Simonoff E
Section of Child and Adolescent Psychiatry, Guy's Medical School, Guy's Hospital, London, United Kingdom.
J Autism Dev Disord. 1998 Oct;28(5):447-56. doi: 10.1023/a:1026060623511.
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.
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。