科研之友
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摘要
Introduction. - Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. However, little information is available concerning the way each patient learns about the existence of Huntington's disease in his family and the way he transmits the information to his descendants. This study aims to specify the role of families and healthcare professionals in delivering information about the disease and its hereditary risk.
Patients and methods. - Data from 105 consecutive patients were analyzed. The patients were categorized in four classes according to the way they received information about HD in their family: firstly, families where the disease was known; secondly, families where the HD was "poorly known"; thirdly, families where no antecedent could be found; fourthly, families where the disease was voluntarily hidden. The majority (52%) of the patients did not know the name of HD before being diagnosed. The patient choices for disclosure of hereditary risks to their relatives were influenced by the information they received about the disease in their own family. Patients from the second category (disease "poorly known") had the most difficulty in transmitting the information.
Discussion. - Despite the high risk of transmission, information about the disease is poorly known and transmitted in families concerned by HD. Although healthcare professionals confronted with the question of information delivery to relatives must always respect patient confidentiality, our results underline the need to more fully inform patients about the disease and transmission patterns. More help from healthcare professionals is needed to accompany HD patients concerning the question of transmitting information. The efficacy of a specific educational program should be assessed.
- 出版日期2008-2
