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Volumn 39, Issue 4, 2008, Pages 205-210

Gross motor profile in rett syndrome as determined by video analysis

Author keywords

Gross motor function; MECP2 mutation; Mobility; Movement disorder; Phenotype; Rett syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; FUNCTIONAL ASSESSMENT; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MEDICAL INFORMATION; MOTOR PERFORMANCE; PRIORITY JOURNAL; RETT SYNDROME; SCOLIOSIS; SKILL; SPINAL CORD SURGERY; STEREOTYPY; STRATEGIC PLANNING; VIDEORECORDING;

EID: 59849099417     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0028-1104575     Document Type: Article
Times cited : (51)

References (32)
  • 1
    • 33750717559 scopus 로고    scopus 로고
    • Predictors of scoliosis in Rett syndrome
    • Ager S, Fyfe S, Christodoulou J et al. Predictors of scoliosis in Rett syndrome. J Child Neurol 2006; 21: 809-813
    • (2006) J Child Neurol , vol.21 , pp. 809-813
    • Ager, S.1    Fyfe, S.2    Christodoulou, J.3
  • 2
    • 0032830639 scopus 로고    scopus 로고
    • Amir RE, Veyver IB Van den, Wan M et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 185-188
    • Amir RE, Veyver IB Van den, Wan M et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 185-188
  • 4
    • 40549110266 scopus 로고    scopus 로고
    • Investigating genotype-phenotype relationships in Rett syndrome using an international data set
    • Bebbington A, Anderson A, Ravine D et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 2008; 70: 868-875
    • (2008) Neurology , vol.70 , pp. 868-875
    • Bebbington, A.1    Anderson, A.2    Ravine, D.3
  • 5
    • 0037404490 scopus 로고    scopus 로고
    • Findings from a multidisciplinary clinical case series of females with Rett syndrome
    • Cass H, Reilly S, Owen L et al. Findings from a multidisciplinary clinical case series of females with Rett syndrome. Dev Med Child Neurol 2003; 45: 325-337
    • (2003) Dev Med Child Neurol , vol.45 , pp. 325-337
    • Cass, H.1    Reilly, S.2    Owen, L.3
  • 6
    • 27144553171 scopus 로고    scopus 로고
    • Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome
    • Charman T, Neilson TCS, Mash V et al. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. Eur J Hum Genet 2005; 13: 1121-1130
    • (2005) Eur J Hum Genet , vol.13 , pp. 1121-1130
    • Charman, T.1    Neilson, T.C.S.2    Mash, V.3
  • 7
    • 0037235315 scopus 로고    scopus 로고
    • Describing the phenotype in Rett syndrome using a population database
    • Colvin L, Fyfe S, Leonard S et al. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 2003; 88: 38-43
    • (2003) Arch Dis Child , vol.88 , pp. 38-43
    • Colvin, L.1    Fyfe, S.2    Leonard, S.3
  • 8
    • 1642482969 scopus 로고    scopus 로고
    • Colvin L, Leonard H, Klerk N de et al. Refining the phenotype of common mutations in Rett syndrome. J Med Genet 2004; 41: 25-30
    • Colvin L, Leonard H, Klerk N de et al. Refining the phenotype of common mutations in Rett syndrome. J Med Genet 2004; 41: 25-30
  • 9
    • 0024996063 scopus 로고
    • Rett syndrome and associated movement disorders
    • FitzGerald PM, Jankovic J, Percy AK. Rett syndrome and associated movement disorders. Mov Disord 1990; 5: 195-202
    • (1990) Mov Disord , vol.5 , pp. 195-202
    • FitzGerald, P.M.1    Jankovic, J.2    Percy, A.K.3
  • 10
    • 34748870106 scopus 로고    scopus 로고
    • Development of a video-based evaluation tool in Rett syndrome
    • Fyfe S, Downs J, MacIlroy O et al. Development of a video-based evaluation tool in Rett syndrome. J Autism Dev Disord 2007; 37: 1636-1646
