Early detection of hearing problems in children is key to obtaining the best possible treatment as soon as possible to improve their quality of life.
In Europe, between 60-80 percent of hearing losses that
children have at birth are of genetic origin. That is why it is great news to learn about the European Ghelp project, led by the University of Navarra Clinic, which has developed a genetic study platform for the correct diagnosis of hearing loss .
This is a transnational cooperation investigation developed by eight entities from Spain, Portugal and France, and co-financed by the European Interreg Sudoe Program, which today presented its results.
“We have implemented a genetic study tool to the studies that are done in a child at birth looking for if there is a hearing loss or not. Adding these genetic tests to the auditory ones gives us information about the cause of this hearing loss ”, explains Dr. Manuel Manrique, director of the Department of Otolaryngology at the Clinic and coordinator of the project. “Using a tool of these characteristics is very interesting because it helps to know the cause of hearing loss and that in medicine is tremendously important to correctly focus these conditions and offer early and personalized treatments,” he adds.
The therapeutic options, such as hearing aids, cochlear implants or auditory brainstem implants, are wide, so it is necessary to study which is the most appropriate for each case . Thanks to this genetic analysis, the specialists obtain the necessary causal information to establish a rapid therapeutic indication, in addition to being able to carry out genetic counseling to the family.
Analyze 180 genes related to hearing loss
The GHELP genetic panel makes it possible to study, with a simple blood sample from the newborn, the 180 most relevant genes related to hearing loss.
During three years, the project has carried out the analysis of approximately 500 people affected by non-acquired hearing loss.
Among the main conclusions, “we have seen that 55% have an autosomal recessive transmission pattern (when the child has a mutated gene from each parent), while 22.7% show a dominant gene. Furthermore, we have been able to establish a certain diagnosis in more than 32% of the participants ”, points out Dr. Ana Patiño, director of the Clinical Genetics Unit, together with Dr. Gorka Alkorta, of the Genomics Unit of CIMA LAB Diagnostics from the University of Navarra.
Benefits of an early diagnosis
The implementation of this genetic diagnosis panel, developed by CIMA Lab Diagnostics and the Asturian company Dreamgenics, speeds up the obtaining of a diagnosis , thus allowing an early treatment of hearing loss. Something fundamental especially in those children with prelingual hearing loss, that is, those with hearing loss before they begin to speak, since “starting treatment in these cases before one year will avoid permanent negative effects on communicative, cognitive and social development” , acknowledges Dr. Manrique.
In addition to the genetic study, the Ghelp project has analyzed the economic, social and health feasibility of implementing this tool, verifying that it not only reduces the time of diagnosis, but also the costs derived from it, thanks to the saving of tests and subsequent visits.
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