Genomic Disorders and Cognitive Development

基因组疾病和认知发展

• 批准号: MC_UU_00030/3
• 负责人: Kate Baker
• 金额: $ 250.25万
• 依托单位: University of Cambridge
• 依托单位国家: 英国
• 项目类别: Intramural
• 财政年份: 2022
• 资助国家: 英国
• 起止时间: 2022 至 无数据
• 项目状态: 未结题
• 来源: https://gtr.ukri.org/projects?ref=MC_UU_00030%2F3
• 关键词: Genomic; Disorders; Cognitive; Development

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.

全球约有百分之一的人患有智力障碍 (ID)，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生困难，智力障碍通常与其他身心健康问题同时发生，这意味着智力障碍患者需要高水平的支持。目前，可以提供的支持主要是反应性的和以症状为中心的——在问题出现时进行协商。这是因为，直到最近，我们还不知道大多数人患智力障碍的原因。人，所以无法及早预测问题这种情况正在迅速改变，新的基因检测技术意味着可以在超过一半的 ID 患者中识别出特定的原因。 NHS 以及许多全球健康机构中的基因诊断为了解每个人的智力障碍提供了新的机会，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智力障碍的分子原因和疾病之间的差距。每个人都会经历终生的认知和心理健康困难。

项目成果

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.

扩大 SYT1 相关神经发育障碍的基因型和表型谱。

• DOI: http://dx.10.17863/cam.85686
• 发表时间: 2022
• 作者: Melland H

[Formula: see text]FarmApp: a new assessment of cognitive control and memory for children and young people with neurodevelopmental difficulties.

[公式：见文字]FarmApp：针对有神经发育困难的儿童和青少年的认知控制和记忆力的新评估。

• DOI: http://dx.10.17863/cam.85716
• 发表时间: 2022
• 作者: Brkic D

Experiences of parents of children with rare neurogenetic conditions during the COVID-19 pandemic: an interpretative phenomenological analysis.

COVID-19 大流行期间患有罕见神经遗传疾病的儿童的父母的经历：解释性现象学分析。

• DOI: http://dx.10.1186/s40359-023-01205-3
• 发表时间: 2023
• 期刊: BMC psychology
• 影响因子: 3.6
• 作者: Martin JA

Desert Island Papers.

荒岛论文。

• DOI: http://dx.10.1177/23982128231199006
• 发表时间: 2023
• 期刊: Brain and neuroscience advances
• 作者: Baker K

Experiences of parents of children with rare neurogenetic conditions during the COVID-19 pandemic: an interpretative phenomenological analysis.

COVID-19 大流行期间患有罕见神经遗传疾病的儿童的父母的经历：解释性现象学分析。

• DOI: http://dx.10.31234/osf.io/wjqx8
• 发表时间: 2022
• 作者: Martin J