Intellectual abilities in tuberous sclerosis complex: risk factors and correlates from the Tuberous Sclerosis 2000 Study.
| Autor: | Bolton, P. F., Clifford, M., Tye, C., Maclean, C., Humphrey, A., le Maréchal, K., Higgins, J. N. P., Neville, B. G. R., Rijsdjik, F., Yates, J. R. W. |
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| Předmět: |
BRAIN
RADIOGRAPHY TUBEROUS sclerosis AGE factors in disease ANALYSIS of variance EPILEPSY INTELLECT INTERVIEWING LONGITUDINAL method PEOPLE with intellectual disabilities MULTIVARIATE analysis GENETIC mutation RESEARCH funding STATISTICS T-test (Statistics) WECHSLER Adult Intelligence Scale PHENOTYPES DATA analysis STRUCTURAL equation modeling SEVERITY of illness index DATA analysis software MEDICAL coding MANN Whitney U Test GENOTYPES DISEASE risk factors |
| Zdroj: | Psychological Medicine; Aug2015, Vol. 45 Issue 11, p2321-2331, 11p |
| Abstrakt: | Background. Tuberous sclerosis complex (TSC) is associated with intellectual disability, but the risk pathways are poorly understood. Method. The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of the natural history of TSC. One hundred and twenty-five UK children age 0-16 years with TSC and born between January 2001 and December 2006 were studied. Intelligence was assessed using standardized measures at ≥2 years of age. The age of onset of epilepsy, the type of seizure disorder, the frequency and duration of seizures, as well as the response to treatment was assessed at interview and by review of medical records. The severity of epilepsy in the early years was estimated using the EChess score. Genetic studies identified the mutations and the number of cortical tubers was determined from brain scans. Results. TSC2 mutations were associated with significantly higher cortical tuber count than TSC1 mutations. The extent of brain involvement, as indexed by cortical tuber count, was associated with an earlier age of onset and severity of epilepsy. In turn, the severity of epilepsy was strongly associated with the degree of intellectual impairment. Structural equation modelling supported a causal pathway from genetic abnormality to cortical tuber count to epilepsy severity to intellectual outcome. Infantile spasms and status epilepticus were important contributors to seizure severity. Conclusions. The findings support the proposition that severe, early onset epilepsy may impair intellectual development in TSC and highlight the potential importance of early, prompt and effective treatment or prevention of epilepsy in tuberous sclerosis. [ABSTRACT FROM AUTHOR] |
| Databáze: | Complementary Index |
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