Mercer L, Creighton S, Holden J J A, Lewis M E S
Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
J Genet Couns. 2006 Feb;15(1):41-50. doi: 10.1007/s10897-005-9002-7.
Autism Spectrum Disorders (ASDs) are complex neurodevelopmental disorders with many biological causes, including genetic, syndromic and environmental. Such etiologic heterogeneity impacts considerably upon parents' needs for understanding their child's diagnosis. A descriptive survey was designed to investigate parental views on the cause(s) of ASD in their child. Among the 41 parents who replied to the questionnaire, genetic influences (90.2%), perinatal factors (68.3%), diet (51.2%), prenatal factors (43.9%) and vaccines (40.0%) were considered to be the most significant contributory factors. Parents reported inaccurately high recurrence risks, misperceptions of the contribution of various putative factors, feelings of guilt and blame regarding their child's diagnosis, as well as a lack of advocacy for genetic counseling by non-geneticist professionals. This study offers clinicians and researchers further insight into what parents believe contributed to their child's diagnosis of ASD and will help facilitate genetic counseling for these families.
自闭症谱系障碍（ASD）是一种复杂的神经发育障碍，有多种生物学病因，包括遗传、综合征性和环境因素。这种病因的异质性对父母理解孩子诊断的需求有很大影响。一项描述性调查旨在研究父母对其孩子患自闭症谱系障碍病因的看法。在回复问卷的41位父母中，遗传影响（90.2%）、围产期因素（68.3%）、饮食（51.2%）、产前因素（43.9%）和疫苗（40.0%）被认为是最主要的促成因素。父母报告了不准确的高复发风险、对各种假定因素贡献的误解、对孩子诊断的内疚和自责感，以及非遗传学家专业人员对遗传咨询缺乏宣传。这项研究为临床医生和研究人员提供了进一步的见解，了解父母认为是什么导致了孩子被诊断为自闭症谱系障碍，并将有助于为这些家庭提供遗传咨询。
