Translation, Cross-Cultural Adaptation, and Validation of the Polish Version of the Dizziness Handicap Inventory.

OBJECTIVES: The Dizziness Handicap Inventory (DHI) questionnaire is used to assess the severity of vertigo. In clinical practice, it is a good indicator for understanding the patient's feelings and can be used as a quantitative measure for monitoring ongoing treatment and rehabilitation. This study involved the translation, cultural adaptation, and validation of the Polish DHI questionnaire (DHI-POL). METHODS: We recruited 127 subjects (mean age 55.1 years) who experienced vertigo, dizziness, and imbalance resulting from a disturbance to their vestibular system that had lasted longer than 1 month and 56 subjects (mean age 51.8 years) without any vestibular symptoms. All subjects performed a posturography Sensory Organization Test and completed the questionnaire twice. RESULTS: Cronbach's alpha for the overall DHI-POL was α = 0.93. The questions were divided into 3 subgroups (functional [F], emotional [E], and physical [P]) for which the internal consistency was as follows: DHI-F, α = 0.84; DHI-E, α = 0.85; and DHI-P, α = 0.81. Reproducibility, as measured by interclass correlation coefficient for the overall DHI-POL, was 0.91. For each interclass correlation coefficient subgroup, the results were as follows: DHI-F, 0.90; DHI-E, 0.93; and DHI-P, 0.83. CONCLUSIONS: DHI-POL has a high consistency and repeatability; therefore, it is a fully functional questionnaire that meets all the validation criteria and is a tool ready for use on Polish patients with vertigo.

Vestibular status in partial deafness / Condição vestibular na surdez parcial

Abstract Introduction The hair cells of the cochlea and the vestibulum are closely connected and may be susceptible to the same noxious factors. The relationship between their function has been a continuing field of investigation. The indications for cochlear implantation have been broadened and now include the patients with partial deafness. This raises the question of their vestibular status. Objective The aim of the study was to investigate whether there is any difference between the vestibular function of patients with low frequency residual hearing and those with totally deaf ears. Methods A total of 360 ears with profound sensorineural hearing loss were analysed before cochlear implantation. The patients were divided into four groups, according to their low frequency residual hearing (Group 1 ‒ normal or slightly elevated low frequency residual hearing; Group 2 ‒ elevated threshold but still usable hearing at low frequencies; Group 3 - non-functional residual hearing; Group 4 ‒ no detectable hearing threshold within the limits of the audiometer). The patients underwent vestibular tests: cervical vestibular evoked myogenic potential, ocular vestibular evoked myogenic potential, caloric test and video-head impulse test. Results The rates of elicited responses in cervical vestibular evoked myogenic potential were as follows: in Group 1 (59.3 %); Group 2 (57.5 %); Group 3 (35.2 %); Group 4 (7.7 %). For ocular vestibular evoked myogenic potential the percentage of correct outcomes was: Group 1 (70.8 %); Group 2 (56.0 %); Group 3 (40.0 %); Group 4 (14.3 %). For the caloric test we counted normal responses in 88.9 % of Group 1; 81.6 % of Group 2; 57.9 % of Group 3; 53.3 % of Group 4. For video-head impulse test we also found markedly better results in Group1, followed by Group 2, and much worse in Group 3 and 4. Conclusion Patients with partial deafness not only have a better cochlea but also better vestibular function, which needs to be protected. In summary, the better the low frequency residual hearing, the better the vestibular status.

