Search results for "deaf"
showing 10 items of 104 documents
Cervico-Oculo-Acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?
1990
A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethali…
Treatment of sudden sensorineural hearing loss with transtympanic injection of steroids as single therapy: a randomized clinical study.
2011
The aim of this study was to verify the efficacy and the safety of transtympanic dexamethasone to treat sudden sensorineural hearing loss as first and single drug method. Considering ethical implication of performing a mininvasive procedure on middle ear, we matched such proposed treatment with systemic prednisone administration that represents the widest adopted protocol. Randomized prospective study was conducted. The inclusion criterion was a sudden sensorineural hearing loss of at least 30 dB across three contiguous frequencies over a period of 24 h. Group A received transtympanic steroid injections; Group B received oral administration of steroids. 25 patients were treated with transty…
The Self-Concept of Deaf/Hard-of-Hearing and Hearing Students.
2016
The present study investigated the self-concept of deaf and hard-of-hearing (DHH) students in different educational settings compared with those of hearing students in Ethiopia. The research involved a sample of 103 Grade 4 students selected from 7 towns in Ethiopia. They were selected from a special school for the deaf, a special class for the deaf, and a regular school. The Self-Description Questionnaire I ( Marsh, 1990 ) was used to measure the children’s self-concept. The study results indicated that, in comparison with their hearing peers, DHH students had a lower self-concept in the areas of general self, general school, reading, and parental relations. The DHH students in the special…
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
2013
Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of nonsyndromic hearing impairment are extremely rare. Here, we present a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss and the underlying genetic defect. Next-generation sequencing and subsequent segregation analysis detected a missense mutation (c.1771G>A, p.Gly591Ser) in the type IV collagen gene COL4A6 in all affected family members. Bioinformatic analysis an…
Time-Course of Grammatical Processing in Deaf Readers: An Eye-Movement Study.
2019
Abstract Twenty participants who were deaf and 20 chronological age-matched participants with typical hearing (TH) (mean age: 12 years) were asked to judge the correctness of written sentences with or without a grammatically incongruent word while their eye movements were registered. TH participants outperformed deaf participants in grammaticality judgment accuracy. For both groups, First Pass and Total Fixation Times of target words in correct trials were significantly longer in the incongruent condition than in the congruent one. However, whereas TH students showed longer First Pass in the target area than deaf students across congruity conditions, deaf students made more fixations than t…
Das Usher-Syndrom, eine Ziliopathie des Menschen
2018
ZusammenfassungDas humane Usher-Syndrom (USH) ist eine seltene, komplexe genetische Erkrankung, die sich in kombinierter Taubblindheit manifestiert. Aufgrund der Ausprägung des Krankheitsbilds werden 3 klinische Typen (USH1 – 3) unterschieden. Für eine korrekte Diagnose sind zusätzlich zu den auditorischen Tests im Zuge des Neugeborenenscreens auch frühe ophthalmologische Untersuchungen und eine molekulargenetische Abklärung notwendig. Die bislang 10 bekannten USH-Gene codieren für heterogene Proteine, die in Proteinnetzwerken miteinander in Funktionseinheiten kooperieren. Im Auge und im Ohr werden USH-Proteine vor allem in den mechanosensitiven Haarsinneszellen und den Stäbchen- und Zapfen…
Auditory, speech and language development in young children with cochlear implants compared with children with normal hearing.
2010
Abstract Objective This study had two aims: (1) to document the auditory and lexical development of children who are deaf and received the first cochlear implant (CI) by the age of 16 months and the second CI by the age of 31 months and (2) to compare these children's results with those of children with normal hearing (NH). Methods This longitudinal study included five children with NH and five with sensorineural deafness. All children of the second group were observed for 36 months after the first fitting of the device (cochlear implant). The auditory development of the CI group was documented every 3 months up to the age of two years in hearing age and chronological age and for the NH gro…
“Do you understand (me)?” negotiating mutual understanding by using gaze and environmentally coupled gestures between two deaf signing participants
2020
Abstract In this paper we explore the use of multimodal and multilingual semiotic resources in interactions between two deaf signing participants, a researcher and an asylum seeker. The focus is on the use of gaze and environmentally coupled gestures. Drawing on multimodal analysis and linguistic ethnography, we demonstrate how gaze and environmentally coupled gestures are effective semiotic resources for reaching mutual understanding. The study provides insight into the challenges and opportunities (deaf) asylum seekers, researchers, and employees of reception centres or the state may encounter because of the asymmetrical language competencies. Our concern is that such asymmetrical situati…
Cerebral lateralisation during signed and spoken language production in children born deaf
2019
Highlights • Children born deaf show typical left-hemisphere dominance during language production. • No evidence of an association between left-lateralisation and language proficiency. • Exposure to auditory speech via a cochlear implant is not a prerequisite for left hemisphere language dominance.
Academic achievement and self-concept of deaf and hard-of-hearing and hearing students transitioning from the first to second cycle of primary school…
2018
ABSTRACTThis study was done to examine the transition of deaf and hard-of-hearing (DHH) and hearing students from the first cycle (Grade 4) to the second cycle (Grade 5) of primary education in Ethiopia. Academic achievement and self-concept were measured longitudinally with 103 DHH and hearing students. Participants were selected from three different settings (special schools, special classes and regular schools). Self-Description Questionnaire I (Marsh, H. W. 1990. Self-Description Questionnaire – I (SDQ I). Manual. MacArthur, NSW, Australia: University of Western Sydney) was used to measure the children’s self-concept. The results showed a decrease in the academic achievement and academi…