Valente Enza Maria, Ferraris Alessandro, Dallapiccola Bruno
Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
Lancet Neurol. 2008 Dec;7(12):1113-26. doi: 10.1016/S1474-4422(08)70257-6.
Paediatric neurological disorders encompass a large group of clinically heterogeneous diseases, of which some are known to have a genetic cause. Over the past few years, advances in nosological classifications and in strategies for molecular testing have substantially improved the diagnosis, genetic counselling, and clinical management of many patients, and have facilitated the possibility of prenatal diagnoses for future pregnancies. However, the increasing availability of genetic tests for paediatric neurological disorders is raising important questions with regard to the appropriateness, choice of protocols, interpretation of results, and ethical and social concerns of these services. In this Review, we discuss these topics and how these concerns affect genetic counselling.
儿科神经系统疾病涵盖了一大类临床异质性疾病，其中一些已知有遗传病因。在过去几年中，疾病分类学和分子检测策略的进展显著改善了许多患者的诊断、遗传咨询和临床管理，并为未来妊娠的产前诊断提供了可能。然而，儿科神经系统疾病基因检测的日益普及，引发了关于这些检测服务的适用性、方案选择、结果解读以及伦理和社会问题的重要疑问。在本综述中，我们讨论了这些主题以及这些问题如何影响遗传咨询。
