Original articleSleep-disordered breathing in children with congenital muscular dystrophies
Introduction
Congenital muscular dystrophies (CMD) are inherited diseases of muscle, presenting with muscle weakness and hypotonia at birth or within the first few months of life. Patients suffering from CMD are known to be at risk for sleep disordered breathing including central apneas/hypopneas, awakenings, as well as poor quality of sleep and epileptic seizures.1, 2, 3, 4 Symptoms of sleep disordered breathing differ in different forms of CMD and depend on age. Sleep disordered breathing in CMD are rarely obvious in clinical examination. More specifically, there is no correlation between clinical symptoms and vital capacity or nocturnal gas exchange, respectively.5 Therefore, many authors argue for a systematic screening of sleep disorders and nocturnal breathing events (NBE) by polysomnography in order to detect nocturnal hypoventilations as soon as possible.6, 7, 8 In a previous study we demonstrated that there is a clear evidence of respiratory complications in various forms of CMD, with a severe respiratory prognosis if they are not adequately treated.9 CMD are now better characterized at the molecular level10, 11 and the respiratory phenotypes of each specific subgroup are becoming clearer.12 However, sleep studies with specific assessment of sleep-disordered breathing in a homogeneous group of patients with CMD are currently lacking. Central apneas without respiratory restrictive failure have been described in rigid spine CMD suggesting the usefulness of an earlier polysomnography in such cases.11 The aim of this prospective study was to investigate the prevalence and characteristics of sleep-disordered breathing in a group of children with various types of well characterized CMD, in order to determine the potential usefulness, of sleep studies in the routine management of these patients.
Section snippets
Subjects
Twenty children (12 girls and 8 boys), aged from 4 to 17 years (mean: 11.15 years), were prospectively studied. The diagnosis of CMD was based on clinical, electrophysiological, neuro-radiological, genetic and muscle biopsy criteria. Various types of CMD were represented: seven patients were type 1A (MDC1A) with merosin deficiency confirmed by genetic or immuno-histochemical and neuroimaging studies, two patients were type 1C (MDC1C) with mutation in the FKRP gene, two patients had Ullrich
Results
In our results, we considered first of all sleep architecture, then the respiratory events during sleep and the existence of NPA.
Discussion
In the present work we have studied sleep disordered breathing in a population of 20 children suffering from different forms of CMD. Only 4 out of the 11 children with NBE were hypercapnic, suggesting that diurnal gas exchange is not sufficient to predict NBE and nocturnal de-saturation. We did not detect daytime sleepiness in our children. We did however detect frequent arousals with decreased REM duration. These arousals that are often associated with hypopneas, may be in relation with
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