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Polysomnographic findings in Rett syndrome: a case–control study

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An Erratum to this article was published on 26 January 2013

Abstract

Purpose

Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and usually linked to mutations in the methyl-CpG-binding protein 2 gene, with an estimated prevalence of 1 in 10,000 live female births. Clinical features which usually become more apparent over time include breathing dysfunction, seizures, spasticity, peripheral vasomotor disturbance, scoliosis, growth retardation, and hypotrophic feet, with a great variety of presentations. The clear immaturity in brainstem mechanisms is expressed by the presence of early sleep disorders such as nocturnal awakenings, bruxism, and difficulty falling asleep, and no conclusive findings were derived from the few polysomnographic studies about the sleep macrostructural aspects. The aim of this study is to analyze the sleep macrostructural parameters, the nocturnal respiratory characteristic, and the presence of periodic limb movements in a sample of children affected by Rett syndrome.

Materials

Thirteen Rett subjects underwent a polysomnographic study, and the findings were compared with those obtained by a group of 40 healthy children.

Results

The Rett group shows a great impairment in sleep macrostructural and respiratory parameters, with a higher percentage of pathological periodic limb movements than the controls.

Conclusions

This study may be considered a report about the ventilatory impairment during sleep in Rett syndrome and the first approach to the macrostructural aspects of sleep supported by the PSG data that could be considered mandatory for a better comprehension of this very complex syndrome.

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References

  1. Rett A (1966) On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr 116:723–726

    PubMed  CAS  Google Scholar 

  2. Weaving LS, Ellaway CJ, Gecz J, Christodoulou J (2005) Rett syndrome: clinical review and genetic update. J Med Genet 42(1):1–7

    Article  PubMed  CAS  Google Scholar 

  3. Burford B, Kerr AM, Macleod HA (2003) Nurse recognition of early deviation in development in home videos of infants with Rett disorder. J Intellect Disabil Res 47(Pt 8):588–596

    Article  PubMed  CAS  Google Scholar 

  4. Einspieler C, Kerr AM, Prechtl HF (2005) Is the early development of girls with Rett disorder really normal? Pediatr Res 57(5 Pt 1):696–700

    Article  PubMed  Google Scholar 

  5. Hagberg B, Hanefeld F, Percy A, Skjeldal O (2002) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol 6(5):293–297

    Article  PubMed  Google Scholar 

  6. Moser SJ, Weber P, Lutschg J (2007) Rett syndrome: clinical and electrophysiologic aspects. Pediatr Neurol 36:95–100

    Article  PubMed  Google Scholar 

  7. Julu PO, Kerr AM, Hansen S, Apartopoulos F, Jamal GA (1997) Functional evidence of brain stem immaturity in Rett syndrome. Eur Child Adolesc Psychiatry 5(suppl 1):47–54

    Google Scholar 

  8. Armstrong DD, Deguchi K, Antallfy B (2003) Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain. J Child Neurol 18:683–687

    Article  PubMed  Google Scholar 

  9. Armstrong DD, Kinney HC (2001) The neuropathology of the Rett disorder. In: Kerr AM, Witt-Engerstrom I (eds) Rett disorder and the developing brain. Oxford University Press, Oxford, pp 57–84

    Google Scholar 

  10. Young D, Nagarajan L, de Klerk N, Jacoby P, Ellaway C, Leonard H (2007) Sleep problems in Rett syndrome. Brain Dev 29(10):609–616

    Article  PubMed  Google Scholar 

  11. Nomura Y (2005) Early behavior characteristics and sleep disturbance in Rett syndrome. Brain Dev 27(1):S35–S42

    Article  PubMed  Google Scholar 

  12. Ellaway C, Peat J, Leonard H, Christodoulou J (2001) Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain Dev 23(Suppl 1):S101–S103

    Article  PubMed  Google Scholar 

  13. Yamashita Y, Matsuishi T, Murakami Y, Kato H (1999) Sleep disorder in Rett syndrome and melatonin treatment. Brain Dev 21(8):570

