Current Approaches to the Management of Usher Syndrome for the Clinician

2020 ◽  
Vol 5 (4) ◽  
pp. 907-916
Author(s):  
Alaa Koleilat ◽  
Lisa A. Schimmenti ◽  
Gayla L. Poling
Keyword(s):  
Health Care ◽  
Hearing Loss ◽  
Health Care Professionals ◽  
Vision Loss ◽  
Clinical Symptoms ◽  
Usher Syndrome ◽  
Speech Language Pathologist ◽  
Pathogenic Variants ◽  
Pediatric Populations ◽  
New Treatments

Purpose More than 460 million people suffer from disabling hearing loss worldwide, and about 50%–60% of hearing loss in infants are due to genetics. Usher syndrome is a genetic condition in which children are born deaf or hard of hearing and subsequently develop retinitis pigmentosa. It is the most common cause of deafness and blindness in pediatric populations, and pathogenic variants in 10 different genes are shown to be causative. The purpose of this review article is to advance the understanding of the clinical symptoms of an individual with Usher syndrome and highlight the latest research in the development of new treatments including gene therapy. The care and management of individuals with Usher syndrome require a team of multidisciplinary health care professionals, including an audiologist, a speech-language pathologist, an ophthalmologist, and a medical geneticist. We highlight the importance of early identification for better speech and developmental outcomes, specifically in pediatric individuals. Conclusion This review empowers audiologists to be aware of early signs of Usher syndrome as they are typically the first point of contact and provides important information for audiologists and other health care professionals involved in the care of individuals with hearing loss and vision loss.

Accommodating Dual Sensory Loss in Everyday Practice

2014 ◽  
Vol 19 (1) ◽  
pp. 4-16
Author(s):  
Katharina V. Echt ◽  
Gabrielle H. Saunders
Keyword(s):  
Health Care ◽  
Hearing Loss ◽  
Older People ◽  
Vision Loss ◽  
Sensory Loss ◽  
Sensory Impairment ◽  
Health Care Settings ◽  
Speech Language Pathologist ◽  
Dual Sensory Loss ◽  
Dual Sensory Impairment

Dual sensory impairment is increasingly prevalent in people over age 65. The combination of vision loss and hearing loss impacts not only day-to-day function from the perspective of the patient, but must also be considered by the speech-language pathologist working with older people in health care settings. This article will discuss the implications of dual sensory impairment for both patients and professionals, and will provide strategies to support communication.

The importance of mass communication in promoting positive health

2010 ◽  
pp. 108-111
Author(s):  
Thomas Lom
Keyword(s):  
Public Health ◽  
Health Care ◽  
Health Care Professionals ◽  
Public Health Policy ◽  
Mass Communication ◽  
Medical Science ◽  
Diagnostic Tools ◽  
Positive Health ◽  
For Profit ◽  
New Treatments

Medical science is enabling an explosion of discovery in diagnostic tools and in the development of new treatments and products. But how do we take advantage if we are not aware? That is where the power of mass communication comes into play. In a world with increasingly motivated and empowered patients, these go well beyond just the for-profit companies such as the pharmaceutical industry and include payers, governments, health care professionals, and institutions. The motivation for the dissemination of health information is a convergence of public health interest and public health policy with private sector commercial interests....

scholarly journals Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Justin A. Pater ◽  
Jane Green ◽  
Darren D. O’Rielly ◽  
Anne Griffin ◽  
Jessica Squires ◽  
...  
Keyword(s):  
Vision Loss ◽  
Usher Syndrome ◽  
Pathogenic Variants

scholarly journals Reporting of noise-induced hearing loss: perceptions of primary health care professionals

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
C Gonçalves ◽  
H Pedroso ◽  
J Areosa
Keyword(s):  
Primary Care ◽  
Health Care ◽  
Hearing Loss ◽  
Primary Health Care ◽  
Health Care Professionals ◽  
Health Concern ◽  
Noise Induced Hearing Loss ◽  
Care Network ◽  
Primary Health ◽  
Health Care Network

