Dataset Information

Working Memory Alterations Plays an Essential Role in Developing Global Neuropsychological Impairment in Duchenne Muscular Dystrophy.

ABSTRACT:

Background

Neuropsychological profile of Indian Duchenne muscular dystrophy (DMD) subjects remains unidentified and needs to be evaluated.

Methods

A total of 69 DMD and 66 controls were subjected to detailed intelligence and neuropsychological assessment. The factor indexes were derived from various components of Malin's Intelligence Scale for Indian Children (MISIC) and Rey Auditory Verbal Learning Test (RAVLT).

Results

Poor verbal and visual memory profiles were demonstrated by DMDs, which include RAVLT-immediate recall (IR) (p = 0.042), RAVLT-delayed recall (DR) (p = 0.009), Rey-Osterrieth complex figure test (RCFT)-IR (p = 0.001), and RCFT-DR (p = 0.001). RAVLT-memory efficiency index demonstrated poor verbal memory efficiency (p = 0.008). Significant differences in the functioning of working memory axis [RAVLT T1 (p = 0.015), recency T1 (p = 0.004), Digit Span Backward (p = 0.103)] were observed along with reduced performance in visuomotor coordination, visuospatial, and visual recognition abilities. Block designing efficiency index and attention fraction showed a normal performance in DMD kids.

Conclusion

Working memory deficits were found to be the crucial element of cognitive functioning in DMD cases. Working memory interventions may be beneficial to improve the neuropsychological profile in DMD.

SUBMITTER: Tyagi R

PROVIDER: S-EPMC7843380 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Publications

Working Memory Alterations Plays an Essential Role in Developing Global Neuropsychological Impairment in Duchenne Muscular Dystrophy.

Tyagi Rahul R Arvind Harshita H Goyal Manoj M Anand Akshay A Mohanty Manju M

Frontiers in psychology 20210115

<h4>Background</h4>Neuropsychological profile of Indian Duchenne muscular dystrophy (DMD) subjects remains unidentified and needs to be evaluated.<h4>Methods</h4>A total of 69 DMD and 66 controls were subjected to detailed intelligence and neuropsychological assessment. The factor indexes were derived from various components of Malin's Intelligence Scale for Indian Children (MISIC) and Rey Auditory Verbal Learning Test (RAVLT).<h4>Results</h4>Poor verbal and visual memory profiles were demonstra ...[more]

PMID: 33519636

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Project description:Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most severe form. Despite the fact that there is still no cure for these serious diseases, unprecedented advances are being made for the development of therapies for DMD. Some of which are already conditionally approved: exon skipping and premature stop codon read-through. The present work aimed to characterize the mutational spectrum of DMD in an Argentinian cohort, to identify candidates for available pharmacogenetic treatments and finally, to conduct a comparative analysis of the Latin American (LA) frequencies of mutations amenable for available DMD therapies. We studied 400 patients with clinical diagnosis of dystrophinopathy, implementing a diagnostic molecular algorithm including: MLPA/PCR/Sanger/Exome and bioinformatics. We also performed a meta-analysis of LA's metrics for DMD available therapies. The employed algorithm resulted effective for the achievement of differential diagnosis, reaching a detection rate of 97%. Because of this, corticosteroid treatment was correctly indicated and validated in 371 patients with genetic confirmation of dystrophinopathy. Also, 20 were eligible for exon skipping of exon 51, 21 for exon 53, 12 for exon 45 and another 70 for premature stop codon read-through therapy. We determined that 87.5% of DMD patients will restore the reading frame with the skipping of only one exon. Regarding nonsense variants, UGA turned out to be the most frequent premature stop codon observed (47%). According to the meta-analysis, only four LA countries (Argentina, Brazil, Colombia and Mexico) provide the complete molecular algorithm for dystrophinopathies. We observed different relations among the available targets for exon skipping in the analyzed populations, but a more even proportion of nonsense variants (∼40%). In conclusion, this manuscript describes the theragnosis carried out in Argentinian dystrophinopathy patients. The implemented molecular algorithm proved to be efficient for the achievement of differential diagnosis, which plays a crucial role in patient management, determination of the standard of care and genetic counseling. Finally, this work contributes with the international efforts to characterize the frequencies and variants in LA, pillars of drug development and theragnosis.

Dataset Information

Working Memory Alterations Plays an Essential Role in Developing Global Neuropsychological Impairment in Duchenne Muscular Dystrophy.

Background

Methods

Results

Conclusion

Publications

Working Memory Alterations Plays an Essential Role in Developing Global Neuropsychological Impairment in Duchenne Muscular Dystrophy.

Similar Datasets

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