    Article  PubMed  CAS  Google Scholar 

  14. Marcus CL, Carroll JL, McColley SA, Loughlin GM, Curtis S, Pyzik P, Naidu S (1994) Polysomnographic characteristics of patients with Rett syndrome. J Pediatr 125(2):218–224

    Article  PubMed  CAS  Google Scholar 

  15. Schlüter B, Aguigah G, Buschatz D, Trowitzsch E, Aksu F (1995) Polysomnographic recordings of respiratory disturbances in Rett syndrome. J Sleep Res 4(S1):203–207

    Article  PubMed  Google Scholar 

  16. Jasper HH (1958) The 10–20 electrode system of the international federation. Electroencephalogr Clin Neurophysiol 10:370–375

    Article  Google Scholar 

  17. Grigg-Damberger M, Gozal D, Marcus CL, Quan SF, Rosen CL, Chervin RD, Wise M, Picchietti DL, Sheldon SH, Iber C (2007) The visual scoring of sleep and arousal in infants and children: development of polygraphic features, reliability, validity, and alternative methods. J Clin Sleep Med 3(2):201–240

    PubMed  Google Scholar 

  18. Miano S, Bruni O, Aricò D, Elia M, Ferri R (2010) Polysomnographic assessment of sleep disturbances in children with developmental disabilities and seizures. Neurol Sci 31(5):575–583

    Article  PubMed  Google Scholar 

  19. American Thoracic Society (1996) Standards and indications for cardiopulmonary sleep studies in children. Am J Respir Crit Care Med 153:866–878

    Google Scholar 

  20. Zucconi M, Ferri R, Allen R, Baier PC, Bruni O, Chokroverty S, Ferini-Strambi L, Fulda S, Garcia-Borreguero D, Hening WA, Hirshkowitz M, Hogl B, Hornyak M, King M, Montagna P, Parrino L, Plazzi G, Terzano MG (2006) The official World Association of Sleep Medicine (WASM) standards for recording and scoring periodic leg movements in sleep (PLMS) and wakefulness (PLMW) developed in collaboration with a task force from the International Restless Legs Syndrome Study Group (IRLSSG). Sleep Med 7:175–183

    Article  PubMed  Google Scholar 

  21. Iber C, Ancoli-Israel S, Chesson AL, Quan SF (2007) The AASM manual for the scoring of sleep and associated events: rules, terminology, and technical specifications, 1st edn. American Academy of Sleep Medicine, Westchester

    Google Scholar 

  22. Crabtree VM, Ivanenko A, O’Brien LM, Gozal D (2003) Periodic limb movement disorder of sleep in children. J Sleep Res 12:73–81

    Article  PubMed  Google Scholar 

  23. American Academy of Sleep Medicine (2005) International classification of sleep disorders, 2nd edn: diagnostic and coding manual. American Academy of Sleep Medicine, Westchester

    Google Scholar 

  24. Matsuishi T, Yamashita Y, Takahashi T, Nagamitsu S (2011) Rett syndrome: the state of clinical and basic research, and future perspectives. Brain Dev 11. doi:10.1016/j.braindev.2010.12.007

  25. Trivedi A, Waters K, Suresh S, Nair R (2011) Congenital central hypoventilation syndrome: four families. Sleep Breath 15(4):785–789

    Article  PubMed  Google Scholar 

  26. Wong CP, Ng DK, Ma TM, Chau C, Chow PY, Kwok KL (2010) Improvement in quality of life after adenotonsillectomy in a child with Prader Willi syndrome. Sleep Breath 14(2):167–170

    Article  PubMed  Google Scholar 

  27. Elder DE, Whale J, Galletly D, Campbell AJ (2011) Respiratory events in preterm infants prior to discharge: with and without clinically concerning apnoea. Sleep Breath 15(4):867–873

    Article  PubMed  Google Scholar 

  28. Carroll JL, Agarwal A (2010) Development of ventilatory control in infants. Paediatr Respir Rev 11:199–207

    Article  PubMed  Google Scholar 

  29. Guideri F, Acampa M, Di Perri T, Zappella M, Hayek G (2001) Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant. J Child Neurol 16:370–373

