Trends in diagnosis of Rett Syndrome in Australia
MetadataShow full item record
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).
Showing items related by title, author, creator and subject.
Atypical Presentations and Specific Genotypes Are Associated With a Delay in Diagnosis in Females With Rett SyndromeFehr, S.; Downs, Jennepher; Bebbington, A.; Leonard, H. (2010)There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. We hypothesized that girls with an atypical presentation or whose ...
Barriers to Diagnosis of a Rare Neurological Disorder in China-Lived Experiences of Rett Syndrome FamiliesLim, F.; Downs, Jennepher; Li, Jianghong; Bao, X.; Leonard, H. (2012)Rett syndrome is a rare neurological disorder affecting girls and usually caused by a mutation on the MECP2 gene. It is estimated that approximately 1,000 girls are born every year in China with Rett syndrome but far fewer ...
Barriers to diagnosis of a rare neurological disorder in China - Lived experiences of Rett Syndrome familiesLim, F.; Downs, Jennepher; Li, Jianghong; Bao, X.; Leonard, H. (2012)Rett syndrome is a rare neurological disorder affecting girls and usually caused by a mutation on the MECP2 gene. It is estimated that approximately 1,000 girls are born every year in China with Rett syndrome but far fewer ...