹,

Srivastava²

2018

J Neurol Neurosci

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Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that affects 1 in 3,600 -6,000 males and is caused by mutation in the dystrophin gene. This is neuromuscular disorder with progressive muscle weakness, which predominantly affect males. Till date no absolute cure of the disease is available in clinical practice. Early diagnosis and timely management are requisite for DMD and it enhances the quality of life of patients. Various diagnostic approaches are available but due to accuracy, early detection and non-invasive method molecular tools are most remarkable in recent era. Multiplex PCR has emerged as one of the most convenient tools for screening of DMD in terms of its sensitivity, specificity, accuracy, cost effectiveness and time consumption. The current study emphasizes advantages and shortcomings of multiplex PCR with reference to most of the past studies along with its challenges for DMD detection in detail. Mutation detection is evidently crucial for diagnosis, as well as it may also be significant for future therapeutic purposes. Further research is important to elucidate specific mutation pattern in association with management and therapies of proband.

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Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy

Cited by 103 publications

References 42 publications

Diffusion tensor imaging study in Duchenne muscular dystrophy

Diffusion tensor imaging study in Duchenne muscular dystrophy

Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD)

Application of Multiplex PCR for Detection of Duchunne Muscular Dystrophy: A Childhood Neuromuscular Disorder

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