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Bibliografie orientativa:

Bibliografie orientativa: David, D., Rusu, A., Benga, O. (2007). Fundamente de psihologie evolutionista si consiliere genetica. Editura Polirom Evans, C. (2006). Genetic Counselling. A Psychological Conversation. Cambridge University Press

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Bibliografie orientativa:

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  1. Bibliografie orientativa: David, D., Rusu, A., Benga, O. (2007). Fundamente de psihologie evolutionista si consiliere genetica. Editura Polirom Evans, C. (2006). Genetic Counselling. A Psychological Conversation. Cambridge University Press McCarthy Veach et al., (2003). Facilitating the Genetic Counseling Process. A Practice Manual. Springer www.eurogentest.org http://www.orpha.net http://www.omim.org http://www.genecards.org

  2. Structura • Introducere in consilierea genetica • Aspecte psihologice ale consilierii genetice • Fundamente de genetica • Consiliere genetica in boli somatice • Consiliere genetica in boli mentale • Therapygenetics • Aspecte etice in consilierea genetica • Luarea de decizii in consilierea genetica

  3. BOALA HUNTINGTON • Boala (Coreea) Huntington este o tulburare genetica neurodegenerativa • inca de la debut o usoara afectare la nivel de coordonare motorie ce duce in final spre declin cognitiv, dementa. • mai comuna in Europa de Vest, decit in Asia si Africa si se datoreaza unei mutatii autozomal dominante.

  4. Vârsta de debut: cel mai frecvent la 35-50 ani; forma juvenilă la 10-15 ani (Westphal). • Tablou clinic: miscari involuntare asociate tulburarior cognitive si psihiatrice. • Semnele de debut sunt sacade oculare, miscari bruste si necontrolate ale fetei si membrelor care se generalizeaza in coree. • In 5-10 ani de la debut pacientii isi pierd coordonarea motorie si abilitatea cognitiva, iar decesul survine la aproximativ 17 ani de la debut • Manifestari neuropsihiatrice – anxietate, depresie, agresivitate, compulsii(comportamente de adictie), dificultati in recunoasterea emotiilor • Tentative de suicid, ideatie suicidala

  5. Incidenta: 1 -10000/24000 Transmitere autosomal dominanta Mecanism genetic: • Implicata gena HTT (4p16.3)- > proteina Htt • Repetitie trinucleotidica CAG (glutamina, polyQtract) >36 -> mHtt

  6. Expansiune trinucleotidica

  7. Mortalitatea • Risc asociat: pneumonie 1/3 • Probleme cardiace 1/4 • Suicid 7.3 %, tentativa 27% • Traume fizice- cazaturi, malnutritie

  8. Diagnostic predictiv:explorari neurologice si analiza ADN • Profilaxia:diagnostic predictiv si consult genetic • Tratement este deocamdata in principal simptomatic

  9. Huntington’s Dance

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