Epidemiological Research on Autism in Jamaica

描述（由申请人提供）：自闭症谱系障碍（ASD）是一种复杂的终身神经发育和行为障碍，表现在婴儿期或幼儿期，其特征是社交和交流障碍，以及重复的刻板行为。虽然ASD的原因尚不清楚，但有证据表明，其起源可能是子宫内或婴儿早期发生的基因-环境相互作用的结果。ASD的患病率在发达国家似乎呈上升趋势，并已成为一个严重的公共卫生问题。然而，在大多数发展中国家，与ASD相关的因素的性质和流行程度尚不清楚。这一规划项目的长期目标是发展能力，以便在牙买加开展大规模的以人口为基础的自闭症谱系障碍研究。该项目的合作伙伴是德克萨斯大学休斯顿健康科学中心（UTHSC-H）和自闭症代言人（AS）的经验丰富的研究人员，与牙买加西印度群岛大学（UWI）的一组研究人员合作。牙买加目前的ASD病例确定是基于DSM-IV标准和儿童自闭症评定量表（汽车）。我们将提供基于自闭症诊断访谈修订版（ADI-R）和诊断观察计划（ADOS）工具的ASD病例确定培训，并建立可靠性。使用ADOS和ADI-R，我们将重新评估来自牙买加自闭症数据库的约250例CARS确定的ASD病例（年龄2-8岁），该数据库由我们的牙买加合作者Maureen Samms-Vaughan博士在UWI开发。将确定汽车和ADI-R之间的协议。我们还将进行一项试验性的年龄和性别匹配的病例对照研究，以调查汞、铅、砷和镉的环境暴露是否在自闭症中发挥作用。此外，我们将评估谷胱甘肽-S-转移酶基因（GSTM 1，GSTT 1，GSTP 1）的选择多态性的作用，以及它们与ASD相关的重金属的潜在相互作用。对于病例组和对照组，我们将进行问卷调查，以评估父母的人口统计学和社会经济地位、职业、吸烟和饮酒状况。此外，还将收集有关发育障碍家族史、家庭规模、索引儿童的出生顺序以及儿童是否正在服用任何药物的信息。此外，还将进行饮食调查问卷，以了解可能接触铅、汞、砷和镉等环境污染物的情况。在访谈结束时，将从病例和对照儿童中收集1-2 mL唾液和约5 mL全血。DNA分离和多态性分析将在UTHSC-H公共卫生学院的人类遗传学中心进行。将使用Perkin Elmer Elan DRC plus ICP质谱仪分析血样中的砷、镉、汞和铅，采用CDC方案中描述的方法，并由密歇根州兰辛的密歇根州社区卫生部痕量金属实验室进行调整。公共卫生相关性：ASD的患病率在发达国家似乎呈上升趋势，并已成为一个严重的公共卫生问题。ASD是一种复杂的终身神经发育和行为障碍，约50%的ASD儿童患有某种程度的智力低下和其他发育障碍。通过对ASD潜在环境风险因素的新认识，减少儿童，家庭和社会的身体，心理和经济负担，并做出避免暴露于环境污染物的决定，可能成为可能。

DESCRIPTION (provided by applicant): Autism Spectrum Disorders (ASDs) are complex lifelong neurodevelopmental and behavioral disorders manifesting in infancy or early childhood, characterized by impairments in social interaction and communication, and by repetitive, stereotyped behavior. Although the causes of ASD are unknown, the evidence suggests that the origins are likely the result of gene-environment interaction occurring in utero or very early in infancy. The prevalence of ASD appears to be on the rise in developed countries, and has become a serious public health concern. In most developing countries, however, the nature and prevalence of factors associated with ASDs are unknown. The long term goal of this planning project is to develop capacity for conducting large scale population-based Autism Spectrum Disorder (ASD) studies in Jamaica. The partners in this project are experienced researchers at The University of Texas Health Science Center at Houston (UTHSC-H) and Autism Speaks (AS), collaborating with a team of researchers in The University of West Indies (UWI) in Jamaica. The current ASD case-ascertainment in Jamaica is based on DSM-IV criteria and the Childhood Autism Rating Scale (CARS). We will provide training for ASD case-ascertainment based on Autism Diagnostic Interview-Revised (ADI-R) and Diagnostic Observation Schedule (ADOS) instruments and establish reliability. Using ADOS and ADI-R, we will re-evaluate about 250 CARS-identified ASD cases (age 2-8 years) from the Jamaica Autism Database, which is developed by our Jamaican collaborator, Dr Maureen Samms-Vaughan, at the UWI. The agreement between CARS and ADI-R will be determined. We will also conduct a pilot age and sex matched case-control study to investigate whether environmental exposures to mercury, lead, arsenic and cadmium play a role in autism. In addition, we will assess the role of select polymorphisms in glutathione-S-transferase genes (GSTM1, GSTT1, GSTP1), and their potential interactions with these heavy metals in relation to ASD. For both cases and controls we will administer a questionnaire to assess the demographic and socioeconomic position, occupation, smoking and drinking status of the parents. In addition, information about family history of developmental disorders, family size, birth order of the index child and whether the child is taking any medications will be collected. Furthermore, a dietary questionnaire aimed at capturing possible exposure to environmental contaminants such as lead, mercury, arsenic and cadmium will be administered. At the end of interview, 1-2 mLs of saliva and about 5 mLs of whole blood will be collected from the case and control children. The DNA isolation and analysis of polymorphisms will be conducted at the Center for Human Genetics at UTHSC-H School of Public Health. Blood samples will be analyzed for arsenic, cadmium, mercury and lead using a Perkin Elmer Elan DRC plus ICP Mass Spectrometer using the methodology described by the CDC protocols and adapted by the Michigan Department of Community Health Trace Metal Laboratory in Lansing, Michigan. PUBLIC HEALTH RELEVANCE: The prevalence of ASD appears to be on the rise in developed countries, and has become a serious public health concern. ASDs are complex lifelong neurodevelopmental and behavioral disorders and about 50% of ASD children suffer some degree of mental retardation and other developmental disorders. Reducing physical, psychological and economic burdens on the child, family and society may become possible through new knowledge of the potential environmental risk factors for ASD, and make decisions about avoiding exposure to environmental contaminants.