Genomic Disorders and Cognitive Development

全世界大约每100人中就有1人患有智力残疾，这意味着他们在学习、沟通和独立生活技能方面存在严重的终身困难。ID通常与其他身体和心理健康问题一起发生，这意味着ID患者需要高度的支持，并且通常生活质量较差。目前所能提供的支持主要是反应性的和以症状为重点的，即在问题出现时解决问题。这是因为，直到最近，我们还不知道大多数人的ID的原因，所以不可能在早期阶段预测问题，并根据每个人的情况提供更有效的支持。这种情况正在迅速改变。新的基因检测技术意味着，有可能在一半以上的ID患者身上找到特定的病因。在NHS内部和许多全球卫生机构都可以进行检测。基因诊断为了解每个人的身份提供了新的机会，并利用这些知识来改善身心健康。为了实现这一目标，我们的研究旨在弥合ID的分子原因与每个人经历的终身认知和心理健康困难之间的差距。

About 1 in 100 people worldwide has intellectual disability (ID), meaning that they have significant lifelong difficulties with learning, communication and independent living skills. ID often occurs alongside other physical and mental health difficulties, meaning that people with ID require high levels of support and often have poor quality of life. Currently the support that can be provided is mainly reactive and symptom-focused - tackling problems as and when they arise. This is because, until recently, we did not know the cause of ID for the majority of people, so it was not possible to predict problems at an earlier stage and provide more effective support tailored to the cause of each person’s condition.This situation is now changing fast. New genetic testing technologies mean that it is possible to identify a specific cause in more than half of people with ID. Testing is available within the NHS, and in many global health settings. Genetic diagnosis provides new opportunities to understand each person’s ID, and use this knowledge to improve physical and mental health. To achieve this, our research aims to bridge the gaps between the molecular cause of ID and the lifelong cognitive and mental health difficulties experienced by each person.