Resumo Introdução As células ciliadas da cóclea e do vestíbulo estão intimamente ligadas e podem ser suscetíveis aos mesmos fatores nocivos. A relação entre suas funções tem sido um campo de investigação há muito tempo. As indicações para implante coclear foram ampliadas e agora incluem os pacientes com surdez parcial. Isso levanta a questão de sua condição vestibular. Objetivo Investigar se existe alguma diferença entre a função vestibular de pacientes com audição residual de baixa frequência e aqueles com surdez total. Método Foram analisadas antes do implante coclear 360 orelhas com perda auditiva neurossensorial profunda. Os pacientes foram divididos em quatro grupos, de acordo com a audição residual de baixa frequência (Grupo 1 - audição residual de baixa frequência normal ou levemente elevada; Grupo 2 - limiar auditivo elevado, mas ainda usável em baixas frequências; Grupo 3 - audição residual não funcional; Grupo 4 - sem limiar auditivo detectável dentro dos limites do audiômetro). Os pacientes foram submetidos a testes vestibulares: potencial evocado miogênico vestibular cervical, potencial evocado miogênico vestibular ocular, prova calórica e teste do impulso cefálico com vídeo. Resultados As taxas de respostas obtidas no potencial evocado miogênico vestibular cervical foram as seguintes: no Grupo 1 (59,3%); Grupo 2 (57,5%); Grupo 3 (35,2%); Grupo 4 (7,7%). Para o potencial evocado miogênico vestibular ocular, o percentual de resultados corretos foi: Grupo 1 (70,8%); Grupo 2 (56,0%); Grupo 3 (40,0%); Grupo 4 (14,3%). Para a prova calórica, contamos respostas normais em 88,9% do Grupo 1; 81,6% do grupo 2; 57,9% do Grupo 3; 53,3% do Grupo 4. Para o teste do impulso cefálico com vídeo, também encontramos resultados significativamente melhores no Grupo 1, seguidos pelo Grupo 2, e muito piores nos Grupos 3 e 4. Conclusão Pacientes com surdez parcial não só apresentam uma função coclear melhor, mas também melhor função vestibular, que precisa ser protegida. Em resumo, quanto melhor for a audição residual de baixa frequência, melhor a condição vestibular.

Vestibular Function After Cochlear Implantation in Partial Deafness Treatment.

Introduction: Cochlear implantation is a fully accepted method of treating individuals with profound hearing loss. Since the indications for cochlear implantation have broadened and include patients with low-frequency residual hearing, single-sided deafness, or an already implanted ear (meaning bilateral cochlear implantation), the emphasis now needs to be on vestibular protection. Materials and Methods: The research group was made up of 107 patients operated on in the otorhinolaryngosurgery department: 59 females and 48 males, aged 10.4-80.2 years (M = 44.4; SD = 18.4) with hearing loss lasting from 1.4 to 56 years (M = 22.7; SD = 13.5). The patients underwent cVEMP, oVEMP, a caloric test, and vHIT assessment preoperatively, and, postoperatively, cVEMP and oVEMP at 1-3 months and a caloric test and vHIT at 4-6 months. Results: After cochlear implantation, there was postoperative loss of cVEMP in 19.2% of the patients, oVEMP in 17.4%, reduction of caloric response in 11.6%, and postoperative destruction of the lateral, anterior, and posterior semicircular canal as measured with vHIT in 7.1, 3.9, and 4% respectively. Conclusions: Hearing preservation techniques in cochlear implantation are connected with vestibular protection, but the risk of vestibular damage in never totally eliminated. The vestibular preservation is associated with hearing preservation and the relation is statistically significant. Informed consent for cochlear implantation must include information about possible vestibular damage. Since the risk of vestibular damage is appreciable, preoperative otoneurological diagnostics need to be conducted in the following situations: qualification for a second implant, after otosurgery (especially if the opposite ear is to be implanted), having a history of vestibular complaints, and when there are no strict audiological or anatomical indications on which side to operate.

TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.

Several TBC1D24 variants are causally involved in the development of profound, prelingual hearing loss (HL) and different epilepsy syndromes inherited in an autosomal recessive manner. Only two TBC1D24 pathogenic variants have been linked with postlingual progressive autosomal dominant HL (ADHL). To determine the role of TBC1D24 in the development of ADHL and to characterize the TBC1D24-related ADHL, clinical exome sequencing or targeted multigene (n = 237) panel were performed for probands (n = 102) from multigenerational ADHL families. In four families, TBC1D24-related HL was found based on the identification of three novel, likely pathogenic (c.553G>A, p.Asp185Asn; c.1460A>T, p. His487Leu or c.1461C>G, p.His487Gln) and one known (c.533C>T, p.Ser178Leu) TBC1D24 variant. Functional consequences of these variants were characterized by analyzing the proposed homology models of the human TBC1D24 protein. Variants not only in the TBC (p.Ser178Leu, p.Asp185Asn) but also in the TLDc domain (p.His487Gln, p.His487Leu) are involved in ADHL development, the latter two mutations probably affecting interactions between the domains. Clinically, progressive HL involving mainly mid and high frequencies was observed in the patients (n = 29). The progression of HL was calculated by constructing age-related typical audiograms. TBC1D24-related ADHL originates from the cochlear component of the auditory system, becomes apparent usually in the second decade of life and accounts for approximately 4% of ADHL cases. Given the high genetic heterogeneity of ADHL, TBC1D24 emerges as an important contributor to this type of HL.

