Trends in diagnosis of Rett Syndrome in Australia
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...
| Main Authors: | , , , , , , |
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| Format: | Journal Article |
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Wolters Kluwer Health
2011
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| Online Access: | http://hdl.handle.net/20.500.11937/4624 |
| _version_ | 1848744568949833728 |
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| author | Fehr, S. Bebbington, A. Nassar, N. Downs, Jennepher Ronen, G. de Klerk, N. Leonard, H. |
| author_facet | Fehr, S. Bebbington, A. Nassar, N. Downs, Jennepher Ronen, G. de Klerk, N. Leonard, H. |
| author_sort | Fehr, S. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. (Pediatr Res 70: 313–319, 2011). |
| first_indexed | 2025-11-14T06:03:32Z |
| format | Journal Article |
| id | curtin-20.500.11937-4624 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T06:03:32Z |
| publishDate | 2011 |
| publisher | Wolters Kluwer Health |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-46242017-03-08T13:12:19Z Trends in diagnosis of Rett Syndrome in Australia Fehr, S. Bebbington, A. Nassar, N. Downs, Jennepher Ronen, G. de Klerk, N. Leonard, H. 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. (Pediatr Res 70: 313–319, 2011). 2011 Journal Article http://hdl.handle.net/20.500.11937/4624 Wolters Kluwer Health restricted |
| spellingShingle | Fehr, S. Bebbington, A. Nassar, N. Downs, Jennepher Ronen, G. de Klerk, N. Leonard, H. Trends in diagnosis of Rett Syndrome in Australia |
| title | Trends in diagnosis of Rett Syndrome in Australia |
| title_full | Trends in diagnosis of Rett Syndrome in Australia |
| title_fullStr | Trends in diagnosis of Rett Syndrome in Australia |
| title_full_unstemmed | Trends in diagnosis of Rett Syndrome in Australia |
| title_short | Trends in diagnosis of Rett Syndrome in Australia |
| title_sort | trends in diagnosis of rett syndrome in australia |
| url | http://hdl.handle.net/20.500.11937/4624 |