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Acta Oto-laryngologica Sep 2015The mutation c.508_511dup in GJB2 gene has been incorrectly named as other mutations. It is essential to standardize mutation nomenclature to describe complex mutations. (Review)
Review
CONCLUSIONS
The mutation c.508_511dup in GJB2 gene has been incorrectly named as other mutations. It is essential to standardize mutation nomenclature to describe complex mutations.
OBJECTIVES
This paper aimed to verify a series of patients with the frame-shift mutation c.508_511dup in the GJB2 gene and review the literature on related mutations.
METHODS
All the included patients with non-syndromic hearing loss (NSHL) carried the 504insAACG or c.508_511dup mutation of the GJB2 gene in the present study. Their parents were encouraged to participate. After written informed consent and clinic data had been obtained, genomic DNA was extracted from venous blood of participants. The target fragments were amplified by polymerase chain reaction (PCR) and subjected to bidirectional sequencing to identify sequence variations.
RESULTS
A total of 14 patients with prelingual NSHL and 6 normal parents were recruited. Genotyping revealed that one mutation, c.508_511dup (not 504insAACG), was homozygous in 1 patient, heterozygous in 2 patients and 3 parents, and compound heterozygous in 11 patients. Twelve patients had hearing loss caused by c.508_511dup in a homozygous or compound heterozygous form, and further study showed that it was wrongly named as 504insAACG. Additionally, according to the standard nomenclature, the previously reported mutations with distinct names from the literature review may be replaced by c.508_511dup.
Topics: Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Connexin 26; Connexins; Deafness; Female; Genotype; Humans; Male; Mutation; Polymerase Chain Reaction; Terminology as Topic; Young Adult
PubMed: 25891447
DOI: 10.3109/00016489.2015.1035796 -
Laryngo- Rhino- Otologie May 2022Cochlear implant today are an essential method of auditory rehabilitation in patients with severe to profound hearing loss. Due to the rapid development of implant...
Cochlear implant today are an essential method of auditory rehabilitation in patients with severe to profound hearing loss. Due to the rapid development of implant technology the results have been markedly improved. Today about 80 % of patients can use the telephone and children achieve near to normal hearing and speech development. In consequence, more patients are candidates for a cochlear implant today including those with high frequency deafness and single sided deafness. However, today only 60,000 out of 1 Million CI-candidates in Germany have been implanted so far. In future multi modal universal auditory implants will provide combined electric-mechanical stimulation to make best use of the residual auditory hearing and the electrical stimulation of the auditory nerve. They allow a continuous adaptation of the stimulation strategy onto the given functional status of haircells and auditory nerve fibers especially in cases of progressive hearing loss. Brain computer interfaces will allow the automated fitting and adaptation to the acoustic scene by optimizing the signal processing for best possible auditory performance. Binaural hearing systems will improve directional hearing and speech perception in noise. Advanced implants are composed of individualized electrodes by additive manufacturing which can be inserted atraumaticly by a computer and robot assisted surgery. After insertion they automatically adept to the anatomy of the individual cochlear. These advanced implants are composed with additional integrated biological components for the preservation of residual hearing and regeneration of neural elements to improve the electrode nerve interface. This will allow to increase the number of electrical contacts as a major step towards the bionic ear. This will allow overcoming the principal limits of today's cochlear implant technology. Advanced care models will allow an easy way for the patient towards hearing preservation cochlear implantation under local anesthesia using minimal invasive high precision cochlear implant surgery. These implant systems will become a personal communicator with improved connectivity. Remote care and self-fitting will empower the patient to optimize his own hearing.
Topics: Child; Cochlear Implantation; Cochlear Implants; Deafness; Hearing Loss, High-Frequency; Humans; Quality of Life; Speech Perception
PubMed: 35605612
DOI: 10.1055/a-1731-9321 -
The Annals of Otology, Rhinology, and... Aug 2020Too little is known about hearing loss rehabilitation in patients with Alström syndrome (AS). Benefits of hearing aids (HA) have not been fully documented and only one...
OBJECTIVES
Too little is known about hearing loss rehabilitation in patients with Alström syndrome (AS). Benefits of hearing aids (HA) have not been fully documented and only one case treated with a Cochlear Implant (CI) has been described in the proceedings of a conference. Furthermore, comorbidities and risk of complications following surgical intervention may contraindicate Cochlear Implant procedures in these patients.The present case report concerns the first AS patient with CI in the literature.
METHODS
After reporting a concise description of the audiological profile of patients with AS described in the literature, the case of a 22-year-old woman with genetically confirmed Alström syndrome who underwent a sequential bilateral CI (Bi-CI) rehabilitation is reported. Audiological results before and after cochlear implantation are described.
RESULTS
The patient showed an excellent functional outcome with CIs, which enabled her to achieve communicative, social and academic results comparable with her peers, and no complications occurred.
CONCLUSIONS
AS is not necessarily an absolute contraindication to CI. For many AS patients, a good cognitive function and adequate life expectancy represent a clear indication to prompt and adequate hearing rehabilitation with CIs. The description of this type of clinical cases could in the future also generate indications for a tailored audiological treatment of patients with very specific needs, such as patients with Alström Syndrome.
Topics: Alstrom Syndrome; Audiometry; Cochlear Implants; Deafness; Female; Humans; Speech Perception; Young Adult
PubMed: 32019320
DOI: 10.1177/0003489420903061 -
Cochlear Implants International Jul 2018To understand the family's experience of a child who uses a cochlear implant (CI). Specifically, to identify the difficulties, changes, and feelings entailed by deafness...
OBJECTIVE
To understand the family's experience of a child who uses a cochlear implant (CI). Specifically, to identify the difficulties, changes, and feelings entailed by deafness and the use of the CI; the coping strategies; and to understand the role of the family for the child with a CI.
METHOD
Qualitative research, using Symbolic Interactionism and Straussian Grounded Theory as the theoretical and methodological frameworks, respectively. Data collection instrument: semi-structured interview. A total of 9 families (32 individuals) participated in the study. The children's ages ranged from 6 to 11 years old (mean = 8.9 years old).
RESULTS
Their experience is described in the following categories: Having to fight for results, Coping with difficult situations, Recognizing that you are not alone, Learning to overcome, and Having one's life restored by the implant.
CONCLUSION
Cochlear implantation changes the direction of the child and the family's life by restoring the child's opportunity to hear and to obtain good results in her personal, social, and academic development. Even after implantation, the child continues to experience difficulties and requires the family's mobilization in order to be successful. The family is the principal actor in the process of the child's rehabilitation.
Topics: Adaptation, Psychological; Child; Cochlear Implantation; Cochlear Implants; Deafness; Family; Female; Humans; Male; Qualitative Research
PubMed: 29363411
DOI: 10.1080/14670100.2018.1426406 -
American Annals of the Deaf 2016The author examines the theory and research relevant to educating d/Deaf and Hard of Hearing Multilingual Learners (DMLs). There is minimal research on this population,... (Review)
Review
The author examines the theory and research relevant to educating d/Deaf and Hard of Hearing Multilingual Learners (DMLs). There is minimal research on this population, yet a synthesis of related theory, research, and practice on spoken-language bilinguals can be used to add to the body of knowledge on these learners. Specifically, the author reports on three major areas: (a) population characteristics of DMLs, (b) theories relevant to understanding the language development of DMLs, and (c) considerations for programs in designing and implementing educational services for DMLs. In the interest of ensuring that children receive the foundation for linguistic success, aspects of linguistically responsive teaching (Lucas & Villegas, 2013) are addressed, with a focus on adopting an asset-based perspective on educating DMLs that honors all of a child's language, identity, and cultural memberships.
Topics: Age Factors; Child; Child Language; Communication; Cultural Diversity; Curriculum; Deafness; Education of Hearing Disabled; Family Relations; Humans; Learning; Mainstreaming, Education; Multilingualism; Persons With Hearing Impairments; Sign Language; Teaching; Terminology as Topic; United States
PubMed: 27156915
DOI: 10.1353/aad.2016.0017 -
Molecular Therapy : the Journal of the... Apr 2024
Topics: Child; Humans; Hearing; Deafness; Genetic Therapy
PubMed: 38522426
DOI: 10.1016/j.ymthe.2024.03.020 -
Medical Anthropology Apr 2021Diagnosing deafness is a culturally situated practice generating considerable research in health sciences but limited work in anthropology. Diagnosis fast-tracks parents...
Diagnosing deafness is a culturally situated practice generating considerable research in health sciences but limited work in anthropology. Diagnosis fast-tracks parents into a medical and education pathway but can also create tension for parents and professionals. Drawing on ethnographic fieldwork, we argue that in this biomedical context, emotions are often understood by professionals as impairing for parents, and hence problematic for the treatment process. In contrast emotions are characterized by parents as motivational and tools for decision making on a pathway that is experienced as a source of stress.
Topics: Adult; Anthropology, Medical; Australia; Child; Deafness; Emotions; Female; Humans; Male; Middle Aged; Motivation; Parents
PubMed: 32735137
DOI: 10.1080/01459740.2020.1796659 -
Hearing Research Jan 2017While many individuals can benefit substantially from cochlear implantation, the ability to perceive and understand auditory speech with a cochlear implant (CI) remains... (Review)
Review
While many individuals can benefit substantially from cochlear implantation, the ability to perceive and understand auditory speech with a cochlear implant (CI) remains highly variable amongst adult recipients. Importantly, auditory performance with a CI cannot be reliably predicted based solely on routinely obtained information regarding clinical characteristics of the CI candidate. This review argues that central factors, notably cortical function and plasticity, should also be considered as important contributors to the observed individual variability in CI outcome. Superior temporal cortex (STC), including auditory association areas, plays a crucial role in the processing of auditory and visual speech information. The current review considers evidence of cortical plasticity within bilateral STC, and how these effects may explain variability in CI outcome. Furthermore, evidence of audio-visual interactions in temporal and occipital cortices is examined, and relation to CI outcome is discussed. To date, longitudinal examination of changes in cortical function and plasticity over the period of rehabilitation with a CI has been restricted by methodological challenges. The application of functional near-infrared spectroscopy (fNIRS) in studying cortical function in CI users is becoming increasingly recognised as a potential solution to these problems. Here we suggest that fNIRS offers a powerful neuroimaging tool to elucidate the relationship between audio-visual interactions, cortical plasticity during deafness and following cochlear implantation, and individual variability in auditory performance with a CI.
Topics: Acoustic Stimulation; Adaptation, Physiological; Adaptation, Psychological; Animals; Cochlear Implantation; Cochlear Implants; Comprehension; Cues; Deafness; Electric Stimulation; Hearing; Humans; Neuroimaging; Neuronal Plasticity; Persons With Hearing Impairments; Photic Stimulation; Spectroscopy, Near-Infrared; Speech Intelligibility; Speech Perception; Temporal Lobe; Visual Perception
PubMed: 27473501
DOI: 10.1016/j.heares.2016.07.013 -
Scientific Reports Jan 2024This study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis...
This study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis for deafness prevention and control. A total of 10,183 neonates were recruited between January 2018 and December 2022 at Yuebei People's Hospital. Among these, a PCR hybridization screening group of 8276 neonates was tested for four deafness genes: GJB2, SLC26A4, mtDNA, and GJB3 by PCR hybridization. Another group used next-generation sequencing (NGS) to detect genetic susceptibility genes in 1907 neonates. In PCR hybridization screening group, 346 (4.18%) of 8276 neonates were found to be carriers of the deafness gene. Among these, 182 (2.2%) had GJB2 variants, 114 (1.38%) had SLC26A4 variants, 35 (0.42%) had mtDNA variants, and 15 (0.18%) had GJB3 variants. In NGS Screening Group, 195 out of 1907 neonates were found to be carriers of the deafness gene, with a positive rate of 10.22%. Among these, 137 (7.18%) had GJB2 variants, 41 (2.15%) had SLC26A4 variants, 11 (0.58%) had mtDNA variants, and 6 (0.31%) had GJB3 variants. The prevalence of deafness gene variants was high in Northern Guangdong Province. The most common gene for deafness was GJB2, followed by SLC26A4 and mtDNA. GJB3 variants are rare. Compared with PCR hybridization method, NGS technology can expand the screening scope and greatly improve the detection rate of deafness genes. The c.109G>A of GJB2 was found to occur at a high frequency, which should be considered. Therefore, it is important to conduct neonatal deafness gene screening to prevent and control hereditary deafness.
Topics: Infant, Newborn; Humans; Connexins; Connexin 26; Mutation; DNA Mutational Analysis; Deafness; DNA, Mitochondrial; China
PubMed: 38172182
DOI: 10.1038/s41598-023-49530-2 -
Early Intervention: A Multicultural Perspective on d/Deaf and Hard of Hearing Multilingual Learners.American Annals of the Deaf 2016Today's pluralistic society is characterized by families from many linguistic and cultural backgrounds, including families with infants and toddlers who are deaf or hard... (Review)
Review
Today's pluralistic society is characterized by families from many linguistic and cultural backgrounds, including families with infants and toddlers who are deaf or hard of hearing (d/Dhh). Taking a multicultural perspective, the author examines family-centered early intervention (FCEI) and the transition to school services for children who are d/Dhh. Working with d/Dhh Multilingual Learners (DMLs) and their families presents a unique challenge to early intervention professionals: ensuring that families have adequate information and resources to make informed choices, particularly regarding communication. The author presents information and research related to (a) family and professional partnerships, (b) cultural contexts for early intervention,
Topics: Child; Child, Preschool; Cultural Diversity; Curriculum; Deafness; Early Intervention, Educational; Education of Hearing Disabled; Family Relations; Humans; Learning; Multilingualism; Persons With Hearing Impairments; Sign Language; Teaching; Terminology as Topic
PubMed: 27156916
DOI: 10.1353/aad.2016.0009