Developmental delay and neuropsychiatric comorbidities associated with Duchenne and Becker muscular dystrophy

Yaworski, Amanda; McMillan, Hugh J.

doi:10.1002/mus.26775

Cited by 3 publications

(4 citation statements)

References 17 publications

(27 reference statements)

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“…11 Also, the more general developmental delay, often seen in DMD, might affect their performance at the early stages as well as the presence of contractures at the ankle. [32][33][34] Young males with DMD show a functional plateau or decline in functioning starting from the age of 6 years to 6 years 6 months old, whereas typically developing males show better scores in all motor functional outcomes with increasing age. Consequently, there is an increasing gap in performance between males with and their typically developing peers with increasing age.…”

Section: Discussionmentioning

confidence: 99%

“…showed that a small reduction in muscle force can be accompanied by a large reduction in functional ability 11 . Also, the more general developmental delay, often seen in DMD, might affect their performance at the early stages as well as the presence of contractures at the ankle 32–34 . Young males with DMD show a functional plateau or decline in functioning starting from the age of 6 years to 6 years 6 months old, whereas typically developing males show better scores in all motor functional outcomes with increasing age.…”

Section: Discussionmentioning

confidence: 99%

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Reference curves of motor function outcomes in young steroid‐naïve males with Duchenne muscular dystrophy

Hoskens,

Schiava,

Goemans

et al. 2023

Develop Med Child Neuro

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AimTo investigate functional motor performance in a large cohort of young steroid‐naïve males with Duchenne muscular dystrophy (DMD) and typically developing males, and to develop specific reference curves for both groups. Also, to describe associations between anthropometric values and functional motor outcomes.MethodCross‐sectional data of 196 steroid‐naïve males with DMD aged 4 to 8 years and 497 typically developing males aged 2 years 6 months to 8 years were included. Both groups were evaluated with the time to rise from the floor test, 10‐metre walk/run test, 6‐minute walk test, and North Star Ambulatory Assessment. Reference curves with centiles 5%, 10%, 25%, 50%, 75%, 90%, and 95% were estimated using quantile regression.ResultsMales with DMD scored significantly worse on all functional motor outcomes than age‐matched typically developing males (p < 0.001): 89% to 95% of the males with DMD scored below the 5th centile of the typically developing males. No or weak correlations exist between anthropometric values and functional motor outcomes.InterpretationThe estimated reference curves can support consultation with families of young males with DMD and can support the evaluation of treatment for reaching motor skills and functional motor outcomes compared with typically developing males.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Reference curves of motor function outcomes in young steroid‐naïve males with Duchenne muscular dystrophy

Hoskens,

Schiava,

Goemans

et al. 2023

Develop Med Child Neuro

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show abstract

“…These isoforms play critical roles in various brain regions, such as the hippocampus, cerebellum's Purkinje cells, and the amygdala, with implications in GABAergic and glutaminergic transmission, fetal development, and blood–brain barrier formation. Depending on the pathogenic variant site, specific isoforms may be affected, potentially leading to associations with neuropsychiatric and neurological disorders 3–5 . However, it remains unclear whether the location of the pathogenic variant and the specific isoforms involved are directly associated with the development of epilepsy.…”

Section: Introductionmentioning

confidence: 99%

“…Depending on the pathogenic variant site, specific isoforms may be affected, potentially leading to associations with neuropsychiatric and neurological disorders. 3 , 4 , 5 However, it remains unclear whether the location of the pathogenic variant and the specific isoforms involved are directly associated with the development of epilepsy.…”

Section: Introductionmentioning

confidence: 99%

Epilepsy in Duchenne and Becker muscular dystrophies

Armijo Gómez,

Fernandez‐Garcia,

Camacho

et al. 2024

Ann Clin Transl Neurol

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ObjectiveDuchenne and Becker muscular dystrophies (DMD and BMD) are dystrophinopathies caused by variants in DMD gene, resulting in reduced or absent dystrophin. These conditions, characterized by muscle weakness, also manifest central nervous system (CNS) comorbidities due to dystrophin expression in the CNS. Prior studies have indicated a higher prevalence of epilepsy in individuals with dystrophinopathy compared to the general population. Our research aimed to investigate epilepsy prevalence in dystrophinopathies and characterize associated electroencephalograms (EEGs) and seizures.MethodsWe reviewed 416 individuals with dystrophinopathy, followed up at three centers between 2010 and 2023, to investigate the lifetime epilepsy prevalence and characterize EEGs and seizures in those individuals diagnosed with epilepsy. Associations between epilepsy and type of dystrophinopathy, genotype, and cognitive involvement were studied.ResultsOur study revealed a higher epilepsy prevalence than the general population (1.4%; 95% confidence interval: 0.7–3.2%), but notably lower than previously reported in smaller dystrophinopathy cohorts. No significant differences were found in epilepsy prevalence between DMD and BMD or based on underlying genotypes. Cognitive impairment was not found to be linked to higher epilepsy rates. The most prevalent epilepsy types in dystrophinopathies resembled those observed in the broader pediatric population, with most individuals effectively controlled through monotherapy.InterpretationThe actual epilepsy prevalence in dystrophinopathies may be markedly lower than previously estimated, possibly half or even less. Our study provides valuable insights into the epilepsy landscape in individuals with dystrophinopathy, impacting medical care, especially for those with concurrent epilepsy.

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Intervention with hand orthosis: experience from boys with Duchenne muscular dystrophy and their parents

Eriksson,

Peny-Dahlstrand,

Archenholtz

et al. 2023

Disability and Rehabilitation

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Developmental delay and neuropsychiatric comorbidities associated with Duchenne and Becker muscular dystrophy

Abstract: https://doi.org/10.1002/mus.26750.

Cited by 3 publications

References 17 publications

Reference curves of motor function outcomes in young steroid‐naïve males with Duchenne muscular dystrophy

Reference curves of motor function outcomes in young steroid‐naïve males with Duchenne muscular dystrophy

Epilepsy in Duchenne and Becker muscular dystrophies

Intervention with hand orthosis: experience from boys with Duchenne muscular dystrophy and their parents

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