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Objective: Few reports on sleep patterns of patients with spinal muscular atrophy type 1 (SMA1) have been published and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of infants with SMA1, compared with age- and sex-matched controls.
Methods: Twelve SMA1 patients (six males, mean age 5.9 months) and 10 controls (five males, mean age 4.8 months) underwent full polysomnography to evaluate their sleep architecture and microstructure by means of the cyclic alternating pattern (CAP).
Results: Compared with control children, SMA1 patients showed increased sleep latency and apnea/hypopnea index. CAP analysis revealed a significant increase in the percentage of A1 CAP subtypes, a reduction of that of A3 subtypes and of A2 and A3 indexes (number/h), indicating a dysfunction of the arousal system in these patients.
Conclusion: The results indicate the presence of an abnormality of sleep microstructure in SMA1 patients, characterized by a reduction of A2 and A3 CAP subtypes. We hypothesize that SMA1 patients have reduced arousability during non-rapid eye movement sleep, which could be interpreted as additional evidence of central nervous system involvement in this disease.
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http://dx.doi.org/10.1016/j.sleep.2014.05.029 | DOI Listing |
Pediatr Rep
July 2025
Department of Pathomorphology and Forensic Medicine, Faculty of Medicine, University of Warmia and Mazury in Olsztyn, 10-561 Olsztyn, Poland.
Spinal muscular atrophy type 1 (SMA1) is a severe neuromuscular disorder characterized by progressive muscle weakness and atrophy, including the muscles of the oral cavity and esophagus. Eosinophilic esophagitis (EoE), a chronic, allergic disease, presents with eosinophilic infiltration of the esophagus, leading to esophageal dysmotility. Feeding difficulties may occur in both conditions.
View Article and Find Full Text PDFNeurobiol Dis
October 2025
Laboratory of Translational Neuroscience, Ceinge Biotecnologie Avanzate "Franco Salvatore", 80145 Naples, Italy; European School of Molecular Medicine, University of Milan, 20122 Milan, Italy; Department of Environmental, Biological and Pharmaceutical Science and Technologies, University of Campania
Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder caused by homozygous loss of the survival motor neuron 1 (SMN1) gene, leading to reduced SMN protein expression. Increasing evidence implicates neurotransmission deficits in the pathophysiology of SMA. In particular, alterations in neuroactive amino acids involved in glutamatergic neurotransmission have recently been identified in both the cerebrospinal fluid (CSF) of SMApatients and the spinal cord of SMNΔ7 mouse models.
View Article and Find Full Text PDFEur J Paediatr Neurol
June 2025
Department of Paediatrics, Neuromuscular Services, Bangalore Baptist Hospital, Bangalore, India; Synapse Neuro Centre and Child Development Centre, Bangalore, India; Organization for Rare Diseases India, India.
Aim: To correlate SMN2 CN with age of disease onset, severity, motor ability and comorbidities across all SMA types from India.
Methods: This retrospective study involved the collection and analysis of clinical data, motor assessment scores, and SMN genetics from a cohort of 200 genetically confirmed SMA patients who were referred to our Paediatric Neuromuscular Centre over two years.
Results: Among the 200 subjects, 49 had SMA1, 82 had SMA2, 64 had SMA3, and 5 had SMA4.
J Neuromuscul Dis
July 2025
Pediatric Neurology and ICU Department, Garches Reference Centre for Neuromuscular Diseases (NEIF for FILNEMUS; RPC for Euro-NMD ERN), AP-HP Paris Saclay University, Hôpital Raymond Poincaré (UVSQ), 104 boulevard Raymond Poincaré, 92380 Garches, France.
BackgroundSpinal muscular atrophy (SMA) is a severe neurodegenerative disease affecting children. Three innovative disease-modifying therapies (DMTs)-nusinersen, risdiplam, and onasemnogene abeparvovec-are available for treatment.ObjectiveTo provide a descriptive overview of patients enrolled in the until July 22, 2024.
View Article and Find Full Text PDFHealth Expect
June 2025
Department of Nursing, Physiotherapy and Occupational Therapy, Faculty of Physiotherapy and Nursing, Universidad de Castilla-La Mancha, Toledo, Spain.
Background And Purpose: Spinal muscular atrophy type 1 (SMA1) is a neuromuscular disorder that severely limits movement and autonomy in young children. Early powered mobility has proved to be a valuable intervention to promote participation, social engagement and emotional well-being. To understand the potential impact of powered mobility, it is critical to explore children and families' experiences with participatory methodologies, such as the photovoice method.
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