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Volumn 53, Issue 5, 2015, Pages 402-411

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders

Author keywords

mortality; prognosis; Rett syndrome; risk factors; survival

Indexed keywords

METHYL CPG BINDING PROTEIN 2; MECP2 PROTEIN, HUMAN;

EID: 84945459397     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2015.06.003     Document Type: Article
Times cited : (79)

References (34)
  • 1
    • 80051716594 scopus 로고    scopus 로고
    • Trends in the diagnosis of Rett syndrome in Australia
    • S. Fehr, A. Bebbington, N. Nassar, and et al. Trends in the diagnosis of Rett syndrome in Australia Pediatr Res 70 2011 313 319
    • (2011) Pediatr Res , vol.70 , pp. 313-319
    • Fehr, S.1    Bebbington, A.2    Nassar, N.3
  • 4
    • 1642367538 scopus 로고    scopus 로고
    • Rett syndrome: a prototypical neurodevelopmental disorder
    • J.L. Neul, and H.Y. Zoghbi Rett syndrome: a prototypical neurodevelopmental disorder Neuroscientist 10 2004 118 128
    • (2004) Neuroscientist , vol.10 , pp. 118-128
    • Neul, J.L.1    Zoghbi, H.Y.2
  • 5
    • 72049107802 scopus 로고    scopus 로고
    • Longevity in Rett syndrome: analysis of the North American Database
    • R.S. Kirby, J.B. Lane, J. Childers, and et al. Longevity in Rett syndrome: analysis of the North American Database J Pediatr 156 2010 135 138.e131
    • (2010) J Pediatr , vol.156 , pp. 135e131-138e131
    • Kirby, R.S.1    Lane, J.B.2    Childers, J.3
  • 6
    • 84871104967 scopus 로고    scopus 로고
    • Growth failure and outcome in Rett syndrome: specific growth references
    • D.C. Tarquinio, K.J. Motil, W. Hou, and et al. Growth failure and outcome in Rett syndrome: specific growth references Neurology 79 2012 1653 1661
    • (2012) Neurology , vol.79 , pp. 1653-1661
    • Tarquinio, D.C.1    Motil, K.J.2    Hou, W.3
  • 7
    • 84885218655 scopus 로고    scopus 로고
    • Assessment and Management of Nutrition and Growth in Rett Syndrome
    • H. Leonard, M. Ravikumara, G. Baikie, and et al. Assessment and Management of Nutrition and Growth in Rett Syndrome J Pediatr Gastroenterol Nutr 57 2013 451 460
    • (2013) J Pediatr Gastroenterol Nutr , vol.57 , pp. 451-460
    • Leonard, H.1    Ravikumara, M.2    Baikie, G.3
  • 8
    • 77949546682 scopus 로고    scopus 로고
    • Profiling scoliosis in Rett syndrome
    • A.K. Percy, H.S. Lee, J.L. Neul, and et al. Profiling scoliosis in Rett syndrome Pediatr Res 67 2010 435 439
    • (2010) Pediatr Res , vol.67 , pp. 435-439
    • Percy, A.K.1    Lee, H.S.2    Neul, J.L.3
  • 9
    • 77950503200 scopus 로고    scopus 로고
    • Epilepsy and the natural history of Rett syndrome
    • D.G. Glaze, A.K. Percy, S. Skinner, and et al. Epilepsy and the natural history of Rett syndrome Neurology 74 2010 909 912
    • (2010) Neurology , vol.74 , pp. 909-912
    • Glaze, D.G.1    Percy, A.K.2    Skinner, S.3
  • 10
    • 84865702920 scopus 로고    scopus 로고
    • Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome
    • K.J. Motil, E. Caeg, J.O. Barrish, and et al. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome J Pediatr Gastroenterol Nutr 55 2012 292 298
    • (2012) J Pediatr Gastroenterol Nutr , vol.55 , pp. 292-298
    • Motil, K.J.1    Caeg, E.2    Barrish, J.O.3
  • 12
    • 77956477922 scopus 로고    scopus 로고
    • Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database
    • M. Freilinger, A. Bebbington, I. Lanator, and et al. Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database Dev Med Child Neurol 52 2010 962 965
    • (2010) Dev Med Child Neurol , vol.52 , pp. 962-965
    • Freilinger, M.1    Bebbington, A.2    Lanator, I.3
  • 14
    • 0037002625 scopus 로고    scopus 로고
    • 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
    • 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 Baden, Germany, 11 September 2001 Eur J Paediatr Neurol 6 2002 293 297
    • (2002) Eur J Paediatr Neurol , vol.6 , pp. 293-297
    • Hagberg, B.1    Hanefeld, F.2    Percy, A.3    Skjeldal, O.4
  • 15
    • 78650903501 scopus 로고    scopus 로고
    • Rett syndrome: revised diagnostic criteria and nomenclature
