Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

Orphanet Journal of Rare Diseases

Volumn 11, Issue 1, 2016, Pages

  Mangatt, Meghana ^a,b   Wong, Kingsley ^a   Anderson, Barbara ^a   Epstein, Amy ^a   Hodgetts, Stuart ^b,c   Leonard, Helen ^a   Downs, Jenny ^a,d  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c Western Australian Biomedical Research Institute   (Australia)

^d CURTIN UNIVERSITY   (Australia)

Author keywords

CDKL5 disorder; Comorbidities; Cyclin dependent kinase like 5 gene; MECP2; Rett syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE 5; CDKL5 PROTEIN, HUMAN; MECP2 PROTEIN, HUMAN; METHYL CPG BINDING PROTEIN 2; PROTEIN SERINE THREONINE KINASE;

ADOLESCENT; ADULT; AGE; ARTICLE; CDKL5 DISORDER; CDKL5 GENE; CHILD; CLINICAL FEATURE; COMORBIDITY; COMPARATIVE STUDY; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE ASSOCIATION; EPILEPSY; FEEDING DIFFICULTY; FEMALE; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENOTYPE; HUMAN; INFANT; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; ONSET AGE; PREVALENCE; RESPIRATORY TRACT DISEASE; RETT SYNDROME; SCOLIOSIS; SEX DIFFERENCE; SLEEP DISORDER; GENETICS; KAPLAN MEIER METHOD; METABOLISM; NEWBORN; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KAPLAN-MEIER ESTIMATE; MALE; METHYL-CPG-BINDING PROTEIN 2; PREVALENCE; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME;

EID: 84966355943     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-016-0418-y     Document Type: Article

References (55)

1. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, et al. Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet. 2003;72:1401-11.
2. Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, et al. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet. 2004;75:1149-54.
3. Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013;21:266-73.
4. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23:185-8.
5. Ager S, Fyfe S, Christodoulou J, Jacoby P, Schmitt L, Leonard H. Predictors of scoliosis in Rett syndrome. J Child Neurol. 2006;21:809-13.
6. Baikie G, Ravikumara M, Downs J, Naseem N, Wong K, Percy A, et al. Gastrointestinal dysmotility in Rett syndrome. J Pediatr Gastroenterol Nutr. 2014;58:237-44.
7. Bebbington A, Downs J, Percy A, Pineda M, Ben Zeev B, Bahi-Buisson N, et al. The phenotype associated with a large deletion on MECP2. Eur J Hum Genet. 2012;20:921-7.
8. d'Orsi G, Demaio V, Scarpelli F, Calvario T, Minervini MG. Central sleep apnoea in Rett syndrome. Neurol Sci. 2009;30:389-91.
9. Ellaway C, Peat J, Leonard H, Christodoulou J. Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain Dev. 2001;23 Suppl 1:S101-103.
10. Hagebeuk EEO, Bijlmer RPGM, Koelman JHTM, Poll-The BT. Respiratory disturbances in Rett syndrome: Don't forget to evaluate upper airway obstruction. J Child Neurol. 2012;27:888-92.
11. Julu PO, Kerr AM, Apartopoulos F, Al-Rawas S, Engerstrom IW, Engerstrom L, et al. Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child. 2001;85:29-37.
12. Rohdin M, Fernell E, Eriksson M, Albage M, Lagercrantz H, Katz-Salamon M. Disturbances in cardiorespiratory function during day and night in Rett syndrome. Pediatr Neurol. 2007;37:338-44.
13. Leonard H, Bower C, English D. The prevalence and incidence of Rett syndrome in Australia. Eur Child Adolesc Psychiatry. 1997;6 Suppl 1:8-10.
14. Louise S, Fyfe S, Bebbington A, Bahi-Buisson N, Anderson A, Pineda M, Percy A, Zeev BB, Wu XR, Bao X, et al. InterRett, a model for international data collection in a rare genetic disorder. Res Autism Spectrum Disorders 2009:639-659.
15. Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, et al. Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome. Neurology. 2008;70:1313-21.
16. Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006;43:729-34.
17. Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, et al. Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria. Brain Dev. 2010;32:17-24.
18. Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008;49:1027-37.
19. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, et al. Key clinical features to identify girls with CDKL5 mutations. Brain. 2008;131:2647-61.
20. Bahi-Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G, et al. Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationships. Am J Med Genet A. 2012;158A:1612-9.
21. Das DK, Mehta B, Menon SR, Raha S, Udani V. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett Syndrome. Neruomol Med. 2013;15:218-25.
22. Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005;13:1113-20.
23. Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, et al. There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 2015;7:2.
24. Hagebeuk EEO, Van den Bossche RAS, De Weerd AW. Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. Dev Med Child Neurol. 2012;55:480-4.
25. Jaehn J, Caliebe A, von Spiczak S, Boor R, Stefanova I, Stephani U, et al. CDKL5 mutations as a cause of severe epilepsy in infancy: Clinical and electroencephalographic long-term course in 4 patients. J Child Neurol. 2012;28:937-41.
26. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet. 2005;14:1935-46.
27. Pini G, Bigoni S, Engerstrom IW, Calabrese O, Felloni B, Scusa MF, et al. Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics. 2012;43:37-43.
28. Pintaudi M, Baglietto MG, Gaggero R, Parodi E, Pessagno A, Marchi M, et al. Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature. Epilepsy Behav. 2008;12:326-31.
29. Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, et al. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics. 2009;10:241-50.
30. Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet. 2005;42:103-7.
31. Stalpers XL, Spruijt L, Yntema HG, Verrips A. Clinical phenotype of 5 females with a CDKL5 mutation. J Child Neurol. 2012;27:90-3.
32. Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OLD, Archer H, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004;75:1079-93.
33. Wong K, Leonard H, Jacoby P, Ellaway C, Downs J. The trajectories of sleep disturbances in Rett syndrome. J Sleep Res. 2015;24:223-33.
34. Downs J, Leonard H. Longitudinal and population-based approaches to study the lifelong trajectories of children with neurodevelopmental conditions. In: Ronen GM, Rosenbaum PL, editors. Life quality outcomes in children and young adults with neurological and developmental conditions: concepts, evidence and practice. London: Mac Keith Press; 2013. p. 329-43.
35. Bertani I, Rusconi L, Bolognese F, Forlani G, Conca B, De Monte L, et al. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem. 2006;281:32048-56.
36. Bruni O, Ottaviano S, Guidetti V, Romoli M, Innocenzi M, Cortesi F, et al. The Sleep Disturbance Scale for Children (SDSC). Construction and validation of an instrument to evaluate sleep disturbances in childhood and adolescence. J Sleep Res. 1996;5:251-61.
37. Downs J, Torode I, Wong K, Ellaway C, Elliott E, Christodoulou J, Jacoby P, Thomson MR, Izatt MT, Askin GN, et al.: The natural history of scoliosis in females with Rett syndrome. Spine (Phila Pa 1976) Forthcoming 2015.
38. Hosain SA, La Vega-Talbott M, Solomon GE. Ketogenic diet in pediatric epilepsy patients with gastrostomy feeding. Pediatr Neurol. 2005;32:81-3.
39. Cook S, Hooper V, Nasser R, Larsen D. Effect of gastrostomy on growth in children with neurodevelopmental disabilities. Can J Diet Pract Res. 2005;66:19-24.
40. Cooper-Brown L, Copeland S, Dailey S, Downey D, Petersen MC, Stimson C, et al. Feeding and Swallowing Dysfunction in Genetic Syndromes. Dev Disabil Res Rev. 2008;14:147-57.
41. Cohen S, Conduit R, Lockley SW, Rajaratnam SMW, Cornish KM. The relationship between sleep and behavior in autism spectrum disorder (ASD): a review. J Neurodev Disord. 2014;6:44.
42. Didden R, Korzilius H, Smits MG, Curfs LMG. Sleep problems in individuals with Angelman syndrome. Am J Ment Retard. 2004;109:275-84.
43. Goldman SE, Surdyka K, Cuevas R, Adkins K, Wang L, Malow BA. Defining the Sleep Phenotype in Children With Autism. Dev Neuropsychol. 2009;34:560-73.
44. Lancioni GE, O'Reilly MF, Basili G. Review of strategies for treating sleep problems in persons with severe or profound mental retardation or multiple handicaps. Am J Ment Retard. 1999;104:170-86.
45. Corkum P, Davidson F, Tan-MacNeill K, Weiss S. Sleep in children with neurodevelopmental disorders:a focus on insomnia in children with ADHD and ASDs: a focus on insomnia in children with ADHD and ASDs. Sleep Medicine Clinics. 2014;9:149-68.
46. Jan JE, Bax MCO, Owens JA, Ipsiroglu OS, Wasdell MB. Neurophysiology of circadian rhythm sleep disorders of children with neurodevelopmental disabilities. Eur J Paediatr Neurol. 2012;16:403-12.
47. Richdale AFSGA. Stress, behaviour, and sleep problems in children with an intellectual disability. Am J Intellect Dev Disabil. 2000;25:147-61.
48. Cortese S, Faraone SV, Konofal E, Lecendreux M. Sleep in Children With Attention-Deficit/Hyperactivity Disorder: Meta-Analysis of Subjective and Objective Studies. J Am Academy Child Adolescent Psychiatry 2009:894-908.
49. Seddon PC, Khan Y. Respiratory problems in children with neurological impairment. Arch Dis Child. 2003;88:75-8.
50. Hogg JC, Williams J, Richardson JB, Macklem PT, Thurlbeck WM. Age as a factor in the distribution of lower-airway conductance and in the pathologic anatomy of obstructive lung disease. N Engl J Med. 1970;282:1283-7.
51. Szafranski P, Golla S, Jin W, Fang P, Hixson P, Matalon R, et al. Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015;23:915-21.
52. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, et al. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet. 2003;72:1401-11.
53. Bao X, Downs J, Wong K, Williams S, Leonard H. Using a large international sample to investigate epilepsy in R ett syndrome. Dev Med Child Neurol. 2013;55:553-8.
54. Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, et al. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr. 2014;55:292-8.
55. Smeets EEJ, Pelc K, Dan B. Rett syndrome. Mol Syndromol. 2011;2:113-27.