« Previous
Next »
The Journal of Pediatrics
Volume 148, Issue 3
, Pages 347-352
, March 2006
Rett syndrome in Australia: A review of the epidemiology
References
-
.
Uber ein eigenartiges hirnatrophisches syndrom bei hyperammonaemie in Kindesalter. Wien med
.
Wochenschr
. 1966;116:723–738
- . A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases . Ann Neurol . 1983;14:471–479
- . Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2 . Nat Genet . 1999;23:185–188
- Rett syndrome (the complex nature of a monogenic disease) . J Mol Med . 2003;81:346–354
-
Refining the phenotype of common mutations in Rett syndrome
.
J Med Genet
. 2004;41:25–30
- Long-read sequence analysis of the MECP2 gene in Rett syndrome patients (correlation of disease severity with mutation type and location) . Hum Mol Genet . 2000;9:1119–1129
- . Rett syndrome (methyl-CpG-binding protein 2 mutations and phenotype- genotype correlations) . Am J Med Genet . 2000;97:147–152
- . Rett syndrome (analysis of MECP2 and clinical characterization of 31 patients) . Hum Mol Genet . 2000;9:1369–1375
-
Patients with the R133C mutation
(is their phenotype different from Rett syndrome patients with other mutations?)
.
J Med Genet
. 2003;40:e52
- . Associations between meCP2 mutations, x-chromosome inactivation, and phenotype . Ment Retard Dev Disabil Res Rev . 2002;8:99–105
- . The spectrum of phenotypes in females with Rett syndrome . Brain Dev . 2003;25:346–351
-
.
The prevalence and incidence of Rett syndrome in Australia
.
Eur Child Adolesc Psych
. 1997;6:8–10
- . Rett’s syndrome (prevalence and impact on progressive severe mental retardation in girls) . Acta Paediatr Scand . 1985;74:405–408
- . Rett’s syndrome in the west of Scotland . BMJ . 1985;291:579–582
- . Rett syndrome: epidemiology and nosology. Progress in Knowledge 1986 (conference communication) . Brain Dev . 1987;9:451–457
-
.
A study of the natural history of Rett syndrome in 23 girls
.
Am J Med Genet
. 1986;24(suppl 1):77–83
- . Prevalence of Rett syndrome in Switzerland . Helv Paediatr Acta . 1987;42:407–411
- Multi-institutional survey of Rett syndrome in Japan . Brain Dev . 1990;12:753–759
-
.
Prevalence of Rett syndrome in Tokyo
.
No To Hattatsu (Tokyo)
. 1989;21:430–433
- . Prevalence study of Rett syndrome in North Dakota children . Am J Med Genet . 1991;38:565–568
- Epidemiology of Rett syndrome (a population-based registry) . Pediatrics . 1993;91:445–450
- . Rett syndrome in Estonia (prevalence of the classical phenotype) . Acta Paediatr . 1995;84:1070–1071
- . Rett syndrome – geographic variation in prevalence in Norway . Brain Dev . 1997;19:258–261
-
.
The Swedish Rett syndrome series updated March 1996. Geographical distribution at ages 3-19 years
.
Eur Child Adult Psych
. 1997;6:12–13
-
.
Rett syndrome in Australia
. Perth, Western Australia: Master of Public Health; 1996;
- Evaluation of a national surveillance unit . Arch Dis Child . 1999;80:21–27
- . The Rett Syndrome Diagnostic Criteria Work Group . Ann Neurol . 1988;23:425–428
- . Clinical delineation of Rett syndrome variants . Neuropediatrics . 1995;26:62
- Describing the phenotype in Rett syndrome using a population database . Arch Dis Child . 2003;88:38–43
- . 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; September 11, 2001; Baden Baden, Germany . Eur J Paediatr Neurol . 2002;6:293–297
- Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype . Am J Med Genet . 2003;118A:103–114
-
Australian Bureau of Statistics. Population by Age and Sex, Australian States and Territories (June 1971–June 2004). Table 9: Estimated resident population by single year of age, Australia. ABS catalogue no: 3201.0. Canberra (ACT). Last modified March 18, 2005.
-
.
Nonparametric estimation from incomplete observations
.
J Am Stat Assoc
. 1958;26:227–237
-
Australian Institute of Health and Welfare. National death index (deaths from 1980 to present). Available online at http://www.aihw.gov.au/cancer/ndi/index.cfm; 2005.
-
.
Stata Statistical Software
. College Station, Texas: Stata Corporation; 1997;
-
.
Population, Australian State and Territories–electronic delivery (catalogue no. 3239.0.55.001)
. 2004;
- The p.R270X MECP2 mutation and mortality in Rett syndrome . Eur J Hum Genet . 2005;13:1235–1238
-
.
3105.0.65.01 Australian Historical Population Statistics
. 2004;
Probability of dying between exact age x and exact age x+1, females (qx), Australia, 1881 onwards. Available online at http://www.abs.gov.au/Ausstats/abs@.nsf/lookupresponses/70b42622ffb5f634ca256f200002577b?opendocument
- . Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients . Genet Test . 2003;7:329–332
- . Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls . Eur J Hum Genet . 2005;13:124–126
-
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
.
J Med Genet
. 2005;42:e15
- Survival in a large cohort of US girls and women with Rett syndrome . J Child Neurol . 1993;8:101–102 Abstract
- . Rett syndrome (clinical review and genetic update) . J Med Genet . 2005;42:1–7
- . Molecular and neurobiology aspects of Rett syndrome . Neuropediatrics . 1995;26:60–61
Supported by the National Institute of Child Health and Human Development under National Institutes of Health grant 1 R01 HD43100-01A1. Helen Leonard is funded by NHMRC program grant 353514, Dr Carol Bower by NHMRC fellowship 353628, and Dr John Christodoulo by NHMRC project grants 185202 and 346603.
PII: S0022-3476(05)01030-9
doi: 10.1016/j.jpeds.2005.10.037
© 2006 Elsevier Inc. All rights reserved.
« Previous
Next »
The Journal of Pediatrics
Volume 148, Issue 3
, Pages 347-352
, March 2006
