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Obstructing Sleep Apnea in Children with Genetic Disorders-A Special Need for Early Multidisciplinary Diagnosis and

Mihaela Oros1,2, Lucica Baranga2, Vasilica Plaiasu3

  • 1Faculty of Medicine, Titu Maiorescu University, 040441 Bucharest, Romania.

Journal of Clinical Medicine
|June 2, 2021
PubMed

Insights

Children with genetic disorders often have obstructive sleep apnea syndrome (OSAS). Early diagnosis via polysomnography (PSG) and multidisciplinary care are crucial for effective management and improved quality of life.

Area of Science:

  • Pediatric Pulmonology
  • Clinical Genetics
  • Sleep Medicine

Background:

  • Genetic disorders frequently cause anatomical and physiological issues predisposing children to obstructive sleep apnea syndrome (OSAS).
  • Children with genetic conditions require prioritized polysomnography (PSG) for accurate diagnosis before treatment.
  • This study investigated OSAS prevalence and severity in children with genetic disorders, emphasizing the need for tailored, multidisciplinary care.

Purpose of the Study:

  • To determine the prevalence and severity of OSAS in children with genetic disorders.
  • To highlight the necessity of a multidisciplinary approach for diagnosing and managing sleep-disordered breathing in this population.
  • To underscore the importance of early detection and intervention for improving patient outcomes.

Main Methods:

  • Retrospective analysis of 108 children with genetic impairments and sleep disturbances referred for PSG.
  • Collection of respiratory parameters including apnea-hypopnea index (AHI), oxygen saturation (SatO2) nadir, and end-tidal/transcutaneous CO2.
  • Review of subsequent management strategies, including non-invasive ventilation (NIV) and otorhinolaryngological (ENT) surgery.

Main Results:

  • OSAS was identified in 80.5% (87/108) of the studied children.
  • Treatment involved CPAP (3 patients), other forms of NIV (32 patients), or ENT surgery (15 patients).
  • Post-treatment PSG confirmed the efficacy of the implemented therapeutic interventions.

Conclusions:

  • Diagnosing and managing upper airway obstruction in children with complex genetic diseases necessitates a multidisciplinary team.
  • Early identification and treatment of sleep-disordered breathing are paramount for enhancing the quality of life in children with genetic disorders.
  • Specialized diagnostic and management protocols are essential for this vulnerable pediatric population.

Keywords:
childrengenetic disordersnon-invasive ventilation (NIV)obstructive sleep apnea (OSA)polysomnography (PSG)

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