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Neuropediatrics 2020; 51(03): 198-205
DOI: 10.1055/s-0040-1701693
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Sleep Quality in Children and Adults with Rett Syndrome

Y. Leven
1   University of Southampton, Faculty of Medicine, England, United Kingdom
,
F. Wiegand
2   Department of Pediatric Neurology, Klinikum Kassel, Germany
,
B. Wilken
2   Department of Pediatric Neurology, Klinikum Kassel, Germany
› Institutsangaben
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Publikationsverlauf

12. Mai 2019

31. Dezember 2019

Publikationsdatum:
06. März 2020 (online)

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Abstract

Background Over 80% of individuals suffering from Rett syndrome (RTT) are affected over their life period by sleeping disorders. Little is known about the impact of those on the quality of life and a clinical approach to the treatment of sleep disturbances is lacking.

Aims Primary aim was to assess sleep quality in children and adults. Secondary aim was to assess behavioral disorders and their relationship to sleep quality. The medication taken by the subjects was also included.

Methods Sleep quality and medication were assessed using the sleeping questionnaire for children with neurological and other complex diseases (SNAKE). Behavioral disorders were assessed by the Rett Syndrome Behavior Questionnaire (RSBQ). Questionnaires were sent to the 700 members of the Elternhilfe für Kinder mit Rett Syndrom in Deutschland e.V. (Rett Aid) of which 287 were included. Questionnaires were filled out by the primary caregivers.

Results Sleep quality was rated as very good to good by over 60% of caregivers in contrast to data available in the literature. Behavioral disorders related to regression such as loss of acquired hand skills (p = 0.046) and isolation (p = 0.002) were found to be associated with sleep quality. Melatonin showed a significant association (p = 0.007) with sleep quality.

Conclusion Our study showed sleep dysfunction to be less prevalent in RTT-affected individuals than evidence from past studies has suggested. Nevertheless, this remains a subjective assessment of sleep quality and therefore the need to find objective, disorder-specific parameters that measure sleep quality in RTT patients persists.

Keywords

Rett syndrome - quality of life - sleep quality - SNAKE - RSBQ - MECP2
 

  • References

  • 1 Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs LM. Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes. Orphanet J Rare Dis 2016; 11 (01) 158
    CrossrefPubMedGoogle Scholar
  • 2 Katz DM, Bird A, Coenraads M. , et al. Rett syndrome: crossing the threshold to clinical translation. Trends Neurosci 2016; 39 (02) 100-113
    CrossrefPubMedGoogle Scholar
  • 3 Downs J, Leonard H. Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families. Wien Med Wochenschr 2016; 166 (11-12): 338-345
    CrossrefPubMedGoogle Scholar
  • 4 Blackmer AB, Feinstein JA. Management of sleep disorders in children with neurodevelopmental disorders: a review. Pharmacotherapy 2016; 36 (01) 84-98
    CrossrefPubMedGoogle Scholar
  • 5 Angriman M, Caravale B, Novelli L, Ferri R, Bruni O. Sleep in children with neurodevelopmental disabilities. Neuropediatrics 2015; 46 (03) 199-210
    Artikel in Thieme ConnectPubMedGoogle Scholar
  • 6 McDougall A, Kerr A, Espie C. Sleep disturbance in children with Rett syndrome: a qualitative investigation of the parental experience. J Appl Res Intellect Disabil 2005; 18: 201-215
    CrossrefPubMedGoogle Scholar
  • 7 Boban S, Leonard H, Wong K, Wilson A, Downs J. Sleep disturbances in Rett syndrome: impact and management including use of sleep hygiene practices. Am J Med Genet A 2018; 176 (07) 1569-1577
    CrossrefPubMedGoogle Scholar
  • 8 Epstein A, Leonard H, Davis E. , et al. Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods. Am J Med Genet A 2016; 170 (03) 645-653
    CrossrefPubMedGoogle Scholar
  • 9 Blankenburg M, Tietze AL, Hechler T. , et al. Snake: the development and validation of a questionnaire on sleep disturbances in children with severe psychomotor impairment. Sleep Med 2013; 14 (04) 339-351
    CrossrefPubMedGoogle Scholar
  • 10 Mount RH, Charman T, Hastings RP, Reilly S, Cass H. The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome. J Child Psychol Psychiatry 2002; 43 (08) 1099-1110
    CrossrefPubMedGoogle Scholar
  • 11 Carotenuto M, Esposito M, D'Aniello A. , et al. Polysomnographic findings in Rett syndrome: a case-control study. Sleep Breath 2013; 17 (01) 93-98
    CrossrefPubMedGoogle Scholar
  • 12 McArthur AJ, Budden SS. Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment. Dev Med Child Neurol 1998; 40 (03) 186-192
    PubMedGoogle Scholar
  • 13 Wong K, Leonard H, Jacoby P, Ellaway C, Downs J. The trajectories of sleep disturbances in Rett syndrome. J Sleep Res 2015; 24 (02) 223-233
    CrossrefPubMedGoogle Scholar
  • 14 Boban S, Wong K, Epstein A. , et al. Determinants of sleep disturbances in Rett syndrome: novel findings in relation to genotype. Am J Med Genet A 2016; 170 (09) 2292-2300
    CrossrefPubMedGoogle Scholar
  • 15 Halbach NS, Smeets EE, Steinbusch C, Maaskant MA, van Waardenburg D, Curfs LM. Aging in Rett syndrome: a longitudinal study. Clin Genet 2013; 84 (03) 223-229
    CrossrefPubMedGoogle Scholar
  • 16 Wasdell MB, Jan JE, Bomben MM. , et al. A randomized, placebo-controlled trial of controlled release melatonin treatment of delayed sleep phase syndrome and impaired sleep maintenance in children with neurodevelopmental disabilities. J Pineal Res 2008; 44 (01) 57-64
    PubMedGoogle Scholar
  • 17 Kaufmann WE, Stallworth JL, Everman DB, Skinner SA. Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opin Orphan Drugs 2016; 4 (10) 1043-1055
    PubMedGoogle Scholar
  • 18 Krystal AD, Edinger JD. Measuring sleep quality. Sleep Med 2008; 9 (Suppl. 01) S10-S17
    CrossrefPubMedGoogle Scholar