Genetics of Mild Hearing Loss in children Aged 6-12 yrs

6-12 岁儿童轻度听力损失的遗传学

• 批准号: 6795886
• 负责人: MELISSA WAKE
• 金额: $ 9.04万
• 依托单位: MURDOCH CHILDREN'S RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-09-25 至 2005-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6795886
• 关键词: Australia; academic achievement; audiometry; child (0-11); clinical research; cognition; family genetics; gene expression; gene mutation; genetic screening; genotype; hereditary sensory neuropathy; high performance liquid chromatography; human genetic material tag; human subject; language; neurogenetics; phenotype; polymerase chain reaction; quality of life; questionnaires; sensorineural hearing loss

DESCRIPTION (provided by applicant): The Problem: Slight/mild sensorineural hearing impairment (HI) affects at least 180,000 US school-aged children. Although rapid advances have been made in the genetics of moderate-profound HI, little is known about the contributions of single gene mutations to slight/mild nonsyndromic Hl, or of the impacts of such HI on child outcomes. BROAD, LONG-TERM OBJECTIVES: This large-scale project, to be carried out in Victoria, Australia, will be the most comprehensive study yet to address the impacts and genetics of mild childhood hearing impairment. AIMS: In a large community sample of elementary school-aged children, we aim to (1) Describe relationships between slight/mild HI and Connexin 26 (the two most common "deafness genes") and Pendrin mutations, and impacts of slight/mild HI; (2) Develop and trial informed consent procedures on the use of DNA specimens for genetic testing for elementary school children with slight/mild HI; (3) Describe the impact of genetic testing on elementary school children with slight/mild HI and their families; and (4) Develop and evaluate education and counseling approaches when providing genetic information. RESEARCH DESIGN & METHODS: To establish prevalence, we will screen the hearing of approximately 6,000 elementary school-aged children (Years 1 and 5). From this base cohort approximately 180 children with slight/mild HI ("cases") and a further 360 children with normal hearing ("controls") will undergo assessment to address Aim 1. This will include testing the two "deafness genes" of interest, assessing language, academic, cognitive and social/quality of life outcomes, and self-reporting any problems with hearing. In a small preceding qualitative study, issues related to genetic testing in families of children with and without HI will be explored. We will then develop, trial and evaluate information and informed consent procedures, feedback, and counseling procedures (Aims 3 & 4). SIGNIFICANCE: If Cx26 and/or Pendrin is found to contribute to slight/mild HI, then this might profoundly alter (a) the advice and counseling we currently provide to families identified through a child with homozygous Cx26 or Pendrin deafness and (b) approaches to future population screening.

描述（由申请人提供）：问题：轻微/轻度的感觉性听力障碍（HI）影响至少18万名美国学龄儿童。尽管在中等构造的HI的遗传学中已经取得了快速的进步，但对单基因突变对轻度/轻度非综合性HL的贡献或此类HI对儿童结果的影响知之甚少。广泛的长期目标：将在澳大利亚维多利亚州进行的这个大规模项目将是尚未解决轻度童年听力障碍的影响和遗传学的最全面的研究。目的：在大型小学儿童的大型社区样本中，我们的目标是（1）描述轻度/轻度HI和连接蛋白26（两个最常见的“耳聋基因”）和Pendrin突变之间的关系，以及轻度/轻度HI的影响； （2）开发和试用知情同意程序，用于使用DNA标本用于小学/轻度HI的小学儿童的基因测试； （3）描述基因测试对小/轻度HI及其家人的小学儿童的影响； （4）在提供遗传信息时开发和评估教育和咨询方法。研究设计与方法：为了确立患病率，我们将筛选大约6,000名小学生的听证会（1年和5年级）。从这个基本队列中，大约180名患有轻微/轻度HI（“病例”）的儿童和另外360名具有正常听力的儿童（“对照”）将接受评估以解决目标1。这将包括测试感兴趣的两个“耳聋基因”，评估语言，学术，认知和社会/社会/社会/社会/社会质量的生活效果以及自我报告的听力问题。在一项先前的定性研究中，将探讨与有和没有HI的儿童家庭基因检测有关的问题。然后，我们将开发，试用和评估信息以及知情同意程序，反馈和咨询程序（目标3和4）。意义：如果发现CX26和/或Pendrin有助于轻微/轻度HI，那么这可能会深刻地改变（a）我们目前通过具有纯合CX26或Pendrin聋哑的孩子提供的建议和咨询的建议和咨询，以及（B）对未来人口筛查的方法。

项目成果

Enhancing the ethical conduct of genetic research: investigating views of parents on including their healthy children in a study on mild hearing loss.

加强基因研究的道德行为：调查家长对将健康孩子纳入轻度听力损失研究的看法。

• DOI: 10.1136/jme.2005.013201
• 发表时间: 2006
• 期刊: Journal of medical ethics
• 影响因子: 4.1
• 作者: Gillam,L;Poulakis,Z;Tobin,S;Wake,M
• 通讯作者: Wake,M