    • (2007) J Autism Dev Disord , vol.37 , pp. 1636-1646
    • Fyfe, S.1    Downs, J.2    MacIlroy, O.3
  • 11
    • 0036270792 scopus 로고    scopus 로고
    • Clinical manifestations and stages of Rett syndrome
    • Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002; 8: 61-65
    • (2002) Ment Retard Dev Disabil Res Rev , vol.8 , pp. 61-65
    • Hagberg, B.1
  • 12
    • 27144499320 scopus 로고    scopus 로고
    • Rett syndrome: Long-term clinical follow-up experiences over four decades
    • Hagberg B. Rett syndrome: Long-term clinical follow-up experiences over four decades. J Child Neurol 2005; 20: 722-727
    • (2005) J Child Neurol , vol.20 , pp. 722-727
    • Hagberg, B.1
  • 13
    • 0036996531 scopus 로고    scopus 로고
    • Rett females: Patterns of characteristic side-asymmetric neuroimpairments at long-term follow-up
    • Hagberg B, Romell M. Rett females: Patterns of characteristic side-asymmetric neuroimpairments at long-term follow-up. Neuropediatrics 2002; 33: 324-326
    • (2002) Neuropediatrics , vol.33 , pp. 324-326
    • Hagberg, B.1    Romell, M.2
  • 14
    • 0025270017 scopus 로고
    • Motor disabilities in the Rett syndrome and physical therapy strategies
    • Hanks SB. Motor disabilities in the Rett syndrome and physical therapy strategies. Brain Dev 1990; 12: 157-161
    • (1990) Brain Dev , vol.12 , pp. 157-161
    • Hanks, S.B.1
  • 15
    • 0036083275 scopus 로고    scopus 로고
    • Influence of mutation type and location on phenotype in 123 patients with Rett syndrome
    • Huppke P, Held M, Handefeld F et al. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuro-pediatrics 2002; 33: 63-68
    • (2002) Neuro-pediatrics , vol.33 , pp. 63-68
    • Huppke, P.1    Held, M.2    Handefeld, F.3
  • 16
    • 0038354500 scopus 로고    scopus 로고
    • The spectrum of phenotypes in females with Rett Syndrome
    • Huppke P, Held M, Laccone F et al. The spectrum of phenotypes in females with Rett Syndrome. Brain Dev 2003; 25: 346-351
    • (2003) Brain Dev , vol.25 , pp. 346-351
    • Huppke, P.1    Held, M.2    Laccone, F.3
  • 17
    • 33644810460 scopus 로고    scopus 로고
    • p.R270X MECP2 mutation and mortality in Rett syndrome
    • Jian L, Archer HL, Ravine D et al. p.R270X MECP2 mutation and mortality in Rett syndrome. Eur J Hum Genet 2005; 13: 1235-1238
    • (2005) Eur J Hum Genet , vol.13 , pp. 1235-1238
    • Jian, L.1    Archer, H.L.2    Ravine, D.3
  • 18
    • 33749127889 scopus 로고    scopus 로고
    • Jian L, Nagarajan L, Klerk N de et al. Predictors of seizure onset in Rett syndrome. J Pediatr 2006; 149: 542-547
    • Jian L, Nagarajan L, Klerk N de et al. Predictors of seizure onset in Rett syndrome. J Pediatr 2006; 149: 542-547
  • 19
    • 0035015196 scopus 로고    scopus 로고
    • Guidelines for reporting clinical features in cases with MECP2 mutations
    • Kerr AM, Nomura Y, Armstrong D et al. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 2001; 23: 208-211
    • (2001) Brain Dev , vol.23 , pp. 208-211
    • Kerr, A.M.1    Nomura, Y.2    Armstrong, D.3
  • 20
    • 27144548425 scopus 로고    scopus 로고
    • Predictive value of the early clinical signs in Rett disorder
    • Kerr AM, Prescott RJ. Predictive value of the early clinical signs in Rett disorder. Brain Dev 2005; 27 (Suppl 1): S20-S24
    • (2005) Brain Dev , vol.27 , Issue.SUPPL. 1
    • Kerr, A.M.1    Prescott, R.J.2
  • 21
    • 27144514671 scopus 로고    scopus 로고
    • Rett syndrome from a family perspective: The Swedish Rett Center survey
