Literatura científica selecionada sobre o tema "Postlingual hearing impairment"

Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in theTMPRSS3gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8).TMPRSS3mutations can be classified as mild or severe, and the phenotype is dependent on the combination ofTMPRSS3mutations. The combination of two severe mutations leads to profound hearing impairment with a prelingual onset, whereas severe mutations in combination with milderTMPRSS3mutations lead to a milder phenotype with postlingual onset. We characterized a Chinese family (number FH1523) with not only prelingual but also postlingual hearing impairment. Three mutations inTMPRSS3, one novel mutation c.36delC [p.(Phe13Serfs⁎12)], and two previously reported pathogenic mutations, c.916G>A (p.Ala306Thr) and c.316C>T (p.Arg106Cys), were identified. Compound heterozygous mutations of p.(Phe13Serfs⁎12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs⁎12). We concluded that different combinations ofTMPRSS3mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in this family.

BackgroundHearing loss is a genetically and phenotypically heterogeneous disorder.ObjectivesThe purpose of this study was to determine the genetic cause underlying the postlingual progressive hearing loss in two Iranian families.MethodsWe used OtoSCOPE, a next-generation sequencing platform targeting >150 genes causally linked to deafness, to screen two deaf probands. Data analysis was completed using a custom bioinformatics pipeline, and variants were functionally assessed using minigene splicing assays.ResultsWe identified two homozygous splice-altering variants (c.37G>T and c.662–1G>C) in the CEACAM16 gene, segregating with the deafness in each family. The minigene splicing results revealed the c.37G>T results in complete skipping of exon 2 and loss of the AUG start site. The c.662–1G>C activates a cryptic splice site inside exon 5 resulting in a shift in the mRNA reading frame.ConclusionsThese results suggest that loss-of-function mutations in CEACAM16 result in postlingual progressive hearing impairment and further support the role of CEACAM16 in auditory function.

Background: Auditory synaptopathy/neuropathy (AS/AN) is a heterogeneous disorder, which may be caused by environmental factors like postnatal hyperbilirubinemia or by genetic factors. The genetic forms are subdivided into syndromic and non-syndromic types, and show different inheritance patterns with a strong preponderance of autosomal-recessive forms. To date, only a single locus for non-syndromic autosomal-dominant AS/AN (AUNA1) has been reported in a single family, in which a non-coding DIAPH3 mutation was subsequently described as causative. Materials and Methods: Here, we report detailed clinical data on a large German AS/AN family with slowly progressive postlingual hearing loss. Affected family members developed their first symptoms in their second decade. Moderate hearing loss in the fourth decade then progressed to profound hearing impairment in older family members. Comprehensive audiological and neurological tests were performed in the affected family members. Genetic testing comprised linkage analyses with polymorphic markers and a genome-wide linkage analysis using the Affymetrix GeneChip® Human Mapping 250K. Results and Conclusion: We identified a large family with autosomal-dominant AS/AN. By means of linkage analyses, the AUNA1 locus was excluded, and putatively linked regions on chromosomal bands 12q24 and 13q34 were identified as likely carrying the second locus for autosomal-dominant AS/AN (AUNA2). AUNA2 is associated with a slowly progressive postlingual hearing loss without any evidence for additional symptoms in other organ systems.

Abstract Introduction Hearing impairment is a common disease worldwide, with a comprehensive impact, and cochlear implantation (CI) is an intervention for profound hearing impairment. Objective To study the outcome one and three years after unilateral CI on hearing, health-related quality of life and level of depression and anxiety, and the correlation between the outcomes. Second, to study whether age, gender, etiology, operated side, residual hearing or cognitive performance can predict the outcome. Methods A prospective longitudinal study including adults with profound postlingual hearing impairment, with respect to hearing (speech recognition), health-related quality of life (Health Utilities Index 3) and level of depression and anxiety (Hospital Anxiety and Depression scale), pre-CI, and one and three years post-CI. The total sample was composed of 40 participants (40% of men), with a mean age of 71 years. Results Speech recognition and the overall health-related quality of life improved one year post-CI (p = 0.000), without correlation (ρ= 0.27), and with no difference three years post-CI. The hearing attribute (in the health-related quality of life instrument) improved one and three years post-CI (p = 0.000). The level of anxiety did not change one and three years post-CI. The level of depression improved one year post-CI (p = 0.036), and deteriorated three years post-CI (p = 0.031). Age, etiology, operated side, residual hearing and cognitive performance did not predict the outcome, but the female gender did significantly improve speech recognition compared with men (p = 0.009). Conclusion The CI significantly improved speech recognition, health-related quality of life and level of depression one year post-CI without mutual correlation, and women performed significantly better than men. There were no further improvements three years post-CI, apart from the hearing attribute.

Phosphoribosylpyrophosphate synthetase 1(PRPS1) codes for PRS-I enzyme that catalyzes the first step of nucleotide synthesis.PRPS1gene mutations have been implicated in a number of human diseases. Recently, new mutations inPRPS1have been identified that have been associated with novel phenotypes like diabetes insipidus expanding the spectrum ofPRPS1-related diseases. The purpose of this review is to evaluate current literature onPRPS1-related syndromes and summarize potential therapies. The overexpression ofPRPS1results in PRS-I superactivity resulting in purine overproduction. Patients with PRS-I superactivity demonstrate uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, and postlingual hearing impairment. On the other hand, decreased activity leads to X-linked nonsyndromic sensorineural deafness (DFNX-2), Charcot-Marie-Tooth disease-5 (CMTX5), and Arts syndrome depending on the residual activity of PRS-I. Mild PRS-I deficiency (DFNX-2) results in non-syndromic progressive hearing loss whereas moderate PRS-I deficiency (CMTX5) and severe PRS-I deficiency (Arts syndrome) present with peripheral or optic neuropathy, prelingual progressive sensorineural hearing loss, and central nervous system impairment. Currently, purine replacement via S-adenosylmethionine (SAM) supplementation in patients with Arts syndrome appears to improve their condition. This suggests that SAM supplementation can alleviate symptoms ofPRPS1deficient patients and open new avenues of therapeutic intervention.

