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Background: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder, the phenotype of the disease is caused by the mutation of the SMN1 (survival motor neuron 1) gene which encodes for the SMN protein. Innovative treatments for SMA have become available and the first molecule approved is Nusinersen, an antisense oligonucleotide that increases the production of SMN protein. Nusinersen has been shown to be associated with a significant motor improvement and an increase of the event-free survival. For these reasons the aim of the present study is to assess if Nusinersen is able modify sleep architecture and microstructure and to improve sleep structure in these patients., Methods: Sixteen patients affected by SMA1 were enrolled in the study (4 boys, 12 girls; median age 72.5 months, intelligence quotient range 24-84). All patients underwent complete nocturnal PSG before the start of the treatment trough intrathecal injections with Nusinersen (T0) and after the fifth infusion (day 180, T180). PSG recordings were visually scored and interpreted according to the indications of the American Academy of Sleep Medicine (AASM) and and microstructure by means of the Cyclic Alternating Pattern (CAP)., Results: After 6 months therapy we found a significantly reduced sleep latency and a significantly increased sleep efficiency. Regarding sleep microstructure parameters (CAP), we did not find any significant change after therapy however, it is worth mentioning that a moderate effect size was observed for the increase in CAP A3 index., Conclusions: We observed short-term effects of Nusinersen on sleep with an improvement in sleep efficiency and reduction in sleep onset latency; regarding sleep microstructure, a moderate effect size was found for the number of CAP A3 subtypes that slightly increased, possibly indicating a slightly higher arousability. This finding points at a probably overall better sleep pattern organization associated with the treatment, but they need to be confirmed by larger studies with patients treated earlier in life and for a longer period., Competing Interests: Declaration of competing interest Authors declare none., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Objective: Changes of sleep architecture have been reported in children with Spinal Muscular Atrophy type 2 (SMA2), mainly represented by a decrease of arousability. No studies have evaluated the effect of long-term ventilation on sleep parameters in these children. The aim of this study was to evaluate the effects of long-term non-invasive positive pressure ventilation (LTNPPV) on sleep architecture and to assess the residual differences from normal controls., Methods: Nine consecutive children with SMA2 underwent two distinct polysomnographic (PSG) studies, one in spontaneous breathing, and subsequently after LTNPPV. The results were then compared to 15 age-matched controls., Results: SMA2 patients showed only slightly modified sleep architecture on LTNPPV: increased stage N2% and decreased number of awakenings, while several significant differences persisted between SMA2 patients on LTNPPV and controls (decreased total sleep time, number of awakenings, sleep efficiency, and percentage of REM sleep). Sleep microstructure, evaluated by means of the Cyclic alternating pattern (CAP) showed only marginal changes on LTNPPV (small shortening of CAP A1 subtype duration and small increase in CAP A3 index). Conversely, CAP parameters on LTNPPV showed significant differences between SMA2 patients vs. controls, with increased A1 subtype percentage and decreased percentage of A2 and A3 subtypes., Conclusions: This is the first study in children affected by SMA2 reporting data on sleep microstructure and their changes after LTNPPV. We found persisting, small but important changes in sleep microstructure during LTNPPV in these children, suggesting that this treatment only partially improves their arousability., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Objective: There have been few published reports on the sleep patterns of patients with spinal muscular atrophy (SMA) type 2, and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of children with SMA type 2, compared with age-matched and sex-matched controls., Methods: Seventeen SMA type 2 children (seven males, mean age 4.2 years) and 12 controls (five males, mean age 5.0 years) underwent full polysomnography to evaluate sleep architecture and microstructure by means of the Cyclic Alternating Pattern (CAP)., Results: Compared with the control children, the SMA type 2 patients showed a mild increase in the apnea/hypopnea index. Sleep was characterized by a decrease in the number of sleep stage shifts per hour, of percentage of stage N3, of stage R, and of sleep efficiency. On the contrary, significant increases of awakenings per hour, wake after sleep onset, and percentage of stage N1 were found. The 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., Conclusions: The results indicated an abnormality of sleep macrostructure and microstructure in SMA type 2 patients, which was characterized by a reduction of A2 and A3 subtypes (low and high power arousals), supporting the concept of a decreased arousability in SMA type 2 patients. Similar to a previous report on SMA type 1, the findings might be additional proof of central nervous system involvement, although these alterations are less severe than those observed in infants with SMA type 1., (Copyright © 2016 Elsevier B.V. All rights reserved.)

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., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Objectives: Only few studies are available in the literature on sleep in children with Prader-Willi syndrome (PWS) and one single study analyzed the cyclic alternating pattern (CAP) in young adults with PWS, showing that patients with a higher proportion of A1 subtypes presented less severe GH deficiency. The aims of our study were to evaluate CAP in children with PWS compared to an age-matched control group and to evaluate the differences between PWS children with (GH+) and without (GH-) GH therapy., Methods: Laboratory polysomnographic sleep recordings were obtained from 30 children with PWS (17 GH- and 13 GH+ patients) and 15 age-matched normal controls., Results: Compared to controls, PWS children had a reduction of sleep efficiency, of sleep stage 2 and of REM sleep. GH- PWS patients showed a global decrease in total CAP rate during S1 and S2 but not in SWS. In GH+ PWS patients, SWS CAP rate and A1 index were increased vs. GH- children., Discussion: The decrease in total CAP rate and all A subtypes might suggest the presence of a decreased NREM sleep instability in our PWS children and can be considered to be in agreement with the reported generalized hypoarousal state of PWS subjects. GH therapy is likely to increase CAP rate and A1 index during SWS in PWS patients.