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Published on: December 6, 2016
Longitudinal evaluation of sleep disordered breathing in infants with Prader-Willi syndrome
Abdullah Khayat1,2, Indra Narang1,2, Saadoun Bin-Hasan1,2
1University of Toronto, Toronto, Ontario, Canada.
Insights
Sleep disordered breathing (SDB) in infants with Prader-Willi syndrome (PWS) often improves with age. Ongoing monitoring is crucial as some infants may have persistent central sleep apnoea (CSA) or develop obstructive sleep apnoea (OSA).
Area of Science:
- Pediatrics
- Genetics
- Sleep Medicine
Background:
- Prader-Willi syndrome (PWS) is a complex genetic disorder.
- Infants with PWS are at increased risk for sleep disordered breathing (SDB).
- Understanding the natural history of SDB in this population is crucial for management.
Purpose of the Study:
- To evaluate the course of sleep disordered breathing (SDB) in infants with Prader-Willi syndrome (PWS).
- To assess the changes in central sleep apnoea (CSA) and obstructive sleep apnoea (OSA) over time.
- To determine the need for ongoing surveillance.
Main Methods:
- Retrospective longitudinal observational study.
- Involved 28 infants with PWS undergoing baseline and follow-up polysomnography (PSG).
- Assessed central apnoea index (CAI) and obstructive apnoea-hypopnoea index (OAI) over approximately 2 years.
Main Results:
- 53% of infants with PWS had significant central sleep apnoea (CSA) at baseline.
- CSA generally improved significantly by follow-up (median CAI decreased from 6.6 to 2.3 events/hour).
- Some infants developed obstructive sleep apnoea (OSA), with two cases requiring adenotonsillectomy.
Conclusions:
- Central sleep apnoea (CSA) is common in infants with Prader-Willi syndrome (PWS) but typically resolves with age.
- Continued polysomnography (PSG) surveillance is recommended due to the risk of persistent CSA and developing obstructive sleep apnoea (OSA).
- Early identification and management of SDB are vital for improving outcomes in infants with PWS.
Objective:
To evaluate the course of sleep disordered breathing (SDB) in infants with Prader-Willi syndrome (PWS).
Design:
Retrospective longitudinal observational study.
Setting:
Sleep laboratory at The Hospital for Sick Children, Toronto, Canada.
Patients:
Infants with PWS.
Main Outcome Measures:
The natural history of SDB in infants with PWS within 2 years from baseline assessment.
Results:
We identified 28 (12 male) infants with PWS who had a baseline polysomnography (PSG) at a median age (interquartile (IQR)) of 0.9 (0.5, 1.1) years. The median central apnoea index (CAI) at baseline was 6.6 events/hour (IQR 2.6, 12.1). Of these, 15/28 (53%) infants with PWS were diagnosed with significant central sleep apnoea (CSA) (CAI≥5 events/hour). Median age (IQR) at follow-up PSG was 2.1 (1.5, 2.6) years. The median CAI improved from 6.6 to 2.3 events/hour (p<0.0001). Only four infants with PWS had persistent CSA at the time of the follow-up PSG. Furthermore, three infants with PWS were diagnosed with mild-to-moderate obstructive sleep apnoea (OSA) that has improved at follow-up studies whereas two patients with PWS with no evidence of OSA at baseline were diagnosed with severe OSA on the follow-up PSG requiring adenotonsillectomy. The overall median obstructive apnoea-hypopnoea index was similar between baseline and follow-up studies (0.6 and 0.8, respectively, p=0.91).
Conclusions:
CSA is prevalent in infants with PWS but usually improves with age. However, these patients continue to require ongoing PSG surveillance because some infants will have persistent CSA and others are at risk of developing OSA.
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