The Experts below are selected from a list of 324 Experts worldwide ranked by ideXlab platform

Cumali Gokce - One of the best experts on this subject based on the ideXlab platform.

  • A Novel Mutation of SCL26A4 Gene in Turkish Family with Pendred Syndrome Pendred Sendromlu Türk Ailede SCL26A4 Geninde Yeni Mutasyon
    2020
    Co-Authors: Özgün Makale, Ozgur Aldemir, Kadri Karaer, Cengiz Cevik, Haldun Dogan, Cumali Gokce
    Abstract:

    Aim: This study aimed to investigate the molecular testing of Congenital Hearing Loss by using next generation sequencing technology. Pendred syndrome (PS) is described by severe bilateral sensorineural Hearing Loss with goiter. The mutations of SCL26A4 gene can cause PS. Material and Method: We evaluated the feasibility of targetenrichment and massive parallel sequencing technologies to interrogate all mutations of genes (GJB2, GJB3, GJB6, SLC26A4 and for the mitochondrial mutation A1555G) implicated in NSHL, we performed molecular analyses of 14 NSHL families and patients by using Miseq system (Illumina Inc.). Next-Generation sequencing (NGS) technologies provide specificity, sensitivity and reproducibility at levels sufficient to perform genetic diagnosis of Hearing Loss. Results: We found two different mutations in SCL26A4 gene such as F354S and I588T in both consanguineous families as diagnosed with Pendred syndrome and we reported a novel mutation in SCL26A4 gene. We found no mutation in GJB2, GJB3, GJB6 gene and A1555G mtDNA in this study. Conclusion: These results highlight the benefits using targeted gene panels with NGS technologies in the molecular analysis of nonsyndromic, Congenital Hearing Loss patients. This study assessed the frequency of deafness genes in Turkish children with Congenital Hearing Loss who had been treated with cochlear implantation, and we found a novel mutation (I588T) in SLC26A4 gene.

  • Pendred Sendromlu Türk Ailede SCL26A4 Geninde Yeni Mutasyon
    Mustafa Kemal Üniversitesi Tıp Dergisi, 2015
    Co-Authors: Ozgur Aldemir, Kadri Karaer, Cengiz Cevik, Haldun Dogan, Cumali Gokce
    Abstract:

    Aim: This study aimed to investigate the molecular testing of Congenital Hearing Loss by using next generation sequencing technology. Pendred syndrome (PS) is described by severe bilateral sensorineural Hearing Loss with goiter. The mutations of SCL26A4 gene can cause PS. Material and Method: We evaluated the feasibility of target-enrichment and massive parallel sequencing technologies to interrogate all mutations of genes (GJB2, GJB3, GJB6, SLC26A4 and for the mitochondrial mutation A1555G) implicated in NSHL, we performed molecular analyses of 14 NSHL families and patients by using Miseq system (Illumina Inc.). Next-Generation sequencing (NGS) technologies provide specificity, sensitivity and reproducibility at levels sufficient to perform genetic diagnosis of Hearing Loss. Results: We found two different mutations in SCL26A4 gene such as F354S and I588T in both consanguineous families as diagnosed with Pendred syndrome and we reported a novel mutation in SCL26A4 gene. We found no mutation in GJB2, GJB3, GJB6 gene and A1555G mtDNA in this study. Conclusion: These results highlight the benefits using targeted gene panels with NGS technologies in the molecular analysis of nonsyndromic, Congenital Hearing Loss patients. This study assessed the frequency of deafness genes in Turkish children with Congenital Hearing Loss who had been treated with cochlear implantation, and we found a novel mutation (I588T) in SLC26A4 gene. Key Words: Pendred syndrome, Congenital Hearing Loss, Next-Generation sequencing

John C. Carey - One of the best experts on this subject based on the ideXlab platform.

  • Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss
    Genetics in Medicine, 2020
    Co-Authors: Walter E. Nance, Kathleen S. Arnos, John C. Carey, George C. Cunningham, Rena E. Falk, Terese Finitzo, Dynio Honrubia, Bronya J.b. Keats, William J. Kimberling
    Abstract:

    The advent of Hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with Hearing Loss. A significant proportion of those with Congenital Hearing Loss have genetic etiologies underlying their Hearing Loss. To ensure that those identified with Congenital Hearing Loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of Congenital Hearing Loss. After a brief overview of the current knowledge of Hearing Loss, newborn screening, and newborn Hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed.

  • methodology of a multistate study of Congenital Hearing Loss preliminary data from utah newborn screening
    American Journal of Medical Genetics Part C-seminars in Medical Genetics, 2004
    Co-Authors: Karin M Dent, Aileen Kenneson, Janice C Palumbos, Stacy Maxwell, John Eichwald, Karl R White, James F Bale, John C. Carey
    Abstract:

    A multistate Centers for Disease Control and Prevention (CDC) study was designed to investigate the etiology of Congenital Hearing Loss in infants ascertained through state-mandated Hearing screening or early Hearing Loss detection and intervention (EHDI) programs. At least 50% of permanent childhood-onset Hearing Loss is due to genetic causes, and approximately 20% of all infants with Congenital Hearing Loss have mutations in the GJB2 gene. Another 1% of childhood Hearing Loss is due to mitochondrial DNA (mtDNA) mutations. The specific aims of this study are to 1) classify the etiology of Congenital Hearing Loss in infants by doing prospective genetic evaluations of all newborns with permanent Hearing Loss from defined geographic areas, 2) determine the frequency of mutations in GJB2 and two common mitochondrial mutations in these populations, and 3) establish a model infrastructure linking genetic services to statewide EHDI programs. As of April 2003, Utah is the only center evaluating patients. Study subjects identified through the Utah Department of Health EHDI program are contacted by letter and offered a comprehensive medical genetics evaluation with DNA testing for GJB2 and mitochondrial mutations A1555G and A7445G. To date, 25 probands and their immediate family members have been evaluated. We have identified 20 cases with nonsyndromic Hearing Loss (7 multiplex and 13 simplex), 4 with syndromic Hearing Loss, and 1 with presumed cytomegalovirus (CMV)-induced Hearing Loss. Six of 19 (32%) nonsyndromic cases with sensorineural Hearing Loss have mutations of one or both alleles of the GJB2 gene, and 21% are homozygous or compound heterozygotes for the 35delG mutation. No A1555G or A7445G mtDNA mutations have been found. Data reported to date include only children born in Utah, but EHDI programs in Hawaii, Rhode Island, and designated areas of Georgia have begun enrolling children in what is now a multistate collaborative study. This is the first comprehensive investigation to determine the etiology of Hearing Loss from populations ascertained through EHDI programs. The results of this study will facilitate the incorporation of genetic services into EHDI programs. © 2004 Wiley-Liss, Inc.

  • Methodology of a multistate study of Congenital Hearing Loss: preliminary data from Utah newborn screening.
    American journal of medical genetics. Part C Seminars in medical genetics, 2004
    Co-Authors: Karin M Dent, Aileen Kenneson, Janice C Palumbos, Stacy Maxwell, John Eichwald, James F Bale, Karl White, John C. Carey
    Abstract:

    A multistate Centers for Disease Control and Prevention (CDC) study was designed to investigate the etiology of Congenital Hearing Loss in infants ascertained through state-mandated Hearing screening or early Hearing Loss detection and intervention (EHDI) programs. At least 50% of permanent childhood-onset Hearing Loss is due to genetic causes, and approximately 20% of all infants with Congenital Hearing Loss have mutations in the GJB2 gene. Another 1% of childhood Hearing Loss is due to mitochondrial DNA (mtDNA) mutations. The specific aims of this study are to 1) classify the etiology of Congenital Hearing Loss in infants by doing prospective genetic evaluations of all newborns with permanent Hearing Loss from defined geographic areas, 2) determine the frequency of mutations in GJB2 and two common mitochondrial mutations in these populations, and 3) establish a model infrastructure linking genetic services to statewide EHDI programs. As of April 2003, Utah is the only center evaluating patients. Study subjects identified through the Utah Department of Health EHDI program are contacted by letter and offered a comprehensive medical genetics evaluation with DNA testing for GJB2 and mitochondrial mutations A1555G and A7445G. To date, 25 probands and their immediate family members have been evaluated. We have identified 20 cases with nonsyndromic Hearing Loss (7 multiplex and 13 simplex), 4 with syndromic Hearing Loss, and 1 with presumed cytomegalovirus (CMV)-induced Hearing Loss. Six of 19 (32%) nonsyndromic cases with sensorineural Hearing Loss have mutations of one or both alleles of the GJB2 gene, and 21% are homozygous or compound heterozygotes for the 35delG mutation. No A1555G or A7445G mtDNA mutations have been found. Data reported to date include only children born in Utah, but EHDI programs in Hawaii, Rhode Island, and designated areas of Georgia have begun enrolling children in what is now a multistate collaborative study. This is the first comprehensive investigation to determine the etiology of Hearing Loss from populations ascertained through EHDI programs. The results of this study will facilitate the incorporation of genetic services into EHDI programs.

An N. Boudewyns - One of the best experts on this subject based on the ideXlab platform.

  • unilateral Congenital Hearing Loss in children challenges and potentials
    Hearing Research, 2018
    Co-Authors: Astrid Van Wieringen, An N. Boudewyns, Anouk Sangen, Jan Wouters, Christian Desloovere
    Abstract:

    Abstract The estimated incidence of sensorineural Hearing impairment (>40 dB HL) at birth is 1.86 per 1000 newborns in developed countries and 30–40% of these are unilateral. Profound sensorineural unilateral Hearing impairment or single sided deafness (SSD) can be treated with a cochlear implant. However, this treatment is costly and invasive and unnecessary in the eyes of many. Very young children with SSD often do not exhibit language and cognitive delays and it is hard to imagine that neurocognitive skills will present difficulties with one good ear. In the current paper we review the most recent evidence on the consequences of unilateral Hearing impairment for auditory and neurocognitive factors. While data of both adults and children are discussed, we focus on developmental factors, Congenital deafness and a window of opportunity for intervention. We discuss which etiologies qualify for a cochlear implant and present our multi-center prospective study on cochlear implants in infants with one deaf ear. The large, state-of-the art body of research allows for evidence-based decisions regarding management of unilateral Hearing Loss in children.

  • Congenital Hearing Loss
    Nature Reviews Disease Primers, 2017
    Co-Authors: Anna M. H. Korver, Richard J. H. Smith, Guy Van Camp, Mark R. Schleiss, Maria A. K. Bitner-glindzicz, Lawrence R. Lustig, Shin-ichi Usami, An N. Boudewyns
    Abstract:

    Viral infections during pregnancy and acquired genetic mutations account for the majority of cases of Congenital Hearing Loss. Early detection of this chronic condition, through neonatal Hearing screening programmes, greatly benefits the cognitive and social development of the child. Congenital Hearing Loss (Hearing Loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal Hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of Hearing Loss is usually followed by a search for an underlying aetiology. Congenital Hearing Loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; Congenital infections, particularly cytomegalovirus infection, are also a common risk factor for Hearing Loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the Hearing pathway, in particular, inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (the conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of Hearing Loss is established, it might direct therapeutic decision making and guide prevention and (genetic) counselling. Management options include specific antimicrobial therapies, surgical treatment of craniofacial abnormalities and implantable or non-implantable Hearing devices. An improved understanding of the pathophysiology and molecular mechanisms that underlie Hearing Loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.

Melissa Wake - One of the best experts on this subject based on the ideXlab platform.

