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. 2011 Sep;70(3):313-9.
doi: 10.1203/PDR.0b013e3182242461.

Trends in the diagnosis of Rett syndrome in Australia

Stephanie Fehr  1 , Ami Bebbington, Natasha Nassar, Jenny Downs, Gabriel M Ronen, Nicholas DE Klerk, Helen Leonard
Affiliations

Trends in the diagnosis of Rett syndrome in Australia

Stephanie Fehr et al. Pediatr Res. 2011 Sep.

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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Figures

FIGURE 1
FIGURE 1
The birth prevalence of classical and atypical Rett syndrome in Australia between 1976 and 2006 in those diagnosed between 1982 and 2008-smoothed over two years. ■: birth prevalence of girls with classical Rett syndrome; ✱: birth prevalence of girls with atypical Rett syndrome.
FIGURE 2
FIGURE 2
Age-group specific birth prevalence of Rett syndrome cases born between 1976 and 2006 and diagnosed between 1982 and 2008 -smoothed over two years. ■: cases diagnosed between 0-3 years of age; ▲: 4-7 years of age; ✱: 8-11 years of age; ◆: over 12 years of age.
FIGURE 3
FIGURE 3
The rate of Rett Syndrome diagnosis in Australia between 1982 and 2008 for girls born between 1976 and 2006
FIGURE 4
FIGURE 4
The age-group specific yearly diagnosis of Rett syndrome cases born between 1976 and 2006 and diagnosed between 1982 and 2008-smoothed over two years. ■: cases diagnosed between 0-3 years of age; ▲: 4-7 years of age; ✱: 8-11 years of age; ◆: over 12 years of age.
FIGURE 5
FIGURE 5
Cumulative risk of obtaining a diagnosis of Rett syndrome. ■: cumulative risk of receiving a diagnosis of Rett syndrome before 2000; ▲: overall cumulative risk of diagnosis; ✱: cumulative risk of diagnosis after 1999.
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