Search results for "Hearing lo"
showing 10 items of 220 documents
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
2013
Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mutations and deletions in these genes, to assess the clinical phenotype in detail and to identify rational priorities for molecular genetic diagnostics procedures. Design Prospective analysis. Patients 19 Caucasian patients with typical features of WS underwent stepwise investigation of PAX3 and MITF . When point mutations and small insertions/deletions were excluded by direct sequencing, copy number analysis by multiplex ligation-dependent probe …
Audiological Findings in Children With Mucopolysaccharidoses Type I–IV
2017
Abstract Objective The aim of our study is to reflect hearing impairment of 23 children diagnosed with mucopolysaccharidosis (MPS) type I, II, III and IV. Methods Retrospective study of the clinical, audiological and treatment (medical vs surgical) findings of 23 children diagnosed with MPS type I, II, III and IV followed at a Tertiary Referral Hospital between 1997 and 2015. Results Six cases of MPS I, 8 of MPS II, 4 of MPS III and 5 of MPS IV were reviewed. 71.2% of patients had secretory otitis media (SOM) and 54% of patients had some type of hearing loss (HL). The behaviour of hearing loss was variable in each of the subgroups of MPS, finding greater involvement and variability in types…
Vārdu krājuma pilnveidošana bērniem ar dzirdes traucējumiem vispārējā pirmsskolas izglītības iestādē
2015
Kristīne Preija Vārdu krājuma pilnveidošana bērniem ar dzirdes traucējumiem vispārējā pirmsskolas izglītības iestādē Zinātniskā vadītāja: profesore, Dr. paed. Sarmīte Tūbele Darba apjoms: Diplomdarbs izstrādāts pedagoģijas nozarē, pedagoģijas teorijas un spaeciālās pedagoģijas apakšnozarē. Darbs izstrādāts jautājumā par bērna ar dzirdes traucējumiem vārdu krājuma pilnveidošanas iespējām vispārējā pirmsskolas izglītības iestādē. Tas sastāv no divām daļām. 1. Pedagoģiskās un psiholoģiskās atziņas par bērniem ar dzirdes traucējumiem, par vārdu krājuma attīstību, vārdu krājuma pilnveidošanas iespējām pirmsskolas izglītības iestādē. 2. Pētījums par vārdu krājuma attīstību pirms un pēc koriģējoši…
Echolocating Whales and Bats Express the Motor Protein Prestin in the Inner Ear: A Potential Marker for Hearing Loss.
2020
Prestin is an integral membrane motor protein located in outer hair cells of the mammalian cochlea. It is responsible for electromotility and required for cochlear amplification. Although prestin works in a cycle-by-cycle mode up to frequencies of at least 79 kHz, it is not known whether or not prestin is required for the extreme high frequencies used by echolocating species. Cetaceans are known to possess a prestin coding gene. However, the expression and distribution pattern of the protein in the cetacean cochlea has not been determined, and the contribution of prestin to echolocation has not yet been resolved. Here we report the expression of the protein prestin in five species of echolo…
"Ois kiva et se kattois mua ja puhuis" : cochlear implanted learners' experiences of learning English as a foreign language, a case study
2015
Sisäkorvaistutteen (SI) saaneiden lasten määrä kasvaa jatkuvasti ja monet heistä opiskelevat yhtä tai jopa useampaa vierasta kieltä, yleisimmin englantia. Meillä on käsissämme ensimmäinen sukupolvi lapsia ja nuoria, jotka on implantoitu nuorena ja jotka ovat opiskelleet vieraita kieliä SI:n kanssa. Tietooni ei ole tullut, että vieraiden kielten oppimista SI:n kanssa olisi Suomessa vielä tutkittu, joten tämä tutkimus on ainakin ensimmäisten joukossa selvittämässä SI-lasten ja -nuorten kokemuksia englanninoppimisesta. Tutkimukseen osallistui kuusi 10 – 17-vuotiasta sisäkorvaistutteen saanutta lasta. Heitä haastateltiin ja haastattelut analysoitiin sisällönanalyysin keinoin. Tulokset osoittiva…
ASSOCIATION BETWEEN OBSTRUCTIVE APNEA SYNDROME DURING SLEEP AND DAMAGES TO ANTERIOR LABYRINTH: OUR EXPERIENCE.
2019
The obstructive sleep apnea syndrome is a chronic condition characterized by frequent episodes of collapse of the upper airways during sleep. It can be considered a multisystem disease. Among the districts involved, even the auditory system was seen to be concerned. It was enrolled a population of 20 patients after polysomnographic diagnosis of OSAS (Apnea Hypopnea Index > 10) and a control group of 28 healthy persons (Apnea Hypopnea Index < 5). Each patient has been subjected to Pure Tone Audiometry, Tympanometry, study of Acoustic Reflex, Otoacoustic Emissions and Auditory Brainstem Response. Moreover they were submitted to endoscopy of upper airway with Muller Maneuver and Epworth Sleepi…
Unilateral sensorineural hearing loss in scholastic age subjects: Psychopedagogical aspects
2006
The Authors want to assess a probable significant relation between the unilateral sensorineural hearing loss and some learning difficulties and language acquisitions, often found, through our observation, in impaired children. The Authors have examined a group of subjects in their scholastic age who have this kind of hearing loss and, through several dialogues with them, they have gathered some relevant data about the difficulties that children have at school, and drawn up a questionnaire.
Visual and Hearing Impairment Are Associated With Delirium in Hospitalized Patients: Results of a Multisite Prevalence Study
2021
Objective: Sensory deficits are important risk factors for delirium but have been investigated in single-center studies and single clinical settings. This multicenter study aims to evaluate the association between hearing and visual impairment or bi-sensory impairment (visual and hearing impairment) and delirium. Design: Cross-sectional study nested in the 2017 "Delirium Day" project. Setting and participants: Patients 65 years and older admitted to acute hospital medical wards, emergency departments, rehabilitation wards, nursing homes, and hospices in Italy. Methods: Delirium was assessed with the 4AT (a short tool for delirium assessment) and sensory deficits with a clinical evaluation. …
[Paediatric cochlear implantation in the critical period of the auditory pathway, our experience].
2009
Numerous experimental and clinical studies have suggested a critical or sensitive period in which the auditory pathway develops its greatest potential in terms of plasticity and learning. Early cochlear implantation performed in prelingual deaf children in this period provides a better prognosis for language acquisition. The aim of this study is to show the importance of cochlear implantation before this critical period ends.We conducted an observational, longitudinal, retrospective study of 57 children suffering profound prelingual bilateral sensorineural hearing loss who had received Advanced Bionics implants at our ENT department between June, 1998, and November, 2006. Data on their audi…
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study
2020
ObjectiveTo define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes.MethodsPatients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/−) to determine the sequence of events in seizure-related cardiac death.ResultsNinety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnormalities…