Audiology Research最新文献

{"title":"Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.","authors":"Paola Tesolin, Aurora Santin, Anna Morgan, Stefania Lenarduzzi, Elisa Rubinato, Giorgia Girotto, Beatrice Spedicati","doi":"10.3390/audiolres13060086","DOIUrl":"10.3390/audiolres13060086","url":null,"abstract":"<p><p>Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable severity. Although a high prevalence of behavioural and mental disorders in USH patients has been reported, few studies on these psychiatric and psychological issues have been conducted. This work describes the case of a 16-year-old boy affected by congenital bilateral sensorineural HL, presenting a suddenly altered behaviour concomitant with a decrease in visual acuity. To establish a molecular diagnosis, Whole-Exome Sequencing analysis was performed, detecting a pathogenetic homozygous variant (c. 5985C>A, p.(Tyr1995*)) within the <i>CDH23</i> gene. <i>CDH23</i> is a known USH type 1 causative gene, recently associated with schizophrenia-like symptoms and bipolar disorders. To date, no studies have provided evidence of a direct genotype-phenotype correlation between USH patients carrying <i>CDH23</i> variants and mental/behavioural issues; however, considering the multiple biological functions of <i>CDH23</i>, it can be hypothesised that it could have a pleiotropic effect. Overall, this study highlights the relevance of a continuous clinical evaluation of USH patients, to monitor not only the disease progression, but to early detect any psychological or behavioural alterations, thus allowing a rapid implementation of therapeutic strategies aimed at improving their quality of life and well-being.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"13 6","pages":"989-995"},"PeriodicalIF":1.7,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10740809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Cochlear Symptoms in Migraine Patients without Vestibular Migraine and/or Ménière’s Disease","authors":"V. Gambacorta, Giampietro Ricci, Alessandra D’Orazio, Davide Stivalini, Irene Baietta, V. E. Pettorossi, M. Faralli","doi":"10.3390/audiolres13060084","DOIUrl":"https://doi.org/10.3390/audiolres13060084","url":null,"abstract":"Migraine pathogenic pathways may selectively target the cochlea. A qualitative and quantitative analysis of cochlear symptoms in migraine patients without vestibular migraine and/or Méniere’s disease was conducted. We examined 60 consecutive patients with history of cochlear symptoms, including fullness, tinnitus, and hearing loss. Patients were divided into two groups based on migraine history: M (migraine) and nM (no migraine). The incidence of migraine was compared to a homogeneous control group with dysfunctional and inflammatory dysphonia without cochlear symptoms. The type, time of onset, recurrence, bilaterality of symptoms, and hearing threshold were analyzed. The incidence of migraine was significantly higher (p = 0.04) in patients with cochlear symptoms than in the control group. The onset of symptoms is significantly earlier (p < 0.05) in the presence of migraine. The fullness, recurrence, and bilaterality of symptoms are associated with migraine in a statistically significant way (p < 0.05). Pure tone audiometry shows a statistically significant increase in the hearing threshold (500–1000 Hz) in group M. Based on developing findings, cochlear migraine may be considered as a novel clinical entity, like vestibular migraine. It would be the expression, in the absence of vertiginous symptoms, of a selective suffering of the anterior labyrinth by known operating mechanisms of migraine.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"24 3","pages":""},"PeriodicalIF":1.7,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138595382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene Therapy for Inherited Hearing Loss: Updates and Remaining Challenges.","authors":"Roni Hahn, Karen B Avraham","doi":"10.3390/audiolres13060083","DOIUrl":"10.3390/audiolres13060083","url":null,"abstract":"<p><p>Hearing loss stands as the most prevalent sensory deficit among humans, posing a significant global health challenge. Projections indicate that by 2050, approximately 10% of the world's population will grapple with disabling hearing impairment. While approximately half of congenital hearing loss cases have a genetic etiology, traditional interventions such as hearing aids and cochlear implants do not completely restore normal hearing. The absence of biological treatment has prompted significant efforts in recent years, with a strong focus on gene therapy to address hereditary hearing loss. Although several studies have exhibited promising recovery from common forms of genetic deafness in mouse models, existing challenges must be overcome to make gene therapy applicable in the near future. Herein, we summarize the primary gene therapy strategies employed over past years, provide an overview of the recent achievements in preclinical studies for genetic hearing loss, and outline the current key obstacles to cochlear gene therapy.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"13 6","pages":"952-966"},"PeriodicalIF":1.7,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10740825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preceding Benign Paroxysmal Positional Vertigo as a Trigger for Persistent Postural-Perceptual Dizziness: Which Clinical Predictors?","authors":"Augusto Pietro Casani, Nicola Ducci, Francesco Lazzerini, Nicola Vernassa, Luca Bruschini","doi":"10.3390/audiolres13060082","DOIUrl":"10.3390/audiolres13060082","url":null,"abstract":"<p><strong>Objective: </strong>Persistent postural-perceptual dizziness (PPPD) is a syndrome described as secondary, when it is the consequence of an organic disorder (s-PPPD), or primary, when no somatic triggers can be identified. We evaluated a group of patients diagnosed as s-PPPD, with Benign Positional Paroxysmal Vertigo (BPPV) as the main somatic trigger, with the aim of identifying the predictive clinical elements of evolution towards PPPD.