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

基本信息

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
项目类别：
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

项目摘要

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/轻度感音神经性听力障碍 (HI) 影响至少 180,000 名美国学龄儿童。尽管中度重度HI的遗传学取得了快速进展，但人们对单基因突变对轻微/轻度非综合征性HI的贡献或此类HI对儿童结局的影响知之甚少。广泛、长期的目标：这个大型项目将在澳大利亚维多利亚州进行，将是迄今为止解决轻度儿童听力障碍的影响和遗传学的最全面的研究。目的：在小学学龄儿童的大型社区样本中，我们的目标是 (1) 描述轻微/轻度 HI 和 Connexin 26（两种最常见的“耳聋基因”）和 Pendrin 突变之间的关系，以及轻微/轻度 HI 的影响你好; （2）制定并试行使用DNA标本对轻度/轻度HI小学生进行基因检测的知情同意程序； (3) 描述基因检测对患有轻度/轻度HI的小学生及其家庭的影响； (4) 制定和评估提供遗传信息时的教育和咨询方法。研究设计和方法：为了确定患病率，我们将对大约 6,000 名小学适龄儿童（一年级和五年级）进行听力筛查。从这个基础队列中，大约 180 名患有轻度/轻度听力损失的儿童（“病例”）和另外 360 名听力正常的儿童（“对照”）将接受评估，以实现目标 1。这将包括测试两个感兴趣的“耳聋基因” ，评估语言、学业、认知和社会/生活质量结果，并自我报告任何听力问题。在之前的一项小型定性研究中，将探讨与患有和不患有 HI 的儿童家庭中的基因检测相关的问题。然后，我们将开发、试验和评估信息和知情同意程序、反馈和咨询程序（目标 3 和 4）。意义：如果发现 Cx26 和/或 Pendrin 会导致轻度/轻度 HI，那么这可能会深刻改变 (a) 我们目前向通过纯合子 Cx26 或 Pendrin 耳聋儿童确定的家庭提供的建议和咨询，以及 (b) 方法到未来的人口筛查。