1/2 Development of a Screening Interview for Research Studies of ASD

描述（由申请人提供）：为了加强遗传学研究和其他大规模病因学研究的参与者招募工作，需要一种可以实际有效地用于自闭症谱系障碍（ASD）研究的仪器。目前的建议旨在开发一种基于自闭症诊断访谈-修订版（ADI-R; Rutter et al., 2003）中的问题的研究筛选工具，但这实质上更短，更容易管理。新开发的ADI研究筛选面谈将适合亲自或通过电话使用。美国自闭症协会研究筛选访谈的开展将涉及两个大样本的自闭症儿童和非自闭症儿童。现有的979项ASD儿童评估和257项非ASD儿童评估的数据将用于开发该工具。另一组约180名ASD患者和240名非ASD患者将从正在进行的研究和专业诊断诊所中招募，以测试新的测量方法。鉴于最近的研究发现，患有某些非ASD诊断的儿童经常被ASD筛查和诊断方法错误分类（例如，Towbin等人，2005；Bishop等人，2007），该建议的一个特别优势是招募有针对性的非ASD诊断的儿童，包括智力残疾（ID）、注意缺陷多动障碍（ADHD）、焦虑症和早期发育风险群体。随着新技术的出现，基因检测变得更容易获得，成本更低，研究人员越来越多地呼吁找到一种方法，首先快速筛选大量的ASD人群，然后在基因测试分析后进行更密集的表型分析。具有高灵敏度和特异性的诊断筛查仪器的可用性将大大减少目前确定ASD研究参与者诊断状态所需的时间和费用。通过电话管理筛查方案的选择将有助于接触到更多样化的参与者人群，这些人群的旅行可能不太可行，而且传统上在自闭症谱系障碍研究中代表性不足。

DESCRIPTION (provided by applicant): To enhance participant recruitment efforts for genetics studies and other large- scale etiological research efforts, there is a need for an instrument that can be practically and efficiently employed in research studies of autism spectrum disorders (ASD). The current proposal aims to develop a research screening instrument that is based on questions from the Autism Diagnostic Interview-Revised (ADI-R; Rutter et al., 2003), but that is substantially shorter and easier to administer. The newly developed ADI Research Screening Interview will be appropriate for use in person or on the telephone. Development of the ADI Research Screening Interview will involve two large samples of children with ASD and non-ASD diagnoses. Existing data from a total of 979 assessments of children with ASD and 257 assessments of children with non-ASD diagnoses will be used to develop the instrument. A separate group of approximately 180 participants with ASD and 240 with non-ASD diagnoses will be recruited from ongoing research studies and specialty diagnostic clinics to test the new measure. Given recent findings that children with certain non-ASD diagnoses are often misclassified by ASD screening and diagnostic measures (e.g., Towbin et al., 2005; Bishop, et al., 2007), a particular strength of this proposal is the recruitment of children with targeted non-ASD diagnoses, including intellectual disability (ID), attention deficit hyperactivity disorder (ADHD), anxiety disorder, and an early developmental risk group. With the advent of new technologies making genetic testing more accessible and less expensive, researchers are increasingly calling for a way to rapidly screen large populations for ASD first, and then carry out more intensive phenotyping after genetic tests are analyzed. The availability of a diagnostic screening instrument with high levels of sensitivity and specificity will dramatically reduce the time and expense that is currently required to determine diagnostic status of ASD research participants. The option of administering the screening protocol by telephone will facilitate access to more diverse participant populations for whom travel may be less feasible and who are traditionally under-represented in ASD research. PUBLIC HEALTH RELEVANCE: This proposal will result in the development of a new screening instrument to identify children with autism spectrum disorders (ASD). Several investigations are currently underway in order to better understand the causes of ASD. Many of these studies require very large numbers of participants; however, current methods for identifying participants for such studies are often expensive and time-consuming and require intensive training. To address these issues, we aim to create a short parent interview that can be administered on the telephone to quickly identify potential participants for ASD research. This new instrument will facilitate research into ASD etiology by increasing the speed and effectiveness of participant recruitment efforts. In addition, such an instrument may have other practical uses clinically. In communities where the wait for an ASD evaluation is extremely long or there are no local resources for diagnostic evaluations, an efficient screening instrument that could be administered by phone might help triage children in need of further evaluation and/or be used to qualify children for certain intervention services pending a more complete diagnostic evaluation at a later time.