• 1
    Neul JL, Kaufmann WE, Glaze DG, et al.Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol2010; 68: 94450.
  • 2
    Rohdin M, Fernell E, Eriksonn M, Albage M, Langercrantz H, Katz-Salamon M. Disturbances in cardiorespiratory function during day and night in Rett syndrome. Pediatr Neurol2007; 37: 33844.
  • 3
    Neul JL, Fang P, Barrish J, et al.Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome. Neurology2008; 70: 131321.
  • 4
    Weaving LS, Christodoulou J, Williamson SL, et al.Mutations in CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet2004; 75: 107993.
  • 5
    Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al.Key clinical features to identify girls with CDKL5 mutations. Brain2008; 131: 264761.
  • 6
    Carouge D, Host L, Aunis D, Zwiller J, Anglard P. CDKL5 is a brain MeCP2 target gene regulated by DNA methylation. Neurobiol Dis2010; 38: 41424.
  • 7
    Bruni O, Ottaviano S, Guidetti V, et al.The Sleep Disturbance Scale for Children (SDCS). Construction and validation of an instrument to evaluate sleep disturbances in childhood and adolescence. J Sleep Res1996; 5: 25161.
  • 8
    Iber C, Ancoli-Israel S, Chesson AL Jr, Quan SF. The American Academy of Sleep Medicine (AASM) Manual for the Scoring of Sleep and Associated Events, 1st edn. Westchester, IL: American Academy of Sleep Medicine, 2007: 489.
  • 9
    Pini G, Bigoni S, Engerström IW, et al.Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics2012; 43: 3743.
  • 10
    Southall DP, Kerr AM, Tirosh E, Amos P, Lang MH, Stephenson JB. Hyperventilation in the awake state: potentially treatable component of Rett syndrome. Arch Dis Child1988; 63: 103948.
  • 11
    Julu PO, Kerr AM, Hansen S, Apartopoulus F, Jamal GA. Immaturity of medullary cardiorespiratory neurones leading to inappropriate autonomic reactions as a likely cause of sudden death in Rett’s syndrome. Arch Dis Child1997; 77: 4645.
  • 12
    Peña F, Garcia O. Breathing generation and potential pharmacotherapeutic approaches to central respiratory disorders. Curr Med Chem2006; 13: 268193.
  • 13
    Javaheri S, Ahmed M, Parker TJ, Brown CR. Effects of nasal O2 on sleep-related disordered breathing in ambulatory patients with stable heart failure. Sleep1999; 22: 11016.
  • 14
    McNamara F, Harris MA, Sullivan CE. Effects of nasal continuous positive airway pressure on apnoea index and sleep in infants. J Paediatr Child Health1995; 31: 8894.
  • 15
    Young D, Nagarajan L, de Klerk N, Jacoby P, Ellaway C, Leonard H. Sleep problems in Rett syndrome. Brain Dev2007; 29: 60916.
  • 16
    Ellaway C, Peat J, Loenard H, Christodoulou J. Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain Dev2001; 23: S1013.
  • 17
    Caratenuto M, Esposito M, D’Aniello A, et al.Polysomnographic findings in Rett syndrome; a case-control study. Sleep Breath2012; Mar 7. (epub ahead of print).