mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese

Mutation C1494T in mitochondrial 12S rRNA gene was recently reported in two large Chinese families with aminoglycoside-induced and nonsyndromic hearing loss (AINHL) and was claimed to be pathogenic. This mutation, however, was first reported in a sample f

The hearing gene Prestin unites echolocating bats and whales

This work was supported by a grant from Key Disciplines of Zoology in Sowthwest Forestry University (XKX200903).

Impairments in embryonic genome activation in rhesus monkey somatic cell nuclear transfer embryos

Somatic cell nuclear transfer (SCNT) is a remarkable process in which a somatic cell nucleus is acted upon by the ooplasm via mechanisms that today remain unknown. Here we show the developmental competence (% blastocyst) of embryos derived from SCNT (21%)

A reappraisal of complete mtDNA variation in East Asian families with hearing impairment

In a number of recent studies, we summarized the obvious errors and shortcomings that can be spotted in many (if not most) mitochondrial DNA (mtDNA) data sets published in medical genetics. We have reanalyzed here the complete mtDNA genome data published

Camera-Based Interfaces and Assistive Software for People with Sever Motion Impairments

Intelligent assistive technology can greatly improve the daily lives of people with severe paralysis, who have limited communication abilities. People with motion impairments often prefer camera-based communication interfaces, because these are customizable, comfortable, and do not require user-borne accessories that could draw attention to their disability. We present an overview of assistive software that we specifically designed for camera-based interfaces such as the Camera Mouse, which serves as a mouse-replacement input system. The applications include software for text-entry, web browsing, image editing, animation, and music therapy. Using this software, people with severe motion impairments can communicate with friends and family and have a medium to explore their creativity.

Hearing family carers: report on research undertaken with family carers in Cork

This report details the findings of research undertaken with family carers in Cork during 2007 – 2008. The research was undertaken to elicit the views and experiences of family carers, and in so doing, to gain insight into their perspectives on family caring and on associated support mechanisms. It is hoped that, thereafter, policy can draw on these observations. Three key themes emerged from the research itself. These are (i) the role and position of the family carer in society, (ii) the process of family caring itself and (iii) access to and knowledge of key support services. This report, then, draws attention to the extent and dynamics of family caring, as seen through the opinions and experiences of carers located in and nearby Cork city. It has the following format. In the first instance we turn our attention to a discussion of family caring in Ireland, and associated supports more generally. This includes a discussion on key issues arising in the general discourse around family caring in Ireland and internationally, in order to provide a context from which to locate the experiences of carers involved in this research study. Thereafter, we detail the methodology employed in this research study, which followed a method of research enquiry that values the input of participants from the early stages of research focus and design, and which incorporates qualitative and quantitative methods of enquiry. The research was conceptualised and developed in conjunction with The Carers Association, Cork in keeping with an approach to social research that attempts to link academic and activist/advocacy interests. Its aims were to identify issues that family carers in the locality considered important, with a view to contributing to local knowledge, providing a forum for ongoing research, and to informing policy developments on carers. The focus of the report then turns to profiling carers who participated in the research, examining the care they provide, and discussing support they receive from family, friends and neighbours – from informal sources. We then look to the access carers have to formal and public, community-based support services. We examine their experiences of, and concerns with regard to some of these key services, and look at ways that such issues might be addressed. The next section concentrates on financial supports, a range of which are available to carers, for instance, to supplement income and to assist with home renovations. We look at their uptake and issues arising, again with a view to understanding and addressing them from the perspectives of the service users. Finally, the report turns its attention to aspirations that carers have for themselves; in terms of their own personal, training, and employment options. The report concludes by drawing attention to key issues discussed throughout and makes a number of key recommendations, aimed at addressing the voiced opinions and experiences of carers that have emerged through the research.

Hearing family carers: ‘Going from bad to worse’

This report provides an update to research conducted in 2008 on the experiences and access to supports available to family carers in Cork and published as Hearing Family Carers (O’Riordan, O’hAdhmaill and Duggan 2010). It includes additional research carried out in 2013 with some of the original participants who partook in the earlier research. Given the more recent changes in supports in the context of austerity measures it was considered necessary to consult carers again with reference to their more current experiences, supports and the challenges they face in their informal caring roles.

A qualitative analysis of parental coping with an early diagnosis of hearing loss in Ireland

The recent implementation of Universal Neonatal Hearing Screening (UNHS) in all 19 maternity hospitals across Ireland has precipitated early identification of paediatric hearing loss in an Irish context. This qualitative, grounded theory study centres on the issue of parental coping as families receive and respond to (what is typically) an unexpected diagnosis of hearing loss in their newborn baby. Parental wellbeing is of particular concern as the diagnosis occurs in the context of recovery from birth and at a time when the parent-child relationship is being established. As the vast majority of children with a hearing loss are born into hearing families with no prior history of deafness, parents generally have had little exposure to childhood hearing loss and often experience acute emotional vulnerability as they respond to the diagnosis. The researcher conducted in-depth interviews primarily with parents (and to a lesser extent with professionals), as well as a follow-up postal questionnaire for parents. Through a grounded theory analysis of data, the researcher subsequently fashioned a four-stage model depicting the parental journey of receiving and coping with a diagnosis. The four stages (entitled Anticipating, Confirming, Adjusting and Normalising) are differentiated by the chronology of service intervention and defined by the overarching parental experience. Far from representing a homogenous trajectory, this four-stage model is multifaceted and captures a wide diversity of parental experiences ranging from acute distress to resilient hopefulness

Making it in the Modern Job Market: A Study of Communication among the Deaf and Hard of Hearing Population

Gemstone Team AUDIO (Assessing and Understanding Deaf Individuals' Occupations)

The neural basis of naming impairments in Alzheimer's disease revealed through positron emission tomography.

