Search results for " Deaf"
showing 10 items of 36 documents
Electrical activity controls area-specific expression of neuronal apoptosis in the mouse developing cerebral cortex
2017
Programmed cell death widely but heterogeneously affects the developing brain, causing the loss of up to 50% of neurons in rodents. However, whether this heterogeneity originates from neuronal identity and/or network-dependent processes is unknown. Here, we report that the primary motor cortex (M1) and primary somatosensory cortex (S1), two adjacent but functionally distinct areas, display striking differences in density of apoptotic neurons during the early postnatal period. These differences in rate of apoptosis negatively correlate with region-dependent levels of activity. Disrupting this activity either pharmacologically or by electrical stimulation alters the spatial pattern of apoptos…
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
2018
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations and at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients. We also report a new Latvian kindred with 4 patients. In co…
Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominan…
2017
Background Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Methods Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. Results A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one …
Amusic does not mean unmusical: Beat perception and synchronization ability despite pitch deafness
2013
Pitch deafness, the most commonly known form of congenital amusia, refers to a severe deficit in musical pitch processing (i.e., melody discrimination and recognition) that can leave time processing--including rhythm, metre, and "feeling the beat"--preserved. In Experiment 1, we show that by presenting musical excerpts in nonpitched drum timbres, rather than pitched piano tones, amusics show normal metre recognition. Experiment 2 reveals that body movement influences amusics' interpretation of the beat of an ambiguous drum rhythm. Experiment 3 and a subsequent exploratory study show an ability to synchronize movement to the beat of popular dance music and potential for improvement when give…
Musical familiarity in congenital amusia: Evidence from a gating paradigm
2013
Congenital amusia has been described as a lifelong deficit of music perception and production, notably including amusic individuals' difficulties to recognize a familiar tune without the aid of lyrics. The present study aimed to evaluate whether amusic individuals might have acquired long-term knowledge of familiar music, and to test for the minimal amount of acoustic information necessary to access this knowledge (if any) in amusia. Segments of familiar and unfamiliar instrumental musical pieces were presented with increasing duration (250, 500, 1000 msec etc.), and participants provided familiarity judgments for each segment. Results showed that amusic individuals succeeded in differentia…
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…
Music lessons improve auditory perceptual and cognitive performance in deaf children
2014
Despite advanced technologies in auditory rehabilitation of profound deafness, deaf children often exhibit delayed cognitive and linguistic development and auditory training remains a crucial element of their education. In the present cross-sectional study, we assess whether music would be a relevant tool for deaf children rehabilitation. In normal-hearing children, music lessons have been shown to improve cognitive and linguistic-related abilities, such as phonetic discrimination and reading. We compared auditory perception, auditory cognition, and phonetic discrimination between 14 profoundly deaf children who completed weekly music lessons for a period of 1.5 to 4 years and 14 deaf child…
Music perception and cognition: development, neural basis, and rehabilitative use of music.
2013
Music is a highly versatile form of art and communication that has been an essential part of human society since its early days. Neuroimaging studies indicate that music is a powerful stimulus also for the human brain, engaging not just the auditory cortex but also a vast, bilateral network of temporal, frontal, parietal, cerebellar, and limbic brain areas that govern auditory perception, syntactic and semantic processing, attention and memory, emotion and mood control, and motor skills. Studies of amusia, a severe form of musical impairment, highlight the right temporal and frontal cortices as the core neural substrates for adequate perception and production of music. Many of the basic aud…
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…
Sudden sensorineural hearing loss as prodromal symptom of anterior inferior cerebellar artery infarction.
2011
Sudden sensorineural hearing loss is a clinical condition characterized by a sudden onset of unilateral or bilateral hearing loss. In recent years sudden deafness has been frequently described in association with anterior inferior cerebellar artery (AICA) infarction generally presenting along with other brainstem and cerebellar signs such as ataxia, dysmetria and peripheral facial palsy. The authors report a rare clinical case of a 53-year-old man who suddenly developed hearing loss and tinnitus without any brainstem or cerebellar signs. Computed tomography of his brain was normal, and the audiological results localized the lesion causing deafness to the inner ear. Surprisingly, magnetic re…