Skip to main content
main-content
Top

Tip

Swipe om te navigeren naar een ander artikel

Gepubliceerd in: Journal of Autism and Developmental Disorders 6/2021

26-08-2020 | Original Paper

Composite Sleep Problems Observed Across Smith–Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt–Hopkins Syndrome, and ASD

Auteurs: Anusha Gandhi, Dihong Zhou, Joseph Alaimo, Edwin Chon, Michael D. Fountain, Sarah H. Elsea

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 6/2021

Log in om toegang te krijgen
share
DELEN

Deel dit onderdeel of sectie (kopieer de link)

  • Optie A:
    Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
  • Optie B:
    Deel de link per e-mail

Abstract

Caregivers of preschool and elementary school age children with Smith–Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt–Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals.
Bijlagen
Alleen toegankelijk voor geautoriseerde gebruikers
Literatuur
go back to reference Amiel, J., Rio, M., de Pontual, L., Redon, R., Malan, V., Boddaert, N., et al. (2007). Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. American Journal of Human Genetics, 80(5), 988–993. https://​doi.​org/​10.​1086/​515582. CrossRefPubMedPubMedCentral Amiel, J., Rio, M., de Pontual, L., Redon, R., Malan, V., Boddaert, N., et al. (2007). Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. American Journal of Human Genetics, 80(5), 988–993. https://​doi.​org/​10.​1086/​515582. CrossRefPubMedPubMedCentral
go back to reference Owens, J. A., Spirito, A., & McGuinn, M. (2000). The children’s sleep habits questionnaire (CSHQ): Psychometric properties of a survey instrument for school-aged children. Sleep, 23(8), 1043–1051. CrossRef Owens, J. A., Spirito, A., & McGuinn, M. (2000). The children’s sleep habits questionnaire (CSHQ): Psychometric properties of a survey instrument for school-aged children. Sleep, 23(8), 1043–1051. CrossRef
go back to reference Smith, A. C., Dykens, E., & Greenberg, F. (1998). Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). American Journal of Medical Genetics, 81(2), 186–191. CrossRef Smith, A. C., Dykens, E., & Greenberg, F. (1998). Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). American Journal of Medical Genetics, 81(2), 186–191. CrossRef
go back to reference Smith, Ann CM, Boyd, K. E., Brennan, C., Charles, J., Elsea, S. H., Finucane, B. M., Foster, R., Gropman, A., Girirajan, S., & Haas-Givler, B. (1993). Smith-Magenis syndrome. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. Bean, K. Stephens, & A. Amemiya (Eds.), GeneReviews®. University of Washington, Seattle. https://​www.​ncbi.​nlm.​nih.​gov/​books/​NBK1310/​ Smith, Ann CM, Boyd, K. E., Brennan, C., Charles, J., Elsea, S. H., Finucane, B. M., Foster, R., Gropman, A., Girirajan, S., & Haas-Givler, B. (1993). Smith-Magenis syndrome. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. Bean, K. Stephens, & A. Amemiya (Eds.), GeneReviews®. University of Washington, Seattle. https://​www.​ncbi.​nlm.​nih.​gov/​books/​NBK1310/​
Metagegevens
Titel
Composite Sleep Problems Observed Across Smith–Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt–Hopkins Syndrome, and ASD
Auteurs
Anusha Gandhi
Dihong Zhou
Joseph Alaimo
Edwin Chon
Michael D. Fountain
Sarah H. Elsea
Publicatiedatum
26-08-2020
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 6/2021
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-020-04666-2