Hypersomnia in the Prader Willi syndrome: Clinical-electrophysiological features and underlying factors

Raffaele Manni, Lucia Politini, Lino Nobili, Franco Ferrillo, Chiara Livieri, Edvige Veneselli, Roberta Biancheri, Miriam Martinetti, Amelia Tartara

Research output: Contribution to journalArticle

Abstract

Objective: Excessive daytime sleepiness is a common symptom in Prader Willi syndrome (PWs). Sleep disordered breathing (SDB) and narcoleptic traits such as REM sleep onsets (SOREMPs) have been reported in these subjects. We evaluated nighttime and daytime sleep patterns in patients with PWs in order to clarify the nature of their hypersomnia. Design and methods: We performed overnight continuous EEG-polysomnographic studies (with breathing monitoring included) in 14 subjects (6 M,8 F; mean age 17 years, range 8-37) affected by PWs unselected for sleep disturbances. Ten patients underwent a Multiple Sleep Latency Test (MSLT) the day following the nocturnal sleep studies. Patients assessment was completed by means of immunogenetic characterization. Results: Nocturnal polysomnographic investigation documented sleep related breathing abnormalities such as central apneas, hypopneas or hypoventilation which mainly occurred during REM sleep in 8 subjects and did not cause sleep disruption. Only 4 subjects presented an increase in the Respiratory Disorder Index (RDI) slightly above the normal limits. In 8 subjects out of 10, with and without SDB, the mean daytime sleep latency could be considered abnormal according to the Tanner staging of pubertal development. Five patients showed at least two SOREMPs at MSLT. Subjects with and without SOREMPs had, respectively, a mean age of 18.6 SD 7.9 (4 M, 1 F) and 14.5 SD 2.9 (4 F, 1 M). The paternal deletion:uniparental dysomy ratio at genotypic characterization was 4:1 and 3.5:1 in subjects with and without SOREMPs, respectively. No patient presented DR-15 nor Dq-6. Conclusions: Excessive sleepiness is a frequent disturbance in PWs. Subgroups of PW patients show hypersomnolence and SOREMPs. Sleep disordered breathing appears to have a limited role in the genesis of hypersomnia which not seems on the other hand attributable to the coexistence of narcolepsy phenotype. Hypersomnia in PW syndrome is likely to mainly be attributable to a primary hypothalamic dysfunction. The potential interacting role of other factors such as subjects age, sex and genetic pattern is suggested and deserve further investigation.

Original languageEnglish
Pages (from-to)800-805
Number of pages6
JournalClinical Neurophysiology
Volume112
Issue number5
DOIs
Publication statusPublished - 2001

Fingerprint

Disorders of Excessive Somnolence
Prader-Willi Syndrome
Sleep
Sleep Apnea Syndromes
REM Sleep
Respiration
Central Sleep Apnea
Narcolepsy
Hypoventilation
Immunogenetics
Electroencephalography
Phenotype

Keywords

  • HLA
  • Hypersomnia
  • Narcolepsy
  • Prader Willi
  • REM sleep onsets

ASJC Scopus subject areas

  • Clinical Neurology
  • Physiology (medical)
  • Radiology Nuclear Medicine and imaging
  • Neurology
  • Sensory Systems

Cite this

Hypersomnia in the Prader Willi syndrome : Clinical-electrophysiological features and underlying factors. / Manni, Raffaele; Politini, Lucia; Nobili, Lino; Ferrillo, Franco; Livieri, Chiara; Veneselli, Edvige; Biancheri, Roberta; Martinetti, Miriam; Tartara, Amelia.

In: Clinical Neurophysiology, Vol. 112, No. 5, 2001, p. 800-805.