The naming impairments in Alzheimer's disease (AD) have been attributed to a variety of cognitive processing deficits, including impairments in semantic memory, visual perception, and lexical access. To further understand the underlying biological basis of the naming failures in AD, the present investigation examined the relationship of various classes of naming errors to regional brain measures of cerebral glucose metabolism as measured with 18 F-Fluoro-2-deoxyglucose (FDG) and positron emission tomography (PET). Errors committed on a visual naming test were categorized according to a cognitive processing schema and then examined in relationship to metabolism within specific brain regions. The results revealed an association of semantic errors with glucose metabolism in the frontal and temporal regions. Language access errors, such as circumlocutions, and word blocking nonresponses were associated with decreased metabolism in areas within the left hemisphere. Visuoperceptive errors were related to right inferior parietal metabolic function. The findings suggest that specific brain areas mediate the perceptual, semantic, and lexical processing demands of visual naming and that visual naming problems in dementia are related to dysfunction in specific neural circuits.

Coping, conversation tactics and marital interaction in persons with acquired profound hearing loss (APHL): correlates of distress

This study investigated coping strategies, conversation tactics, and marital interaction in acquired profound hearing loss (APHL) and compared emotionally stable (n = 15) and emotionally distressed (n = 7) participants. Nominated family members were assessed on most measures. Comparisons were also made in the subgroup of married participants. A combined distress criterion was derived from scores on standardized measures of anxiety, depression, hearing handicap, and post-traumatic stress. Groups were compared on the Ways-of-Coping Checklist, a newly devised measure of conversation tactics, and on the Couple Behaviour Report. It was found that distressed APHL participants were more likely to cope through avoidance, self-blame, and wishful thinking, and they used more avoidant tactics in conversation. The coping profile of family members did not differentiate distress groups. However, there was some indication of greater employment of coercive tactics by family members of distressed participants. The results are consistent with the view that the coping style of a person with APHL and the nature of their conversational interactions with family members contribute to their level of distress. Implications for audiological rehabilitation are discussed.

Auditory sensory memory and working memory processes in children with normal hearing and cochlear implants.

There can be wide variation in the level of oral/aural language ability that prelingually hearing-impaired children develop after cochlear implantation. Automatic perceptual processing mechanisms have come under increasing scrutiny in attempts to explain this variation. Using mismatch negativity methods, this study explored associations between auditory sensory memory mechanisms and verbal working memory function in children with cochlear implants and a group of hearing controls of similar age. Whilst clear relationships were observed in the hearing children between mismatch activation and working memory measures, this association appeared to be disrupted in the implant children. These findings would fit with the proposal that early auditory deprivation and a degraded auditory signal can cause changes in the processes underpinning the development of oral/aural language skills in prelingually hearing-impaired children with cochlear implants and thus alter their developmental trajectory

Impairments of hippocampal synaptic plasticity induced by aggregated beta-amyloid (25-35) are dependent on stimulation-protocol and genetic background

The aggregation of beta-amyloid to plaques in the brain is one of the hallmarks of Alzheimer disease (AD). Numerous studies have tried to elucidate to what degree amyloid peptides play a role in the neurodegenerative developments seen in AD. While most studies report an effect of amyloid on neural activity and cognitive abilities of rodents, there have been many inconsistencies in the results. This study investigated to what degree the different genetic backgrounds affect the outcome of beta-amyloid fragment (25-35) on synaptic plasticity in vivo in the rat hippocampus. Two strains, Wistar and Lister hooded rats, were tested. In addition, the effects of a strong (600 stimuli) and a weak stimulation protocol (100 stimuli) on impairments of LTP were analysed. Furthermore, since the state of amyloid aggregation appears to play a role in the induction of toxic processes, it was tested by dual polarisation interferometry to what degree and at what speed beta-amyloid (25-35) can aggregate in vitro. It was found that 100 nmol beta-amyloid (25-35) injected icv did impair LTP in Wistar rats when using the weak but not the strong stimulation protocol (P <0.001). One-hundred nano mole of the reverse sequence amyloid (35-25) had no effect. LTP in Lister Hooded rats was not impaired by amyloid at any stimulation protocol. The aggregation studies showed that amyloid (25-35) aggregated within hours, while amyloid (35-25) did not. These results show that the genetic background and the stimulation protocol are important variables that greatly influence the experimental outcome. The fact that amyloid (25-35) aggregated quickly and showed neurophysiological effects, while amyloid (35-25) did not aggregate and did not show any effects indicates that the state of aggregation plays an important role in the physiological effects.