</p><p><strong>Study design: </strong>Retrospective case review.</p><p><strong>Setting: </strong>Tertiary referral center.</p><p><strong>Patients: </strong>We evaluated 126 patients diagnosed with PPPD; 54 patients were classified as p-PPPD (43%) and 72 as s-PPPD (57%). Of these, 51 patients had BPPV as a somatic trigger of PPPD, and in this group, we evaluated the prevalence of some clinical features (age, sex, latency between the onset of BPPV and the final diagnosis, recurrence of BPPV and the presence of migraine headache) for comparison with a group of patients who suffered from BPPV without an evolution towards PPPD (control group).</p><p><strong>Results: </strong>In the group with PPPD secondary to BPPV, we found a significantly higher mean age and a longer latency between the onset of BPPV and the final diagnosis compared to the control group. No difference between the two groups was found regarding sex, recurrence rate and the presence of migraine headache.</p><p><strong>Conclusions: </strong>The parameters most involved as potential precipitants of PPPD after BPPV were the age of the patients and a long latency between the onset of BPPV and the final diagnosis; the mean age of the subjects who developed PPPD following BPPV was significantly higher. These findings lead us to emphasize the importance of the early identification and treatment of BPPV, especially in older patients.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"13 6","pages":"942-951"},"PeriodicalIF":1.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10740490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Robert J. Gorlin: Personal Memory of a Friend and Mentor in Clinical Genetics.","authors":"Bruno Dallapiccola, Rita Mingarelli","doi":"10.3390/audiolres13060081","DOIUrl":"10.3390/audiolres13060081","url":null,"abstract":"<p><p>Robert J [...].</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"13 6","pages":"939-941"},"PeriodicalIF":1.7,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10741085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does Trauma-Informed Care Have a Place in Audiology? A Review and Practical Suggestions","authors":"Shade Avery Kirjava, Jennifer Phelan","doi":"10.3390/audiolres13060080","DOIUrl":"https://doi.org/10.3390/audiolres13060080","url":null,"abstract":"Background. Trauma from adverse childhood experiences (ACEs) and serious traumatic events in adulthood is a significantly prevalent concern for public-health-hearing healthcare professionals. The pediatric and geriatric populations that audiologists often work with have been shown to be at an increased risk of experiencing traumatic events. Childhood and adult trauma can significantly impact the hearing and vestibular testing and treatment of these patients. Methods. This narrative review article discusses trauma-informed care (TIC) strategies that audiologists can use to recognize and respond to trauma in patients and prevent retraumatizing patients during their encounters in audiology clinics. Conclusions. This article will provide an overview of TIC and direct the reader to resources for their continued learning. Practical guidance on implementing trauma-informed practices in clinical audiology are also provided.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"101 28","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135137713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cartilage Conduction Sounds in Cases of Wearing Different Transducers on a Head and Torso Simulator with a Manipulated Ear Pinna Simulator","authors":"Ryota Shimokura, Tadashi Nishimura, Hiroshi Hosoi","doi":"10.3390/audiolres13060078","DOIUrl":"https://doi.org/10.3390/audiolres13060078","url":null,"abstract":"Cartilage conduction is known widely as a third hearing transmission mechanism after the air and bone conduction methods, and transducers dedicated to the production of cartilage conduction sounds have been developed by several Japanese companies. To estimate the acoustic performance of the five cartilage conduction transducers selected for this study, both airborne sounds and cartilage conduction sounds were measured. Airborne sounds can be measured using a commercial condenser microphone; however, cartilage conduction sounds are impossible to measure using a conventional head and torso simulator (HATS), because the standard-issue ear pinna simulator cannot reproduce cartilage conduction sounds with the same spectral characteristics as the corresponding sounds measured in humans. Therefore, this study replaced the standard-issue simulator with a developed pinna simulator that can produce similar spectral characteristics to those of humans. The HATS manipulated in this manner realized results demonstrating that transducers that fitted the entrance to the external auditory canal more densely could produce greater cartilage conduction sounds. Among the five transducers under test, the ring-shaped device, which was not much larger than the entrance to the canal, satisfied the spectral requirements.