The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

Research in Autism Spectrum Disorders

Volumn 5, Issue 1, 2011, Pages 442-449

  Young, Deidra ^a,c   Bebbington, Ami ^a   De Klerk, Nick ^a   Bower, Carol ^a   Nagarajan, Lakshmi ^b   Leonard, Helen ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Health service use; Health status; Longitudinal; MECP2 mutation; Multilevel regression; Rett syndrome; Trajectory

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; FEMALE; GENE DELETION; GENE MUTATION; HEALTH SERVICE; HEALTH STATUS; HUMAN; MAJOR CLINICAL STUDY; PRESCHOOL CHILD; PRIORITY JOURNAL; QUESTIONNAIRE; RETT SYNDROME; SCHOOL CHILD; SCORING SYSTEM;

EID: 77957339780     PISSN: 17509467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rasd.2010.06.007     Document Type: Article

References (34)

1. S. Ager, S. Fyfe, J. Christodoulou, P. Jacoby, L. Schmitt, and H. Leonard Predictors of scoliosis in Rett syndrome Journal of Child Neurology 21 2006 809 813
2. R.E. Amir, I.B. Van den Veyver, R. Schultz, D.M. Malicki, C.Q. Tran, and E.J. Dahle Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes Annals of Neurology 47 2000 670 679
3. R.E. Amir, I.B. Van den Veyver, M. Wan, C.Q. Tran, U. Francke, and H.Y. Zoghbi Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nature Genetics 23 1999 185 188
4. A. Bebbington, H. Leonard, B. Ben Zeev, A. Anderson, D. Ravine, and S. Fyfe Investigating genotype-phenotype relationships in Rett syndrome using an international dataset Neurology 70 2008 868 875
5. A. Bebbington, A. Percy, J. Christodoulou, D. Ravine, G. Ho, and P. Jacoby Updating the profile of C-terminal MECP2 deletions in Rett syndrome Journal of Medical Genetics 47 2010 242 248
6. J.A. Binks, W.S. Barden, T.A. Burke, and N.L. Young What do we really know about the transition to adult-centered health care? A focus on cerebral palsy and spina bifida Archives of Physical Medical Rehabilitation 88 2007 1064 1073
7. L. Colvin, S. Fyfe, S. Leonard, T. Schiavello, C. Ellaway, and N. de Klerk Describing the phenotype in Rett syndrome using a population database Archives of Disease in Childhood 88 2003 38 43
8. L. Colvin, H. Leonard, N. de Klerk, M. Davis, L. Weaving, and S. Williamson Refining the phenotype of common mutations in Rett syndrome Journal of Medical Genetics 41 2004 25 30
9. J. Downs, A. Bebbington, P. Jacoby, M. Masall, O. McIlroy, and S.D. Fyfe Mobility profile in Rett syndrome as determined by video analysis Neuropediatrics 39 2008 205 210
10. M. Freilinger, A. Bebbington, I. Lanator, N. de Klerk, D. Dunkler, and R. Seidl Survival with Rett syndrome: Comparing Retts original sample with data from the Australian Rett syndrome database Developmental Medicine and Child Neurology 2010 http://www3.interscience.wiley.com/journal/123553395/abstract? CRETRY=1&SRETRY=0
11. M. Gazarian, K. Williams, E. Elliott, K. Chant, H. Longbottom, and C. Mellis Evaluation of a national surveillance unit Archives of Disease in Childhood 80 1999 21 27
12. B. Hagberg, F. Hanefeld, A. Percy, and O. Skjeldal 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, Germany, 11 September 2001 European Journal of Pediatric Neurology 6 2002 293 297
13. B. Hagberg, I. Witt-Engerström, J.M. Opitz, and J.F. Reynolds Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence American Journal of Medical Genetics Part A 25 1986 47 59
14. N.S. Halbach, E.E. Smeets, C.T. Schrander-Stumpel, H.H. van Schrojenstein Lantman de Valk, M.A. Maaskant, and L.M. Curfs Aging in people with specific genetic syndromes: Rett syndrome American Journal of Medical Genetics Part A 146A 2008 1925 1932
