Trends in the Diagnosis of Rett Syndrome in Australia

Overview

Journal Pediatr Res

Specialties Biology
Pediatrics

Date 2011 May 19

PMID 21587099

Citations 55

Authors

Stephanie Fehr

Ami Bebbington

Natasha Nassar

Jenny Downs

Gabriel M Ronen

Nicholas de Klerk

Helen Leonard

Affiliations

Soon will be listed here.

Abstract

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis. The trends in incidence and prevalence of Rett syndrome in Australia were examined; the cumulative risk of a female being diagnosed was determined; and the impact of changes to diagnostic criteria and availability of genetic testing on these frequencies was investigated. The population-based Australian Rett Syndrome Database was used to identify a total of 349 verified Rett syndrome females born 1976-2006 and diagnosed 1982-2008. The proportion of female cases born and diagnosed per year and the cumulative risk of a diagnosis were determined. The median age of Rett syndrome diagnosis decreased from 4.5 y if diagnosed before 2000 to 3.5 y if diagnosed after 1999. The cumulative risk of diagnosis had almost doubled by 32 y of age [1/8,905 or 11.23 per 100,000 person-years (95% CI, 10.03-12.45)] in comparison with 5 y of age [1/15,361 or 6.51 per 100,000 person-years (95% CI, 5.65-7.39)]. Earlier age of diagnosis may result in families experiencing less stress and emotional strain compared with those with delayed diagnosis.

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References

Neul J, Kaufmann W, Glaze D, Christodoulou J, Clarke A, Bahi-Buisson N . Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010; 68(6):944-50. PMC: 3058521. DOI: 10.1002/ana.22124. View

Pini G, Milan M, Zappella M . Rett syndrome in northern Tuscany (Italy): family tree studies. Clin Genet. 1996; 50(6):486-90. DOI: 10.1111/j.1399-0004.1996.tb02718.x. View

Amir R, Fang P, Yu Z, Glaze D, Percy A, Zoghbi H . Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet. 2005; 42(2):e15. PMC: 1735975. DOI: 10.1136/jmg.2004.026161. View

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R . 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(14):1935-46. DOI: 10.1093/hmg/ddi198. View

Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli M, Spanhol-Rosseto A . FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet. 2008; 83(1):89-93. PMC: 2443837. DOI: 10.1016/j.ajhg.2008.05.015. View

Burd L, Vesley B, Martsolf J, Kerbeshian J . Prevalence study of Rett syndrome in North Dakota children. Am J Med Genet. 1991; 38(4):565-8. DOI: 10.1002/ajmg.1320380414. View

Suzuki H, Hirayama Y, Arima M . [Prevalence of Rett syndrome in Tokyo]. No To Hattatsu. 1989; 21(5):430-3. View

Kozinetz C, Skender M, MacNaughton N, Almes M, Schultz R, Percy A . Epidemiology of Rett syndrome: a population-based registry. Pediatrics. 1993; 91(2):445-50. View

Hagberg B . Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet Suppl. 1986; 1:47-59. DOI: 10.1002/ajmg.1320250506. View

10.

Zappella M, Gillberg C, Ehlers S . The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases. J Autism Dev Disord. 1999; 28(6):519-26. DOI: 10.1023/a:1026052128305. View

11.

Hagberg B, Skjeldal O . Rett variants: a suggested model for inclusion criteria. Pediatr Neurol. 1994; 11(1):5-11. DOI: 10.1016/0887-8994(94)90082-5. View

12.

Nassar N, Dixon G, Bourke J, Bower C, Glasson E, de Klerk N . Autism spectrum disorders in young children: effect of changes in diagnostic practices. Int J Epidemiol. 2009; 38(5):1245-54. DOI: 10.1093/ije/dyp260. View

13.

Hagberg B . Rett syndrome: epidemiology and nosology--progress in knowledge 1986--a conference communication. Brain Dev. 1987; 9(5):451-7. DOI: 10.1016/s0387-7604(87)80062-1. View

14.

Boltshauser E, Kunzle C . Prevalence of Rett syndrome in Switzerland. Helv Paediatr Acta. 1987; 42(5-6):407-11. View

15.

Talvik T, Soot A, Beilmann A, Soopold T, Nurk K . Rett syndrome in Estonia: prevalence of the classical phenotype. Acta Paediatr. 1995; 84(9):1070-1. DOI: 10.1111/j.1651-2227.1995.tb13827.x. View

16.

Bienvenu T, Philippe C, de Roux N, Raynaud M, Bonnefond J, Pasquier L . The incidence of Rett syndrome in France. Pediatr Neurol. 2006; 34(5):372-5. DOI: 10.1016/j.pediatrneurol.2005.10.013. View

17.

Kerr A, Stephenson J . Rett's syndrome in the west of Scotland. Br Med J (Clin Res Ed). 1985; 291(6495):579-82. PMC: 1418200. DOI: 10.1136/bmj.291.6495.579. View

18.

Amir R, Van den Veyver I, Wan M, Tran C, Francke U, Zoghbi H . Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999; 23(2):185-8. DOI: 10.1038/13810. View

19.

Erlandson A, Samuelsson L, Hagberg B, Kyllerman M, Vujic M, Wahlstrom J . Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet Test. 2004; 7(4):329-32. DOI: 10.1089/109065703322783707. View

20.

Zappella M, Cerioli M . High prevalence of Rett syndrome in a small area. Brain Dev. 1987; 9(5):479-80. DOI: 10.1016/s0387-7604(87)80068-2. View