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Rett syndrome in Sweden. Neurodevelopment--disability--pathophysiology
1Department of Paediatrics II, Göteborg University, Sweden.
Acta Paediatrica Scandinavica. Supplement
|January 1, 1990
Summary
This study defines Rett syndrome (RS) in Sweden, developing a clinical staging system and identifying early patterns. While subtle early signs exist, predictive manifestations for diagnosis were not found.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Rett syndrome (RS) is a complex neuromotor disorder affecting young girls, with clinical recognition emerging in the mid-1980s.
- Clinical experiences with RS in Austria and Sweden date back to the 1960s.
- A nationwide study was initiated in Sweden to better understand RS.
Purpose of the Study:
- To define the core group of Rett syndrome (RS) patients in Sweden.
- To develop and evaluate a clinical staging system for disease progression.
- To identify early developmental patterns, their predictive value, and neurophysiologic correlates.
Main Methods:
- A 6-year nationwide search (1984-1990) involved information programs, tracing, and neuropediatric examinations.
- 105 females with RS, aged 19 months to 44 years, were included, representing the nucleus group in Sweden.
- A clinical staging system was developed and evaluated on 29 patients (aged 13-28 years).
Main Results:
- 97/105 (92.3%) fulfilled criteria for classic RS; 8 (7.7%) had 'formes frustes'.
- The prevalence of classic RS in southwest Sweden was estimated at 1:12,000-13,000 girls.
- The developed clinical staging system proved valuable for assessment and research, becoming internationally accepted.
Conclusions:
- Characteristic neuromotor and neurobehavioral patterns aid early suspicion of RS.
- Subtle signs may indicate the disorder in early infancy, but predictive clinical manifestations were not identified.
- The study established a representative cohort and a widely adopted staging system for Rett syndrome research.