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JAMA Otolaryngology-- Head & Neck... Oct 2020
Review
Topics: Cochlear Implantation; Deafness; Hearing Loss, Unilateral; Humans; Speech Perception
PubMed: 32857123
DOI: 10.1001/jamaoto.2020.2287 -
Journal of Deaf Studies and Deaf... Apr 2020Deaf and hard-of-hearing adolescents (DHH) experience more peer problems and lower levels of friendships than their hearing peers. This study used a qualitative approach... (Review)
Review
Deaf and hard-of-hearing adolescents (DHH) experience more peer problems and lower levels of friendships than their hearing peers. This study used a qualitative approach to identify their experiences of peer problems and factors influencing them. A sample of 30, 13-19 year-old DHH adolescents with a moderate to profound hearing loss, drawn from a population-based cohort study in which their receptive language and social-emotional skills had been assessed, underwent semi-structured interviews. Interviews were analyzed using thematic analysis. Participants reported that, overall, they had developed positive and rewarding relationships with their peers, notwithstanding their earlier experience of being bullied. Conflicts and infrequency of interaction in their friendships were mainly reported by girls. Adolescents with moderate hearing loss were identified as facing the same or even more barriers than adolescents with severe to profound hearing loss in making new friends. Implications for educational practice are discussed.
Topics: Deafness; Hearing; Hearing Loss; Humans; Peer Group; Social Skills
PubMed: 32048717
DOI: 10.1093/deafed/enz048 -
American Journal of Audiology Jun 2021Background It is unknown whether hospital outcomes differ among nonspeaking deaf patients compared to those without this disability. Objective This article aims to...
Background It is unknown whether hospital outcomes differ among nonspeaking deaf patients compared to those without this disability. Objective This article aims to compare clinical outcomes and utilization data among patients with and without deafness. Design This study used a retrospective cohort study. Setting and Participants The participants included Nationwide Inpatient Sample, year 2017, hospitalized adults with and without diagnostic codes related to deafness and inability to speak. Method Multiple logistic and linear regression were used to compare in-hospital outcomes. Results Thirty million four hundred one thousand one hundred seventeen adults were hospitalized, and 7,180 had deafness and inability to speak related coding. Patients with deafness were older (mean age ± : 59.2 ± 0.51 vs. 57.9 ± 0.09 years, = .01), and less likely female (47.0% vs. 57.7%, < .01) compared to controls. Those with deafness had more comorbidities compared to the controls (Charlson comorbidity score ≥ 3: 31.2% vs. 27.8%, < .01). Mortality was higher among deaf versus controls (3.6% vs. 2.2%; < .01); this translated into higher adjusted odds of mortality (adjusted odds ratio = 1.7. [confidence interval (CI) 1.3-2.4]; = .01). Deaf patients had lower odds of being discharged home compared to controls {aOR} = 0.6, (CI) 0.55-0.73]; < .01. Length of stay was longer (adjusted mean difference = 1.5 days CI [0.7-2.3]; < .01) and hospital charges were higher, but not significantly so (adjusted mean difference = $4,193 CI [-$1,935-$10,322]; = .18) in patients with deafness. Conclusions Hospitalized nonspeaking deaf patients had higher mortality and longer hospital stays compared to those without this condition. These results suggest that specialized attention may be warranted when deaf patients are admitted to our hospitals in hopes of reducing disparities in outcomes. Supplemental Material https://doi.org/10.23641/asha.14336663.
Topics: Adult; Deafness; Female; Hospital Mortality; Hospitalization; Humans; Length of Stay; Retrospective Studies; United States
PubMed: 33823115
DOI: 10.1044/2021_AJA-20-00156 -
Journal of Deaf Studies and Deaf... May 2020We examined the language and reading progress of 336 young DHH children in kindergarten, first and second grades. Trained assessors tested children's language, reading,... (Review)
Review
We examined the language and reading progress of 336 young DHH children in kindergarten, first and second grades. Trained assessors tested children's language, reading, and spoken and fingerspelled phonological awareness in the fall and spring of the school year. Children were divided into groups based on their auditory access and classroom communication: a spoken-only group (n = 101), a sign-only group (n = 131), and a bimodal group (n = 104). Overall, children showed delays in language and reading compared to norms established for hearing children. For language, vocabulary standard scores were higher than for English syntax. Although delayed in language, children made expected gains based on hearing norms from kindergarten to second grade. Reading scores declined from kindergarten to second grade. Spoken-only and bimodal children had similar word reading and reading comprehension abilities and higher scores than sign-only children. Spoken-only children had better spoken phonological awareness and nonword reading skills than the other two groups. The sign-only and bimodal groups made similar and significant gains in ASL syntax and fingerspelling phonological awareness.
