A language-independent hearing screening self-test at school-entry.

The usage of a tablet-based language-independent self-test involving the recognition of ecological sounds in background noise, the Sound Ear Check, was investigated. The results of 692 children, aged between 5 and 9 years and 4 months, recruited in seven different countries, were used to analyze the validity and the cultural independence of test. Three different test procedures, namely a monaural adaptive procedure, a procedure presenting the sounds dichotically in diotic noise, and a procedure presenting all the sounds with a fixed signal-to-noise ratio and a stopping rule were studied. Results showed high sensitivity and specificity of all three procedures to detect conductive, sensorineural and mixed hearing loss > 30 dB HL. Additionally, the data collected from different countries were consistent, and there were no clinically relevant differences observed between countries. Therefore, the Sound Ear Check can offer an international hearing screening test for young children at school entry, solving the current lack of hearing screening services on a global scale.

Appropriate Vestibular Stimulation in Children and Adolescents-A Prerequisite for Normal Cognitive, Motor Development and Bodily Homeostasis-A Review.

The structural development of the vestibular part of the inner ear is completed by birth but its central connections continue to develop until adolescence. Their development is dependent on vestibular stimulation-vestibular experience. Studies have shown that vestibular function, modulated by experience and epigenetic factors, is not solely an instrument for body position regulation, navigation, and stabilization of the head and images but also influences cognition, emotion, the autonomous nervous system and hormones. To emphasize the importance of appropriate vestibular stimulation, we present a literature review of its effect on bodily homeostasis, cognition and emotion.

Language-Independent Hearing Screening - Increasing the Feasibility of a Hearing Screening Self-Test at School-Entry.

A tablet-based language-independent self-test involving the recognition of ecological sounds in background noise, the Sound Ear Check (SEC), was adapted to make it feasible for young children. Two experiments were conducted. The first experiment investigated the SEC's feasibility, as well as its sensitivity and specificity for detecting childhood hearing loss with a monaural adaptive test procedure. In the second experiment, the SEC sounds, noise, and test format were adapted based on the findings of the first experiment. The adaptations were combined with three test procedures, one similar to the one used in Experiment 1, one presenting the sounds dichotically in diotic noise, and one presenting all the sounds with a fixed signal-to-noise ratio and a stopping rule. Results in young children show high sensitivity and specificity to detect different grades of conductive and sensorineural hearing loss (70-90%). When using an adaptive, monaural procedure, the test duration was approximately 6 min, and 17% of the results obtained were unreliable. Adaptive staircase analyses showed that the unreliable results probably occur due to attention/motivation loss. The test duration could be reduced to 3-4 min with adapted test formats without decreasing the test-retest reliability. The unreliable test results could be reduced from 17% to as low as 5%. However, dichotic presentation requires longer training, reducing the dichotic test format's feasibility.

Vector-Borne Tularemia: A Re-Emerging Cause of Cervical Lymphadenopathy.

Tularemia is a zoonosis caused by the highly invasive bacterium Francisella tularensis. It is transmitted to humans by direct contact with infected animals or by vectors, such as ticks, mosquitos, and flies. Even though it is well-known as a tick-borne disease, it is usually not immediately recognised after a tick bite. In Slovenia, tularemia is rare, with 1-3 cases reported annually; however, the incidence seems to be increasing. Ulceroglandular tularemia is one of its most common forms, with cervical colliquative lymphadenopathy as a frequent manifestation. The diagnosis of tularemia largely relies on epidemiological information, clinical examination, imaging, and molecular studies. Physicians should consider this disease a differential diagnosis for a neck mass, especially after a tick bite, as its management significantly differs from that of other causes. Tularemia-associated lymphadenitis is treated with antibiotics and surgical drainage of the colliquated lymph nodes. Additionally, tularemia should be noted for its potential use in bioterrorism on behalf of the causative agents' low infectious dose, possible aerosol formation, no effective vaccine at disposal, and the ability to produce severe disease. This article reviews the recent literature on tularemia and presents a case of an adult male with tick-borne cervical ulceroglandular tularemia.

Indicators of pediatric peripheral vestibular disorder: A retrospective study in a tertiary referral center.

