The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC)
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Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder associated with a wide range of physical features and very high rates of numerous neurocognitive manifestations. However, there is great variability of expression of these features and understanding of the mechanisms underlying this variability is still limited. Mental retardation (MR) and male gender are known to be associated with increased risks of psychopathologies in the general population, but no study has examined these subgroups in TSC as possible contributors to the variable expression observed. It has also remained unclear whether familial-sporadic differences may contribute to variable expression. In this postal survey, UK families reported the frequency and range of physical and behavioural abnormalities in 265 children and adolescents with TSC. Analysis revealed no gender or familial-sporadic differences. Children with MR were significantly more likely to have an autism spectrum disorder, attention deficit-related symptoms and speech and language difficulties. They were more likely to have a history of epilepsy, facial angiofibromata and shagreen patches and tended to have a greater number of physical features of the disorder. However, about one third of the children without MR had features suggestive of a developmental disorder. Anxiety symptoms, depressed mood and aggressive outbursts occurred at equally high rates in those with and without MR. These findings show that TSC can place any child or adolescent at significantly increased risk of a range of neurodevelopmental disabilities. These difficulties, often not recognised, require significant clinical and research attention.
Keywordsautism spectrum disorders disruptive behaviour disorders behavioural phenotype cognition variability of expression
This survey was undertaken with financial support from the Tuberous Sclerosis Association (TSA), a grant from the Hayward Foundation and the Anglia and Oxford NHS R&D fund. PdV was, in addition, supported by scholarships from the Raymond and Beverly Sackler Fund and the Cambridge Commonwealth Trust. The authors also thank Maria Boyiatzi for undertaking data entering, and Deborah McCartney and Prof. Christopher Howe for helpful comments on earlier drafts. This paper is dedicated to the memory of Janet Medcalf, who was Head of Support Services of the TSA at the time of the study.
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