Centre for Academic Child Health, University of Bristol, Bristol, UK
Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.
BMJ Open. 2024 May 16;14(5):e085237. doi: 10.1136/bmjopen-2024-085237.
Around 2000 children are born in the UK per year with a neurodevelopmental genetic syndrome with significantly increased morbidity and mortality. Often little is known about expected growth and phenotypes in these children. Parents have responded by setting up social media groups to generate data themselves. Given the significant clinical evidence gaps, this research will attempt to identify growth patterns, developmental profiles and phenotypes, providing data on long-term medical and educational outcomes. This will guide clinicians when to investigate, monitor or treat symptoms and when to search for additional or alternative diagnoses.
This is an observational, multicentre cohort study recruiting between March 2023 and February 2026. Children aged 6 months up to 16 years with a pathogenic or likely pathogenic variant in a specified gene will be eligible. Children will be identified through the National Health Service and via self-recruitment. Parents or carers will complete a questionnaire at baseline and again 1 year after recruitment. The named clinician (in most cases a clinical geneticist) will complete a clinical proforma which will provide data from their most recent clinical assessment. Qualitative interviews will be undertaken with a subset of parents partway through the study. Growth and developmental milestone curves will be generated through the DECIPHER website (https://deciphergenomics.org) where 5 or more children have the same genetic syndrome (at least 10 groups expected).
The results will be presented at national and international conferences concerning the care of children with genetic syndromes. Results will also be submitted for peer review and publication.
英国每年约有 2000 名儿童患有神经发育性遗传综合征，发病率和死亡率显著增加。这些儿童的预期生长和表型通常知之甚少。家长们通过建立社交媒体群组来自己生成数据做出了回应。鉴于存在重大的临床证据差距，本研究将尝试确定生长模式、发育特征和表型，提供有关长期医疗和教育结果的数据。这将为临床医生提供指导，以便何时进行调查、监测或治疗症状，以及何时寻找其他或替代诊断。
这是一项观察性、多中心队列研究，招募时间为 2023 年 3 月至 2026 年 2 月。符合条件的儿童为 6 个月至 16 岁之间，其体内存在特定基因的致病性或可能致病性变异。将通过国民保健制度和自我招募来识别儿童。家长或照顾者将在基线时和招募后 1 年完成一份问卷。指定的临床医生（大多数情况下是临床遗传学家）将填写一份临床记录，其中将提供他们最近临床评估的数据。将对部分父母进行定性访谈，时间安排在研究中期。通过 DECIPHER 网站（https://deciphergenomics.org）生成生长和发育里程碑曲线，该网站上有 5 名或更多患有相同遗传综合征的儿童（预计至少有 10 组）。
研究结果将在全国和国际会议上公布，内容涉及遗传综合征患儿的护理。研究结果也将提交同行评审和发表。
