Rehabilitation of cochlear implants for hereditary deafness

Improving the etiology of hereditary deafness and improving the rehabilitation efficacy of CI There are many shortcomings in the current research on the rehabilitation of hereditary deafness after cochlear implantation. The genetic etiology of deafness is not completely clear, and about 44% of CI patients have autosomal recessive deafness, together with other genetic deafness, the incidence of genetic deafness theoretically accounts for about 60% of the entire deaf population, and about 10% of patients need further research. The majority of patients with hereditary deafness have achieved good results in hearing and speech rehabilitation through CI, but there are also those with poor or ineffective results. Further analysis of the reasons for the differences in outcomes is needed, as well as further improvement of the performance of cochlear implants to accommodate patients with hereditary deafness of various molecular pathogenesis. CI also has many limitations, for example, although CI can solve many problems of hearing impairment due to genetic factors, the expensive cost and poor results in some patients after implantation make it difficult for many patients and families to accept, so there is also a need to find other effective treatments for sensorineural deafness, such as stem cell transplantation, hair cell regeneration, and gene therapy for deafness. Active exploration of prevention strategies and precision medicine treatment for hereditary deafness Active prevention is an effective way to solve the difficult problem of hereditary deafness, and before the advent of pre-implantation diagnosis technology for hereditary deafness, amniotic chorionic villus and amniotic fluid or fetal umbilical cord blood were generally chosen for prenatal diagnosis of deafness genes at 11-22 weeks of gestation. The process of biopsy and genetic analysis is performed to select genetically normal embryos for transfer to obtain a healthy next generation, which is commonly known as third generation IVF. This case is the first time that the most advanced single cell whole genome amplification technology and next generation sequencing technology have been applied to PGD for genetic deafness. The advantage of this technology is that it can amplify microscopic tissues of early embryos in a balanced manner and diagnose single gene genetic deafness while scanning all chromosomes precisely. It can also detect chromosomal aneuploidy and copy number variation using whole genome second generation sequencing, and can identify chromosomal microsegment abnormalities; it can not only detect and avoid birth defects caused by common chromosomal abnormalities such as Down’s syndrome, but also screen to exclude The MALB test not only detects and avoids birth defects caused by Down’s syndrome and other common chromosomal abnormalities, but also screens out embryos with complex chromosomal fragment deletions and duplications to avoid post-implantation miscarriage and fetal abortion caused by chromosomal abnormalities and to improve the implantation survival rate. The most advanced international MALBAC technology can improve the homogeneity of amplified DNA products, avoid misdiagnosis caused by gene fragment loss, and has low technical bias and high sensitivity, which is suitable for detecting monogenic diseases. In addition, gene therapy, a precision medicine treatment for sensorineural deafness, is also a hot research topic, but it is currently in the animal experiment stage. It is believed that a breakthrough will be made in this field in the future, making gene therapy for human deafness possible. In conclusion, most of the patients with hereditary deafness (severe/very severe sensorineural deafness) have achieved good results after receiving CI and auditory speech rehabilitation, and the rehabilitation effect is related to the different deafness-causing genes; while CI is actively performed to rehabilitate hereditary deafness, precision medicine treatment and prevention strategies for hereditary deafness should be actively explored.