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Polysomnographic findings and brain maturation in infants with Prader-Willi syndrome: a retrospective observational
Trees Kempen1, Mieke Boon2, Anneleen Dereymaeker3
1Department of Development and Regeneration, University Hospitals Leuven, KU Leuven, Herestraat 49, Leuven, 3000, Belgium. trees.kempen@uzleuven.be.
Insights
Obstructive sleep apnea (OSA) is common in infants with Prader-Willi syndrome (PWS), often due to hypotonia. Brain immaturity on EEG did not correlate with central apnea severity in this infant PWS cohort.
Area of Science:
- Pediatric Neurology
- Sleep Medicine
- Genetics
Background:
- Prader-Willi syndrome (PWS) involves hypothalamic dysfunction, leading to central sleep apnea (CSA), hypoventilation, and hypersomnolence.
- Obstructive sleep apnea (OSA) is prevalent in older PWS children due to obesity and adenotonsillar hypertrophy.
- Limited data exists on sleep-disordered breathing in PWS infants.
Purpose of the Study:
- To evaluate sleep-disordered breathing (SDB) in infants under 12 months with PWS.
- To investigate the association between SDB and brain maturation using electroencephalography (EEG) findings.
Main Methods:
- Retrospective analysis of polysomnography (PSG) and EEG data from seven growth hormone-naive PWS infants.
- Comparison of PSG/EEG data between neonatal and older infants, and between age-appropriate and dysmature EEGs.
Main Results:
- Obstructive sleep apnea (OSA) was present in 66.6% of infants, with a median obstructive apnea-hypopnea index of 3.94/h.
- No infants met criteria for central sleep apnea (CSA); median central apnea index was 1.42/h.
- Delayed brain maturation on EEG was observed in three infants, but showed no correlation with apnea indices.
Conclusions:
- OSA is a significant finding in PWS infants, primarily linked to hypotonia and oropharyngeal narrowing.
- EEG-assessed brain immaturity did not correlate with central apnea severity.
- Baseline PSG is recommended for PWS infants due to respiratory vulnerability; further research is needed.
Purpose:
Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hypothalamic dysfunction and brainstem immaturity, contributing to central sleep apnea (CSA), hypoventilation and hypersomnolence. Obstructive sleep apnea (OSA) is more common in older children with PWS due to adenotonsillar hypertrophy and obesity. Data on polysomnographic findings in infants remain scarce. This study aimed to assess sleep-disordered breathing and its possible association with brain maturation, based on electroencephalography (EEG) findings, in infants (< 12 months) with PWS.
Methods:
We conducted a retrospective analysis of polysomnography (PSG) and EEG data, from seven growth hormone-naive infants with PWS. Statistical comparisons were made between neonatal and older infants, and between those with age-appropriate versus dysmature EEGs.
Results:
One infant died suddenly and unexpectedly before PSG could be completed. The median central apnea index was 1.42/h; none of the infants met criteria for CSA. OSA was present in 66.6% of PSGs, with a median obstructive apnea-hypopnea index of 3.94/h. All infants had low arousal indices. Delayed brain maturation was observed in three infants on EEG, with no correlation found between EEG maturity and apnea indices.
Conclusion:
OSA also presents in infants with PWS and is mainly caused by hypotonia and a narrow oropharynx. No correlation was found between EEG-based brain immaturity and central apnea severity. Given the respiratory vulnerability of these infants, a baseline PSG is strongly recommended. Larger studies are needed to confirm these findings and to clarify their clinical implications, including the potential role of EEG in early risk stratification.
