Polysomnographic findings and brain maturation in infants with Prader-Willi syndrome: a retrospective observational study.

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.