Connexin 26 Testing in Infants

描述（由申请人提供）：将遗传信息纳入早期听力检测和干预（EHDI）过程中，通过提供有关病例管理和鉴别诊断的适当协议的信息，康复预后以及通过为家庭提供有关病因和复发风险的更完整信息，有可能极大地改善该过程。然而，在普遍应用基因检测之前，重要的是要了解何时在过程中引入这种检测和咨询，这些决定应该基于科学研究和数据。相对于EHDl过程中的其他事件，与家庭接触有关检测和提供信息的时间将影响父母对基因检测的兴趣，父母对所提供信息的理解以及与信息相关的焦虑。此外，在普遍应用Cx26基因检测之前，重要的是要了解基因检测在单一位点对异质条件的局限性如何影响父母的理解、焦虑和感知的个人控制。只有通过前瞻性的纵向研究设计，才能获得与这些重要问题有关的数据。与遗传倾向相关的预后信息的准确性和完整性与精心控制的表型调查的数量有关。目前，缺乏对婴幼儿听力及相关特征（表型）的大规模研究，缺乏准确的基因型信息，使得听力卫生界无法对双等位基因Cx26突变婴儿有一个完整的了解。本研究采用前瞻性、纵向设计来比较在EHDI过程的两个阶段引入遗传咨询和检测的效果，一个是在住院筛查失败但最终诊断之前（诊断前），另一个是在听力损失的听力学诊断之后（诊断后）。一大批主要听力正常的父母将被跟踪长达6个月，以充分评估基因检测和咨询的教育和心理结果。将对一大批婴幼儿进行长达三年的随访，以充分评估婴儿的听力学表型，并根据Cx26基因型对数据进行比较。

DESCRIPTION (provided by applicant): The incorporation of genetic information into the early hearing detection and intervention (EHDI) process has the potential to dramatically improve the process by providing information regarding appropriate protocols for case management and differential diagnosis, prognosis for rehabilitation and by providing more complete information for families regarding etiology and recurrence risk. However, before genetic testing should be applied universally, it is important to understand when to introduce such testing and counseling into the process and these decisions should be based on scientific study and data. Relative to other events in the EHDl process, the time at which the family is approached regarding testing and the provision of information will influence parental interest in genetic testing, parental understanding of information provided, and the anxiety associated with the information. Further, before Cx26 genetic testing is applied universally, it is important to understand how the limitations of genetic testing at a single locus for a heterogeneous condition influences parental understanding, anxiety, and perceived personal control. Only through prospective, longitudinal research designs will data bearing on these important issues be available. The accuracy and completeness of information regarding prognosis relative to genetic disposition is linked to the amount of carefully controlled phenotype investigations. At present, a lack of large-scale studies of the hearing and related characteristics (phenotype) of infants and children with accurate genotypic information have denied the hearing health community with a complete picture of the infant with biallelic Cx26 mutations. This study employs a prospective, longitudinal design to compare the efficacy of introducing genetic counseling and testing at two stages in the EHDI process, one after failure on inpatient screening but before final diagnosis (pre-diagnosis) and the other following audiologic diagnosis of hearing loss (post-diagnosis). A large cohort of predominantly hearing parents will be followed for up to 6 months to fully evaluate the educational and psychological outcomes of genetic testing and counseling. A large cohort of infants and toddlers will be followed for up to three years to fully evaluate the audiologic phenotype of infants and data will be compared based on Cx26 genotype.