Trajectories of motor development in Neurofibromatosis 1 in the preschool period
学龄前神经纤维瘤病 1 的运动发育轨迹
基本信息
- 批准号:2899810
- 负责人:
- 金额:--
- 依托单位:
- 依托单位国家:英国
- 项目类别:Studentship
- 财政年份:2023
- 资助国家:英国
- 起止时间:2023 至 无数据
- 项目状态:未结题
- 来源:
- 关键词:
项目摘要
Neurofibromatosis 1 is a common autosomal dominant single gene neurodevelopmental disorder, with birth incidence of 1:2700. It is caused by a mutation of the NF1 gene on chromosome 17q11.2, which has an important role in intracellular signalling, learning and synaptic plasticity. Motor, cognitive and learning problems are common in NF1 and there is a high prevalence of both autism spectrum disorder (ASD) of approximately 25% and Attention Deficit Hyperactivity Disorder (ADHD) of about 50% in NF1. Motor difficulties including gross and fine motor impairments, balance and coordination difficulties are commonly reported in NF1. These impairments impact quality of life, academic functioning, peer, and social relationships. Emerging research suggests that motor impairments may be a component of the ASD phenotype. Although motor impairments are commonly reported in NF1, the trajectory of motor development is not well understood. Understanding the trajectory of development will be important for early diagnosis and intervention. Understanding the trajectory of motor development to identify early signs may help use develop early rehabilitation approaches, which could in turn ameliorate the emergence of motor, cognitive and behavioural difficulties seen in NF1.This doctoral project is in collaboration with Nerve Tumours UK as our charity industry partner (https://nervetumours.org.uk/). The aims of this study will be (i) to determine the trajectories of motor development in NF1 infants from 5months to 3 years using the Mullen Scale of Early learning, and parent reported data and compare it to low-risk controls (iii) examine the trajectory of objectively measured accelerometer-derived activity to model motor stability (sway, jerkiness, stability)(iii) to work with industry-partner(Nerve Tumours UK) to modify the app 'Teachbrite' (https://psyc.bbk.ac.uk/teachbrite/evolutionstudy/info.php) developed by Prof Jones' team at Birkbeck College London to study motor development in a community sample of children with NF1. The student will use eye-tracking, accelerometery, neurocognitive, and behavioural measures to investigate and extend knowledge on the motor phenotype in NF1. Data from the NF1 cohort will then be compared to low risk community samples allowing us to identify early risk biomarkers that may be associated with poor motor development at 3 years. Such markers will then be used to predict risk for motor difficulties, for clinical stratification and to define intervention targets in treatment trials. The doctoral project will be embedded within two larger studies (i) a larger MRC programme Grant (Jones) investigating infancy neurocognitive development (ii) the EDEN (Early Development in Neurofibromatosis. Training will be provided in developmental, experimental and behavioural assessments. The student will spend 12 weeks at the world renowned Birkbeck babylab, London under the supervision of Jones and Begum Ali, where they will be trained in the collection of eye tracking and accelerometery in infants and toddlers. The student will benefit from clinical links and expertise in child neurodevelopment and strong links to clinical genetics expertise in Manchester.
1型神经纤维瘤病是一种常见的常染色体显性单基因神经发育障碍,其出生发生率为1:2700。它是由染色体17q11.2上的NF1基因突变引起的,该基因在细胞内信号传导、学习和突触可塑性中起重要作用。运动、认知和学习问题在NF1中很常见,自闭症谱系障碍(ASD)的患病率约为25%,注意缺陷多动障碍(ADHD)的患病率约为50%。运动困难包括粗大和精细运动障碍,平衡和协调困难在NF1中经常被报道。这些障碍影响生活质量、学习功能、同伴和社会关系。新兴研究表明,运动障碍可能是ASD表型的一个组成部分。虽然NF1中经常报道运动障碍,但运动发展的轨迹尚未得到很好的理解。了解发展轨迹对于早期诊断和干预非常重要。了解运动发育的轨迹以识别早期迹象可能有助于制定早期康复方法,从而改善NF1中出现的运动、认知和行为困难。这个博士项目是与我们的慈善行业合作伙伴英国神经肿瘤协会(https://nervetumours.org.uk/)合作的。本研究的目的是:(i)使用马伦早期学习量表和家长报告的数据,确定NF1婴儿5个月至3岁的运动发展轨迹,并将其与低风险对照组进行比较;(iii)检查客观测量的加速度计得出的活动轨迹,以模拟运动稳定性(摇摆、猛然、(iii)与行业合作伙伴(英国神经肿瘤)合作,修改由伦敦伯克贝克学院琼斯教授团队开发的应用程序“Teachbrite”(https://psyc.bbk.ac.uk/teachbrite/evolutionstudy/info.php),以研究NF1儿童社区样本的运动发育。该学生将使用眼动追踪、加速计、神经认知和行为测量来调查和扩展NF1运动表型的知识。然后将NF1队列的数据与低风险社区样本进行比较,使我们能够识别可能与3岁时运动发育不良相关的早期风险生物标志物。然后,这些标记将用于预测运动困难的风险,用于临床分层,并在治疗试验中确定干预目标。该博士项目将嵌入到两个更大的研究中:(i)一个更大的MRC项目Grant (Jones)调查婴儿神经认知发展(ii) EDEN(神经纤维瘤病的早期发展)。将提供发展、实验和行为评估方面的培训。这名学生将在世界著名的伦敦伯克贝克婴儿实验室度过12周,在琼斯和贝古姆·阿里的监督下,在那里他们将接受婴儿和幼儿眼球追踪和加速度测量收集方面的培训。该学生将受益于儿童神经发育的临床联系和专业知识,以及与曼彻斯特临床遗传学专业知识的紧密联系。
项目成果
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其他文献
吉治仁志 他: "トランスジェニックマウスによるTIMP-1の線維化促進機序"最新医学. 55. 1781-1787 (2000)
Hitoshi Yoshiji 等:“转基因小鼠中 TIMP-1 的促纤维化机制”现代医学 55. 1781-1787 (2000)。
- DOI:
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LiDAR Implementations for Autonomous Vehicle Applications
- DOI:
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2021 - 期刊:
- 影响因子:0
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吉治仁志 他: "イラスト医学&サイエンスシリーズ血管の分子医学"羊土社(渋谷正史編). 125 (2000)
Hitoshi Yoshiji 等人:“血管医学与科学系列分子医学图解”Yodosha(涉谷正志编辑)125(2000)。
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Effect of manidipine hydrochloride,a calcium antagonist,on isoproterenol-induced left ventricular hypertrophy: "Yoshiyama,M.,Takeuchi,K.,Kim,S.,Hanatani,A.,Omura,T.,Toda,I.,Akioka,K.,Teragaki,M.,Iwao,H.and Yoshikawa,J." Jpn Circ J. 62(1). 47-52 (1998)
钙拮抗剂盐酸马尼地平对异丙肾上腺素引起的左心室肥厚的影响:“Yoshiyama,M.,Takeuchi,K.,Kim,S.,Hanatani,A.,Omura,T.,Toda,I.,Akioka,
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