  • health related quality of life in children with low language or Congenital Hearing Loss as measured by the pedsql and health utility index mark 3
    Value in Health, 2020
    Co-Authors: Ha N D Le, Melissa Wake, Solveig Petersen, Fiona Mensah, Lisa Gold, Sheena Reilly
    Abstract:

    Abstract Objectives To examine health-related quality of life (HRQoL) in young children with low language or Congenital Hearing Loss and to explore the value of assessing HRQoL by concurrently administering 2 HRQoL instruments in populations of children. Methods Data were from 2 Australian community-based studies: Language for Learning (children with typical and low language at age 4 years, n = 1012) and the Statewide Comparison of Outcomes study (children with Hearing Loss, n = 108). HRQoL was measured using the parent-reported Health Utilities Index Mark 3 (HUI3) and the Pediatrics Quality of Life Inventory 4.0 (PedsQL) generic core scale. Agreement between the HRQoL instruments was assessed using intraclass correlation and Bland-Altman plots. Results Children with low language and with Hearing Loss had lower HRQoL than children with normal language; the worst HRQoL was experienced by children with both. The lower HRQoL was mainly due to impaired school functioning (PedsQL) and speech and cognition (HUI3). Children with Hearing Loss also had impaired physical and social functioning (PedsQL), vision, Hearing, dexterity, and ambulation (HUI3). Correlations between instruments were poor to moderate, with low agreement. Conclusions Children with low language and Congenital Hearing Loss might benefit from interventions targeting overall health and well-being, not just their impairments. The HUI3 and PedsQL each seemed to provide unique information and thus may supplement each other in assessing HRQoL of young children, including those with low language or Congenital Hearing Loss.

  • A protocol for whole-exome sequencing in newborns with Congenital deafness: a prospective population-based cohort
    BMJ paediatrics open, 2017
    Co-Authors: Lilian Downie, Zeffie Poulakis, Jane Halliday, Rachel A. Burt, Sebastian Lunke, Elly Lynch, Melissa Martyn, Clara Gaff, Valerie Sung, Melissa Wake
    Abstract:

    Introduction The aetiology of Congenital Hearing Loss is heterogeneous, and in many infants a genetic cause is suspected. Parents face a diagnostic odyssey when searching for a cause of their infant’s Hearing Loss. Through the Melbourne Genomics Health Alliance, a prospective cohort of infants will be offered whole-exome sequencing (WES) with targeted analysis in conjunction with chromosome microarray to determine the genetic causes of Congenital Hearing Loss. Parents will also be offered the opportunity to receive additional results from their infant’s WES. Methods Eligible infants will be identified through the Victorian Infant Hearing Screening Program and offered an appointment in a paediatrician-run clinic, a genetics assessment and enrolment in the Victorian Childhood Hearing Impairment Longitudinal Databank. If parents consent to WES, genes causing deafness will be analysed and they can choose to obtain additional findings. For the additional results component, a modified laboratory protocol has been designed for reporting of results in the absence of a relevant phenotype. Parents’ experience of being offered WES will be evaluated using surveys. Discussion This project will provide descriptive analysis of the genetic aetiology of Congenital Hearing Loss in this cohort and may provide data on genotype–phenotype correlations. Additionally, choices regarding additional findings will be analysed. Participants will represent a diverse cross section of the population, increasing the ability to generalise results beyond the study group. Evaluation surveys will allow analysis of preferences around counselling, usefulness of a decision aid and adequacy of information provision.

  • population outcomes of three approaches to detection of Congenital Hearing Loss
    Pediatrics, 2016
    Co-Authors: Zeffie Poulakis, Melissa Wake, Teresa Y C Ching, Fiona Mensah, Lisa Gold, Karen Wirth, Alison King, Hannah Bryson
    Abstract:

    BACKGROUND: Universal newborn Hearing screening was implemented worldwide largely on modeled, not measured, long-term benefits. Comparative quantification of population benefits would justify its high cost. METHODS: Natural experiment comparing 3 population approaches to detecting bilateral Congenital Hearing Loss (>25 dB, better ear) in Australian states with similar demographics and services: (1) universal newborn Hearing screening, New South Wales 2003–2005, n = 69; (2) Risk factor screening (neonatal intensive care screening + universal risk factor referral), Victoria 2003–2005, n = 65; and (3) largely opportunistic detection, Victoria 1991–1993, n = 86. Children in (1) and (2) were followed at age 5 to 6 years and in (3) at 7 to 8 years. Outcomes were compared between states using adjusted linear regression. RESULTS: Children were diagnosed younger with universal than risk factor screening (adjusted mean difference –8.0 months, 95% confidence interval –12.3 to –3.7). For children without intellectual disability, moving from opportunistic to risk factor to universal screening incrementally improved age of diagnosis (22.5 vs 16.2 vs 8.1 months, P P = .05) and expressive (74.9 vs 80.7 vs 89.3, P P CONCLUSIONS: With new randomized trials unlikely, this may represent the most definitive population-based evidence supporting universal newborn Hearing screening. Although outperforming risk factor screening, school entry language still lagged cognitive abilities by nearly a SD. Prompt intervention and efficacy research are needed for children to reach their potential.

  • parent reported health related quality of life in children with Congenital Hearing Loss a population study
    Ambulatory Pediatrics, 2004
    Co-Authors: Melissa Wake, Elizabeth K Hughes, Christy M Collins, Zeffie Poulakis
    Abstract:

    Objective.—To report 1) health-related quality of life (HRQoL) in 7- to 8-year-old children with Congenital Hearing Loss and 2) effects of severity and age of diagnosis on parent-reported child HRQoL. Methods.—Setting: State of Victoria, Australia. Design: Two population-based cohorts of 7- to 8-year-old children. Participants: Cohort 1 consisted of 83 children (51 boys) fitted with Hearing aids or cochlear implants for Congenital Hearing Loss by 4.5 years, born before universal newborn Hearing screening, and without intellectual disability (the Children with Hearing Impairment in Victoria Outcome Study). Cohort 2 consisted of 895 children representative of the Victorian 7- to 8-year-old school population (the 1997 Health of Young Victorians Study). Outcome: The 28-item parent-proxy Child Health Questionnaire measure of HRQoL. Results.—Response rate for cohort 1 was 67%; 22% had mild, 33% had moderate, 17% had severe, and 29% had profound Hearing Loss; and the mean nonverbal IQ was 105.4 (SD = 16.5). Children with Hearing Loss scored significantly more poorly than the normative sample on 6 Child Health Questionnaire scales (Role/Social-Physical, Behavior, Mental Health, Parent Impact–Emotional, Parent Impact–Time, and Family Activities) and on the Psychosocial Summary Score. HRQoL was poorer with milder Losses, accounting for 10% and 11% of variance in the Physical and Psychosocial Summary scores, respectively. Age at diagnosis did not contribute significantly to the Summary scores, but only 11 children were diagnosed Conclusions.—Parent-reported psychosocial well-being of 7- to 8-year-old children with Hearing Loss is poorer than that of their Hearing peers. Future studies should determine whether HRQoL has improved after introduction of universal newborn Hearing screening.

  • epidemiology of Congenital Hearing Loss in victoria australia
    International Journal of Audiology, 2003
    Co-Authors: Shirley A Russ, Zeffie Poulakis, M Barker, Melissa Wake, Field W Rickards, Karryn Saunders, Frank Oberklaid
    Abstract:

    The aim of this study was to report the incidence, prevalence and clinical characteristics of Congenital Hearing Loss sufficient to require Hearing aid fitting in the first 6 years of life for the 1993 birth cohort of the state of Victoria (population 4.4 million), Australia. In 1993 64 116 infants born in the state of Victoria survived the neonatal period, Subjects included all children with Congenital Hearing Loss for which Hearing aids were fitted, at any time up to and including 31 December 1999, when the youngest member of the cohort reached 6 years of age. Data on the degree, type and etiology of Hearing Loss were available from the Australian Hearing database for all subjects. Sociodemographic and health data were available from the Victorian Infant Hearing Screening Program (VTHSP) and parent questionnaires. The known prevalence of identified Congenital Hearing Loss increased as the cohort aged. By the time the youngest member had reached the age of 6 years, 134 children (78 boys, 56 girls) had be...