    Article  PubMed  CAS  Google Scholar 

  30. Guideri F, Acampa M, Hayek G, Zappella MDi, Perri T (1999) Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death. Neuropediatrics 30:146–148

    Article  PubMed  CAS  Google Scholar 

  31. Guideri F, Acampa M, Blardi P, de Lalla A, Zappella M, Hayek Y (2004) Cardiac dysautonomia and serotonin plasma levels in Rett syndrome. Neuropediatrics 35(1):36–38

    Article  PubMed  CAS  Google Scholar 

  32. Acampa M, Guideri F, Hayek J, Blardi P, De Lalla A, Zappella M, Auteri A (2008) Sympathetic overactivity and plasma leptin levels in Rett syndrome. Neurosci Lett 432(1):69–72

    Article  PubMed  CAS  Google Scholar 

  33. Inyushkina EM, Merkulova NA, Inyushkin AN (2010) Mechanisms of the respiratory activity of leptin at the level of the solitary tract nucleus. Neurosci Behav Physiol 40(7):707–713

    Article  PubMed  CAS  Google Scholar 

  34. Banno K, Kryger MH (2007) Sleep apnoea: clinical investigations in humans. Sleep Med 8:400–426

    Article  PubMed  Google Scholar 

  35. d’Orsi G, Demaio V, Scarpelli F, Calvario T, Minervini MG (2009) Central sleep apnoea in Rett syndrome. Neurol Sci 30(5):389–391

    Article  PubMed  Google Scholar 

  36. Kerr AM, Armstrong DD, Prescott RJ, Doyle D, Kearney DL (1997) Rett syndrome: analysis of deaths in the British survey. Eur Child Adolesc Psychiatry 6(Suppl 1):71–74

    PubMed  Google Scholar 

  37. Stores G (2001) Sleep–wake function in children with neurodevelopmental and psychiatric disorders. Semin Pediatr Neurol 8:188–197

    Article  PubMed  CAS  Google Scholar 

  38. Nomura Y (2001) Neurophysiology of Rett syndrome. Brain Dev 23(1):S50–S57

    Article  PubMed  Google Scholar 

  39. Mironov SL, Skorova EY, Kügler S (2011) Epac-mediated cAMP-signalling in the mouse model of Rett syndrome. Neuropharmacology 60(6):869–877

    Article  PubMed  CAS  Google Scholar 

  40. Reiss AL, Faruque F, Naidu S, Abrams M, Beaty T, Bryann RN, Moser H (1993) Neuroanatomy of Rett syndrome: a volumetric imaging study. Ann Neurol 34:227–234

    Article  PubMed  CAS  Google Scholar 

  41. Subramaniam B, Naidu S, Reiss AL (1997) Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa. Neurology 48:399–407

    Article  PubMed  CAS  Google Scholar 

  42. Armstrong DD (2001) Rett syndrome neuropathology review 2000. Brain Dev 23(suppl 1):S72–S76

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Center for Sleep Disorders in Childhood–Clinic of Child and Adolescent Neuropsychiatry, Second University of Naples, Via Sergio Pansini n.5 PAD XI, 80131, Naples, Italy

    Marco Carotenuto, Maria Esposito, Alfredo D’Aniello, Carmen Donatella Rippa, Francesco Precenzano & Antonio Pascotto

  2. Department of Pediatrics, Federico II University, Naples, Italy

    Carmela Bravaccio

  3. Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italy

    Maurizio Elia

Authors
  1. Marco Carotenuto
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  2. Maria Esposito
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  3. Alfredo D’Aniello
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  4. Carmen Donatella Rippa
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  5. Francesco Precenzano
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  6. Antonio Pascotto
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  7. Carmela Bravaccio
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  8. Maurizio Elia
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Correspondence to Marco Carotenuto.

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Carotenuto, M., Esposito, M., D’Aniello, A. et al. Polysomnographic findings in Rett syndrome: a case–control study. Sleep Breath 17, 93–98 (2013). https://doi.org/10.1007/s11325-012-0654-x

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  • DOI: https://doi.org/10.1007/s11325-012-0654-x

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