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Evaluation of polysomnography findings in children with genetic skeletal disorders
Halime Nayır Büyükşahin1, Nagehan Emiralioglu1, Pelin Özlem Simşek Kiper2
1Division of Pulmonology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Insights
Children with genetic skeletal disorders frequently experience sleep apnea, primarily obstructive sleep apnea (OSA). Polysomnography is crucial for diagnosis, and positive airway pressure therapy effectively treats this condition.
Area of Science:
- Pediatric Pulmonology
- Sleep Medicine
- Genetics
Background:
- Genetic skeletal disorders can lead to complex health issues, including sleep-disordered breathing.
- Polysomnography is the established diagnostic standard for sleep apnea in children.
Purpose of the Study:
- To review polysomnography findings in children with genetic skeletal disorders.
- To assess the severity of sleep apnea in this population.
- To identify clinical predictors of sleep-disordered breathing.
Main Methods:
- Retrospective collection of medical records for patients undergoing polysomnography over five years.
- Inclusion of 27 children with various genetic skeletal disorders.
- Analysis of polysomnography results, including apnea-hypopnea index (AHI) and oxygen saturation.
Main Results:
- 70.3% of patients had obstructive sleep apnea (OSA), with varying severity.
- Central apneas and nocturnal hypoventilation were also observed.
- Non-ambulatory status correlated significantly with total AHI and OSA severity.
Conclusions:
- The majority of children with skeletal dysplasia exhibit sleep apnea syndrome, predominantly OSA.
- Polysomnography screening is vital for early detection of sleep disorders in these patients.
- Positive airway pressure therapy is an effective treatment for sleep-disordered breathing in this cohort.
Abstract:
Children with genetic skeletal disorders have variable conditions that can lead to sleep-disordered breathing, and polysomnography is the gold standard for diagnosing this condition. We aimed to review polysomnography findings, to assess the severity of sleep apnea, and to investigate the clinical variables predictive of sleep-disordered breathing in these patients. We retrospectively collected the medical records of patients with genetic skeletal disorders who underwent polysomnography for 5 years. Twenty-seven children with various genetic skeletal disorders, including achondroplasia (14), Crouzon syndrome (3), acromesomelic dysplasia Maroteaux type (3), Apert syndrome (2), osteopetrosis (1), Jeune dysplasia (1), Desbuquois dysplasia (1), acrodysostosis (1), and spondyloepiphyseal dysplasia (1) were enrolled. The median age at the first polysomnography was 58 (1st-3rd quartile: 31-113) months. The overall sleep-disordered breathing results were: 19 (70.3%) had obstructive sleep apneas (OSA) (4 mild, 6 moderate, 9 severe), 2 (7.4%) had central apneas, 4 (14.8%) had nocturnal hypoventilation. There was a significant correlation between non-ambulatory status with both total AHI and OSA (p < 0.001, rho: -0.66/p = 0.04, rho: 0.38, respectively). Nine patients received positive airway pressure titration, and the oAHI values of all returned to the normal range. These patients were started with positive airway pressure treatment. Our cohort showed that the majority of the patients with skeletal dysplasia had sleep apnea syndrome characterised mainly by OSA, highlighting the importance of polysomnography screening for sleep disorders. Positive airway pressure therapy represents an effective treatment for sleep-disordered breathing in those patients.
