Etiological profile of hearing loss amongst Lithuanian pediatric cochlear implant users.

INTRODUCTION: Congenital sensorineural hearing loss is a heterogeneous disorder; its etiological profile varies between populations. Pathogenic variants of GJB2 gene are the major cause of non-syndromic hearing loss. Congenital cytomegalovirus infection (cCMV) is the most important prenatal etiological factor causing hearing loss and other disorders. Perinatal events, syndromes, postnatal infections or traumas are less common. Causes of the remaining one third of hearing loss cases are unknown. OBJECTIVES: To determine the etiological profile of hearing loss in pediatric cochlear implant users in Lithuanian population. METHODS: The data of 122 children (70 male/52 female; aged 7.6 ± 3.3 years) cochlear implant users were analysed. Medical records of all children recruited in Santaros Clinics (Vilnius, Lithuania) were analysed to identify prenatal, perinatal, or postnatal risk factors based on the adapted list proposed by the Joint Committee of Infant Hearing. Genetic counselling and testing according to the scheme were performed to 101 children. DNA of 117 children was extracted from the DBS on Guthrie cards and CMV DNA detected using real time PCR. RESULTS: Non-syndromic hearing loss was diagnosed in 65 cases (53.3%), 58 of which were GJB2 gene-associated; syndromic hearing loss was diagnosed to 8 children (6.6%). Perinatal (prematurity, low birth weight, hypoxia, hyperbilirubinemia, sepsis, ototoxicity, and meningitis) and postnatal (meningitis) risk factors were associated with hearing loss in 16 (13.1%) and 4 (3.3%) study participants respectively. CMV DNA was detected in 12 samples (9.8%). The cause of hearing loss remained unknown only for 17 (13.9%) children. CONCLUSIONS: The major cause of HL in the current study was GJB2 gene alterations. Only 14% of the cohort had congenital hearing loss of unknown origin.

The Importance of the Temporal Bone 3T MR Imaging in the Diagnosis of Menière's Disease.

BACKGROUND: The aim of this study was to evaluate endolymphatic hydrops using the 3T temporal bone magnetic resonance imaging (MRI), performed according to the chosen protocol, and determine whether it could be applied as an objective diagnostic tool for Menière's disease. METHODS: 105 participants diagnosed with probable (n = 50) and definite (n = 55) Menière's disease were included in this prospective study at Vilnius University Hospital, Santaros Clinics. Audiometry, vestibular function tests, videonystagmography, and computer posturography were performed before MRI. The 3T MRI with gadolinium contrast was performed to evaluate the endolymphatic hydrops. Imaging protocol consisted of 3D-FLAIR and 3D T2DRIVE sequences. Vestibular endolymphatic sac was interpreted as enlarged if occupied more than 50% of the vestibular area. RESULTS: 78.1% of subjects had abnormal MRI findings other than hydrops, and it was more than 90% (50/55) of patients in the definite MD group (p < 0.001). Changes in caloric test were observed in 63.8% of subjects in general, and in 76.4% of patients with a definite Menière's disease. The side of the endolymphatic hydrops observed on MR imaging corresponded to the clinical diagnosis of the Menière's disease based on the results of audiometry (p < 0.001) and unilateral weakness (p < 0.001). Endolymphatic hydrops on MRI and directional preponderance in caloric test were two independent predictors of the definite Menière's disease. CONCLUSIONS: Temporal bone 3T MRI with gadolinium contrast is clinically superior to confirm the diagnosis of Menière's disease. Grade II endolymphatic hydrops on MRI, directional preponderance, and unilateral weakness on caloric test were independent predictors for the definite Menière's disease.

Evaluation of quality of life after paediatric cochlear implantation.

BACKGROUND: Cochlear implantation (CI) is the main treatment method for deaf children. CI influences not only communication, but also psychosocial outcomes in children with severe to profound hearing loss. Focusing on issues specific to CI (e.g., self-reliance, social relations, education) may provide a more accurate and relative view of functional status of paediatric cochlear implant users. The objectives of this study were to translate into Lithuanian and adapt an international questionnaire of the quality of life after cochlear implantation and to evaluate parental perspectives regarding CI and the child's progress after a minimum of two years after surgery. MATERIALS AND METHODS: The parental questionnaire The Children with Cochlear Implants: Parental Perspectives CCIPP was used to evaluate the quality of life following cochlear implantation. The questionnaire includes 74 items covering two main domains: decision-making (26 items) and the outcomes of implantation (48 items). Quality of life is estimated according to the scores of eight sub-domains: communication, general functioning, well-being, self-reliance, social relations, education, effects of implantation, and supporting the child. RESULTS: The paediatric sample consisted of 11 (39%) girls and 17 (61%) boys, whose mean age at the time of cochlear implantation was 2.41 ± 2.25 years, mean duration of the implant use 3.7 ± 1.3 years. All the grand means in the outcomes of implantation domain exceeded 3 on the 5-point scale, meaning that parents viewed the quality of life of their children as either average or better. Parents rated the sub-domains of communication (3.90 ± 0.77 points), social relations (4.05 ± 0.41), and supporting the child (3.89 ± 0.49) most positively. CONCLUSIONS: According to parents, the quality of life improves after the cochlear implantation, especially in the fields of communication, social relations and supporting the child.

Dysphonia - the single symptom of rifampicin resistant laryngeal tuberculosis.

Tuberculosis is still the most frequent granulomatous laryngeal disease. Absence of pathognomonic symptoms and change in clinical pattern frequently leads to misdiagnosis and delayed treatment. Hoarseness is the commonest symptom of laryngeal tuberculosis and constitutional symptoms are usually rare. However dysphonia can be caused by many other more common conditions. Hoarseness can be a symptom of organic (nodules and polyps of vocal folds, tumors, vocal fold paresis) or functional (functional dysphonia, laryngeal conversion disorder, paradoxical vocal folds motion) conditions. Rarely systemic diseases as amyloidosis, sarcoidosis, Wegener's granulomatosis or tuberculosis can cause vocal dysfunction too. That is why laryngeal tuberculosis is often forgotten in case of persistent hoarseness. In this article, we present a case of a young previously healthy woman, complaining of persistent hoarseness with no other leading symptoms. Though endoscopic image suggested a malignancy, histology showed granulomatous lesion. Detailed examination revealed laryngeal and pulmonary tuberculosis resistant to rifampicin. CONCLUSION: Dysphonia can be the only one symptom of laryngeal tuberculosis. The disease should be taken into consideration when a patient complains of persistent hoarseness in order to avoid delays in treatment and spread of infection.