Topics: Child; Deafness; Hearing; Hearing Loss; Humans; Language Tests; Reading; Sign Language
PubMed: 32052022
DOI: 10.1093/deafed/enz050 -
Current Diabetes Reviews 2020Diabetes mellitus (DM) is a complex disease with significant impression in today's world. Aside from the most common types recognized over the years, such as type 1... (Review)
Review
BACKGROUND
Diabetes mellitus (DM) is a complex disease with significant impression in today's world. Aside from the most common types recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM), recent studies have emphasized the crucial role of genetics in DM, allowing the distinction of monogenic diabetes.
METHODS
Authors did a literature search with the purpose of highlighting and clarifying the subtypes of monogenic diabetes, as well as the accredited genetic entities responsible for such phenotypes.
RESULTS
The following subtypes were included in this literature review: maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus (NDM) and maternally inherited diabetes and deafness (MIDD). So far, 14 subtypes of MODY have been identified, while three subtypes have been identified in NDM - transient, permanent, and syndromic.
DISCUSSION
Despite being estimated to affect approximately 2% of all the T2DM patients in Europe, the exact prevalence of MODY is still unknown, accentuating the need for research focused on biomarkers. Consequently, due to its impact in the course of treatment, follow-up of associated complications, and genetic implications for siblings and offspring of affected individuals, it is imperative to diagnose the monogenic forms of DM accurately.
CONCLUSION
Currently, advances in the genetics field allowed the recognition of new DM subtypes, which until now, were considered slight variations of the typical forms. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations, to facilitate diagnosis and individualize treatment.
Topics: Deafness; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Genetic Testing; Genotype; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mitochondrial Diseases; Mutation; Phenotype; Precision Medicine; Syndrome
PubMed: 31886753
DOI: 10.2174/1573399816666191230114352 -
Clinical Medicine (London, England) Jul 2021One in five people in the UK are deaf, with hearing loss affecting more than 70% of people over the age of 70. Despite this being a higher prevalence than asthma, heart...
One in five people in the UK are deaf, with hearing loss affecting more than 70% of people over the age of 70. Despite this being a higher prevalence than asthma, heart disease or diabetes, deaf people experience persistent health inequalities with poorer experiences and outcomes in disease prevention and management. Clear communication and patient engagement with health are key to better outcomes. Nonetheless, there exist cultural, educational and organisational barriers when addressing communication with patients with hearing loss.Foundation doctors have regular and prolonged contact with their patients, and often feel underprepared when interacting with patients with hearing loss. This article aims to highlight these communication barriers and suggest changes for improvement.Improvement will require adaptations from both individual and organisational perspectives, with patient care as a clear focus for change.
Topics: Communication; Communication Barriers; Deafness; Delivery of Health Care; Hearing Loss; Humans
PubMed: 35192482
DOI: 10.7861/clinmed.2021-0111 -
Journal of Community Psychology Mar 2022Resilience is a dynamic, multidimensional complex concept that implies risk and protective factors, adaptation, and success. Communication and language are often... (Review)
Review
Resilience is a dynamic, multidimensional complex concept that implies risk and protective factors, adaptation, and success. Communication and language are often identified as barriers in deaf children's development. However, research linking deafness in childhood and resilience is scarce. The present comprehensive literature review aims to verify which are the predominant risk factors for this group, which protective factors may be identified and if significant differences have been found between deaf and hearing children regarding resilience. A systematic search, performed in seven databases, identified 11 articles published in peer-reviewed journals between 2000 and 2019 that met the criteria. Deaf children experience exposure to risk through obstacles in communication, language, and information failure. Consequently, differences between hearing and deaf children are related to more difficulties in emotion regulation and interpersonal relationships. Principal protective factors are a supportive family, school staff, and peers. Practical implications and recommendations for future research are provided.
Topics: Child; Communication; Deafness; Humans; Interpersonal Relations; Peer Group; Schools
PubMed: 34643946
DOI: 10.1002/jcop.22730 -
Harefuah Feb 2020Deafness is the most common sensory disability in humans affecting all aspects of life. Approximately 50% of congenital deafness is hereditary and about half of genetic... (Review)
Review
Deafness is the most common sensory disability in humans affecting all aspects of life. Approximately 50% of congenital deafness is hereditary and about half of genetic deafness is still unsolved. To date, more than 150 genes are known to cause hearing loss worldwide, with specific genes contributing to deafness in distinct populations. Of these, more than 20 genes are involved in deafness among the Jewish Israeli hearing-impaired population. The most common gene in many worldwide populations, including Israel, is GJB2, which encodes the connexin 26 protein. The second most common gene among Jews is TMC1, with most pathogenic variants found only among Jews of Moroccan origin. Most other pathogenic variants found in the Jewish population are origin-specific and not found in other Jewish ethnic groups or in other worldwide populations. In patients where hereditary deafness is suspected, known variants in the specific ethnicity are routinely examined. In Israel, the GJB2 gene is screened in all cases of hereditary deafness and the TMC1 gene is screened in deaf persons of Jewish Moroccan origin. In cases where no variant is found in a known gene, more comprehensive diagnostic tests should be used. Since the beginning of the deep sequencing era, less than a decade ago, the number of deafness-related genes in the Jewish population has increased by threefold. Identifying the pathogenic variant makes it possible to study molecular pathogenesis, to anticipate and understand the prognosis, to calculate probability of concomitant morbidity, to offer prenatal diagnosis, prevent recurrence of deafness in the family and early rehabilitation. Currently, cochlear implant offers the greatest chance for rehabilitation. The hope is that understanding the molecular pathogenesis will in the future lead to personalized medical treatment. We review the genetics of deafness, with an emphasis on the Jewish population in Israel, new diagnostic methods and suggest a diagnostic algorithm and future treatment methods.
Topics: Connexin 26; Deafness; Humans; Israel; Jews; Mutation
PubMed: 32048492
DOI: No ID Found -
EMBO Molecular Medicine Apr 2024Approximately half a billion people—5% of the world’s population—suffer from disabling hearing impairment (HI) according to the WHO...
Approximately half a billion people—5% of the world’s population—suffer from disabling hearing impairment (HI) according to the WHO (http://www.who.int/features/factfiles/deafness/en/). HI commonly hampers speech acquisition, leads to social isolation and increases risk for depression and cognitive decline. One to two per thousand children are born with disabling HI and over 50% of sensorineural HI is caused by defects in individual genes (deafness genes) of which roughly 150 have been identified so far (http://hereditaryhearingloss.org/). In case of profound hearing impairment or deafness, cochlear implants that bypass the dysfunctional or lost sensory hair cells and electrically stimulate the auditory nerve partially restore hearing. However, hearing with cochlear implants has shortcomings such as limited understanding of speech in background noise. So, there remains a major unmet medical need for improved hearing restoration (Wolf et al, 2022). Yet, despite major research efforts, a causal treatment based on pharmacology, gene therapy, or stem cells had, so far, not been clinically available. Now, this is finally changing at least for some patients: first in human trials prove the concept for inner ear gene therapy of otoferlin-related synaptic deafness.
Topics: Humans; Deafness; Genetic Therapy
PubMed: 38528140
DOI: 10.1038/s44321-024-00058-6 -
Matrix Biology : Journal of the... Jan 2024The extracellular matrix (ECM) consists in a complex meshwork of collagens, glycoproteins, and proteoglycans, which serves a scaffolding function and provides... (Review)
Review
The extracellular matrix (ECM) consists in a complex meshwork of collagens, glycoproteins, and proteoglycans, which serves a scaffolding function and provides viscoelastic properties to the tissues. ECM acts as a biomechanical support, and actively participates in cell signaling to induce tissular changes in response to environmental forces and soluble cues. Given the remarkable complexity of the inner ear architecture, its exquisite structure-function relationship, and the importance of vibration-induced stimulation of its sensory cells, ECM is instrumental to hearing. Many factors of the matrisome are involved in cochlea development, function and maintenance, as evidenced by the variety of ECM proteins associated with hereditary deafness. This review describes the structural and functional ECM components in the auditory organ and how they are modulated over time and following injury.
Topics: Humans; Hearing; Cochlea; Deafness; Extracellular Matrix; Extracellular Matrix Proteins
PubMed: 38070832
DOI: 10.1016/j.matbio.2023.12.002