Tuberous sclerosis in Western Sweden. A population study of cases with early childhood onset
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G Ahlsén1, I C Gillberg, R Lindblom
1Child Neuropsychiatry Clinic, University of Göteborg, Sweden.
Insights
The prevalence of tuberous sclerosis (TSC) in children and adolescents aged 11-15 in Sweden was found to be 1 in 6800. Overall prevalence in individuals aged 0-20 was 1 in 12,900.
Area of Science:
- Medical Genetics
- Pediatrics
- Epidemiology
Background:
- Tuberous sclerosis (TSC) is a genetic disorder affecting multiple organs.
- Accurate prevalence data is crucial for understanding disease burden and resource allocation.
Purpose of the Study:
- To determine the prevalence of tuberous sclerosis in children and adolescents.
- To compare findings with existing literature on TSC prevalence.
Main Methods:
- Utilized established diagnostic criteria for tuberous sclerosis.
- Employed a screening questionnaire distributed to physicians in western Sweden.
- Conducted a population-based study within a defined geographic area.
Main Results:
- Peak prevalence of TSC observed in the 11- to 15-year-old age group at 1 in 6800.
- Overall prevalence for the 0- to 20-year age cohort was determined to be 1 in 12,900.
- The reported prevalence for the school-age group is the highest documented in TSC literature.
Conclusions:
- The study highlights a significant prevalence of tuberous sclerosis in school-aged children.
- The true prevalence of TSC in the general population may be underestimated by this study.
- Further research is needed to ascertain the complete prevalence of TSC.
Objective:
To study the prevalence of tuberous sclerosis in children and adolescents.
Design:
Previously published diagnostic criteria for tuberous sclerosis were used. All physicians likely to encounter young patients with tuberous sclerosis were contacted by way of a screening questionnaire.
Setting:
The study was performed in a circumscribed geographic area (western Sweden).
Patients And Other Participants:
The sample was population based. However, only patients with such severe and early symptoms that referral to a physician had been considered necessary and relatives of these patients with tuberous sclerosis could be included. This was because there is currently no diagnostic marker for tuberous sclerosis that could be used as a screening tool.
Results:
The peak prevalence (one in 6800 individuals) for tuberous sclerosis was found in the 11- to 15-year-old age group. For the whole age cohort, 0 to 20 years, the prevalence was one in 12,900 individuals.
Conclusions:
The prevalence for the school-age group was the highest ever reported in the literature on tuberous sclerosis. However, it is likely that the true prevalence of tuberous sclerosis in the general population is even higher.
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