Knowledge of hereditary deafness treatment

  Deafness is a common clinical disease that has been plaguing human beings, causing much trouble to society and families and consuming a lot of human and material resources. The World Health Organization estimates that 250 million people worldwide suffer from moderate hearing loss or more, and the second national sample survey of people with disabilities in 2006 projected that the total number of people with various disabilities in the country was 82.96 million, of whom 20.04 million had hearing disabilities and 1.27 million had speech disabilities, accounting for the highest number of all kinds of disabilities, and growing at the rate of 23,000 newborn deaf children every year. Most of these deaf children are genetically deaf, so what should we do if we have such children at home?  First of all, the diagnosis should be clear. The first step is to perform a detailed audiological examination, an impact study, including brainstem evoked potentials, multifrequency steady-state potentials, DPOAE, and acoustic impedance, to understand the child’s hearing loss, and an imaging study to identify any malformations in the cochlea and other organs. If these tests do show abnormalities, then relevant genetic tests are also needed to find the cause of the deafness. About 80% of deafness due to genetic factors is autosomal recessive deafness, of which 70-80% is non-syndromic deafness, 15%-24% is autosomal dominant pattern of inheritance, and the remaining 1%-2% is X-linked pattern of inheritance. Maternal genetic deafness onset is mostly associated with aminoglycoside antibiotic triggers, and inappropriate medication can cause severe sensorineural deafness in sensitive individuals. On the other hand hereditary deafness includes non-syndromic deafness and syndromic deafness. Non-syndromic deafness is defined as the basic absence of abnormalities other than hearing impairment, and syndromic deafness is a genetic syndrome in which hearing impairment constitutes only one of multiple clinical symptoms throughout the body. Non-syndromic deafness is more prevalent and is the most common cause of inherited deafness. Non-syndromic deafness can be classified by mode of inheritance as autosomal dominant, autosomal recessive, X-linked, and mitochondrial. Three genes, GJB2, SLC26A4 and 12S rRNA, are the most common causes of hereditary deafness. After the cause is identified then how to treat the affected child? Nowadays, for most children who are congenitally deaf and have a total loss of hearing, hearing can be obtained through cochlear implants. However, a cochlear implant must be performed as soon as possible to stimulate the auditory nerve and give the child the ability to speak. Based on our cochlear implants, we have found that the earlier the cochlear implant, the better the child’s speech ability. If the child has partial residual hearing, then you will need to give the child a hearing aid and note that if the child has recently experienced a sudden loss of hearing, he will need to be given medication to restore his hearing. Cochlear implants are also needed when there is a complete loss of hearing. Therefore, if these causes of deafness are identified, it is possible to intervene early to prevent the child from becoming deaf and mute. Our hospital experience shows that with early intervention, most deaf children are able to open their mouths and speak as well as normal children and return to society. Also, if the cause is identified, childbirth can be guided. For example, now with the liberalization of the second child, some parents need to have another child, and if we identify the cause, then we can guide them on how to get a healthy hearing baby. For example, if the baby is deaf due to an abnormal GJB2, SLC26A4 gene, which is an autosomal recessive disorder. The baby’s parents may both carry the gene, and there is still a 25% chance that their parents will have a deaf baby, a 50/50 chance of having a baby with normal hearing, and a 25% chance of having a normal baby. We can find out if the baby is normal at the embryonic stage by taking amniotic fluid after pregnancy to test for genes in order to have a deaf baby, or we can even have a healthy baby by using artificial IVF techniques to check for genes at the fertilized egg stage and then implanting a normal fertilized egg into the mother’s uterus.  Therefore, hereditary deafness is not scary, what is scary is that you don’t know the cause of the disease and delay the treatment of the disease. As long as we detect it early and intervene early, there is still a treatment for most deafness. And whether it is the electronic cochlear technology or the gene detection method, although it is a most advanced method, it is also a more reliable technology, which has been routinely carried out in large and medium-sized hospitals in China, so even if you carry this gene, or have already given birth to a deaf baby, you don’t have to worry about it, technology will change all this, and with the advancement of gene therapy technology, it is possible that some more With the advancement of gene therapy technology, it is possible that some more advanced technology will be applied and you will have even less to worry about.