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方案、康复预后的信息，以及为家庭提供有关病因和复发风险的更完整信息，有可能显著改善该过程。然而，在基因检测应该普遍应用之前，重要的是要了解何时将这种检测和咨询引入到这个过程中，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，关于测试和信息提供接近家庭的时间将影响父母对基因测试的兴趣、父母对所提供信息的理解以及与信息相关的焦虑。此外，在Cx26基因检测普遍应用之前，重要的是要了解在单一基因座的异质性条件下基因检测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。与遗传倾向有关的预后信息的准确性和完整性与仔细控制的表型研究的数量有关。目前，缺乏对婴儿和儿童听力和相关特征（表型）的大规模研究，缺乏准确的基因型信息，这使得听力健康界无法全面了解双等位基因Cx26突变的婴儿。本研究采用前瞻性纵向设计，比较在EHDI过程中两个阶段引入遗传咨询和检测的有效性，一个是在住院筛查失败后但最终诊断前（诊断前），另一个是在听力学诊断听力损失后（诊断后）。将对一大批主要听力正常的父母进行长达6个月的随访，以全面评估基因检测和咨询的教育和心理结果。将对一个大的婴儿和幼儿队列进行长达三年的随访，以全面评估婴儿的听力表型，并将根据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.