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Familial Sleep Disorders in Unknown Genetic Syndrome

Mara Lelii1, Elena Baggi2, Laura Senatore1

  • 1Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

Journal of Pediatric Genetics
|April 29, 2020
PubMed

Insights

Sleep-disordered breathing (SDB) is common in children with genetic disorders. Early diagnosis and treatment of SDB, including central hypoventilation, improve quality of life and prevent complications.

Area of Science:

  • Pediatric Pulmonology
  • Clinical Genetics
  • Sleep Medicine

Background:

  • Sleep-disordered breathing (SDB) is prevalent in pediatric populations, particularly those with congenital or genetic conditions.
  • Key SDB manifestations include obstructive sleep apnea, disrupted REM sleep, and central hypoventilation.

Observation:

  • A familial case of SDB with central hypoventilation was identified.
  • The younger sister's diagnosis prompted a review of the older sister's health status.

Findings:

  • The older sister was diagnosed with the same condition, albeit at a later stage.
  • This highlights the importance of considering familial patterns in SDB diagnosis.

Implications:

  • Timely diagnosis and management of SDB in children with genetic disorders enhance quality of life.
  • Intervention reduces risks of cognitive impairment and cardiopulmonary complications.
  • Recognizing familial clustering can expedite diagnosis in affected relatives.

Keywords:
genetic syndromehypoventilationsleep-disordered breathing

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