A population-based twin-study of autism spectrum disorders: genetic and environmental sources of cognitive and clinical

自闭症是一种破坏性的疾病，会影响建立社会关系、沟通和打破僵化的惯例的能力。自闭症和自闭症谱系障碍(ASD)影响着英国50多万个家庭。虽然已知ASD是可遗传的，但确切涉及的基因尚不清楚。同样，尽管公众非常关注，但没有发现任何环境风险因素。我们的目标是在对1994-1996年间在英格兰和威尔士出生的所有双胞胎进行的现有研究中，建立迄今为止最大的自闭症双胞胎研究。我们会用最先进的诊断工具评估双胞胎，测试心理上的强弱，并询问父母可能的环境因素。比较同卵双胞胎和异卵双胞胎，观察诊断、症状以及心理和环境测量之间的关系，将确定自闭症谱系中可能的亚群。这项工作应该会加快识别可能在相互作用中使儿童容易患自闭症的遗传和环境因素。发现这些因素是为自闭症谱系障碍提供干预和治疗的第一步。

Autism is a devastating disorder affecting the ability to make social relationships, communicate and break out of rigid routines. Autism and autism spectrum disorders (ASD) affect over 500,000 families in the UK. While ASD is known to be heritable, the exact genes involved are not known. Similarly, despite much public concern, no environmental risk factors have been discovered. We aim to establish the largest twin study of ASD to date, within an existing study of all twins born in England and Wales in 1994-1996. We would assess twins with state-of-the-art diagnostic tools, and give tests for psychological strengths and weaknesses, as well as asking parents about possible environmental factors. Comparing identical and fraternal twins, and looking at the relationships between diagnosis, symptoms, and psychological and environmental measures, will identify possible subgroups within the autism spectrum. This work should speed the identification of genetic and environmental factors that, perhaps in interaction, predispose a child to autism. Discovering these factors is the first step in providing intervention and treatment for autism spectrum disorders.