Abstract
Central nervous system (CNS) involvement has been variously studied in pediatric neuromuscular disorders (NMDs). The primary goal of this study was to assess cognitive functioning in NMDs, and secondary aims were to investigate possible associations of cognitive impairment with motor impairment, neurodevelopmental delay, and genotype. This was a cross-sectional study of 43 pediatric patients, affected by six NMDs. Myotonic dystrophy type 1 (DM1) and glycogen storage disease type 2 (GSD2) patients had a delay on the Bayley-III scales. On Wechsler scales, DMD and DM1 patients showed lower FSIQ scores, with an intellectual disability (ID) in 27% and 50%, respectively. FSIQ was normal in Becker muscular dystrophy (BMD), GSD2, and hereditary motor sensory neuropathy (HMSN) patients, while higher individual scores were found in the spinal muscular atrophy (SMA) group. In the DM1 cohort, lower FSIQ correlated with worse motor performance (ρ = 0.84, p < 0.05), and delayed speech acquisition was associated with ID (p = 0.048), with worse cognitive impairment in the congenital than in the infantile form (p = 0.04). This study provides further evidence of CNS in some NMDs and reinforces the need to include cognitive assessment in protocols of care of selected pediatric NMDs.
Highlights
The last 20 years have witnessed a major expansion in the research and clinical management of neuromuscular disorders (NMDs), with an exponential increase in the knowledge of the basic biological-molecular mechanisms of illness and the introduction of innovative therapeutic applications
No causal drug is available for other NMDs such as myotonic muscular dystrophy type 1 (DM1), hereditary motor sensory neuropathy (HMSN, known as Charcot–Marie– Tooth disease, CMT) and Becker muscular dystrophy (BMD); in these NMDs the ameliorated care protocols have significantly prolonged the survival
Cognitive functioning was assessed in children and adolescents affected by 6 of the main NMDs followed at our center: Duchenne muscular dystrophy (DMD), BMD, DM1, glycogen storage disease type 2 (GSD2), spinal muscular atrophy (SMA) type 2 and 3, and HMSN type 1 and 2
Summary
The last 20 years have witnessed a major expansion in the research and clinical management of neuromuscular disorders (NMDs), with an exponential increase in the knowledge of the basic biological-molecular mechanisms of illness and the introduction of innovative therapeutic applications. Considerable progress has been made in the development of causal, mechanism-based, and disease-modifying therapies, especially with the innovative application of genetic therapy technologies. For Duchenne muscular dystrophy (DMD) patients, steroids are part of the recommended standard of care [1], and genetic therapies are available for some patients (e.g., ataluren, an oral drug that allows stop codons readthrough to take place for patients with premature stop codon point mutations [2], and eteplirsen, an antisense oligonucleotide for patients amenable to exon 51 skipping [3]). For spinal muscular atrophy (SMA) patients, three breakthrough disease-modifying therapies have been approved: nusinersen and risdiplam, which are based on antisense oligonucleotides (ASO) technologies, and an adeno-associated virus (AAV9)-mediated gene therapy (onasemnogene abeparvovec). No causal drug is available for other NMDs such as myotonic muscular dystrophy type 1 (DM1), hereditary motor sensory neuropathy (HMSN, known as Charcot–Marie– Tooth disease, CMT) and Becker muscular dystrophy (BMD); in these NMDs the ameliorated care protocols have significantly prolonged the survival
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