Original article
Sleep-disordered breathing in children with congenital muscular dystrophies

https://doi.org/10.1016/j.ejpn.2012.02.009Get rights and content

Abstract

Objective

Most types of neuromuscular diseases are known to be associated with a high risk of sleep-disordered breathing. We performed a prospective study in a well individualized group of muscular disorders, congenital muscular dystrophies (CMD), to characterize the frequency of sleep-disordered breathing and thereby to determine the potential usefulness of sleep studies in such patients.

Methods

Twenty CMD children (12 F, 8 M, aged 4–17 years) were included. Using overnight polysomnography, we determined the following parameters: sleep stages, sleep latency, sleep efficiency index, wake time duration, total sleep time (TST), apnea/hypopnea index (AHI), arterial blood oxygen saturation, and nocturnal paroxysmal EEG activity.

Results

As compared to healthy controls, we detected in our study group frequent awakenings, a decreased TST (mean 448 ± 44.4 min) and a decreased REM duration (mean 11.5 ± 3.5% of TST). Significant increase in wake time duration (28–90 min) and decrease in REM duration were observed in 12 patients. An apnea/hypopnea syndrome was detected in 13 patients (65%) with central apneas in 8, obstructive apneas in 2 and 3 mixed apneas in 3 patients. AHI was >10 in 3 cases, <10> 5 in 4 cases and were concomitant with blood oxygen de-saturation in four cases. NPA were detected in 10 patients ranging from 10 to 40% of TST.

Interpretation

Our results confirm the high incidence of sleep disordered breathing in children with CMD, and thereby, the usefulness of overnight polysomnography recordings in such patients.

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

References (31)

  • U. Mellies et al.

    Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders

    Neuromuscul Disord

    (2003)
  • M. Labanowski et al.

    Sleep and neuromuscular disease: frequency of sleep-disordered breathing in a neuromuscular disease clinic population

    Neurology

    (1996)
  • S. Meyer et al.

    Congenital muscular dystrophies: muscle-eye-brain disease

    Klin Padiatr

    (2005)
  • E. Van Lunteren et al.

    Disorders of sleep and breathing during sleep in neuromuscular disease

    Sleep Breath

    (1999)
  • M. Yoshioka et al.

    Long-term prognosis of epilepsies and related seizure disorders in Fukuyama-type congenital muscular dystrophy

    J Child Neurol

    (2005)
  • Cited by (16)

    • Central sleep apnea due to other medical disorders- not Cheyne-Stokes

      2023, Encyclopedia of Sleep and Circadian Rhythms: Volume 1-6, Second Edition
    • Neuromuscular Disorders and Sleep in Critically Ill Patients

      2015, Critical Care Clinics
      Citation Excerpt :

      Respiratory muscle atonia during REM sleep may cause nocturnal desaturation and hypoventilation. Early identification of SDB may prevent respiratory failure, so screening with polysomnography is recommended early in the course.49 Metabolic myopathies are heterogeneous conditions that have common abnormalities of muscle energy metabolism, resulting in skeletal muscle dysfunction.

    • Central Sleep Apnea

      2015, Murray and Nadel's Textbook of Respiratory Medicine: Volume 1,2, Sixth Edition
    • Central sleep apnea due to other medical disorders

      2014, Sleep Medicine Clinics
      Citation Excerpt :

      Whereas in some of these patients a degree of hypoventilation can occur during wakefulness leading to CO2 retention, others remain normocapnic, with hypoventilation only occurring during sleep when wakefulness neurocompensatory mechanisms are lost. Thus, unlike other forms of CSA that typically worsen in NREM sleep, CSA in patients with congenital muscular dystrophies may be most pronounced during REM sleep against the background of already low drive to the intercostal muscles and accessory respiratory muscles.92,95 Poor sleep quality may also perpetuate state-stability CSA in these patients.

    View all citing articles on Scopus
    View full text