alexa Abstract | Tuberous sclerosis complex (tsc) in greece: knowledge, information and counseling of families

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Abstract

Background: TSC is a genetic multi-system disorder, inherited in an autosomal dominant fashion that may appear in every age and with a great variety in severity. It is a rare disease and its incidence has recently estimated to be 1 in 6,000 live births.Aim: Primary goal of this descriptive study was to list the level of parental knowledge concerning TSC and its therapeutic approaches along with their attitudes in connection with the disease and the possibility of a future pregnancy.Methods: A convenience sample of 42 Greek parents was used. Data was obtained by a 57 elements questionnaire.Results: The majority of parents were women (85,7%) and their mean age was 39,7 years (sd 8,8 years). They were parents of 23 boys (54.8%) and 19 girls with TSC (45.2%) with mean age 14,6 years (sd 8,37 years). The most common problems reported were word delay (50%), hyperactivity (45.2%), difficulty in word pronounce (42.9%) and repeated movements or actions (40.5%). In general, among the 42 children of the sample, the majority (67%) can express their needs, 21% can show their needs and only 5 children had major problems in contact with others. Many parents (41%) stated that they had to face many problems or delay concerning the diagnosis of TSC and expressed guilt (45.2%), anger (23.8%) or mainly sadness (83.3%) after learning about TSC inheritance.Conclusions: Families of children with TSC face many problems. The need of information of people and health carriers for the rare pediatric diseases such as TSC, is very important. Moreover, genetic counseling in Greece has a very important role, in the early diagnosis and prognosis of TSC.

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Author(s): Petsios Konstantinos

 
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