2008 Barcelona - European Society of Human Genetics

EMPAG Posters
ties raised by IBMPFD with the evidence from the genetic counselling
protocols available for other neurodegenerative and neuromuscular
disorders .
EP08.7
the role of the disease in the psychological impact of
presymptomatic testing for scA2 and FAP AttRV30m:
knowledge of the disease in the family, degree of kinship and
gender of the transmitting parent
M. Paneque Herrera 1,2 , C. Lemos 1 , L. Velázquez Pérez 2 , J. Sequeiros 1 , M.
Fleming 1 ;
1 IBMC, Porto, Portugal, 2 CIRAH, Holguín, Cuba.
To study factors of psychological impact of presymptomatic testing
(PST) of spinocerebellar ataxia type 2 (SCA2) and familial amyloid
polyneuropathy (FAP ATTRV30M), we analyzed (i) the effect of previous
experience with the disease in the family, kinship with closest affected
relative and gender of transmitting parent, when adapting to test
results; and (ii) differences in the course of psychological wellbeing in
63 subjects, 28 offspring at risk for FAP, Portugal, and 35 at risk for
SCA2, Cuba (who up-took testing May 2004 to April 2006) .
Persons with less previous knowledge of the disease in the family referred
more anxiety; lower levels of anxiety and depression were seen
when the disease was present in first-degree relatives; having an affected
mother was associated with lower levels of depression, both
immediately and one year after results . Offspring at-risk for FAP had
less anxiety that those at-risk for SCA2, during the whole follow-up (1
year), though differences were not significant.
A longer period of contact with the disease, closer kinship and an affected
mother all lessen the impact of PST, as expressed in levels of
anxiety and depression .
EP08.8
is emotional impact of genetic testing related to the subjective
risk to be a mutation carrier ? the example of neuroendocrine
tumors
K. Lahlou-Laforet 1 , S. M. Consoli 1 , X. Jeunemaitre 2 , A. Gimenez-Roqueplo 2 ;
1 C-L Psychiatry Department, Paris 5 University of Medicine, Georges Pompidou
European Hospital, Paris, France, 2 Department of genetics, Georges Pompidou
European Hospital, Paris, France.
Paraganglioma and pheochromocytoma are generally benign neuroendocrine
tumors, inherited in about 25% of cases (autosomal dominant
model), causing by germline mutations in SDHD, SDHB, SDHC, VHL,
RET or NF1 genes . The hereditary form of the disease is characterized
by an early onset with a higher risk of recurrency and/or malignancy .
Genetic testing of patients and their families opens to earlier diagnosis
and treatment of asymptomatic tumors in mutation carriers .
Objective: To evaluate emotional impact of genetic testing in consecutive
patients met during oncogenetic multisciplinary consultation dedicated
to pheochromocytomas and paragangliomas .
Methods: Baseline state and trait-anxiety (STAI), depression (BDI-13)
and subjective risk to be career of the mutation were assessed before
the blood sample . A second assessment of state-anxiety, depression
and traumatic impact of the announcement (IES-R) was performed after
the definitive test result.
Results: 29 subjects were tested and 22 received the definitive result
(12 positive, 10 negative) . Baseline depression was correlated with the
number of children (rho=0 .40; p=0 .03) . There was no change in state
anxiety and depression after the test result . Psychological scores were
not associated with subject’s status (index case or relative) . State-anxiety,
depression and impact of event scores did not differ according to
the test result . A higher impact of the result was found when subjects
expected to be carriers whereas they actually were not (p