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Handbook of Clinical Neurology 2015This chapter presents an overview of neurocognitive development in children with hearing loss across the spectrum of hearing disorders. It begins with information about... (Review)
Review
This chapter presents an overview of neurocognitive development in children with hearing loss across the spectrum of hearing disorders. It begins with information about the characteristics of pediatric hearing loss and its consequences in terms of neurophysiologic effects on the developing auditory system and functional effects on spoken language acquisition. The importance of early learning experiences on the developing brain is elaborated and the role of parents is discussed. The chapter briefly describes recent advances in early hearing loss identification and intervention, including the impact of cochlear implant technology, and discusses how these have substantially changed and continue to change developmental outcomes for children with hearing loss. Multiple factors that affect early and later development are outlined. Findings from current literature that provide useful information on developmental outcomes in children with hearing loss of all levels of severity are presented. The chapter also considers information that has accumulated about cognitive processes, particularly related to speech and language acquisition in children with hearing loss.
Topics: Child; Cognition Disorders; Deafness; Developmental Disabilities; Humans; Language Development Disorders
PubMed: 25726278
DOI: 10.1016/B978-0-444-62630-1.00019-6 -
Presse Medicale (Paris, France : 1983) Nov 2017Deafness is the most common sensory disability in developed countries affecting more than 2 births in 1000. Eighty percent of congenital deafness is genetic. Universal...
Deafness is the most common sensory disability in developed countries affecting more than 2 births in 1000. Eighty percent of congenital deafness is genetic. Universal newborn hearing screening has been in place since 2012 in France. All genetic hearing losses are not congenital and all congenital hearing losses are not genetic. Genetic hearing loss may be syndromic (associated with other symptoms) (10 %) or non-syndromic (isolated) (90 %). Hearing loss may initially be the only symptom of syndromic deafness. A genetic origin can be diagnosed and must therefore be evoked systematically even in the adult.
Topics: Deafness; Humans
PubMed: 29089220
DOI: 10.1016/j.lpm.2017.09.005 -
Hearing Research Jan 2017
Topics: Animals; Auditory Pathways; Auditory Perception; Deafness; Hearing; Hearing Loss; Humans; Neuronal Plasticity
PubMed: 27771426
DOI: 10.1016/j.heares.2016.10.014 -
Yi Chuan = Hereditas Jan 2023Hereditary deafness is one of the most common sensory disorders in humans, and exhibits high genetic heterogeneity. At present, the commonly used molecular diagnostic... (Review)
Review
Hereditary deafness is one of the most common sensory disorders in humans, and exhibits high genetic heterogeneity. At present, the commonly used molecular diagnostic methods include gene chip, Sanger sequencing, targeted enrichment sequencing, and whole-exome sequencing, with diagnosis rates reaching 33.5%-56.67%. However, there are still a considerable number of patients who can not get a timely and definitive molecular diagnosis. Furthermore, considering the economic burden on patients' families and the relatively high cost of whole-exome or whole-genome sequencing, it is vital to provide stepwise strategies combining multiple detection methods according to the phenotypes of patients. In this review, we evaluate and discuss the utility of molecular diagnosis and the application of stepwise testing strategies in hereditary deafness to provide reference for the selection of diagnostic strategies.
Topics: Humans; Deafness; Whole Genome Sequencing; Exome; Phenotype; High-Throughput Nucleotide Sequencing; Pedigree; Genetic Testing; Mutation
PubMed: 36927636
DOI: 10.16288/j.yczz.22-206 -
Canadian Family Physician Medecin de... Oct 2022A young infant seen in our practice was diagnosed with profound congenital hearing loss. Their parents want to pursue cochlear implant surgery for their child, but they...
QUESTION
A young infant seen in our practice was diagnosed with profound congenital hearing loss. Their parents want to pursue cochlear implant surgery for their child, but they are concerned about language acquisition before and after the surgery. What should they know about the procedure, and how can they improve language outcomes?
ANSWER
Congenital hearing loss is often identified on newborn screening hearing tests. Cochlear implants may lead to overall improved spoken language skills among children with profound hearing loss. Some factors associated with successful language acquisition in children after cochlear implant surgery include having the procedure at an earlier age and family engagement in early intervention programs. Learning sign language before cochlear implant surgery may improve subsequent language outcomes and support the child's cognitive and socioemotional success.
