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Hearing Research Mar 2020This study investigated the relationship between smoking and hearing loss and deafness (HLD) and whether the relationship is modified by genetic variation. Data for...
BACKGROUND
This study investigated the relationship between smoking and hearing loss and deafness (HLD) and whether the relationship is modified by genetic variation. Data for these analyses was from the subset of Japanese American families collected as part of the American Diabetes Association Genetics of Non-insulin Dependent Diabetes Mellitus study. Logistic regression with generalized estimating equations assessed the relationship between HLD and smoking. Nonparametric linkage analysis identified genetic regions harboring HLD susceptibility genes and ordered subset analysis was used to identify regions showing evidence for gene-smoking interactions. Genetic variants within these candidate regions were then each tested for interaction with smoking using logistic regression models.
RESULTS
After adjusting for age, sex, diabetes status and smoking duration, for each pack of cigarettes smoked per day, risk of HLD increased 4.58 times (odds ratio (OR) = 4.58; 95% Confidence Interval (CI): (1.40,15.03)), and ever smokers were over 5 times more likely than nonsmokers to report HLD (OR = 5.22; 95% CI: (1.24, 22.03)). Suggestive evidence for linkage for HLD was observed in multiple genomic regions (Chromosomes 5p15, 8p23 and 17q21), and additional suggestive regions were identified when considering interactions with smoking status (Chromosomes 7p21, 11q23, 12q32, 15q26, and 20q13) and packs-per-day (Chromosome 8q21).
CONCLUSIONS
To our knowledge this was the first report of possible gene-by-smoking interactions in HLD using family data. Additional work, including independent replication, is needed to understand the basis of these findings. HLD are important public health issues and understanding the contributions of genetic and environmental factors may inform public health messages and policies.
Topics: Adaptor Proteins, Signal Transducing; Adult; Aged; Asian; Cyclic Nucleotide Phosphodiesterases, Type 7; Deafness; Female; Gene-Environment Interaction; Genetic Predisposition to Disease; Genome-Wide Association Study; Hearing; Humans; Japan; Male; Membrane Proteins; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Prevalence; Repressor Proteins; Risk Assessment; Risk Factors; Smoking; United States
PubMed: 31896498
DOI: 10.1016/j.heares.2019.107875 -
The Indian Journal of Medical Research Nov 2020
Topics: Deafness; Humans; Osteogenesis Imperfecta
PubMed: 35345159
DOI: 10.4103/ijmr.IJMR_2196_19 -
BMC Biology Mar 2022Mice carrying targeted mutations are important for investigating gene function and the role of genes in disease, but off-target mutagenic effects associated with the...
BACKGROUND
Mice carrying targeted mutations are important for investigating gene function and the role of genes in disease, but off-target mutagenic effects associated with the processes of generating targeted alleles, for instance using Crispr, and culturing embryonic stem cells, offer opportunities for spontaneous mutations to arise. Identifying spontaneous mutations relies on the detection of phenotypes segregating independently of targeted alleles, and having a broad estimate of the level of mutations generated by intensive breeding programmes is difficult given that many phenotypes are easy to miss if not specifically looked for. Here we present data from a large, targeted knockout programme in which mice were analysed through a phenotyping pipeline. Such spontaneous mutations segregating within mutant lines may confound phenotypic analyses, highlighting the importance of record-keeping and maintaining correct pedigrees.
RESULTS
Twenty-five lines out of 1311 displayed different deafness phenotypes that did not segregate with the targeted allele. We observed a variety of phenotypes by Auditory Brainstem Response (ABR) and behavioural assessment and isolated eight lines showing early-onset severe progressive hearing loss, later-onset progressive hearing loss, low frequency hearing loss, or complete deafness, with vestibular dysfunction. The causative mutations identified include deletions, insertions, and point mutations, some of which involve new genes not previously associated with deafness while others are new alleles of genes known to underlie hearing loss. Two of the latter show a phenotype much reduced in severity compared to other mutant alleles of the same gene. We investigated the ES cells from which these lines were derived and determined that only one of the 8 mutations could have arisen in the ES cell, and in that case, only after targeting. Instead, most of the non-segregating mutations appear to have occurred during breeding of mutant mice. In one case, the mutation arose within the wildtype colony used for expanding mutant lines.