    • J.L. Neul, W.E. Kaufmann, D.G. Glaze, and et al. Rett syndrome: revised diagnostic criteria and nomenclature Ann Neurol 68 2010 944 950
    • (2010) Ann Neurol , vol.68 , pp. 944-950
    • Neul, J.L.1    Kaufmann, W.E.2    Glaze, D.G.3
  • 16
    • 84952877388 scopus 로고    scopus 로고
    • Developmental delay in Rett syndrome: data from the natural history study
    • J.L. Neul, J.B. Lane, H.S. Lee, and et al. Developmental delay in Rett syndrome: data from the natural history study J Neurodev Disord 6 2014 20
    • (2014) J Neurodev Disord , vol.6 , pp. 20
    • Neul, J.L.1    Lane, J.B.2    Lee, H.S.3
  • 18
    • 0032574329 scopus 로고    scopus 로고
    • British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood
    • T.J. Cole, J.V. Freeman, and M.A. Preece British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood Stat Med 17 1998 407 429
    • (1998) Stat Med , vol.17 , pp. 407-429
    • Cole, T.J.1    Freeman, J.V.2    Preece, M.A.3
  • 19
    • 84894438035 scopus 로고    scopus 로고
    • Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
    • V.A. Cuddapah, R.B. Pillai, K.V. Shekar, and et al. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome J Med Genet 51 2014 152 158
    • (2014) J Med Genet , vol.51 , pp. 152-158
    • Cuddapah, V.A.1    Pillai, R.B.2    Shekar, K.V.3
  • 22
    • 0035196604 scopus 로고    scopus 로고
    • A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2
    • J.B. Nielsen, K. Ravn, and M. Schwartz A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2 Brain Dev 23 Suppl 1 2001 S230 S232
    • (2001) Brain Dev , vol.23 , pp. S230-S232
    • Nielsen, J.B.1    Ravn, K.2    Schwartz, M.3
  • 26
    • 84355166207 scopus 로고    scopus 로고
    • Medical care of adolescents and women with Rett syndrome: an Italian study
    • A. Vignoli, F. La Briola, A. Peron, and et al. Medical care of adolescents and women with Rett syndrome: an Italian study Am J Med Genet A 158A 2012 13 18
    • (2012) Am J Med Genet A , vol.158 A , pp. 13-18
    • Vignoli, A.1    La Briola, F.2    Peron, A.3
  • 28
    • 84925146582 scopus 로고    scopus 로고
    • Epidemiology of rett syndrome in serbia: prevalence, incidence and survival
    • A. Sarajlija, D. Kisic-Tepavcevic, Z. Nikolic, and et al. Epidemiology of rett syndrome in serbia: prevalence, incidence and survival Neuroepidemiology 44 2015 1 5
    • (2015) Neuroepidemiology , vol.44 , pp. 1-5
    • Sarajlija, A.1    Kisic-Tepavcevic, D.2    Nikolic, Z.3
  • 29
    • 0031470764 scopus 로고    scopus 로고
    • The prevalence and incidence of Rett syndrome in Australia
    • H. Leonard, C. Bower, and D. English The prevalence and incidence of Rett syndrome in Australia Eur Child Adolesc Psychiatry 6 Suppl 1 1997 8 10
    • (1997) Eur Child Adolesc Psychiatry , vol.6 , pp. 8-10
    • Leonard, H.1    Bower, C.2    English, D.3
  • 30
    • 33646122868 scopus 로고    scopus 로고
    • The incidence of Rett syndrome in France
    • T. Bienvenu, C. Philippe, N. De Roux, and et al. The incidence of Rett syndrome in France Pediatr Neurol 34 2006 372 375
    • (2006) Pediatr Neurol , vol.34 , pp. 372-375
    • Bienvenu, T.1    Philippe, C.2    De Roux, N.3
  • 32
    • 34447297311 scopus 로고    scopus 로고
    • MECP2 mutations in males
    • L. Villard MECP2 mutations in males J Med Genet 44 2007 417 423
    • (2007) J Med Genet , vol.44 , pp. 417-423
    • Villard, L.1
  • 33
    • 27144499320 scopus 로고    scopus 로고
    • Rett syndrome: long-term clinical follow-up experiences over four decades
    • B. Hagberg Rett syndrome: long-term clinical follow-up experiences over four decades J Child Neurol 20 2005 722 727
    • (2005) J Child Neurol , vol.20 , pp. 722-727
    • Hagberg, B.1
  • 34
    • 33644810460 scopus 로고    scopus 로고
    • p.R270X MECP2 mutation and mortality in Rett syndrome
    • L. Jian, H.L. Archer, D. Ravine, and et al. p.R270X MECP2 mutation and mortality in Rett syndrome Eur J Hum Genet 13 2005 1235 1238
    • (2005) Eur J Hum Genet , vol.13 , pp. 1235-1238
    • Jian, L.1    Archer, H.L.2    Ravine, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.