Topics: Child; Cochlear Implantation; Cochlear Implants; Deafness; Hearing Aids; Humans; Infant; Infant, Newborn; Language Development
PubMed: 36241402
DOI: 10.46747/cfp.6810737 -
American Annals of the Deaf 2023
Topics: Humans; Multilingualism; Education of Hearing Disabled; Deafness; Persons With Hearing Impairments; Sign Language; Child; Learning
PubMed: 38661778
DOI: 10.1353/aad.2023.0006 -
Otolaryngology--head and Neck Surgery :... Jul 2017Objective To systematically review and quantify current evidence regarding the association of GJB2 mutation status with outcomes of pediatric cochlear implantation. Data... (Review)
Review
Objective To systematically review and quantify current evidence regarding the association of GJB2 mutation status with outcomes of pediatric cochlear implantation. Data Sources PubMed, Embase, and the Cochrane Library were searched for "GJB2,""pediatric hearing loss," and "cochlear implantation" and their synonyms, with no language restrictions, until December 2, 2015. Review Methods Studies were included that investigated the status of GJB2 mutation and its predictive value for outcomes of pediatric cochlear implantation. Speech recognition scores, Infant-Toddler Meaningful Auditory Integration Scale, Speech Intelligibility Rating, and Categorized Auditory Performance were pooled using weighted mean differences, and a 95% confidence interval. Results Eighteen studies met the inclusion criteria. The differences between GJB2-related deafness and non- GJB2-related deafness due to unidentified causes and other types of genetic deafness without additional disabilities were not statistically significant ( P = .15 and P = .30, respectively); however, the difference between GJB2-related deafness and acquired hearing loss due to environmental etiologies was statistically significant and favored GJB2-related deafness ( P = .03). Conclusion GJB2-related deafness leads to significantly better cochlear implantation outcomes when compared with acquired deafness caused by environmental etiologies. However, GJB2 mutation is not associated with a significantly better prognosis when compared with those whose deafness results from either nonsyndromic hearing loss of unknown origin or other types of genetic mutations in the absence of other neurologic deficits.
Topics: Cochlear Implantation; Connexin 26; Connexins; Deafness; Humans; Mutation
PubMed: 28322114
DOI: 10.1177/0194599817697054 -
American Annals of the Deaf 2023During the COVID-19 pandemic, many children experienced multiple challenges while transitioning from traditional to online schooling. Teachers, administrators, and...
During the COVID-19 pandemic, many children experienced multiple challenges while transitioning from traditional to online schooling. Teachers, administrators, and parents were expected to work together to provide students an optimal educational experience through those turbulent times. This experience generated new insights into how to teach deaf and hard of hearing (DHH) students and assess their knowledge. New tools were invented and used during the pandemic, and though teachers and students are slowly returning to traditional learning environments, educators now know that alternative forms of teaching and learning exist. We acknowledge the ways teachers, administrators, and parents can innovate and bring new knowledge to the table. The present article introduces an American Annals of the Deaf Special Issue that offers further research and discussion in the event that another, comparable challenge occurs. Multiple issues must be considered in DHH education, from academic rigor to social-emotional wellness.
Topics: Child; Humans; Education, Special; Pandemics; Deafness; Education of Hearing Disabled; Curriculum
PubMed: 38588106
DOI: 10.1353/aad.2023.a917253 -
Cell Calcium Mar 2023Deafness is a highly heterogeneous disorder which stems, for 50%, from genetic origins. Sensory transduction relies mainly on sensory hair cells of the cochlea, in the... (Review)
Review
Deafness is a highly heterogeneous disorder which stems, for 50%, from genetic origins. Sensory transduction relies mainly on sensory hair cells of the cochlea, in the inner ear. Calcium is key for the function of these cells and acts as a fundamental signal transduction. Its homeostasis depends on three factors: the calcium influx, through the mechanotransduction channel at the apical pole of the hair cell as well as the voltage-gated calcium channel at the base of the cells; the calcium buffering via Ca-binding proteins in the cytoplasm, but also in organelles such as mitochondria and the reticulum endoplasmic mitochondria-associated membranes with specialized proteins; and the calcium extrusion through the Ca-ATPase pump, located all over the plasma membrane. In addition, the synaptic transmission to the central nervous system is also controlled by calcium. Genetic studies of inherited deafness have tremendously helped understand the underlying molecular pathways of calcium signaling. In this review, we discuss these different factors in light of the associated genetic diseases (syndromic and non-syndromic deafness) and the causative genes.
Topics: Humans; Calcium Signaling; Mechanotransduction, Cellular; Calcium; Rare Diseases; Deafness
PubMed: 36791536
DOI: 10.1016/j.ceca.2023.102702 -
JAMA Otolaryngology-- Head & Neck... Jul 2020
Topics: Age Factors; Audiometry, Pure-Tone; Cochlear Implants; Deafness; Humans; Patient Selection; Speech Perception; Time-to-Treatment
PubMed: 32407470
DOI: 10.1001/jamaoto.2020.0678