GENETICS OF AUTISM

自闭症的遗传学

• 批准号: 6304884
• 负责人: William M McMahon
• 金额: $ 0.16万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-12-01 至 2001-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6304884
• 关键词: autism; behavior test; behavioral /social science research tag; behavioral genetics; child (0-11); clinical research; dyslexia; family genetics; gene frequency; genetic mapping; histocompatibility antigens; human subject; immunogenetics; immunoglobulin A; intelligence tests; magnetic resonance imaging; mental retardation

Autism, one of the best validated neuropsychiatric disorders of childhood, may represent the final common outcome of multiple causative factors. Heredity appears to play an important role: families with one autistic child face a recurrence risk for subsequent children that is 100 times greater than the population risk. Recent studies of twins show that between 60 and 90% of identical twin pairs are concordant for autism, whereas in non-identical twins, the concordance rate is zero. Together, these data strongly support the hypothesis that autism results from a strong, thought not absolute, genetic influence. The Utah Autism Program Project aims to identify genetic and non-genetic subgroups of autism by studying possible manifestations of the disorder and the familiar amount of transmission of these manifestations in autistic children and their first-degree family members. The findings will be contrasted to control groups of families in which a proband has been affected with a nonspecific mental retardation or with dyslexia. Features to be measured include immunologic competence, cognitive, psychiatric, morphologic differences and finally, variables in the brain detected by magnetic resonance imaging studies.

孤独症是儿童时期最有效的神经精神疾病之一， 可能是多种致病因素共同作用的结果。 遗传似乎起着重要作用：有一个自闭症儿童的家庭 面临的复发风险为以后的孩子，是100倍以上， 人口风险。 最近对双胞胎的研究表明， 90%的同卵双胞胎都患有自闭症，而在 异卵双胞胎的一致率为零 这些数据一起 强烈支持这一假设，自闭症的结果从一个强大的，思想 而不是绝对的基因影响 犹他州自闭症项目旨在 通过研究可能的自闭症，识别自闭症的遗传和非遗传亚组 疾病的表现和常见的传播量， 自闭症儿童及其一级家庭的这些表现， 成员 研究结果将与对照组的家庭进行对比， 先证者患有非特异性精神发育迟滞，或 有阅读障碍 待测量的特征包括免疫能力， 认知、精神、形态差异，最后， 脑磁共振成像研究发现。