Research output: Contribution to journalArticle

Manni, R, Politini, L, Nobili, L, Ferrillo, F, Livieri, C, Veneselli, E, Biancheri, R, Martinetti, M & Tartara, A 2001, 'Hypersomnia in the Prader Willi syndrome: Clinical-electrophysiological features and underlying factors', Clinical Neurophysiology, vol. 112, no. 5, pp. 800-805. https://doi.org/10.1016/S1388-2457(01)00483-7
Manni, Raffaele ; Politini, Lucia ; Nobili, Lino ; Ferrillo, Franco ; Livieri, Chiara ; Veneselli, Edvige ; Biancheri, Roberta ; Martinetti, Miriam ; Tartara, Amelia. / Hypersomnia in the Prader Willi syndrome : Clinical-electrophysiological features and underlying factors. In: Clinical Neurophysiology. 2001 ; Vol. 112, No. 5. pp. 800-805.
@article{0476efa8b55b4e6b9d216b4829510e6f,
title = "Hypersomnia in the Prader Willi syndrome: Clinical-electrophysiological features and underlying factors",
abstract = "Objective: Excessive daytime sleepiness is a common symptom in Prader Willi syndrome (PWs). Sleep disordered breathing (SDB) and narcoleptic traits such as REM sleep onsets (SOREMPs) have been reported in these subjects. We evaluated nighttime and daytime sleep patterns in patients with PWs in order to clarify the nature of their hypersomnia. Design and methods: We performed overnight continuous EEG-polysomnographic studies (with breathing monitoring included) in 14 subjects (6 M,8 F; mean age 17 years, range 8-37) affected by PWs unselected for sleep disturbances. Ten patients underwent a Multiple Sleep Latency Test (MSLT) the day following the nocturnal sleep studies. Patients assessment was completed by means of immunogenetic characterization. Results: Nocturnal polysomnographic investigation documented sleep related breathing abnormalities such as central apneas, hypopneas or hypoventilation which mainly occurred during REM sleep in 8 subjects and did not cause sleep disruption. Only 4 subjects presented an increase in the Respiratory Disorder Index (RDI) slightly above the normal limits. In 8 subjects out of 10, with and without SDB, the mean daytime sleep latency could be considered abnormal according to the Tanner staging of pubertal development. Five patients showed at least two SOREMPs at MSLT. Subjects with and without SOREMPs had, respectively, a mean age of 18.6 SD 7.9 (4 M, 1 F) and 14.5 SD 2.9 (4 F, 1 M). The paternal deletion:uniparental dysomy ratio at genotypic characterization was 4:1 and 3.5:1 in subjects with and without SOREMPs, respectively. No patient presented DR-15 nor Dq-6. Conclusions: Excessive sleepiness is a frequent disturbance in PWs. Subgroups of PW patients show hypersomnolence and SOREMPs. Sleep disordered breathing appears to have a limited role in the genesis of hypersomnia which not seems on the other hand attributable to the coexistence of narcolepsy phenotype. Hypersomnia in PW syndrome is likely to mainly be attributable to a primary hypothalamic dysfunction. The potential interacting role of other factors such as subjects age, sex and genetic pattern is suggested and deserve further investigation.",
keywords = "HLA, Hypersomnia, Narcolepsy, Prader Willi, REM sleep onsets",
author = "Raffaele Manni and Lucia Politini and Lino Nobili and Franco Ferrillo and Chiara Livieri and Edvige Veneselli and Roberta Biancheri and Miriam Martinetti and Amelia Tartara",
year = "2001",
doi = "10.1016/S1388-2457(01)00483-7",
language = "English",
volume = "112",
pages = "800--805",
journal = "Clinical Neurophysiology",
issn = "1388-2457",
publisher = "Elsevier Ireland Ltd",
number = "5",

