Razlike v stanju sluha, komunikacije in razumljivosti govora pri gluhih in naglušnih osebah zaradi bolezenske spremembe gena GJB2 : magistrsko delo

Švigelj, Gaja (author), Battelino, Saba (mentor), Trebušak Podkrajšek, Katarina (co-mentor)

Okvara sluha je najpogostejša prirojena motnja na svetu. Genetske okvare sluha predstavljajo približno 50–60 % vseh okvar sluha, 70 % izmed njih je nesindromskih. Med njimi je avtosomno recesivno podedovana bolezenska sprememba c.35delG gena GJB2, ki je v homozigotni obliki najpogostejši vzrok genetskih okvar sluha v Evropi in na Mediteranu ter tudi v Sloveniji. Zaradi pogostosti te bolezenske spremembe smo v raziskavi želeli opredeliti razlike v stanju sluha in vrsti slušne rehabilitacije gluhih in naglušnih oseb z bolezensko spremembo c.35delG gena GJB2 v homozigotni obliki v Sloveniji ter preveriti razumljivost njihovega govora v vsakdanjem življenju. V raziskavo smo vključili 65 oseb s potrjeno bolezensko spremembo c.35delG gena GJB2 v homozigotni obliki, ki so vodeni na Kliniki za otorinolaringologijo in cervikofacialno kirurgijo, UKC Ljubljana. Podatke o stanju sluha, napredovanju izgube sluha in vrsti slušne rehabilitacije smo pridobili iz njihove zdravstvene dokumentacije, razumljivost govora pa smo preverjali z Lestvico razumljivosti govora v vsakdanjem življenju za slovenščino (angl. Intelligibility in Context Scale, ICS). Ugotovili smo, da obstajajo razlike v klinični sliki znotraj skupine oseb z bolezensko spremembo c.35delG gena GJB2 v homozigotni obliki, ki se kažejo tako v stopnji okvare sluha, (najpogosteje zelo težke stopnje oz. popolna gluhost pri 70,7 % oseb) kot pri nastopu okvare sluha (80 % oseb s prelingvalno okvaro sluha). Potrdili smo, da obstajajo razlike v vrsti slušne (re)habilitacije, saj 61,5 % oseb uporablja polžev vsadek (PV), 38,5 % oseb pa klasični slušni aparat (SA). Dokazali smo tudi statistično pomembno razliko med prvo in zadnjo meritvijo sluha, torej statistično pomemben upad sluha pri osebah z bolezensko spremembo c.35delG gena GJB2 v homozigotni obliki. Z lestvico ICS smo preverjali razumljivost govora oseb s to bolezensko spremembo. Pri primerjavi razumljivosti govora glede na vrsto slušne (re)habilitacije nismo dokazali statistično pomembne razlike v razumljivosti govora med uporabniki PV in uporabniki SA. Prav tako nismo ugotovili statistično pomembne korelacije med stopnjo razumljivosti govora pri gluhih ali naglušnih otrocih z bolezensko spremembo c.35delG gena GJB2 v homozigotni obliki do starosti 18 let in trajanjem gluhosti. Ugotovili smo torej, da daljši čas med nastopom gluhosti in vstavitvijo PV ne pomeni nujno tudi nižje stopnje razumljivosti govora.

• Language: Slovenian
• Keywords: Izguba sluha, razumljivost govora, gluhi in naglušni, c.35delG gena GJB2, lestvica ICS
• Work type: Master's thesis/paper
• Typology: 2.09 - Master's Thesis
• Organization: PEF - Faculty of Education
• Year: 2022
• Number of pages: IX, 59 str., [4] str. pril.
• PID: 20.500.12556/RUL-143242
• UDC: 376:616.28-008.14(043.2)
• COBISS.SI-ID: 133282051
• Publication date in RUL: 09.12.2022

Secondary language

• Language: English
• Title: Differences in Hearing, Communication and Speech Intelligibility in Deaf and Hard of Hearing Individuals Due to GJB2 Gene Mutation

Abstract

Hearing loss is the most common congenital disorder in the world, and up to 60% of all cases have a genetic background. Of these, around 70% are non-syndromic. The most common genetic variant causing hearing loss in European and Mediterranean population, is the c.35delG variant in the GJB2 gene in homozygous state. Due to the high frequency of this variant, the aim of this study was to determine the differences in the hearing status and the type of auditory rehabilitation of the deaf and hard of hearing people in Slovenia, who are homozygous for c.35delG mutation in the GJB2 gene, as well as to determinate their speech intelligibility in everyday life. In this study, we included a cohort of 65 people, who were previously confirmed to have the c.35delG mutation in the GJB2 gene in a homozygous state, and who are managed at the Clinic for Otorhinolaryngology and Cervicofacial Surgery at the University Clinical Center of Ljubljana. Data on hearing status, progression and type of auditory rehabilitation were obtained at the clinic in the persons' medical records. To determine their speech intelligibility, we used the Intelligibility in Context Scale for Slovenian (ICS). We found that there are differences in both the severity of hearing loss as well as the onset of hearing loss in our cohort. The severity of hearing loss ranged from moderate to profound, with the latter being the most prevalent (70,7% of our cohort), while the onset of hearing loss was mostly prelingual (80% of the cohort). We also confirmed that there are differences in the type of hearing (re)habilitation of the people in our cohort, since 61,5% of people with this mutation are cochlear implant users, while the remaining 38,5% use conventional hearing aids. We have also proven the statistically significant difference between the first and last hearing measurement (the results of PTA or ABR/ASSR), thereby proving a statistically significant decline in hearing (progression) in the cohort. With the ICS scale, we determined the speech intelligibility of the people included in this study. When comparing speech intelligibility according to the type of hearing (re)habilitation, we could not demonstrate a statistically significant difference in speech intelligibility between cochlear implant users and conventional hearing aid users. We also did not find a statistically significant correlation between the level of speech intelligibility in deaf or hard-of-hearing children (up to 18 years old) with this mutation and the duration of deafness. We can therefore conclud that longer period between the onset of deafness and implantation does not necessarily mean a lower level of intelligibility of a person's speech.

• Keywords: Hearing loss, Speech Intelligibility, Deaf and hard of hearing, c.35delG variant in the GJB2 gene, ICS