Ozgur Aldemir - One of the best experts on this subject based on the ideXlab platform.

  • A Novel Mutation of SCL26A4 Gene in Turkish Family with Pendred Syndrome Pendred Sendromlu Türk Ailede SCL26A4 Geninde Yeni Mutasyon
    2020
    Co-Authors: Özgün Makale, Ozgur Aldemir, Kadri Karaer, Cengiz Cevik, Haldun Dogan, Cumali Gokce
    Abstract:

    Aim: This study aimed to investigate the molecular testing of Congenital Hearing Loss by using next generation sequencing technology. Pendred syndrome (PS) is described by severe bilateral sensorineural Hearing Loss with goiter. The mutations of SCL26A4 gene can cause PS. Material and Method: We evaluated the feasibility of targetenrichment and massive parallel sequencing technologies to interrogate all mutations of genes (GJB2, GJB3, GJB6, SLC26A4 and for the mitochondrial mutation A1555G) implicated in NSHL, we performed molecular analyses of 14 NSHL families and patients by using Miseq system (Illumina Inc.). Next-Generation sequencing (NGS) technologies provide specificity, sensitivity and reproducibility at levels sufficient to perform genetic diagnosis of Hearing Loss. Results: We found two different mutations in SCL26A4 gene such as F354S and I588T in both consanguineous families as diagnosed with Pendred syndrome and we reported a novel mutation in SCL26A4 gene. We found no mutation in GJB2, GJB3, GJB6 gene and A1555G mtDNA in this study. Conclusion: These results highlight the benefits using targeted gene panels with NGS technologies in the molecular analysis of nonsyndromic, Congenital Hearing Loss patients. This study assessed the frequency of deafness genes in Turkish children with Congenital Hearing Loss who had been treated with cochlear implantation, and we found a novel mutation (I588T) in SLC26A4 gene.

  • Pendred Sendromlu Türk Ailede SCL26A4 Geninde Yeni Mutasyon
    Mustafa Kemal Üniversitesi Tıp Dergisi, 2015
    Co-Authors: Ozgur Aldemir, Kadri Karaer, Cengiz Cevik, Haldun Dogan, Cumali Gokce
    Abstract:

    Aim: This study aimed to investigate the molecular testing of Congenital Hearing Loss by using next generation sequencing technology. Pendred syndrome (PS) is described by severe bilateral sensorineural Hearing Loss with goiter. The mutations of SCL26A4 gene can cause PS. Material and Method: We evaluated the feasibility of target-enrichment and massive parallel sequencing technologies to interrogate all mutations of genes (GJB2, GJB3, GJB6, SLC26A4 and for the mitochondrial mutation A1555G) implicated in NSHL, we performed molecular analyses of 14 NSHL families and patients by using Miseq system (Illumina Inc.). Next-Generation sequencing (NGS) technologies provide specificity, sensitivity and reproducibility at levels sufficient to perform genetic diagnosis of Hearing Loss. Results: We found two different mutations in SCL26A4 gene such as F354S and I588T in both consanguineous families as diagnosed with Pendred syndrome and we reported a novel mutation in SCL26A4 gene. We found no mutation in GJB2, GJB3, GJB6 gene and A1555G mtDNA in this study. Conclusion: These results highlight the benefits using targeted gene panels with NGS technologies in the molecular analysis of nonsyndromic, Congenital Hearing Loss patients. This study assessed the frequency of deafness genes in Turkish children with Congenital Hearing Loss who had been treated with cochlear implantation, and we found a novel mutation (I588T) in SLC26A4 gene. Key Words: Pendred syndrome, Congenital Hearing Loss, Next-Generation sequencing