Epidemiologia, aspetti genetici e clinici nei neonati con familiarità per ipoacusia: esperienza di un centro di terzo livello

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Abstract

[automatically translated] INTRODUCTION Relief frequently in people with sensorineural hearing loss (SNHL) is a 'family history of hearing loss, related to genetic mutations, not always easily identified, responsible for hearing loss. The genetic etiology total accounts for 50-60% of all cases of deafness. Stand syndromic and non-syndromic forms, the latter classified according to different transmission mode. In 50-80% of cases an interesting mutation of the gene for connexin 26 (GJB2) can be found on chromosome 13, which is now known, encodes a protein called into question in the transduction of the sound stimulus. The same function appears to be carried out by the connexin 30 (GJB6), and connexin 31 (GJB3). In individuals with genetic hearing loss is observed in a wide variabilit¨¤ audiological profile and the clinical course in relation to the genes involved and the type of mutation. In fact, it can be found a hearing loss of variable degree from moderate to deep, present at birth or arising in subsequent periods, variable clinical progression. MATERIALS AND METHODS The prominent role played by genetic factors in the development of hearing loss can be seen from the results relative to our series, made up of 412 children (with age at diagnosis between 1 and 6 months) exposed to risk factors for SNHL in the prenatal and perinatal period. RESULTS: In 41 cases (9.95% of the population in question) has been identified a family history of hearing loss, and among these, in 15 subjects (36, 7%) was detected with hearing loss. Statistical analysis revealed a significant difference between the exposed and non-exposed to this factor (x2 = 28.56, p <0.0001) in confirmation of the descrtitto in literature namely that a family history of hearing loss is in itself a independent risk factor for deafness. Hearing loss was found to be in 100% of cases of sensorineural and cochlear headquarters, mainly of deep degree (with an average value of 100,69¡À16.46 dB HL), interesting both ears (93.33%). All subjects identified as deaf underwent genetic investigation and in some cases it was possible to trace the mutations responsible for this pathological picture (mainly dependent on the GJB2 gene). CONCLUSIONS Given the high incidence, its role among the risk factors in causing deafness, frequent severity of hearing loss associated with it, familiarity requires particular attention by a careful history and a genetic counseling aimed at early recognition of this condition and the possible hearing loss associated with it. This allows, especially in preverbal to onset forms, the implementation of those rehabilitation principals and so a correct language development, cognitive and, ultimately, the child's social. medical history and genetic counseling aimed at early recognition that condition and possible hearing loss associated with it. This allows, especially in preverbal to onset forms, the implementation of those rehabilitation principals and so a correct language development, cognitive and, ultimately, the child's social. medical history and genetic counseling aimed at early recognition that condition and possible hearing loss associated with it. This allows, especially in preverbal to onset forms, the implementation of those rehabilitation principals and so a correct language development, cognitive and, ultimately, the child's social.
Original languageItalian
Number of pages1
Publication statusPublished - 2012

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