Vestibular status in partial deafness.

INTRODUCTION: The hair cells of the cochlea and the vestibulum are closely connected and may be susceptible to the same noxious factors. The relationship between their function has been a continuing field of investigation. The indications for cochlear implantation have been broadened and now include the patients with partial deafness. This raises the question of their vestibular status. OBJECTIVE: The aim of the study was to investigate whether there is any difference between the vestibular function of patients with low frequency residual hearing and those with totally deaf ears. METHODS: A total of 360 ears with profound sensorineural hearing loss were analysed before cochlear implantation. The patients were divided into four groups, according to their low frequency residual hearing (Group 1 ‒ normal or slightly elevated low frequency residual hearing; Group 2 ‒ elevated threshold but still usable hearing at low frequencies; Group 3 - non-functional residual hearing; Group 4 ‒ no detectable hearing threshold within the limits of the audiometer). The patients underwent vestibular tests: cervical vestibular evoked myogenic potential, ocular vestibular evoked myogenic potential, caloric test and video-head impulse test. RESULTS: The rates of elicited responses in cervical vestibular evoked myogenic potential were as follows: in Group 1 (59.3 %); Group 2 (57.5 %); Group 3 (35.2 %); Group 4 (7.7 %). For ocular vestibular evoked myogenic potential the percentage of correct outcomes was: Group 1 (70.8 %); Group 2 (56.0 %); Group 3 (40.0 %); Group 4 (14.3 %). For the caloric test we counted normal responses in 88.9 % of Group 1; 81.6 % of Group 2; 57.9 % of Group 3; 53.3 % of Group 4. For video-head impulse test we also found markedly better results in Group1, followed by Group 2, and much worse in Group 3 and 4. CONCLUSION: Patients with partial deafness not only have a better cochlea but also better vestibular function, which needs to be protected. In summary, the better the low frequency residual hearing, the better the vestibular status.

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.

BACKGROUND: Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal dominant non-syndromic hearing loss (ADNSHL) in a German family. The study presented the only, so far known, PTPRQ pathogenic variant (c.6881G>A) in ADNSHL. It is located in the last PTPRQ coding exon and introduces a premature stop codon (p.Trp2294*). METHODS: A five-generation Polish family with ADNSHL was recruited for the study (n = 14). Thorough audiological, neurotological and imaging studies were carried out to precisely define the phenotype. Genomic DNA was isolated from peripheral blood samples or buccal swabs of available family members. Clinical exome sequencing was conducted for the proband. Family segregation analysis of the identified variants was performed using Sanger sequencing. Single nucleotide polymorphism array on DNA samples from the Polish and the original German family was used for genome-wide linkage analysis. RESULTS: Combining clinical exome sequencing and family segregation analysis, we have identified the same (NM_001145026.2:c.6881G>A, NP_001138498.1:p.Trp2294*) PTPRQ alteration in the Polish ADNSHL family. Using genome-wide linkage analysis, we found that the studied family and the original German family derive from a common ancestor. Deep phenotyping of the affected individuals showed that in contrast to the recessive form, the PTPRQ-related ADNSHL is not associated with vestibular dysfunction. In both families ADNSHL was progressive, affected mainly high frequencies and had a variable age of onset. CONCLUSION: Our data provide the first confirmation of PTPRQ involvement in ADNSHL. The finding strongly reinforces the inclusion of PTPRQ to the small set of genes leading to both autosomal recessive and dominant hearing loss.

Does cochlear implantation influence postural stability in patients with hearing loss?

