Autism & Developmental Medicine Institute, Geisinger Health System, 250 Reitz Blvd., Lewisburg, PA 17837, USA.
Intellect Dev Disabil. 2013 Aug;51(4):226-36. doi: 10.1352/1934-9556-51.4.226.
We surveyed 439 professionals in the field of autism to assess their knowledge and perceptions about fragile X syndrome (FXS) and related issues. Almost half had worked with at least one child diagnosed with FXS, yet most lacked basic knowledge about the condition, underestimated its significance in the etiology of autism spectrum disorders, and rarely accessed fragile X-specific resources. A majority perceived etiology to be an important variable in therapeutic response while three quarters felt that professionals in the field of autism should play an active role in referring children for etiological evaluation. Despite these opinions, most respondents either rarely or never inquired about etiology when working with a new client. The survey results underscore the need for training and education so that autism professionals can become effective partners in diagnostic genetic referral and in research and implementation of syndrome-specific interventions.
我们调查了 439 名自闭症领域的专业人士，以评估他们对脆性 X 综合征 (FXS) 及相关问题的知识和看法。近一半的人曾与至少一名被诊断为 FXS 的儿童合作，但大多数人缺乏有关该病的基本知识，低估了其在自闭症谱系障碍病因学中的重要性，很少查阅脆性 X 相关资源。大多数人认为病因是治疗反应的一个重要变量，而四分之三的人认为自闭症领域的专业人员应该在为儿童进行病因评估方面发挥积极作用。尽管有这些意见，但大多数受访者在与新客户合作时要么很少询问病因，要么根本不询问病因。调查结果强调了培训和教育的必要性，以便自闭症专业人员能够成为诊断性遗传转介以及综合征特异性干预措施的研究和实施的有效合作伙伴。