    • Larsson G, Lindstrom B, Witt Engerstrom I. Rett syndrome from a family perspective: The Swedish Rett Center survey. Brain Dev 2005; 27: S14-S19
    • (2005) Brain Dev , vol.27
    • Larsson, G.1    Lindstrom, B.2    Witt Engerstrom, I.3
  • 22
    • 0035196129 scopus 로고    scopus 로고
    • Gross motor ability in Rett syndrome - the power of expectation, motivation and planning
    • Larsson G, Witt Engerstrom I. Gross motor ability in Rett syndrome - the power of expectation, motivation and planning. Brain Dev 2001; 23: S77-S81
    • (2001) Brain Dev , vol.23
    • Larsson, G.1    Witt Engerstrom, I.2
  • 23
    • 33646010905 scopus 로고    scopus 로고
    • Laurvick CL, Klerk N de, Bower C et al. Rett syndrome in Australia: a review of the epidemiology. J Pediatr 2006; 148: 347-352
    • Laurvick CL, Klerk N de, Bower C et al. Rett syndrome in Australia: a review of the epidemiology. J Pediatr 2006; 148: 347-352
  • 25
    • 0042278588 scopus 로고    scopus 로고
    • Patients with the R133C mutation: Is their phenotype different from patients with Rett syndrome with other mutations?
    • Leonard H, Colvin L, Christodoulou J et al. Patients with the R133C mutation: Is their phenotype different from patients with Rett syndrome with other mutations? J Med Genet 2003; 40: e52
    • (2003) J Med Genet , vol.40
    • Leonard, H.1    Colvin, L.2    Christodoulou, J.3
  • 26
    • 0028338521 scopus 로고
    • The Functional Independence Measure for Children (WeeFIM). Conceptual basis and pilot use in children with developmental disabilities
    • Msall ME, DiGaudio K, Rogers BT et al. The Functional Independence Measure for Children (WeeFIM). Conceptual basis and pilot use in children with developmental disabilities. Clin Pediatr 1994; 33: 421-430
    • (1994) Clin Pediatr , vol.33 , pp. 421-430
    • Msall, M.E.1    DiGaudio, K.2    Rogers, B.T.3
  • 27
    • 42249095974 scopus 로고    scopus 로고
    • Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome
    • Neul JL, Fang P, Borrish J et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008; 70: 1313-1321
    • (2008) Neurology , vol.70 , pp. 1313-1321
    • Neul, J.L.1    Fang, P.2    Borrish, J.3
  • 28
    • 1842429102 scopus 로고    scopus 로고
    • Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome
    • Schanen C, Houwink EJ, Dorrani N et al. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet A 2004; 126: 129-140
    • (2004) Am J Med Genet A , vol.126 , pp. 129-140
    • Schanen, C.1    Houwink, E.J.2    Dorrani, N.3
  • 29
    • 19944427298 scopus 로고    scopus 로고
    • Rett syndrome in females with CTS hot spot deletions: A disorder profile
    • Smeets E, Terhal P, Casaer P et al. Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A 2005; 132: 117-120
    • (2005) Am J Med Genet A , vol.132 , pp. 117-120
    • Smeets, E.1    Terhal, P.2    Casaer, P.3
  • 30
    • 59849100550 scopus 로고    scopus 로고
    • StataCorp. Stata Statistical Software In: 9.0 R, editor. College Station. Texas: Stata Corporation; 2005
    • StataCorp. Stata Statistical Software In: 9.0 R, editor. College Station. Texas: Stata Corporation; 2005
  • 32
    • 0023577798 scopus 로고
    • Rett syndrome: A retrospective pilot study on potential early predictive symptomatology
    • Witt Engerstrom I. Rett syndrome: A retrospective pilot study on potential early predictive symptomatology. Brain Dev 1987; 9: 481-486
    • (1987) Brain Dev , vol.9 , pp. 481-486
    • Witt Engerstrom, I.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.