Tuberous Sclerosis Complex (TSC) in Greece

dc.contributor.author	Τσουμάκας, Κωνσταντίνος	el
dc.contributor.author	Πολυμέρη, Κωνσταντίνα	el
dc.contributor.author	Πέτσιος, Κωνσταντίνος	el
dc.contributor.author	Μάντζιου, Βασιλική	el
dc.contributor.author	Μανώλης, Ευάγγελος	el
dc.date.accessioned	2014-07-13T15:28:11Z
dc.date.available	2014-07-13T15:28:11Z
dc.date.issued	2014-07-13
dc.identifier.uri	http://hdl.handle.net/11400/1200
dc.rights	Αναφορά Δημιουργού-Μη Εμπορική Χρήση-Όχι Παράγωγα Έργα 3.0 Ηνωμένες Πολιτείες	*
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/3.0/us/	*
dc.source	www.hsj.gr	en
dc.subject	Tuberous sclerosis complex
dc.subject	Knowledge
dc.subject	Information
dc.subject	Counseling
dc.subject	Children
dc.title	Tuberous Sclerosis Complex (TSC) in Greece	en
heal.type	journalArticle
heal.secondaryTitle	knowledge, information and counseling of families	en
heal.classification	Medicine
heal.classification	Ιατρική
heal.classificationURI	N/A-Medicine
heal.classificationURI	N/A-Ιατρική
heal.language	en
heal.access	free
heal.recordProvider	Τεχνολογικό Εκπαιδευτικό Ίδρυμα Αθήνας.Σχολή Επαγγελμάτων Υγείας και Πρόνοιας. Τμήμα Νοσηλευτικής	el
heal.publicationDate	2008-09
heal.bibliographicCitation	Tsoumakas, K., Polymeri, K., Petsios, K., Mantziou, V., Manolis, E.. (2008). Tuberous Sclerosis Complex (TSC) in Greece: knowledge, information and counseling of families. "Health Science Journal". 2 (3), 129-39.	en
heal.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.	en
heal.publisher	Μαρβάκη, Χριστίνα	el
heal.journalName	Health Science Journal	en
heal.journalType	peer-reviewed
heal.fullTextAvailability	true
heal.dateCreated	2008-07