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":" 35","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135241751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vestibular Testing—New Physiological Results for the Optimization of Clinical VEMP Stimuli","authors":"Christopher J. Pastras, Ian S. Curthoys","doi":"10.3390/audiolres13060079","DOIUrl":"https://doi.org/10.3390/audiolres13060079","url":null,"abstract":"Both auditory and vestibular primary afferent neurons can be activated by sound and vibration. This review relates the differences between them to the different receptor/synaptic mechanisms of the two systems, as shown by indicators of peripheral function—cochlear and vestibular compound action potentials (cCAPs and vCAPs)—to click stimulation as recorded in animal studies. Sound- and vibration-sensitive type 1 receptors at the striola of the utricular macula are enveloped by the unique calyx afferent ending, which has three modes of synaptic transmission. Glutamate is the transmitter for both cochlear and vestibular primary afferents; however, blocking glutamate transmission has very little effect on vCAPs but greatly reduces cCAPs. We suggest that the ultrafast non-quantal synaptic mechanism called resistive coupling is the cause of the short latency vestibular afferent responses and related results—failure of transmitter blockade, masking, and temporal precision. This “ultrafast” non-quantal transmission is effectively electrical coupling that is dependent on the membrane potentials of the calyx and the type 1 receptor. The major clinical implication is that decreasing stimulus rise time increases vCAP response, corresponding to the increased VEMP response in human subjects. Short rise times are optimal in human clinical VEMP testing, whereas long rise times are mandatory for audiometric threshold testing.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":" 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135241444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Otitis Media and Facial Paralysis in Children: A Systemic Review and Proposal of an Operative Algorithm","authors":"Piergabriele Fichera, Luca Bruschini, Stefano Berrettini, Silvia Capobianco, Giacomo Fiacchini","doi":"10.3390/audiolres13060077","DOIUrl":"https://doi.org/10.3390/audiolres13060077","url":null,"abstract":"Acute otitis media (AOM) is one of the most common ENT diseases in children. In the antibiotic/post-antibiotic era, facial paralysis is a very rare complication of AOM (0.004–0.005%). Despite the rarity of this complication, it should be known by all physicians for proper therapeutic management to avoid serious sequelae. The aim of this review is to provide a management guide based on the current literature. Materials and Methods: Fifteen studies published between 2000 and 2022 were selected, including 120 patients (62 M/58 F) with an average age of 4.96 years old (range = 4 months–16 years; SD: 4.2). The paralysis frequently has a sudden onset and is of a severe grade (medium House–Brackmann (HB) score at onset: 4.68; SD: 0.5); however, it tends to have an almost complete recovery in most patients (88.49% HB 1 at follow-up). Results: Its first-line treatment must be based on the use of antibiotics (beta-lactam antibiotics as penicillins or cephalosporins). Corticosteroids should be used concomitantly for their anti-inflammatory and neuroprotective actions; however, there is no unanimity between authors about their application. Myringotomy, with or without ventilation tube insertion, is indicated in cases where the tympanic membrane is intact. Other kinds of surgery should be performed only in patients who have a worsening of their AOM symptoms or a worsening in HB score even with clinical treatment. Conclusions: The obtained data show that a conservative treatment can be sufficient for complete recovery in most patients, and it is preferred as the first-line therapy. Mastoidectomy should be performed only in patients with acute mastoiditis and without symptom improvement after a conservative approach. There are insufficient data in the current literature to provide clear selection criteria for patients who need to undergo mastoidectomy with facial nerve decompression. The choice of this treatment is based on an individual center expertise. Further studies are needed to clarify the role of corticosteroids and the role of facial nerve decompression in this clinical scenario.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"2 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135392281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of Cartilage Conduction Hearing Aids in Pediatric Patients","authors":"Satomi Yakawa, Tomoko Sugiuchi, Rika Myojin, Kiyoko Sato, Takako Murakami, Yuki Miyoshi, Yuichiro Sugio","doi":"10.3390/audiolres13060076","DOIUrl":"https://doi.org/10.3390/audiolres13060076","url":null,"abstract":"Forty-nine children who started wearing cartilage conduction hearing aids (CC-HAs) before completing elementary school (17 with bilateral hearing loss and 32 with unilateral hearing loss) were followed-up and examined. The wearing and utilization status of the CC-HA and its progress to date were evaluated. In addition, 33 participants who purchased the CC-HAs were interviewed to assess the wearing effect. Eleven of seventeen children with bilateral hearing loss and 25 of 32 children with unilateral hearing loss continued to use the CC-HAs. In terms of wearing effect, a good wearing effect was reported, even by those with unilateral hearing loss. In cases where it was difficult to wear CC-HAs stably with pasting or ear tips, it was possible to fix them stably using commercially available hair bands and eyeglass vines. In two cases, the CC-HAs were worn from infancy. With ingenuity and appropriate educational and medical support, it is possible to wear CC-HAs from infancy.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135590007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}