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Severe obstructive sleep disorders in Prader-Willi syndrome patients in southern Italy

Angelo Canora1, Adriana Franzese2, Enza Mozzillo2

  • 1Section of Respiratory Disease, Department of Clinical Medicine and Surgery, Monaldi Hospital, University "Federico II" Naples, Via Leonardo Bianchi, 80131, Naples, Italy. a.canora@hotmail.it.

European Journal of Pediatrics
|January 11, 2018
PubMed

Insights

Obstructive sleep apnoea (OSA) is highly prevalent in Prader-Willi Syndrome (PWS) patients, affecting 93%. This severe condition in PWS children warrants further investigation for optimal clinical management.

Area of Science:

  • Pediatric Pulmonology
  • Sleep Medicine
  • Genetics

Background:

  • Sleep-related disordered breathing (SDB) is common in Prader-Willi Syndrome (PWS).
  • Limited data exists on SDB patterns and management in PWS patients.
  • Understanding SDB in PWS is crucial for improving patient care.

Purpose of the Study:

  • To analyze the features of SDB in pediatric patients with PWS.
  • To identify the prevalence and characteristics of obstructive sleep apnoea (OSA) in this population.
  • To investigate potential correlations between SDB severity, age, and obesity.

Main Methods:

  • Conducted polygraphic registration (PG) during 12-hour nocturnal sleep in 14 PWS patients (age range: 8 months - 17 years).
  • Recorded obstructive and central apnoea indices, oxygen saturation (SpO2), and demographic/clinical data.
  • Analyzed body mass index (BMI) and BMI z-scores.

Main Results:

  • Obstructive sleep apnoea (OSA) was diagnosed in 13 out of 14 patients (92.9%).
  • Mean obstructive apnoea-hypopnea index (OAHI) was 7.6 ± 4.2 events/h; mean central apnoea index (CAI) was 0.7 ± 1.04 events/h.
  • No significant correlation was found between OAHI and BMI or BMI z-score.

Conclusions:

  • OSA is the predominant and severe sleep-related disorder in PWS patients, irrespective of age or obesity.
  • Findings suggest OSA in PWS may be more severe than previously reported.
  • Further research with larger cohorts is needed to elucidate underlying mechanisms and guide clinical management.

Keywords:
Obstructive sleep apnoeaPrader-Willi syndromeSleep

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