OBJECTIVES: This study aims to present characteristics of pediatric patients with peripheral vertigo and dizziness and their clinical workup results in the tertiary otorhinolaryngology center. We wanted to investigate whether the detailed history could replace the extensive vestibular testing and whether the clinical presentation could guide the first contact physician to appropriately directed specialist referral. METHODS: Retrospective case review of consecutive pediatric vertigo and dizziness patients referred to the tertiary otorhinolaryngology center from 2015 to 2020. The data about the signs and symptoms of vertigo and dizziness and the results of audiological and vestibular tests were collected. RESULTS: Of 257 children aged 10.9±4.3 years (R: 1-17 years), 32 (12.5%) had peripheral, and 49 (19%) had central vertigo and dizziness. Acute vestibulopathy was diagnosed in 22/257 (8.5%) children, sudden sensorineural hearing loss and benign paroxysmal positional vertigo in 5/257 (2%) children each. 60% of children with peripheral vertigo and dizziness had emesis, and 55.6% had nausea. 8% of children had spontaneous horizontal-rotatory nystagmus that followed Alexander's law. Goodman and Kruskal's л for determining whether the type of nystagmus could predict the type of vertigo and dizziness (central or peripheral) was 0.481 (p = 0.001). 12/26 (60%) of children with peripheral vertigo and dizziness had emesis compared to 14 (30.04%) children without emesis, a difference in proportions of 0.296 (p = 0.024, chi-square test of homogeneity). Binomial logistic regression to ascertain the effects of duration, nausea and emesis on the likelihood of the presence of peripheral vertigo was statistically significant (χ2(3) = 10.626, p = 0.014). CONCLUSION: Unlike adults, peripheral vestibular causes of vertigo and dizziness in children may be rare but have the same typical signs and symptoms. The detailed history and careful clinical examination are crucial in differentiating between peripheral and central causes. This guides the first contact physician for further referral to appropriate specialists included in a multidisciplinary workup. Namely, nausea, emesis, horizontal nystagmus and a longer duration of symptoms in a child with vertigo and dizziness indicate a peripheral etiology. Therefore, a referral to an otorhinolaryngologist is reasonable.

Unraveling the Etiology of Pediatric Vertigo and Dizziness: A Tertiary Pediatric Center Experience.

Background and Objectives: Numerous authors have reported that the commonest type of vertigo in children is migraine-associated vertigo (vestibular migraine and benign paroxysmal vertigo of childhood-BPV). We aimed to provide the possible etiological background of vertigo and dizziness in Slovenian children. Materials and Methods: A retrospective case series of pediatric vertigo and dizziness children referred to the tertiary pediatric otorhinolaryngology center from 2015 to 2020. Children received a complete audiological and vestibular workup and were referred to pediatric specialists depending on the clinical presentation. Results: Of 257 children (42% male, 58% female) aged 1-17 years (M = 10.9, SD = 4.3 years) in 19.1% vertigo and dizziness were classified as central, in 12.4% as a peripheral vestibular, in 10.9% as a hemodynamic, in 5.8% as a psychological and none as visual by pediatric neurologists, otorhinolaryngologists, cardiologists, psychologists or ophthalmologists, respectively. 40.8% (20) children with central vertigo had BPV (7.8% of all children) and 8.2% (4) migrainous vertigo. In 43.6% (112 children), the etiology remained unclassified. Conclusions: After a thorough multidisciplinary workup, the etiology of vertigo and dizziness was unraveled in the majority of children referred to our tertiary otorhinolaryngology center. The most common cause was central; however, in a considerable number, the etiology remained unclassified. The latter could be attributed to the self-limiting nature of vertigo spells. Hence, a child presenting with dizziness and vertigo requires a multidisciplinary approach, in which referral to a neurologist is, in most cases, essential.

Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature.

In contrast to the recessive form, hearing loss inherited in a dominant manner is more often post-lingual and typically results in a progressive sensorineural hearing loss with variable severity and late onset. Variants in the GRHL2 gene are an extremely rare cause of dominantly inherited hearing loss. Genetic testing is a crucial part of the identification of the etiology of hearing loss in individual patients, especially when performed with next-generation sequencing, enabling simultaneous analysis of numerous genes, including those rarely associated with hearing loss. We aimed to evaluate the genetic etiology of hearing loss in a family with moderate late-onset hearing loss using next-generation sequencing and to conduct a review of reported variants in the GRHL2 gene. We identified a novel disease-causing variant in the GRHL2 gene (NM_024915: c.1510C>T; p.Arg504Ter) in both affected members of the family. They both presented with moderate late-onset hearing loss with no additional clinical characteristics. Reviewing known GRHL2 variants associated with hearing loss, we can conclude that they are more likely to be truncating variants, while the associated onset of hearing loss is variable.

The Importance of Early Genetic Diagnostics of Hearing Loss in Children.