BACKGROUND: Cochlear implantation (CI) procedure carries the potential risk for vestibular system insult or stimulation with resultant dysfunction due to its proximity to the cochlea. The vestibular system plays an essential role in crucial tasks such as postural control, gaze stabilization and spatial orientation. RESEARCH QUESTION: How does standard cochlear implantation influence postural stability in patients with hearing loss? METHODS: The study included 21 individuals (age 51 ± 18 years) qualified to undergo CI due to severe or profound hearing loss. Participants were qualified for both groups by a physician based on an interview, an otoneurological examination and vestibular tests. The first group included patients without vestibular dysfunction, whereas the other group consisted of persons with vestibular dysfunction. The research methodology included medical examinations, anthropometric measurements and stabilometry on the Biodex Balance System SD (BBS) platform. The examinations were carried out twice, i.e. prior to and 3 months post implantation. The recorded data was compared between the first and the second examination using a non-parametric Wilcoxon test. The analysis of variance (ANOVA) and Tukey's post-hoc HSD unequal sample sizes were performed for patients with and without vestibular dysfunction. RESULTS AND SIGNIFICANCE: Study showed that 52.4% of the participants obtained results within the norm, while 47.6% scored below it. The comparison of stability indices of the examined individuals, with and without vestibular dysfunction, did not reveal statistically significant differences. The only difference was the anterior-posterior stability index assessed in static conditions. Three months after the implantation, no changes in the majority of indices were noted, with the exception of anterior-posterior stability index, which improved following the implantation. CI does not affect postural stability changes in the study participants.

Effect on vestibular function of cochlear implantation by partial deafness treatment-electro acoustic stimulation (PDT-EAS).

PURPOSE: Although the cochlear implantation procedure does not interfere with vestibular structures directly, both the vestibulum and the cochlea share the same inner ear fluid space, and this fluid may be responsible for transferring possibly damaging forces from one to the other. The purpose of the study is to assess postoperative vestibular function after partial deafness treatment-electro-acoustic stimulation (PDT-EAS) cochlear implantation. METHODS: Fifty-five patients were included in the study (30 females, 25 males, age 11-80, mean 41.8 ± 19.35). cVEMP and oVEMP were performed preoperatively and 1-3 months after cochlear implantation. Caloric and vHIT tests were conducted preoperatively and 4-6 months after cochlear implantation. RESULTS: Our study shows that, based on a wide range of electrodes, use of PDT-EAS is protective in terms of preserving vestibular function. It gives a rate of saccular damage of 15.79%, utricular damage of 19.04%, and a horizontal semicircular canal response reduction of 15.79%. CONCLUSIONS: PDT-EAS is protective in terms of preserving vestibular function. Nevertheless, it should be emphasized that the risk of vestibular damage cannot be totally eliminated even when hearing preservation techniques are adopted.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

BACKGROUND: Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. Mutations in one of five different genes HSD17B4, HARS2, LARS2, CLPP or TWNK (previous symbol C10orf2) cause the autosomal recessive disorder but they are found only in about half of the patients. METHODS: We report on two siblings with a clinical picture resembling a severe, neurological type of PRLTS. For an exhaustive characterisation of the phenotype neuroimaging with volumetric measurements and objective measures of cochlear hair cell and auditory nerve function (otoacustic emissions and auditory brainstem responses) were used. Whole exome sequencing was applied to identify the genetic cause of the disorder. Co-segregation of the detected mutations with the phenotype was confirmed by Sanger sequencing. In silico analysis including 3D protein structure modelling was used to predict the deleterious effects of the detected variants on protein function. RESULTS: We found two rare biallelic mutations in TWNK, encoding Twinkle, an essential mitochondrial helicase. Mutation c.1196A>G (p.Asn399Ser) recurred for the first time in a patient with PRLTS and the second mutation c.1802G>A (p.Arg601Gln) was novel for the disorder. In both patients neuroimaging studies showed diminished cervical enlargement of the spinal cord and for the first time in PRLTS partial atrophy of the vestibulocochlear nerves and decreased grey and increased white matter volumes of the cerebellum. Morphological changes in the auditory nerves, their desynchronized activity and partial cochlear dysfunction underlay the complex mechanism of hearing impairment in the patients. CONCLUSIONS: Our study unveils novel features on the phenotypic landscape of PRLTS and provides further evidence that the newly identified for PRLTS TWNK gene is involved in its pathogenesis.