Clinical and otological characterization of mitochondrial deafness linked to the a1555g mutation in Kayi Singini in the Democratic Republic of Congo.
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Abstract
Introduction : Deafness necessarily leads to communication and behavioral disorders which reflect the seriousness of this disability. Its early onset in childhood impairs language development. Thus deafness constitutes a burden for society which must take care of people living with this disability. The objective was to characterize the epidemiological, clinical and audiological aspects of subjects from the Phemba Tsimba matrilineal lineage from the Kayi Singini village living in Kinshasa.
Methods : this was a cross-sectional study, focusing on the matrilineal descendants of the Phemba Tsimba lineage, of Kayi Singini. These are hearing impaired and normally hearing subjects, living in Kinshasa and listed by the NGO “Action for the deaf of Kayi Singini” (ASKASIN).
Results : Our results relate to 80 subjects examined including 32 men (40%) and 48 women (60%). The sex ratio is 1.5. The average age is 32.9±16.9 years. The highest frequencies are observed in the age groups 10-19 and 50-59 years. The incidence of the notion of the occurrence of deafness increases with the advancing age of individuals. The notion of deafness is only present in their matrilineal parent. The audiometric conclusions are identical (p>0.05) for both ears. Moderate deafness is more prevalent (p < 0.05) in the right ear than in the left ear. The audiological data are suggestive of bilateral sensorineural hearing loss in 72.5% of subjects (n=58). Proven sensorineural hearing loss is present in 34 (42.5%) of our subjects. The earlier deafness is caught, the less language develops.
Conclusion : Kayi Singini's familial deafness affects both sexes indiscriminately. This deafness begins at a young age and progresses insidiously. Kayi Singini's deafness is transmitted through her mother only. It is a sensorineural hearing loss predominant on high frequencies, bilateral and of gradual onset.
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