Sleep respiratory profiles across genetic subtypes of prader-willi syndrome: an exploratory polysomnographic study
Abstract
Prader-Willi Syndrome (PWS) is a rare genetic disorder defined by three different types of genetic mutation: deletion (PWS DEL ), maternal uniparental disomy (PWS UPD ), and imprinting center defects (PWS IMP ). Sleep-related disorders have been described in children with PWS; however, the role of respiratory measures during sleep in these patients remains unclear, particularly concerning specific genetic mutations. This study aimed to evaluate the sleep respiratory profiles in different PWS genetic subtypes. We conducted an observational cross-sectional study from January 2014 to July 2021. Data were collected from the same research university center. Patients with confirmed PWS genetic diagnosis undertook an overnight Type 1 polysomnography. Polysomnography from 53 patients (2 - 22 years old) were evaluated. Genetic groups were: 19 PWS UPD , 6 PWS IMP , and 28 PWS DEL (56.6% female). The mean sample age was 9.96±5.1 years, BMI was 28.98±11.3 kg/m², and for 30/53 patients the mean age at diagnosis was 2.49±3 years. In the sample, 33/53 were in use of rhGH at the time of the PSG. Time with oxygen saturation below 90% (T<90%) differed across genetic subgroups (p=0.02), with the PWS DEL group showing longer hypoxemia duration compared to PWS UPD . Total sleep time was shorter and N2 sleep proportion higher in specific subgroups. Post-hoc exploratory analyses suggested age- and obesity-related patterns within the PWS DEL group; however, these should be interpreted with caution given small subsample sizes. Pairwise post-hoc testing localized this difference to PWS DEL versus PWS UPD . These preliminary findings suggest genotype-specific sleep respiratory profiles in PWS that merit investigation in larger, prospective cohorts.
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BibTeX
@article{soster2026sleep,
title = {{Sleep respiratory profiles across genetic subtypes of prader-willi syndrome: an exploratory polysomnographic study}},
author = {L A Soster and T.L.O Queiroga and M.C Lopes and C Passone and C Bueno and R.R Franco and D Damiani and Karen Spruyt},
journal = {Sleep Epidemiology},
year = {2026},
month = oct,
doi = {10.1016/j.sleepe.2026.100161},
url = {https://hal.science/hal-05791072v1},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Sleep respiratory profiles across genetic subtypes of prader-willi syndrome: an exploratory polysomnographic study
AU - L A Soster
AU - T.L.O Queiroga
AU - M.C Lopes
AU - C Passone
AU - C Bueno
AU - R.R Franco
AU - D Damiani
AU - Karen Spruyt
PY - 2026
DA - 2026/10/10
JO - Sleep Epidemiology
DO - 10.1016/j.sleepe.2026.100161
UR - https://hal.science/hal-05791072v1
AB - Prader-Willi Syndrome (PWS) is a rare genetic disorder defined by three different types of genetic mutation: deletion (PWS DEL ), maternal uniparental disomy (PWS UPD ), and imprinting center defects (PWS IMP ). Sleep-related disorders have been described in children with PWS; however, the role of respiratory measures during sleep in these patients remains unclear, particularly concerning specific genetic mutations. This study aimed to evaluate the sleep respiratory profiles in different PWS genetic subtypes. We conducted an observational cross-sectional study from January 2014 to July 2021. Data were collected from the same research university center. Patients with confirmed PWS genetic diagnosis undertook an overnight Type 1 polysomnography. Polysomnography from 53 patients (2 - 22 years old) were evaluated. Genetic groups were: 19 PWS UPD , 6 PWS IMP , and 28 PWS DEL (56.6% female). The mean sample age was 9.96±5.1 years, BMI was 28.98±11.3 kg/m², and for 30/53 patients the mean age at diagnosis was 2.49±3 years. In the sample, 33/53 were in use of rhGH at the time of the PSG. Time with oxygen saturation below 90% (T<90%) differed across genetic subgroups (p=0.02), with the PWS DEL group showing longer hypoxemia duration compared to PWS UPD . Total sleep time was shorter and N2 sleep proportion higher in specific subgroups. Post-hoc exploratory analyses suggested age- and obesity-related patterns within the PWS DEL group; however, these should be interpreted with caution given small subsample sizes. Pairwise post-hoc testing localized this difference to PWS DEL versus PWS UPD . These preliminary findings suggest genotype-specific sleep respiratory profiles in PWS that merit investigation in larger, prospective cohorts.
SN - 2667-3436
ER -