부산대학교 도서관

Tuberous Sclerosis (TSC) is a genetic disorder characterised by abnormal growths in a wide range of organs. In the brain, abnormalities of differentiation, proliferation and migration can produce a range of neuropsychiatric features such as mental retardation, autism and ADHD. Although these manifestations are not diagnostic of the disorder, cognitive and behavioural features are often of greatest concern to families yet limited clinical assessment and interventions are currently offered. A consensus panel at a TSC Brain/Behaviour workshop recommended that the cognitive and behavioural profiles of individuals with TSC should be assessed at regular intervals in a planned fashion in accordance with the difficulties associated with the disorder. Evaluations should include the use of standardised neuropsychological and behavioural tools as appropriate to the age and developmental level of the individual assessed. These cognitive and behavioural profiles should be incorporated in the overall formulation of the needs of the person with TSC to plan educational, social and clinical management strategies. Assessments should be documented so that individual longitudinal progress can be monitored. The paper outlines the problems associated with TSC, the purpose of recommended assessments, developmentally appropriate stages for assessment, and identifies specific areas that should be targeted for assessment. [ABSTRACT FROM AUTHOR]