CONCLUSIONS
Our data show that spontaneous mutations with observable effects on phenotype are a common side effect of intensive breeding programmes, including those underlying targeted mutation programmes. Such spontaneous mutations segregating within mutant lines may confound phenotypic analyses, highlighting the importance of record-keeping and maintaining correct pedigrees.
Topics: Alleles; Animals; Deafness; Hearing Loss; Mice; Mutagenesis; Mutation
PubMed: 35296311
DOI: 10.1186/s12915-022-01257-8 -
Lin Chuang Er Bi Yan Hou Tou Jing Wai... Mar 2022To explore the perioperative period characteristics of paediatric cochlear implant recipients of CHARGE syndrome with complex deformities. Retrospective case series of...
To explore the perioperative period characteristics of paediatric cochlear implant recipients of CHARGE syndrome with complex deformities. Retrospective case series of CHARGE syndrome were included. Radiological results, intraoperative findings, surgical planning and post-operative complications were analyzed. Routine audiometric measurements, speech perception categories and speech intelligibility ratings were performed pre and post-operatively to measure auditory speech rehabilitation outcomes. Five prelingual profoundly deaf children were identified, aged from 14 months to 60 months. All patients had congenital heart disease and underwent surgery before cochlear implantation. Upper airway abnormalities were detected as choanal atresia, laryngomalacia and tracheal stenosis. All ten ears showed cochlear abnormalities(Incomplete partition Ⅱ), eight of them combined with secretory otitis media and/or middle ear deformity. All patients underwent single side surgery using standard transmastoid facial recess approach. Full insertion of the electrode was achieved in two cochleas, while partial insertion was done in three cochleas. Three ears with absent auditory nerves in MRI showed no response in the neural remote test. All patients had improved audio-speech performance with CAP scores 3.0±0.7 and 3.6±0.9, SIR scores 1.2±0.4 and 1.8±0.8, IT-MAIS scores 18.8±9.1 and 26.2±10.0, MUSS scores 2.2±2.4 and 7.2±8.3 after twelve months and twenty-four months follow up. Cochlear implantation in patients with CHARGE syndrome is a challenge in both its surgical and rehabilitation aspects due to multiple abnormalities. Adequate treatment planning is necessary for safe and effective surgery, including airway structures and intricate temporal bone landmarks.
Topics: CHARGE Syndrome; Child; Cochlear Implantation; Cochlear Implants; Cochlear Nerve; Deafness; Humans; Infant; Retrospective Studies; Speech Intelligibility; Speech Perception; Treatment Outcome
PubMed: 35193342
DOI: 10.13201/j.issn.2096-7993.2022.03.009 -
Tijdschrift Voor Psychiatrie 2023In the general mental health care the psychiatric diagnosis is the major focus of treatment. With deaf and hard of hearing clients a boarder scope is needed to include...
BACKGROUND
In the general mental health care the psychiatric diagnosis is the major focus of treatment. With deaf and hard of hearing clients a boarder scope is needed to include the impact of language development on the psychiatric diagnoses.
AIM
Clarifying challenges and possibilities in mental health treatment of deaf and hard of hearing clients.
METHOD
Following the steps of the treatment process we will elaborate on challenges and possibilities in diagnosing and evidence-based treatment methods.
RESULTS
Treatment of psychiatric diagnoses of deaf and hard of hearing clients can be very effective if offered in sign language, with respect for cultural aspects and slight adjustments to treatment methods as CBT, EMDR, schema-focused therapy and psychopharmaceuticals.
