Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey

Köken, Özlem Yayıcı; Kucur, Ozge; Taşkiran, Candan; Öztoprak, Ülkühan; Sel, Çiğdem Genç; Aksoy, Erhan; Aksoy, Ayşe; Yoldaş, Tamer; Yüksel, Deniz

doi:10.4274/jcp.2021.0003

Cited by 3 publications

(6 citation statements)

References 12 publications

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“…Thirty-nine articles comprised data on DMD (84.78%), seven articles related to BMD (15.22%). Three articles reported data on both DMD and BMD [ 13 , 39 , 108 ] and were counted twice (in both samples). Publication dates ranged from 1972 to 2022.…”

Section: Resultsmentioning

confidence: 99%

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Wechsler Scale Intelligence Testing in Males with Dystrophinopathies: A Review and Meta-Analysis

et al. 2022

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Background: Intelligence scores in males with Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) remain a major issue in clinical practice. We performed a literature review and meta-analysis to further delineate the intellectual functioning of dystrophinopathies. Method: Published, peer-reviewed articles assessing intelligence, using Wechsler Scales, of males with DMD or BMD were searched from 1960 to 2022. Meta-analysis with random-effects models was conducted, assessing weighted, mean effect sizes of full-scale IQ (FSIQ) scores relative to normative data (Mean = 100, Standard Deviation = 15). Post hoc we analysed differences between performance and verbal intelligence scores. Results: 43 studies were included, reporting data on 1472 males with dystrophinopathies; with FSIQ scores available for 1234 DMD (k = 32) and 101 BMD (k = 7). DMD males score, on average, one standard deviation below average (FSIQ = 84.76) and significantly lower than BMD (FSIQ = 92.11). Compared to a previous meta-analysis published in 2001, we find, on average, significantly higher FSIQ scores in DMD. Conclusion: Males with Duchenne have, on average, significantly lower FSIQ scores than BMD males and the general population. Clinicians must consider lower intelligence in dystrophinopathies to ensure good clinical practice.

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Section: Resultsmentioning

confidence: 99%

“…We aim to give an update on the VIQ-PIQ split in DMD and BMD, as this is a clinically relevant split that is reformulated in the newest versions as verbal comprehension and perceptual organization. VIQ and PIQ in dystrophinopathies are still reported in recent studies [ 23 , 24 , 39 ].…”

Section: Introductionmentioning

confidence: 99%

Wechsler Scale Intelligence Testing in Males with Dystrophinopathies: A Review and Meta-Analysis

et al. 2022

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“…Of the 2913 records initially identified (Figure S1), 59 were read in full text, of which 49 met the inclusion/exclusion criteria and were included in the systematic review (Table S1) 31–79 (47 of them in the meta‐analyses 32–39,41–79 ), while 10 were excluded for not including the outcome of interest or for other justified reasons (Table S2).…”

Section: Resultsmentioning

confidence: 99%

“…Furthermore, there was a large variability in the estimates among the different studies in DMD. Thus, some of the higher or lower estimates could be due, in part, to the included sample size 43,51,75 or to the data collection methods used. 47,68,70 Our results also showed a synergistic correlation between IDD and genotype in DMD.…”

Section: Discussionmentioning

confidence: 99%

“…Table S5 summarizes the individual estimates of the prevalence of IDD and the abnormal range of verbal IQ and performance IQ in each study. In BMD, the prevalence of IDD ranged from 0.00 75 to 0.33 (95% CI 0.06-0.79), 74 while in DMD, the prevalence of IDD ranged from 0.02 (0.01-0.06) 68 to 0.42 (0.24-0.61). 70 Overall, there was a trend towards a higher prevalence of IDD in DMD than in BMD.…”

Section: Systematic Reviewmentioning

confidence: 96%

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Global prevalence of intellectual developmental disorder in dystrophinopathies: A systematic review and meta‐analysis

Pascual‐Morena

Cavero‐Redondo

Álvarez‐Bueno

et al. 2022

Develop Med Child Neuro

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Aim To estimate the global prevalence of intellectual developmental disorder (IDD) and the IDD prevalence–genotype association in Becker muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD) according to the affected isoforms of the DMD gene: Dp427, Dp140, Dp71. Method Systematic searches in MEDLINE, Scopus, Web of Science, and the Cochrane Library were conducted from inception of each database to March 2022. Observational studies that determined the prevalence of IDD in the population with BMD or DMD were included. Meta‐analyses of IDD prevalence and prevalence ratios of the IDD–genotype association were conducted. Results Forty‐nine studies were included. The prevalence of IDD in BMD was 8.0% (95% confidence interval 5.0–11.0), and in DMD it was 22.0% (18.0–27.0). Meta‐analyses of IDD–genotype association showed a deleterious association between IDD and the number of isoforms affected in DMD, with a prevalence ratio = 0.43 (0.28–0.64) and 0.17 (0.09–0.34) for Dp140+/Dp71+ versus Dp140−/Dp71+ and Dp140+/Dp71+ versus Dp140−/Dp71− comparisons respectively. However, in BMD, there was no association for Dp140+/Dp71+ versus Dp140−/Dp71+. Interpretation There is a high prevalence of IDD in BMD and DMD. Moreover, the number of isoforms affected is strongly and negatively associated with the prevalence of IDD in DMD. What this paper adds The global prevalence of intellectual developmental disorder (IDD) was 8% in Becker muscular dystrophy and 22% in Duchenne muscular dystrophy (DMD). The global prevalence of IDD in DMD was 12%, 29%, and 84% in participants with Dp427−/Dp140+/Dp71+, Dp427−/Dp140−/Dp71+, and Dp427−/Dp140−/Dp71− genotypes respectively. In DMD, 12% and 22% of participants had abnormal performance IQ and verbal IQ values respectively.

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Quality of life assessment instruments in children and adolescents with neuromuscular diseases: a systematic scoping review

Cruz,

Santos,

de Jesus Alves de Baptista

et al. 2024

Health Qual Life Outcomes

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Objective (1) To identify instruments used to assess quality of life (QoL) in children and adolescents with neuromuscular diseases; (2) To identify the psychometric properties contained in these instruments. Methods This is a scoping review in which the electronic databases Embase, Scielo, Scopus, Pubmed and Lilacs were used as well as grey literature. The following terms were used in the search for articles published in the last 10 years: children, adolescents, neuromuscular disease, and quality of life. Results In total, 15 articles were included and evaluated, indicating 7 instruments used to assess QoL (PedsQL™ Inventory 3.0 Neuromuscular Module, the PedsQL™ 4.0, the PedsQL DMD Module, the PedsQL ™ MFS, the SOLE, the KIDSCREEN and the LSI-A). The number of items ranged from 17 to 45. In addition, 6 instruments showed psychometric properties, but only 2 showed good and high quality, either in internal reliability or reproducibility. Conclusion Our results were able to map the main QoL assessment instruments of children and adolescents with neuromuscular disease and the most cited instrument was the PedsQL™ Inventory 3.0 Neuromuscular Module. Larger studies that assess psychometric properties and that are validated for most diseases are needed.

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Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey

Cited by 3 publications

References 12 publications

Wechsler Scale Intelligence Testing in Males with Dystrophinopathies: A Review and Meta-Analysis

Wechsler Scale Intelligence Testing in Males with Dystrophinopathies: A Review and Meta-Analysis

Global prevalence of intellectual developmental disorder in dystrophinopathies: A systematic review and meta‐analysis

Quality of life assessment instruments in children and adolescents with neuromuscular diseases: a systematic scoping review

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