Abstract Background Worldwide, workers' health is still a Public Health concern, given the high number of hazardous occupational activities, as well as workers affected by work-related diseases. Among these diseases, occupational Noise-Induced Hearing Loss-NIHL is considered the second commonest occupational disease, and in Brazil, its reporting is compulsory. However, occupational diseases are usually underreported, hindering the knowledge of their actual magnitude, and the elaboration of prevention-oriented public policies. Objective To analyze the perception and knowledge of Primary Health Care professionals in Curitiba-Parana State, Brazil, on the compulsory NIHL reporting. Methods quantitative and qualitative approach conducted in three steps: analysis of a series of NIHL case histories reported in the official database between 2007 and 2018; application of a questionnaire to Primary Health Care Network professionals; collective interview with Primary Health Care Network nurses, speech therapists and doctors. Results NIHL reporting evidenced 82 cases, 67 (81.7%) among males, age ranging 50-64 years, 10 (12.2%) had complete high school level, 27 (32.9%) were formally employed, and 12 (14.6%) worked in the processing industry. Regarding the result of the applied questionnaire among the Primary Health Care professionals, 48 (68.7%) stated that they were prepared to identify workers' health problems, to 33 (68.7%) professionals, guidance to reassure users' comprehensive care is more important than the compulsory reporting, 21 (43.7%) claimed that they were qualified to identify NIHL cases, and 25 (52.1%) did not report the cases. Difficulties in reporting NIHL cases are: not understanding their flow, being afraid of the legal implications, which may generate difficulties in requesting audiometric testing, not having the management support, etc. Conclusions Most health care professionals are knowledgeable on NIHL, but they do not report the suspected cases due to lack of guidance. Key messages Primary care health professionals does not consider occupational health as part of the service to be provided. Primary care services are not prepared to establish the relationship between the injury and the job.

scholarly journals Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

2021 ◽  
Author(s):  
Adebolajo Adeyemo ◽  
Rabia Faridi ◽  
Parna Chattaraj ◽  
Rizwan Yousaf ◽  
Risa Tona ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Molecular Genetic ◽  
Usher Syndrome ◽  
Sensorineural Deafness ◽  
Genomic Analysis ◽  
Nonsyndromic Hearing Loss ◽  
Pathogenic Variants ◽  
Causal Variants ◽  
High Level ◽  
Ibadan Nigeria

AbstractAlthough variant alleles of hundreds of genes are associated with sensorineural deafness in children, the genes and alleles involved remain largely unknown in the Sub-Saharan regions of Africa. We ascertained 56 small families mainly of Yoruba ethno-lingual ancestry in or near Ibadan, Nigeria, that had at least one individual with nonsyndromic, severe-to-profound, prelingual-onset, bilateral hearing loss not attributed to nongenetic factors. We performed a combination of exome and Sanger sequencing analyses to evaluate both nuclear and mitochondrial genomes. No biallelic pathogenic variants were identified in GJB2, a common cause of deafness in many populations. Potential causative variants were identified in genes associated with nonsyndromic hearing loss (CIB2, COL11A1, ILDR1, MYO15A, TMPRSS3, and WFS1), nonsyndromic hearing loss or Usher syndrome (CDH23, MYO7A, PCDH15, and USH2A), and other syndromic forms of hearing loss (CHD7, OPA1, and SPTLC1). Several rare mitochondrial variants, including m.1555A>G, were detected in the gene MT-RNR1 but not in control Yoruba samples. Overall, 20 (33%) of 60 independent cases of hearing loss in this cohort of families were associated with likely causal variants in genes reported to underlie deafness in other populations. None of these likely causal variants were present in more than one family, most were detected as compound heterozygotes, and 77% had not been previously associated with hearing loss. These results indicate an unusually high level of genetic heterogeneity of hearing loss in Ibadan, Nigeria and point to challenges for molecular genetic screening, counseling, and early intervention in this population.

scholarly journals A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Cong Zhou ◽  
Yuanyuan Xiao ◽  
Hanbing Xie ◽  
Shanling Liu ◽  
Jing Wang
Keyword(s):  
Hearing Loss ◽  
Prenatal Diagnosis ◽  
Usher Syndrome ◽  
Chinese Patient ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Compound Heterozygous Variants ◽  
Gene Panels

