[Psychological aspects of presymptomatic diagnosis in Huntington disease].
BACKGROUND
Huntington disease is an autosomal dominant, progressive neurodegenerative disorder, starting in adulthood. International recommendations were created for presymptomatic testing (genetic test performed before symptoms appear). During the initial preparation for presymptomatic testing, a genetic counsellor, neurologist and psychologist attend.


OBJECTIVE
The authors evaluated whether the international recommendations could be used in the 10 cases examined, and how much the process must be individualized.


METHODS
The authors stated a protocol based on the literature, and utilized it for the purpose of obtaining informed consent. Psychological preparation was an important part of this process. Ten cases are presented in whose families Huntington disease was determined, and therefore they asked for their own presymptomatic testing.


RESULTS
From the ten persons who asked for examination, four changed their minds during the psychological process; four were attended in the process, and two asked for the test without any psychological preparation.


CONCLUSIONS
Along with the following of the protocol steps individual factors need to be taken into account in order to ideally plan the preparation process of presymptomatic testing. Authors recommend keeping contact with the individuals after genetic testing.
Bondor
Berta
B
Pécsi Tudományegyetem, Altalános Orvostudományi Kar Orvosi Genetikai és Gyermekfejlodéstani Intézet Pécs József A. u. 7. 7623.
Kárteszi
Judit
J
Hadzsiev
Kinga
K
Kellermayer
Richárd
R
Melegh
Béla
B
Kosztolányi
György
G
D000328:Adult; D042241:Early Diagnosis; D005260:Female; D005817:Genetic Counseling / Q000523:psychology; D020022:Genetic Predisposition to Disease / Q000523:psychology; D005820:Genetic Testing / Q000523:psychology*; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D008297:Male