Bibliografie orientativa:
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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
description
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 - PowerPoint PPT Presentation
Transcript of 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 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
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
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.
• 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
Incidenta: 1 -10000/24000Transmitere autosomal dominantaMecanism genetic: •Implicata gena HTT (4p16.3)- > proteina Htt •Repetitie trinucleotidica CAG (glutamina, polyQtract) >36 -> mHtt
Expansiune trinucleotidica
Mortalitatea •Risc asociat: pneumonie 1/3
•Probleme cardiace 1/4
•Suicid 7.3 %, tentativa 27%
•Traume fizice- cazaturi, malnutritie
• Diagnostic predictiv: explorari neurologice si analiza ADN
• Profilaxia: diagnostic predictiv si consult genetic
• Tratement este deocamdata in principal simptomatic
Huntington’s Dance
