Facilitating and disrupting speech perception in word deafness

Background: Word deafness is a rare condition where pathologically degraded speech perception results in impaired repetition and comprehension but otherwise intact linguistic skills. Although impaired linguistic systems in aphasias resulting from damage to the neural language system (here termed central impairments), have been consistently shown to be amenable to external influences such as linguistic or contextual information (e.g. cueing effects in naming), it is not known whether similar influences can be shown for aphasia arising from damage to a perceptual system (here termed peripheral impairments). Aims: This study aimed to investigate the extent to which pathologically degraded speech perception could be facilitated or disrupted by providing visual as well as auditory information. Methods and Procedures: In three word repetition tasks, the participant with word deafness (AB) repeated words under different conditions: words were repeated in the context of a pictorial or written target, a distractor (semantic, unrelated, rhyme or phonological neighbour) or a blank page (nothing). Accuracy and error types were analysed. Results: AB was impaired at repetition in the blank condition, confirming her degraded speech perception. Repetition was significantly facilitated when accompanied by a picture or written example of the word and significantly impaired by the presence of a written rhyme. Errors in the blank condition were primarily formal whereas errors in the rhyme condition were primarily miscues (saying the distractor word rather than the target). Conclusions: Cross-modal input can both facilitate and further disrupt repetition in word deafness. The cognitive mechanisms behind these findings are discussed. Both top-down influence from the lexical layer on perceptual processes as well as intra-lexical competition within the lexical layer may play a role.  

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred Brazilian pedigree with 26 subjects affected by prelingual deafness. Given the extensive consanguinity found in this pedigree, the most probable pattern of inheritance is autosomal recessive. However, our linkage and mutational analysis revealed, instead of an expected homozygous mutation in a single gene, two different mutant alleles and a possible third undetected mutant allele in the MYO15A gene (DFNB3 locus), as well as evidence for other causes for deafness in the same pedigree. Among the 26 affected subjects, 15 were homozygous for the novel c.10573delA mutation in the MYO15A gene, 5 were compound heterozygous for the mutation c.10573delA and the novel deletion c.9957_9960delTGAC and one inherited only a single c.10573delA mutant allele, while the other one could not be identified. Given the extensive consanguinity of the pedigree, there might be at least one more deafness locus segregating to explain the condition in some of the subjects whose deafness is not clearly associated with MYO15A mutations, although overlooked environmental causes could not be ruled out. Our findings illustrate a high level of etiological heterogeneity for deafness in the family and highlight some of the pitfalls of genetic analysis of large genes in extended pedigrees, when homozygosity for a single mutant allele is expected.

Relational learning in children with deafness and cochlear implants

This four-experiment series sought to evaluate the potential of children with neurosensory deafness and cochlear implants to exhibit auditory-visual and visual-visual stimulus equivalence relations within a matching-to-sample format. Twelve children who became deaf prior to acquiring language (prelingual) and four who became deaf afterwards (postlingual) were studied. All children learned auditory-visual conditional discriminations and nearly all showed emergent equivalence relations. Naming tests, conducted with a subset of the: children, showed no consistent relationship to the equivalence-test outcomes.. This study makes several contributions: to the literature on stimulus equivalence. First; it demonstrates that both pre- and postlingually deaf children-can: acquire auditory-visual equivalence-relations after cochlear implantation, thus demonstrating symbolic functioning. Second, it directs attention to a population that may be especially interesting for researchers seeking to analyze the relationship. between speaker and listener repertoires. Third, it demonstrates the feasibility of conducting experimental studies of stimulus control processes within the limitations of a hospital, which these children must visit routinely for the maintenance of their cochlear implants.

Sudden bilateral deafness from hyperleukocytosis in chronic myeloid leukemia

Sudden-onset bilateral deafness as a clinical manifestation of hyperleukocytosis in chronic myeloid leukemia (CML) is a rare occurrence. We found only 27 clinical descriptions in 16 published papers. In this work, the authors present a review on deafness in CML and describe a new case with prominent hyperleukocytosis, where the neurological findings suggest slowing of the circulation through small blood vessels in the brainstem as the cause of deafness. The evolution was good after treatment. To our knowledge, this is the second case documented with electrical auditory brainstem-evoked potentials and the first with magnetic resonance imaging. Copyright (C) 2000 S. Karger AG, Basel.

Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family

We ascertained a Brazilian family with nine individuals affected by autosomal dominant nonsyndromic sensorineural hearing loss. The bilateral hearing loss affected mainly mid-high frequencies, was apparently stable with an early onset. Microsatellites close to the DFNA8/DFNA12 locus, which harbors the TECTA gene, showed significant multipoint lod scores (32) close to marker D11S4107. Sequencing of the exons and exon-intron boundaries of the TECTA gene in one affected subject revealed the deletion c.5383 + 5delGTGA in the 5' end of intron 16, that includes the last two bases of the donor splice site consensus sequence. This mutation segregates with deafness within the family. To date, 33 different TECTA mutations associated with autossomal dominant hearing loss have been described. Among them is the mutation reported herein, first described by Hildebrand et al. (2011) in a UK family. The audioprofiles from the UK and Brazilian families were similar. In order to investigate the transcripts produced by the mutated allele, we performed cDNA analysis of a lymphoblastoid cell line from an affected heterozygote with the c.5383 + 5delGTGA and a noncarrier from the same family. The analysis allowed us to identify an aberrant transcript with skipping of exon 16, without affecting the reading frame. One of the dominant TECTA mutations already described, a synonymous substitution in exon 16 (c.5331 G<A), was also shown to affect splicing resulting in an aberrant transcript lacking exon 16. Despite the difference in the DNA level, both the synonymous substitution in exon 16 (c.5331 G<A) and the mutation described herein affect splicing of exon 16, leading to its skipping. At the protein level they would have the same effect, an in-frame deletion of 37 amino-acids (p.S1758Y/G1759_N1795del) probably leading to an impaired function of the ZP domain. Thus, like the TECTA missense mutations associated with dominant hearing loss, the c5383 + 5delGTGA mutation does not have an inactivating effect on the protein. (C) 2012 Elsevier B.V. All rights reserved.

Factors influencing the decision for Baha in unilateral deafness: the Bern benefit in single-sided deafness questionnaire

The data of 46 adults with single-sided sensorineural deafness who were candidates for bone-anchored hearing aids (Baha) CROS (contralateral routing of signals) were analyzed. All candidates tested a Baha with a headband in their normal environment. Subsequently, 29 of the candidates chose a permanent Baha CROS fitting, and 17 declined, thus forming the two study groups. No significant difference regarding age, sex or duration of deafness was found between the two groups. Similarly, the transcranial attenuation was not significantly different between those who accepted and declined a Baha. Subjects with some residual hearing in their poorer ear tended to decline a Baha, but the effect was not statistically significant. For a subset of 28 subjects, the Bern Benefit in Single-Sided Deafness questionnaire was administered. The questionnaire consists of 10 visual analogue scales rating the subjectively perceived benefit of the Baha or any other CROS device in different situations. Scores were found to be significantly higher for speech understanding at some distance (p = 0.026), for speech understanding in noise (p = 0.037), for group conversations (p < 0.01), and for the overall benefit (p < 0.01) for those candidates who chose to use a Baha as a CROS device permanently.

Benefits of low-frequency attenuation of baha® in single-sided sensorineural deafness

To investigate the effect of low-frequency attenuation of Bone-Anchored Hearing Aids (Bahas) in users with single-sided sensorineural deafness (SSD). The underlying notion is that low-frequency sounds up to approximately 1500 Hz reach the contralateral ear without significant attenuation and that Bahas tend to show more distortion at lower frequencies. Furthermore, to transmit low frequencies, higher moving masses are needed when compared with high frequencies.

Assessment of speech perception and communication skills in adolescents with cochlear implants for pre- and peri-lingual deafness

This study aimed to assess speech perception and communication skills in adolescents between ages 8 and 18 that received cochlear implants for pre- and peri-lingual deafness.

Does a pleiotropic gene explain deafness and blue irises in white cats?