CONCLUSION
Knowledge of the deaf and hard of hearing experience is crucial in the treatment of psychiatric diagnoses of patients.
Topics: Humans; Deafness; Hearing Loss; Mental Disorders; Sign Language; Hearing
PubMed: 36951782
DOI: No ID Found -
Human Brain Mapping Nov 2023Deaf individuals may report difficulties in social interactions. However, whether these difficulties depend on deafness affecting social brain circuits is controversial.... (Meta-Analysis)
Meta-Analysis
Deaf individuals may report difficulties in social interactions. However, whether these difficulties depend on deafness affecting social brain circuits is controversial. Here, we report the first meta-analysis comparing brain activations of hearing and (prelingually) deaf individuals during social perception. Our findings showed that deafness does not impact on the functional mechanisms supporting social perception. Indeed, both deaf and hearing control participants recruited regions of the action observation network during performance of different social tasks employing visual stimuli, and including biological motion perception, face identification, action observation, viewing, identification and memory for signs and lip reading. Moreover, we found increased recruitment of the superior-middle temporal cortex in deaf individuals compared with hearing participants, suggesting a preserved and augmented function during social communication based on signs and lip movements. Overall, our meta-analysis suggests that social difficulties experienced by deaf individuals are unlikely to be associated with brain alterations but may rather depend on non-supportive environments.
Topics: Humans; Deafness; Visual Perception; Hearing; Neuroimaging; Social Perception
PubMed: 37609693
DOI: 10.1002/hbm.26444 -
Journal of Speech, Language, and... Apr 2023Verbal fluency tasks assess the ability to quickly and efficiently retrieve words from the mental lexicon by requiring subjects to rapidly generate words within a...
PURPOSE
Verbal fluency tasks assess the ability to quickly and efficiently retrieve words from the mental lexicon by requiring subjects to rapidly generate words within a phonological or semantic category. This study investigated differences between cochlear implant users and normal-hearing peers in the clustering and time course of word retrieval during phonological and semantic verbal fluency tasks.
METHOD
Twenty-eight children and adolescents (aged 9-17 years) with cochlear implants and 33 normal-hearing peers completed measures of verbal fluency, nonverbal intelligence, speech perception, and verbal short-term/working memory. Phonological and semantic verbal fluency tests were scored for total words generated, words generated in each 10-s interval of the 1-min task, latency to first word generated, number of word clusters, average cluster size, and number of word/cluster switches.
RESULTS
Children and adolescents with cochlear implants generated fewer words than normal-hearing peers throughout the entire 60-s time interval of the phonological and semantic fluency tasks. Cochlear implant users also had slower start latency times and produced fewer clusters and switches than normal-hearing peers during the phonological fluency task. Speech perception and verbal working memory scores were more strongly associated with verbal fluency scores in children and adolescents with cochlear implants than in normal-hearing peers.
CONCLUSIONS
Cochlear implant users show poorer phonological and semantic verbal fluency than normal-hearing peers, and their verbal fluency is significantly associated with speech perception and verbal working memory. These findings suggest deficits in fluent retrieval of phonological and semantic information from long-term lexical memory in cochlear implant users.
Topics: Humans; Child; Adolescent; Cochlear Implants; Cochlear Implantation; Semantics; Memory, Short-Term; Linguistics; Speech Perception; Deafness
PubMed: 36857026
DOI: 10.1044/2022_JSLHR-22-00383 -
Journal of Deaf Studies and Deaf... Jan 2020While sibling relationships are known to be important for children's social and emotional well-being, little is known about sibling relationships when both siblings are...