15. P. Huppke, M. Held, F. Handefeld, W. Engel, and F. Laccone Influence of mutation type and location on phenotype in 123 patients with Rett syndrome Neuropediatrics 33 2002 63 68
16. L. Jian, H.L. Archer, D. Ravine, A. Kerr, N. de Klerk, and J. Christodoulou p.R270X MECP2 mutation and mortality in Rett syndrome European Journal of Human Genetics 13 2005 1235 1238
17. L. Jian, L. Nagarajan, N. de Klerk, D. Ravine, C. Bower, and A. Anderson Predictors of seizure onset in Rett syndrome Journal of Pediatrics 149 2006 542 547
18. A.M. Kerr, Y. Nomura, D. Armstrong, M. Anvret, P.V. Belichenko, and S. Budden Guidelines for reporting clinical features in cases with MECP2 mutations Brain and Development 23 2001 208 211
19. C. Laurvick, N. de Klerk, C. Bower, J. Christodoulou, D. Ravine, and C. Ellaway Rett syndrome in Australia: A review of the epidemiology Journal of Pediatrics 148 2006 347 352
20. H. Leonard, and C. Bower Is the girl with Rett syndrome normal at birth? Developmental Medicine and Child Neurology 40 1998 115 121
21. H. Leonard, L. Colvin, J. Christodoulou, T. Schiavello, S. Williamson, and M. Davis Patients with the R133C mutation: Is their phenotype different from patients with Rett syndrome with other mutations? Journal of Medical Genetics 40 2003 E52
22. E. Monros, J. Armstrong, E. Aibar, P. Poo, I. Canos, and M. Pineda Rett syndrome in Spain: Mutation analysis and clinical correlations Brain and Development 23 2001 S251 S253
23. H. Moore, H. Leonard, N. de Klerk, I. Robertson, S. Fyfe, and J. Christodoulou Health service use in Rett syndrome Journal of Child Neurology 20 2005 42 50
24. J.L. Neul, P. Fang, J. Barrish, J. Lane, E.B. Caeg, and E.O. Smith Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome Neurology 70 2008 1313 1321
25. W.H. Oddy, K.G. Webb, G. Baikie, S.M. Thompson, S. Reilly, and S.D. Fyfe Feeding experiences and growth status in a Rett syndrome population Journal of Pediatric Gastroenterology and Nutrition 45 2007 582 590
26. A. Renieri, I. Meloni, I. Longo, F. Ariani, F. Mari, and C. Pescucci Rett syndrome: The complex nature of a monogenic disease Journal of Molecular Medicine 81 2003 346 354
27. C. Schanen, E.J. Houwink, N. Dorrani, J. Lane, R. Everett, and A. Feng Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome American Journal of Medical Genetics Part A 126 2004 129 140
28. E. Smeets, P. Terhal, P. Casaer, A. Peters, A. Midro, and E. Schollen Rett syndrome in females with CTS hot spot deletions: A disorder profile American Journal of Medical Genetics Part A 132 2005 117 120
29. E.E. Smeets, M. Chenault, L.M. Curfs, C.T. Schrander-Stumpel, and J.P. Frijns Rett syndrome and long-term disorder profile American Journal of Medical Genetics Part A 149A 2009 199 205
30. Stata Stata statistical software (version 9th) 1996-2006 Stata Corp LP College Station, TX, USA
31. J. Tudor Hart Three decades of the inverse care law British Medical Journal 320 2000 18 19
32. L.S. Weaving, C.J. Ellaway, J. Gecz, and J. Christodoulou Rett syndrome: Clinical review and genetic update Journal of Medical Genetics 42 2005 1 7
33. I. Witt-Engerström Age-related occurrence of signs and symptoms in the Rett syndrome Brain and Development 14 1992 S11 S20
34. D.J. Young, A. Bebbington, A. Anderson, D. Ravine, C. Ellaway, and A. Kulkarni The diagnosis of autism in a female: Could it be Rett syndrome? European Journal of Pediatrics 167 2008 661 669