The prevalence of deafness is high in cat populations in which the dominant white gene is segregating. The objective of this study was to investigate whether there is a gene that is responsible for deafness as well as for blue eyes and to establish a plausible mode of inheritance. For this purpose, data from an experimental colony with deaf cats were analyzed. The hearing status was determined by acoustically evoked brain stem responses (BAER). Complex segregation analyses were conducted to find out the most probable mode of inheritance using maximum likelihood procedures. The prevalence of deafness and partial hearing in the experimental colony was 67% and 29%, respectively. The results of the bivariate segregation analysis support the hypothesis of a pleiotropic major gene segregating for deafness and blue iris colour. The high heritability coefficients for both traits, 0.55 and 0.75 respectively, indicate that beside the major gene there is an important influence of polygenic effects.

Influence of directionality and maximal power output on speech understanding with bone anchored hearing implants in single sided deafness

Bone-anchored hearing implants (BAHI) are routinely used to alleviate the effects of the acoustic head shadow in single-sided sensorineural deafness (SSD). In this study, the influence of the directional microphone setting and the maximum power output of the BAHI sound processor on speech understanding in noise in a laboratory setting were investigated. Eight adult BAHI users with SSD participated in this pilot study. Speech understanding in noise was measured using a new Slovak speech-in-noise test in two different spatial settings, either with noise coming from the front and noise from the side of the BAHI (S90N0) or vice versa (S0N90). In both spatial settings, speech understanding was measured without a BAHI, with a Baha BP100 in omnidirectional mode, with a BP100 in directional mode, with a BP110 power in omnidirectional and with a BP110 power in directional mode. In spatial setting S90N0, speech understanding in noise with either sound processor and in either directional mode was improved by 2.2-2.8 dB (p = 0.004-0.016). In spatial setting S0N90, speech understanding in noise was reduced by either BAHI, but was significantly better by 1.0-1.8 dB, if the directional microphone system was activated (p = 0.046), when compared to the omnidirectional setting. With the limited number of subjects in this study, no statistically significant differences were found between the two sound processors.

Neurotologic and functional MRI findings in a patient with bilateral profound deafness having Brown-Vialetto-Van Leare syndrome

INTRODUCTION We report the first findings of functional magnetic resonance imaging of the auditory cortex in a young woman with a bilateral cochleovestibular deficit as first manifestation of Brown-Vialetto-Van Leare syndrome. The patient had no open speech discrimination, even with hearing aids, and is depending on lip reading for communication. METHODS To evaluate the possible efficiency of a cochlear implantation, we investigated hemodynamic responses within the central auditory pathways using an auditory functional magnetic resonance imaging paradigm. RESULTS Blood oxygen level-dependent correlates were detected bilaterally along the auditory pathways after exposure to intermittent clicking tone stimulation at 2 kHz. CONCLUSION These results suggest integrity of the central auditory pathways and represent a positive argument to propose a cochlear implantation with the aim to restore hearing.

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, Fanconi syndrome (tubulopathy), microcephaly, mental and growth retardation. All three patients presented with transitory metabolic acidosis in the neonatal period and development of persistent renal de Toni-Debré-Fanconi-type tubulopathy, with subsequent rachitis, short stature, microcephaly, sensorineural hearing impairment, mild mental retardation and liver dysfunction. The novel missense mutation c.142A>G (p.M48V) in BCS1L is located at a highly conserved region associated with sorting to the mitochondria. Biochemical analysis revealed an isolated complex III deficiency in skeletal muscle not detected in fibroblasts. Native polyacrylamide gel electrophoresis (PAGE) revealed normal super complex formation, but a shift in mobility of complex III most likely caused by the absence of the BCS1L-mediated insertion of Rieske Fe/S protein into complex III. These findings expand the phenotypic spectrum of BCS1L mutations, highlight the importance of biochemical analysis of different primary affected tissue and underline that neonatal lactic acidosis with multi-organ involvement may resolve after the newborn period with a relatively spared neurological outcome and survival into adulthood. CONCLUSION Mutation screening for BCS1L should be considered in the differential diagnosis of severe (proximal) tubulopathy in the newborn period. What is Known: • Mutations in BCS1L cause mitochondrial complex III deficiencies. • Phenotypic presentations of defective BCS1L range from Bjornstad to neonatal GRACILE syndrome. What is New: • Description of a novel homozygous mutation in BCS1L with transient neonatal acidosis and persistent de Toni-Debré-Fanconi-type tubulopathy. • The long survival of patients with phenotypic presentation of severe complex III deficiency is uncommon.