Suppr超能文献

自闭症及广泛性发育障碍的遗传咨询

Genetic counseling in autism and pervasive developmental disorders.

作者信息

Simonoff E

机构信息

Section of Child and Adolescent Psychiatry, Guy's Medical School, Guy's Hospital, London, United Kingdom.

出版信息

J Autism Dev Disord. 1998 Oct;28(5):447-56. doi: 10.1023/a:1026060623511.

Abstract

With increasing awareness of the importance of genetic influences on autism, there is now a demand from families with an affected member for advice regarding their risk of having an autistic child. Research evidence currently available makes it possible to give families empirical recurrence risks. It is desirable that this information is imparted by those with joint expertise in the diagnosis and treatment of autism and in the genetics of complex modes of inheritance. A protocol for genetic counseling is described, along with the key elements that influence the recurrence risks given to individual couples. There is a need to give information regarding recurrence risks not only for autism but also for the broader phenotype. In addition, couples may have other issues they wish to discuss, which may influence their reproductive decisions.

摘要

随着人们对基因影响自闭症重要性的认识不断提高,现在有自闭症患者的家庭要求就生育自闭症孩子的风险获取建议。目前可得的研究证据使得向家庭提供经验性复发风险成为可能。由在自闭症诊断与治疗以及复杂遗传模式遗传学方面具备联合专业知识的人员来提供这些信息是可取的。本文描述了遗传咨询的方案,以及影响给予个别夫妇复发风险的关键因素。不仅需要提供自闭症的复发风险信息,还需要提供更广泛表型的复发风险信息。此外,夫妇可能还有其他希望讨论的问题,这些问题可能会影响他们的生育决定。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验