Abstract This work was aimed at studying speech perception and auditory performance in the everyday lives of Finnish-speaking postlingually severely or profoundly hearing-impaired adults before and after receiving a multichannel cochlear implant. The association between the formal speech perception results and auditory performance in everyday life was also determined, and an effort was made to define how well a smaller sample represents the nationwide results. The patient series comprised a nationwide retrospective survey (N = 67), in which data on hearing level and word recognition were requested from the hospitals, and a prospective sample from the city of Oulu (N = 20), in whom hearing level, sentence, word and phoneme recognition and phoneme confusions were examined using standardised audiometric measures and formal speech perception tests in a study with a prospective repeated measure design. Categories of auditory performance in everyday life were assessed in both samples. The median sound field hearing level at frequencies of 0.5, 1, 2 and 4 kHz for the subjects in the nationwide survey one year after the switch-on of the implant was comparable to the level of mild hearing impairment. All the subjects achieved at least some open-set word recognition auditorily only (mean 71%, 95% CI 61-81%). The results in the Oulu sample were in line with the nationwide survey. A majority of the subjects (31/40) was able to understand conversation without speechreading one year after switch-on. Sentence recognition by the subjects in the Oulu sample improved most during the initial six months after the switch-on of the implant, whereas word and phoneme recognition improved steadily during the two-year follow-up period. Estimated average sentence recognition after two years was 89% (95% CI 71 to 106%), word recognition 73% (95% CI 58 to 87%), syllable recognition 53% (95% CI 42 to 63%), vowel recognition 80% (95% CI 68 to 92%) and consonant recognition 67% (95% CI 57 to 76%). Confusion of phonemes took place more in the direction a spectral energy distribution at higher frequencies. The association between auditory performance in everyday life and the formal speech perception tests was high (rs > 0.81, p < 0.0001). Systematic prospective assessment of speech perception with tests of differing difficulty is recommended for the follow-up of adult cochlear implant users
Tiivistelmä Tämän työn tarkoituksena oli tutkia suomenkielisten, kielen oppimisen jälkeen vaikean tai erittäin vaikean kuulovian saaneiden aikuisten kuulon tasoa, puheen vastaanottoa ja kuulon toiminnallista tasoa monikanavaisen sisäkorvaistutteen avulla. Tutkimuksessa selvitettiin myös, miten puheen vastaanottoa mittaavat testit kuvaavat selviytymistä arkipäivän elämässä sisäkorvaistutteen mahdollistaman kuulon avulla. Tarkoituksena oli myös määrittää, millä tavalla pieni otos edustaa kansallisia tuloksia. Tutkimuksessa on retrospektiivinen kansallinen otos (N=67) ja prospektiivinen Oulun otos (N=20). Kansallisessa otoksessa tiedot kuulon tasosta ja sanojen tunnistuskyvystä kerättiin yliopistosairaaloista koehenkilöiden sairauskertomuksista. Oulun otoksessa kuulon tasoa, sekä lauseiden, sanojen ja äänteiden tunnistuskykyä ja äänteiden sekoittuvuuksia tutkittiin audiometrian ja puheenvastaanottoa mittaavien testien avulla kahden vuoden seurannan aikana. Kuulon toiminnallista tasoa arvioitiin kuulon toiminnallisen tason luokituksella molemmissa otoksissa. Kansallisen otoksen koehenkilöiden kuulokynnysten mediaani äänikentässä sisäkorvaistutteella taajuuksilla 0,5, 1, 2 ja 4 kHz oli verrattavissa lievän kuulovian tasoon vuosi sisäkorvaistutteen käyttöönoton jälkeen. Kaikki koehenkilöt kykenivät tunnistamaan vähintään joitain sanoja pelkästään kuulonvaraisesti (keskiarvo 71 %, 95 %:n luottamusväli 61-81 %). Oulun otoksen ja kansallisen otoksen tulokset olivat yhteneväiset. Vuosi sisäkorvaistutteen käyttöönoton jälkeen suurin osa (31/40) koehenkilöistä pystyi keskustelemaan ilman huulioluvun tukea hiljaisessa ympäristössä. Oulun otoksen koehenkilöiden lauseiden tunnistuskyky parani eniten ensimmäisten kuuden kuukauden aikana. Sanojen ja äänteiden tunnistuskyky parani koko kahden vuoden seurannan ajan. Kaksi vuotta sisäkorvaistutteen käyttöönoton jälkeen, estimoitu keskimääräinen lauseiden tunnistusprosentti oli 89 % (95 %:n luottamusväli 71-106 %), sanojen tunnistusprosentti oli 73 % (95 %:n luottamusväli 58-87 %), tavujen tunnistusprosentti oli 53 % (95 %:n luottamusväli 42-63 %), vokaalien tunnistusprosentti oli 80 % (95 %:n luottamusväli 68-92 %) ja konsonanttien tunnistusprosentti oli 67 % (95 %:n luottamusväli 57-76 %). Koehenkilöt sekoittivat vokaaleja ja konsonantteja useimmiten spektraaliselta energialtaan läheisimpään suuremmille taajuuksille sijoittuvaan äänteeseen. Kuulon toiminnallisen tason luokituksen ja puheen vastaanottoa mittaavien testien välinen korrelaatio oli korkea (rs > 0.81, p < 0.0001). Sisäkorvaistutteen saavien aikuisten kuulon tason ja puheen vastaanottokyvyn systemaattinen seuranta vaikeudeltaan eritasoisten testien avulla on tärkeää monipuolisen kuntoutuksen suunnittelun tueksi