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Presymptomatic genetic testing in CADASIL

机译：CADASIL中的症状前基因检测

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Genetic counselling has been poorly investigated in cerebrovascular diseases. Characteristics, motivations and long-term outcome of presymptomatic tests (PT) in subjects at risk of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) were investigated at the National Centre for Rare Vascular Diseases of the Brain and/or Retina (CERVCO). Sociodemographic, motivational and psychological variables were collected between 2003 and 2010 for PT applicants. Multidisciplinary consultations (with a geneticist, neurologist and psychologist) were proposed over a 6 month period. When PT showed a deleterious mutation of the NOTCH3 gene, cognitive performances, mood, autonomy and quality of life were also assessed. Over 7 years, only 33 subjects asked for a PT of CADASIL. They were predominantly women, lived as a couple, had children and were of high sociocultural level. The dropout rate after the first step of the procedure was 63%. The characteristics of the 11 subjects who reached the end of the procedure did not differ from the 22 who dropped out. Six were carriers of the deleterious mutation and were still asymptomatic after a mean follow-up of 19 months. They did not experience any particular negative event and all of them indicated a high score of overall quality of life. Indeed, two carriers gave birth to their first child. These initial data in CADASIL show that PT is rarely requested and that there is a high dropout rate. Our study also highlights that a multidisciplinary and multistep procedure in genetic counselling testing appears useful to obtain minimal harmful consequences of genetic testing.
机译：遗传咨询对脑血管疾病的研究很少。美国国家脑和/或视网膜罕见血管疾病中心（CERVCO）对患有CADASIL（具有皮质下梗死和白质脑病的常染色体显性动脉病）风险的受试者进行了症状前检查（PT）的特征，动机和长期结果。 ）。在2003年至2010年之间收集了针对PT申请人的社会人口统计学，动机和心理变量。提出了在6个月内进行多学科咨询（与遗传学家，神经学家和心理学家进行磋商）。当PT显示出NOTCH3基因的有害突变时，还评估了认知能力，情绪，自主性和生活质量。在7年的时间里，只有33位受试者要求获得CADASIL的PT。他们主要是妇女，成对生活，有孩子，社会文化程度很高。第一步操作后的辍学率为63％。到达手术终点的11名受试者的特征与辍学的22名受试者没有什么不同。 6例是有害突变的携带者，在平均随访19个月后仍无症状。他们没有经历过任何特定的负面事件，并且所有人都表示总体生活质量很高。确实，两个承运人生了他们的第一个孩子。 CADASIL中的这些初始数据表明，很少需要PT，并且辍学率很高。我们的研究还强调，遗传咨询测试中的多学科和多步骤程序似乎对获得最小的遗传测试有害影响很有用。

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