Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene

Developmental Medicine and Child Neurology

Volumn 55, Issue 5, 2013, Pages 480-484

  Hagebeuk, Eveline E O ^a   Van Den Bossche, Renilde A S ^b   De Weerd, Al W ^b  

^a Stichting Epilepsie Instellingen   (Netherlands)

^b STICHTING EPILEPSIE INSTELLINGEN NEDERLAND SEIN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 5;

ADOLESCENT; APNEA HYPOPNEA INDEX; AROUSAL; ARTICLE; BREATHING DISORDER; CASE REPORT; CENTRAL SLEEP APNEA SYNDROME; CHILD; DAYTIME SOMNOLENCE; FEMALE; GENE MUTATION; HUMAN; HYPERVENTILATION; POLYSOMNOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; REM SLEEP; RESPIRATORY TRACT DISEASE; RETT SYNDROME; SCHOOL CHILD; SLEEP DISORDER; SLEEP TIME; WAKEFULNESS;

ADOLESCENT; CHILD, PRESCHOOL; FEMALE; HUMANS; MUTATION; POLYSOMNOGRAPHY; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SLEEP APNEA SYNDROMES;

EID: 84876194416     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04432.x     Document Type: Article

References (17)

1. Neul JL, Kaufmann WE, Glaze DG, et al.Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010; 68: 944-50.
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 Neurol 2007; 37: 338-44.
3. Neul JL, Fang P, Barrish J, et al.Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome. Neurology 2008; 70: 1313-21.
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 Genet 2004; 75: 1079-93.
5. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al.Key clinical features to identify girls with CDKL5 mutations. Brain 2008; 131: 2647-61.
6. Carouge D, Host L, Aunis D, Zwiller J, Anglard P. CDKL5 is a brain MeCP2 target gene regulated by DNA methylation. Neurobiol Dis 2010; 38: 414-24.
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 Res 1996; 5: 251-61.
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: 48-9.
9. Pini G, Bigoni S, Engerström IW, et al.Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics 2012; 43: 37-43.
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 Child 1988; 63: 1039-48.
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 Child 1997; 77: 464-5.
12. Peña F, Garcia O. Breathing generation and potential pharmacotherapeutic approaches to central respiratory disorders. Curr Med Chem 2006; 13: 2681-93.
13. 2 on sleep-related disordered breathing in ambulatory patients with stable heart failure. Sleep 1999; 22: 1101-6.
14. McNamara F, Harris MA, Sullivan CE. Effects of nasal continuous positive airway pressure on apnoea index and sleep in infants. J Paediatr Child Health 1995; 31: 88-94.
15. Young D, Nagarajan L, de Klerk N, Jacoby P, Ellaway C, Leonard H. Sleep problems in Rett syndrome. Brain Dev 2007; 29: 609-16.
16. Ellaway C, Peat J, Loenard H, Christodoulou J. Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain Dev 2001; 23: S101-3.
17. Caratenuto M, Esposito M, D'Aniello A, et al.Polysomnographic findings in Rett syndrome; a case-control study. Sleep Breath 2012; Mar 7. (epub ahead of print).