}

TY - JOUR

T1 - Hypersomnia in the Prader Willi syndrome

T2 - Clinical-electrophysiological features and underlying factors

AU - Manni, Raffaele

AU - Politini, Lucia

AU - Nobili, Lino

AU - Ferrillo, Franco

AU - Livieri, Chiara

AU - Veneselli, Edvige

AU - Biancheri, Roberta

AU - Martinetti, Miriam

AU - Tartara, Amelia

PY - 2001

Y1 - 2001

N2 - Objective: Excessive daytime sleepiness is a common symptom in Prader Willi syndrome (PWs). Sleep disordered breathing (SDB) and narcoleptic traits such as REM sleep onsets (SOREMPs) have been reported in these subjects. We evaluated nighttime and daytime sleep patterns in patients with PWs in order to clarify the nature of their hypersomnia. Design and methods: We performed overnight continuous EEG-polysomnographic studies (with breathing monitoring included) in 14 subjects (6 M,8 F; mean age 17 years, range 8-37) affected by PWs unselected for sleep disturbances. Ten patients underwent a Multiple Sleep Latency Test (MSLT) the day following the nocturnal sleep studies. Patients assessment was completed by means of immunogenetic characterization. Results: Nocturnal polysomnographic investigation documented sleep related breathing abnormalities such as central apneas, hypopneas or hypoventilation which mainly occurred during REM sleep in 8 subjects and did not cause sleep disruption. Only 4 subjects presented an increase in the Respiratory Disorder Index (RDI) slightly above the normal limits. In 8 subjects out of 10, with and without SDB, the mean daytime sleep latency could be considered abnormal according to the Tanner staging of pubertal development. Five patients showed at least two SOREMPs at MSLT. Subjects with and without SOREMPs had, respectively, a mean age of 18.6 SD 7.9 (4 M, 1 F) and 14.5 SD 2.9 (4 F, 1 M). The paternal deletion:uniparental dysomy ratio at genotypic characterization was 4:1 and 3.5:1 in subjects with and without SOREMPs, respectively. No patient presented DR-15 nor Dq-6. Conclusions: Excessive sleepiness is a frequent disturbance in PWs. Subgroups of PW patients show hypersomnolence and SOREMPs. Sleep disordered breathing appears to have a limited role in the genesis of hypersomnia which not seems on the other hand attributable to the coexistence of narcolepsy phenotype. Hypersomnia in PW syndrome is likely to mainly be attributable to a primary hypothalamic dysfunction. The potential interacting role of other factors such as subjects age, sex and genetic pattern is suggested and deserve further investigation.

AB - Objective: Excessive daytime sleepiness is a common symptom in Prader Willi syndrome (PWs). Sleep disordered breathing (SDB) and narcoleptic traits such as REM sleep onsets (SOREMPs) have been reported in these subjects. We evaluated nighttime and daytime sleep patterns in patients with PWs in order to clarify the nature of their hypersomnia. Design and methods: We performed overnight continuous EEG-polysomnographic studies (with breathing monitoring included) in 14 subjects (6 M,8 F; mean age 17 years, range 8-37) affected by PWs unselected for sleep disturbances. Ten patients underwent a Multiple Sleep Latency Test (MSLT) the day following the nocturnal sleep studies. Patients assessment was completed by means of immunogenetic characterization. Results: Nocturnal polysomnographic investigation documented sleep related breathing abnormalities such as central apneas, hypopneas or hypoventilation which mainly occurred during REM sleep in 8 subjects and did not cause sleep disruption. Only 4 subjects presented an increase in the Respiratory Disorder Index (RDI) slightly above the normal limits. In 8 subjects out of 10, with and without SDB, the mean daytime sleep latency could be considered abnormal according to the Tanner staging of pubertal development. Five patients showed at least two SOREMPs at MSLT. Subjects with and without SOREMPs had, respectively, a mean age of 18.6 SD 7.9 (4 M, 1 F) and 14.5 SD 2.9 (4 F, 1 M). The paternal deletion:uniparental dysomy ratio at genotypic characterization was 4:1 and 3.5:1 in subjects with and without SOREMPs, respectively. No patient presented DR-15 nor Dq-6. Conclusions: Excessive sleepiness is a frequent disturbance in PWs. Subgroups of PW patients show hypersomnolence and SOREMPs. Sleep disordered breathing appears to have a limited role in the genesis of hypersomnia which not seems on the other hand attributable to the coexistence of narcolepsy phenotype. Hypersomnia in PW syndrome is likely to mainly be attributable to a primary hypothalamic dysfunction. The potential interacting role of other factors such as subjects age, sex and genetic pattern is suggested and deserve further investigation.

KW - HLA

KW - Hypersomnia

KW - Narcolepsy

KW - Prader Willi

KW - REM sleep onsets

UR - http://www.scopus.com/inward/record.url?scp=0035043575&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035043575&partnerID=8YFLogxK

U2 - 10.1016/S1388-2457(01)00483-7

DO - 10.1016/S1388-2457(01)00483-7

M3 - Article

C2 - 11336895

AN - SCOPUS:0035043575

VL - 112

SP - 800

EP - 805

JO - Clinical Neurophysiology

JF - Clinical Neurophysiology

SN - 1388-2457

IS - 5

ER -