Sleep architecture in infants with spinal muscular atrophy type 1

Verrillo, Elisabetta; Bruni, Oliviero; Pavone, Martino; Ferri, Raffaele; Caldarelli, Valeria; Novelli, Luana; Testa, Maria Beatrice Chiarini; Cutrera, Renato

doi:10.1016/j.sleep.2014.05.029

Cited by 27 publications

(12 citation statements)

References 34 publications

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“…f ) Cerebral palsy and mitochondrial disorders may be accompanied by OSAS [54,55]. Infants with spinal muscular atrophy type 1 and 2 have increased AHI [56,57]. g) Infants with achondroplasia have higher AHI than control infants and midface hypoplasia contributes to obstructive events [58].…”

Section: Literature Reviewmentioning

confidence: 99%

“…Polysomnography and nocturnal oximetry have been used in patients with Pierre Robin sequence to direct treatment interventions [47,52,91]. f ) Spinal muscular atrophy, cerebral palsy and mitochondrial disorders may be related to an elevated AHI [54][55][56][57]. g) Overall, infants with achondroplasia have increased AHI, but OSAS severity is not predicted by the size of the foramen magnum [58].…”

Section: Literature Reviewmentioning

confidence: 99%

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ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children

et al. 2017

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The present statement was produced by a European Respiratory Society Task Force to summarise the evidence and current practice on the diagnosis and management of obstructive sleep disordered breathing (SDB) in children aged 1-23 months. A systematic literature search was completed and 159 articles were summarised to answer clinically relevant questions. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are identified. Morbidity (pulmonary hypertension, growth delay, behavioural problems) and coexisting conditions (feeding difficulties, recurrent otitis media) may be present. SDB severity is measured objectively, preferably by polysomnography, or alternatively polygraphy or nocturnal oximetry. Children with apparent upper airway obstruction during wakefulness, those with abnormal sleep study in combination with SDB symptoms ( snoring) and/or conditions predisposing to SDB ( mandibular hypoplasia) as well as children with SDB and complex conditions ( Down syndrome, Prader-Willi syndrome) will benefit from treatment. Adenotonsillectomy and continuous positive airway pressure are the most frequently used treatment measures along with interventions targeting specific conditions ( supraglottoplasty for laryngomalacia or nasopharyngeal airway for mandibular hypoplasia). Hence, obstructive SDB in children aged 1-23 months is a multifactorial disorder that requires objective assessment and treatment of all underlying abnormalities that contribute to upper airway obstruction during sleep.

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Section: Literature Reviewmentioning

confidence: 99%

Section: Literature Reviewmentioning

confidence: 99%

ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children

et al. 2017

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“…There is evidence that anticipatory respiratory management including airway clearance with assisted cough, non invasive or invasive ventilatory support and adequate nutritional care are associated with longer survival in Spinal Muscular Atrophy type 1 (SMA1) [16][17][18][19][20][21][22][23][24][25].…”

Section: Smamentioning

confidence: 99%

1st Italian SMA Family Association Consensus Meeting:

Sansone

Racca

Ottonello³

et al. 2015

Neuromuscular Disorders

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“…Buna ek olarak, REM uyku evre süresinde artış da bildirilmiştir (10). SMA tip 1 ve tip 2 hastalarında da UE'de azalma ile birlikte, yüzeyel uyku evre sürelerinde (N1 ve N2) artış, ve REM uyku evre sürelerinde ise azalma bildirilmiştir (11)(12)(13)(14)(15). Bizim çalışmamızda ise, DMD tanısı alan hastalarda uykunun makro yapısı incelendiğinde, aynı yaş grubundan oluşan sağlıklı kontrol grubuna kıyasla, REML uzun ve toplam REM uyku evre süresinin kısa olduğu izlendi; ancak bu fark istatistiksel anlamlı değere ulaşmadı.…”

Section: Sonuçunclassified

Evaluation of Sleep Structure and Sleep-related Disorders in Pediatric Patients Diagnosed with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy

Arkalı¹,

Şenel²,

Kılıç³

et al. 2020

jtsm

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Objective: Duchenne muscular dystrophy (DMD) is a hereditary neuromuscular disorder in which respiratory problems arise secondary to the involvement of skeletal muscles. Spinal muscular atrophy (SMA) is a disorder group characterized by the involvement of anterior horn cells. The most common respiratory problems in DMD and SMA patients are pharyngeal muscle weakness in sleep and sleep-related respiratory disorders. In this study, we evaluated sleep structure and sleep-related disorders in pediatric age group diagnosed with DMD and SMA. Materials and Methods: In pediatric patients who were diagnosed to have DMD or SMA upon genetic analysis between 2014 and 2018 were performed polysomnographic investigations in our Sleep and Disorder Units. Results: Age (p=0.074), gender (p=0.065) or Body Mass index (p=0.473) were compatible between the three groups, including 13 DMD patients, seven SMA patients, and six healthy control children. In DMD patients, although rapid eye movement (REM) sleep phase latency was longer and REM sleep phase duration was shorter compared to both healthy controls and SMA patients; it was not statistically significant. In SMA patients, total sleep time and deep non-REM (NREM) sleep duration were shorter than both healthy controls and DMD patients; though this difference was not statistically significant. Pediatric Obstructive Sleep Apnea syndrome (OSAS) was detected in three DMD patients (23.1%) and six SMA patients (85.7%), no pediatric OSAS was detected in the control group (p=0.010). Mean Apnea-hypopnea index was 2.15+4.60/ hr in DMD patients, 7.43+6.19/hr in SMA patients and 0.33+0.52/hr in control group (p=0.018). Conclusion: In our study, it was found that sleep structure is disturbed and pediatric OSAS is more commonly encountered in DMD and SMA patient groups, which two disorders causing muscle and respiratory problems due to muscular and neurogenic involvement.

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Sleep architecture in infants with spinal muscular atrophy type 1

Cited by 27 publications

References 34 publications

ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children

ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children

1st Italian SMA Family Association Consensus Meeting:

Evaluation of Sleep Structure and Sleep-related Disorders in Pediatric Patients Diagnosed with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy

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