Hearing loss is one of the most common sensory deficits. It carries severe medical and social consequences, and therefore, universal newborn hearing screening was introduced at the beginning of this century. Affected patients can have hearing loss as a solitary deficit (non-syndromic hearing loss) or have other organs affected as well (syndromic hearing loss). In around 60% of cases, congenital hearing loss has a genetic etiology, where disease-causing variants can change any component of the hearing pathway. Genetic testing is usually performed by sequencing. Sanger sequencing enables analysis of the limited number of genes strictly preselected according to the clinical presentation and the prevalence among the hearing loss patients. In contrast, next-generation sequencing allows broad analysis of the numerous genes related to hearing loss, exome, or the whole genome. Identification of the genetic etiology is possible, and it makes the foundation for the genetic counselling in the family. Furthermore, it enables the identification of the comorbidities that may need a referral for specialty care, allows early treatment, helps with identification of candidates for cochlear implant, appropriate aversive/protective management, and is the foundation for the development of novel therapeutic options.

Slovenian Cross-Cultural Adaptation and Validation of Health-Related Quality of Life Measures for Chronic Otitis Media (COMQ-12), Vertigo (DHI, NVI) and TINNITUS (THI).

PURPOSE: To provide physicians and patients with the tools needed to evaluate patients' problems and health-related quality of life by cross-culturally adapting and validating the Chronic Otitis Media Questionnaire 12 (COMQ-12), the Dizziness Handicap Inventory (DHI), the Neuropsychological Vertigo Inventory (NVI) and the Tinnitus Handicap Inventory (THI). MATERIALS AND METHODS: COMQ-12, DHI, NVI and THI were translated into the Slovenian language and completed by patients treated at our department for chronic otitis media, vertigo or tinnitus. The control group for each questionnaire consisted of healthy volunteers. Internal consistency, test-retest reliability, discriminant validity, diagnostic accuracy and cut-off value were determined for each questionnaire. RESULTS: Test-retest reliability was excellent for DHI (ICC A=0.946) and NVI (p=0.315, ICC A=0.975), good to excellent for COMQ-12 (p=0.680, ICC A=0.858) and satisfactory for THI (p=0.120). Discriminant validity was confirmed for each questionnaire (p>0.05) using the Mann-Whitney U test (COMQ-12, DHI, THI) or the Welch t-test (NVI). COMQ-12 had acceptable (α=0.796) and DHI (α=0.910), NVI (α=0.950) and THI (α=0.924) perfect internal consistency. COMQ-12 and DHI had excellent, NVI acceptable and THI perfect diagnostic accuracy (AUC=0.987, AUC=0.999, AUC=0.781 and AUC=1.000 respectively). Cut-off values determined by Youden's index were 7, 7, 9 and 56 for COMQ-12, THI, DHI and NVI, respectively. CONCLUSION: Slovenian COMQ-12, DHI, NVI and THI are a valid and accurate tool for the diagnosis and measurement of health-related quality of life in patients with chronic otitis media, vertigo and tinnitus. They could aid general practitioners, occupational health specialists, neurologists and otorhinolaryngologists.

Cross-cultural adaptation and validation of nasal obstruction symptom evaluation questionnaire in Slovenian language.

OBJECTIVES: Nasal obstruction is highly subjective perception with numerous efforts being made towards objective measuring. Many instruments in quality of life studies encompass subjective symptom of nasal obstruction, but only NOSE has been properly validated and is easy to use in every day practice. METHODS: Multicenter prospective instrument validation and cross-cultural adaptation cohort study was conducted on patients with deviated nasal septum, with or without inferior turbinate hypertrophy, to develop the Slovenian version of NOSE questionnaire. A cross-cultural adaptation of the original questionnaire was done in five steps, producing Slovenian NOSE-si, used on a pilot group to confirm the quality of adapted tools and, afterwards, on the main study and control group. Symptoms were lasting for more than 12 months and all had an indication for septal surgery. A control group was selected from a pool of healthy subjects, self-assessed as having no rhinological complaints. RESULTS: NOSE-si was used on 116 patients (58 from the study group vs. 58 from the control group). High degree of internal consistency - Cronbach's a 0.971 and reliability after retesting - Goodman-Kruskal gamma coefficient 0.984 was proven. Responsiveness was confirmed in the surgery subgroup with standardized response mean (SRM) 2.76 (p<0.001). CONCLUSIONS: The study produced a valid Slovenian version of NOSE questionnaire through rigorous and well defined five-phase effort to maintain scientifically comparable QoL instrument, and may be used by clinicians and researchers.