While sibling relationships are known to be important for children's social and emotional well-being, little is known about sibling relationships when both siblings are deaf or hard-of-hearing (DHH). In-depth interviews were conducted with 10 young DHH adults (20-30 years old) who had studied in mainstream schools to explore their retrospective experiences of growing up with a DHH sibling. Interviews were analyzed using interpretive phenomenological analysis. Findings revealed two superordinate themes: (1) sibling relationship and sense of self and (2) family coping and relationships, with each superordinate theme containing several subthemes. Findings highlighted the various ways sibling relationships contribute to siblings' psychological development, identity formation, and coping with deafness. Potential challenges were identifed, as well as the role of parents' attitudes and coping with hearing loss in promoting supportive sibling relationships. Parents and professionals should be aware of the valuable and unique aspects of DHH siblingship and attend to imporatnt relationship asepcts such as sibling communication, sibling comparisons, and parental differential treatment.
Topics: Adult; Attitude to Health; Deafness; Family; Female; Hearing Loss; Humans; Interviews as Topic; Male; Parents; Self Concept; Siblings; Social Support; Young Adult
PubMed: 31875906
DOI: 10.1093/deafed/enz038 -
Ear and Hearing 2022This article summarizes the available evidence on pediatric cochlear implantation to provide current guidelines for clinical protocols and candidacy recommendations in...
This article summarizes the available evidence on pediatric cochlear implantation to provide current guidelines for clinical protocols and candidacy recommendations in the United States. Candidacy determination involves specification of audiologic and medical criteria per guidelines of the Food and Drug Administration. However, recommendations for a cochlear implant evaluation also should maintain flexibility and consider a child's skill progression (i.e., month-for-month progress in speech, language, and auditory development) and quality of life with appropriately fit hearing aids. Moreover, evidence supports medical and clinical decisions based on other factors, including (a) ear-specific performance, which affords inclusion of children with asymmetric hearing loss and single-sided deafness as implant candidates; (b) ear-specific residual hearing, which influences surgical technique and device selection to optimize hearing; and (c) early intervention to minimize negative long-term effects on communication and quality of life related to delayed identification of implant candidacy, later age at implantation, and/or limited commitment to an audiologic rehabilitation program. These evidence-based guidelines for current clinical protocols in determining pediatric cochlear implant candidacy encourage a team-based approach focused on the whole child and the family system.
Topics: Child; Cochlear Implantation; Cochlear Implants; Deafness; Hearing Aids; Hearing Loss; Humans; Quality of Life; Speech Perception; United States
PubMed: 35213891
DOI: 10.1097/AUD.0000000000001087 -
Trends in Hearing 2023Age-related hearing loss, presbycusis, is an unavoidable sensory degradation, often associated with the progressive decline of cognitive and social functions, and...
Age-related hearing loss, presbycusis, is an unavoidable sensory degradation, often associated with the progressive decline of cognitive and social functions, and dementia. It is generally considered a natural consequence of the inner-ear deterioration. However, presbycusis arguably conflates a wide array of peripheral and central impairments. Although hearing rehabilitation maintains the integrity and activity of auditory networks and can prevent or revert maladaptive plasticity, the extent of such neural plastic changes in the aging brain is poorly appreciated. By reanalyzing a large-scale dataset of more than 2200 cochlear implant users (CI) and assessing the improvement in speech perception from 6 to 24 months of use, we show that, although rehabilitation improves speech understanding on average, age at implantation only minimally affects speech scores at 6 months but has a pejorative effect at 24 months post implantation. Furthermore, older subjects (>67 years old) were significantly more likely to degrade their performances after 2 years of CI use than the younger patients for each year increase in age. Secondary analysis reveals three possible plasticity trajectories after auditory rehabilitation to account for these disparities: Awakening, reversal of deafness-specific changes; Counteracting, stabilization of additional cognitive impairments; or Decline, independent pejorative processes that hearing rehabilitation cannot prevent. The role of complementary behavioral interventions needs to be considered to potentiate the (re)activation of auditory brain networks.
Topics: Humans; Infant; Aged; Presbycusis; Deafness; Hearing; Cochlear Implants; Cochlear Implantation; Aging; Speech Perception; Brain
PubMed: 36794429
DOI: 10.1177/23312165231156412