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Multi-institutional survey of the Rett syndrome in Japan
N Oguro1, M Momoi, T Nakamigawa
1Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Insights
This study reports the first multi-institutional survey of Rett syndrome in Japan, confirming 54 cases. Findings indicate no familial links or increased perinatal abnormalities in affected individuals.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Rett syndrome is a rare neurodevelopmental disorder.
- Limited epidemiological data exists for Rett syndrome in Japan.
Purpose of the Study:
- To conduct the first multi-institutional survey of Rett syndrome in Japan.
- To characterize the clinical and epidemiological features of Rett syndrome in a Japanese cohort.
Main Methods:
- A survey was conducted between 1985 and 1986.
- Eighty-nine suspected cases were collected, with 54 confirmed diagnoses.
- Patient ages ranged from 1 to 26 years.
Main Results:
- Fifty-four cases of Rett syndrome were confirmed.
- Clinical onset occurred after 18 months in 28 cases and before 1 year in 26 cases.
- No familial cases or consanguinity were identified; perinatal abnormalities were not significantly elevated.
Conclusions:
- This survey provides initial epidemiological data on Rett syndrome in Japan.
- The findings suggest Rett syndrome in this cohort does not have a significant familial or perinatal component.
Abstract:
The results of the first multi-institutional survey of the Rett syndrome in Japan are reported. The survey was performed during 1985 and 1986. Eighty-nine cases were collected, of which 54 cases were confirmed to have the Rett syndrome. The ages of the patients ranged between 1 and 26 years. The clinical onsets occurred after 18 months of age in 28 cases, and before the age of one year in 26. No familial cases nor consanguinity was found. The incidence of perinatal abnormalities among the patients was not significantly higher than in other diseases in which no perinatal factors are involved.