Tuberous sclerosis complex: clinical features and caregiver information needs in Taiwan
Date Issued
2008
Date
2008
Author(s)
Kuo, Shu-Ya
Abstract
Tuberous sclerosis complex(TSC) is an autosomal dominant inherited disease affecting multisystems by hamartomas which include brain、skin、renal 、cardiac and the other organs. The genetic basis of TSC has been determined due to mutation in either one of two unlinked gene, TSC1 and TSC2. The widely variable phenotype expression by genetic penetrating. The manifestations can be mild skin lesion to severe seizure and mental retardation.he aim of this study was to assess tuberous sclerosis complex (TSC) clinical features and caregiver information needs in Taiwan. Clinical study was a retrospective review, the medical records available for possible diagnosis of TSC at National Taiwan University Hospital. The caregiver information needs are survey by purposive sampling, a structured questionnaire was used. The sample of caregivers for children with TSC wewe collected from the Taiwan Association of Tuberous Sclerosis Complex.he results of clinical features were 53 male and 48 female, mean age is 18.97 years old. Most of our patients (38.6%) were diagnosis under first year. The most frequent manifestations were those of the skin lesions (93.1%), brain lesions (90.1%) and seizure (87.1%). In visceral organ, most cardiac rhabdomyoma was in less than 10 years old group. On the contrary, renal angiomyolipoma and lung lymphangiomyomatosis were over 20 years old group.he over-all results of caregiver information needs were「need」, treatment information、over time may developed manifestations and periodically follow up test were the most important. The over all results of caregivers’ knowledge about TSC were「clear」. There are significant associations between Caregiver information needs; it’s frequency of mobility, educational level, knowledge about TSC, gene test, and family income.eizure and skin lesions were more common in tuberous sclerosis complex and recommend that all indivials presenting with seizure and skin clinical features should have extensive investigation. Realization of Individual needs and influencing factor may improve the effectiveness of genetic counseling. We should be active providing genetic medical knowledge and translate easier-understanding for lower educational level or lower motivation for procuration of medical information.
Subjects
Tuberous sclerosis complex
hamartoma
Seizure
caregiver
information needs
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