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.

全世界每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重大的终身困难。ID通常与其他身心健康问题一起发生，这意味着ID患者需要高水平的支持，并且通常生活质量很差。目前能够提供的支助主要是反应性的和以解决问题为重点的-在问题出现时加以解决。这是因为直到最近，我们还不知道大多数人的ID原因，因此无法在早期预测问题，并根据每个人的病情提供更有效的支持。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超过一半的ID人群中确定特定原因。基因诊断为了解每个人的ID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所经历的终身认知和心理健康困难之间的差距。

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

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

Rare neurodevelopmental conditions and parents' mental health - how and when does genetic diagnosis matter?

罕见的神经发育状况和父母的心理健康 - 基因诊断如何以及何时发挥作用？

• DOI: 10.1186/s13023-024-03076-2
• 发表时间: 2024
• 期刊: Orphanet Journal of Rare Diseases
• 影响因子: 3.7
• 作者: Chi Z

Delineation of the pathogenic presynaptic mechanisms of synaptotagmin-1 variants

synaptotagmin-1 变体致病性突触前机制的描述

• DOI: 10.1101/2023.10.29.564558
• 发表时间: 2023
• 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: 10.1080/09297049.2022.2054968
• 发表时间: 2022
• 期刊: a journal on normal and abnormal development in childhood and adolescence
• 作者: Brkic D