Cognitive profile and neuropsychiatric disorders in Becker muscular dystrophy: A systematic review of literature

Ferrero, Amanda; Rossi, Mathias

doi:10.1016/j.neubiorev.2022.104648

Cited by 13 publications

(14 citation statements)

References 47 publications

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“…In contrast to DMD, less research was conducted on measuring intelligence in BMD boys. A recent review by Ferrero and Rossi (2022) [ 30 ] reported on six articles since 1995 on intelligence in BMD. They reported mean FSIQ scores of males with BMD to be (low) average [ 31 , 32 ], where the FSIQ ranged from 82.8 to 95.6.…”

Section: Introductionmentioning

confidence: 99%

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: Introductionmentioning

confidence: 99%

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

et al. 2022

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“…As with DMD, boys with BMD may have mild learning disabilities (Emery, 2002). Ferrero and Rossi (2022) examined the literature on cognitive levels and neuropsychiatric disorders in individuals with BMD. They found that symptoms in both domains may be present in a significant percentage of individuals with BMD and stressed the importance of cognitive and mental health screenings.…”

Section: Cognitive/academicmentioning

confidence: 99%

“…As with any chronic medical condition, the clinical presentation is not limited to physical symptoms but also may include social-emotional and behavioral challenges. Ferrero and Rossi (2022) recommended both neurodevelopmental and neuropsychological assessments at the time of diagnosis. Based on their insights of the increased incidence of cognitive and neuropsychiatric impairments in individuals with BMD, it is suggested that cognitive rehabilitation and behavioral management be an additional and key component of the interprofessional team.…”

Section: Social-emotional and Behavioralmentioning

confidence: 99%

Muscular dystrophies.

Tucker,

Jeune

2023

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M uscular dystrophies are a group of neuromuscular disorders with similar features. Duchenne muscular dystrophy (DMD) is the most common and is a terminal condition characterized by progressive muscular damage, muscle weakness, loss of functional mobility, and respiratory and cardiac impairments (Birnkrant et al., 2018;Leigh et al., 2018). While the life expectancy has lengthened with improved medical management, it remains shortened at only 20 to 30 years. Clinical presentations for the distinct types of muscular dystrophies vary; however, diagnosis and medical management have improved, resulting in longer lifespans than previous generations. Thus, it is critical to provide comprehensive multidisciplinary care to maximize quality of life. ETIOLOGYA mutation in the dystrophin gene results in insufficient amounts of dystrophin, which is a protein critical for normal muscle activity that enables optimal function of the myofibers in muscles (Birnkrant et al., 2018;Leigh et al., 2018). The lack of dystrophin leads to muscle damage. As the muscle tissue is broken down, it is replaced with fibrotic tissue and fat (Leigh et al., 2018). Becker muscular dystrophy (BMD) is a variant of DMD. Differences between BMD and DMD result from the amount of dystrophin available. In DMD there is an absence of dystrophin; however, with BMD, an abnormal version of dystrophin

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“…The DMD gene is also expressed in the central nervous system (CNS). Specifically, the full‐length isoform, Dp427, and the short isoforms, Dp140 and Dp71, and their alterations increase the risk of brain‐related disorders and reduce the quality of life of these individuals and their families [10–12]. Thus, dystrophin is expressed in the amygdala, hippocampus and brain, with differential expression of Dp427 in the postsynaptic membranes of GABAergic neurons anchoring GABA A receptors, Dp140 has particularly high expression during CNS development in the foetal stage and lower expression throughout life, and Dp71 is ubiquitously expressed in the CNS and is involved in glutamatergic transmission and motility cells and, together with Dp140, in the formation of the blood–brain barrier.…”

Section: Introductionmentioning

confidence: 99%

Intelligence quotient–genotype association in dystrophinopathies: A systematic review and meta‐analysis

Pascual‐Morena

Cavero‐Redondo

Sequí‐Domínguez

et al. 2023

Neuropathology Appl Neurobio

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Aims: Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are associated with intelligence quotients (IQs) lower than the normative values, and it is suggested that IQ is negatively correlated with the number of affected isoforms (i.e., Dp427, Dp140 and Dp71). Therefore, the objective of this meta-analysis was to estimate the IQ, and the IQ-genotype association according to the altered dystrophin isoforms, in the population with BMD or DMD. Methods: A systematic search in Medline, Web of Science, Scopus and the Cochrane Library was conducted from inception to March 2023. Observational studies that determined the IQ and/or the IQ by genotype in the population with BMD or DMD were included. Meta-analyses of IQ, IQ by genotype and IQ-genotype association by comparing IQ according to the genotype were conducted. The results are shown as the mean/ mean differences and 95% confidence intervals.Results: Fifty-one studies were included. The IQ in BMD was 89.92 (85.84, 94.01) and in DMD was 84.61 (82.97, 86.26). Moreover, the IQ for Dp427À/Dp140+/Dp71+ and Dp427À/Dp140À/Dp71+ was 90.62 (86.72, 94.53) and 80.73 (67.49, 93.98) in BMD, while the IQ for Dp427À/Dp140+/Dp71+, Dp427À/Dp140À/Dp71+ and Dp427À/

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Cognitive profile and neuropsychiatric disorders in Becker muscular dystrophy: A systematic review of literature

Cited by 13 publications

References 47 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

Muscular dystrophies.

Intelligence quotient–genotype association in dystrophinopathies: A systematic review and meta‐analysis

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