Abstract Background Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a novel p.(Phe1583Leufs*10) variant in USH2A, which met the needs of prenatal diagnosis of the patient's mother. Case presentation Genomic DNA obtained from a five-year-old girl with hearing loss was analyzed via the hearing loss-targeted gene panels. We identified the compound heterozygous variants c.8559-2A>G and c.4749delT in Usher syndrome type 2A (USH2A) gene as the underlying cause of the patient; the former variation has been reported in the literature, but not the latter. The parents of the girl were heterozygous carriers. The two variants were classified as pathogenic. Based on these findings, amniotic fluid samples were used for prenatal diagnosis of the couple's fetus, which was found to carry c.4749delT but not c.8559-2A>G variation. During the follow-up period of more than 9 months after the birth of the fetus, it was confirmed that the infant was healthy. Conclusions The results of the present study identified two compound heterozygous USH2A variants in a patient with hearing loss and reported a novel USH2A variant which expands the spectrum of USH2A variants in USH.

Meeting the Hearing Health Care Needs of the Oldest Older Adult

2015 ◽  
Vol 24 (2) ◽  
pp. 100-103 ◽  
Author(s):  
Barbara E. Weinstein
Keyword(s):  
Health Care ◽  
Hearing Loss ◽  
Older Adult ◽  
Health Care Professionals ◽  
Care Delivery ◽  
Functional Limitations ◽  
Health Care Needs ◽  
Care Needs ◽  
Hearing Health ◽  
Function Management

Purpose The purpose of this article is to provide an overview of the auditory needs of and approaches to management of the oldest older adult. Method This article is an overview of principles of geriatric care and implications of untreated hearing loss for function, management, and care of the oldest older adult. Conclusions Person-centered care is at the heart of health care delivery to the oldest older adult, who typically suffers from multimorbidity. Given the high prevalence of moderate to severe hearing loss in this cohort and the functional limitations of untreated hearing loss, audiologists must become proactive in educating stakeholders on the importance of identifying and referring the oldest older adult for management of hearing health care needs. Audiologists have an integral role to play in collaborating with health care professionals in optimizing health care for the oldest older adult.

scholarly journals Structure and Membrane Targeting of the PDZD7 Harmonin Homology Domain (HHD) Associated With Hearing Loss

2021 ◽  
Vol 9 ◽  
Author(s):  
Lin Lin ◽  
Huang Wang ◽  
Decheng Ren ◽  
Yitian Xia ◽  
Guang He ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Vision Loss ◽  
Biochemical Characterization ◽  
Usher Syndrome ◽  
Pdz Domain ◽  
Binding Pocket ◽  
Binding Mode ◽  
Lipid Binding ◽  
Membrane Targeting ◽  
Pdz Domains

Usher syndrome (USH) is the leading cause of hereditary hearing–vision loss in humans. PDZ domain-containing 7 (PDZD7) has been reported to be a modifier of and contributor to USH. PDZD7 co-localizes with USH2 proteins in the inner ear hair cells and is essential for ankle-link formation and stereocilia development. PDZD7 contains three PDZ domains and a low-complexity region between the last two PDZ domains, which has been overlooked in the previous studies. Here we characterized a well-folded harmonin homology domain (HHD) from the middle region and solved the PDZD7 HHD structure at the resolution of 1.49 Å. PDZD7 HHD adopts the same five-helix fold as other HHDs found in Harmonin and Whirlin; however, in PDZD7 HHD, a unique α1N helix occupies the canonical binding pocket, suggesting a distinct binding mode. Moreover, we found that the PDZD7 HHD domain can bind lipid and mediate the localization of PDZD7 to the plasma membrane in HEK293T cells. Intriguingly, a hearing-loss mutation at the N-terminal extension region of the HHD can disrupt the lipid-binding ability of PDZD7 HHD, suggesting that HHD-mediated membrane targeting is required for the hearing process. This structural and biochemical characterization of the PDZD7 HHD region provides mechanistic explanations for human deafness-causing mutations in PDZD7. Furthermore, this structure will also facilitate biochemical and functional studies of other HHDs.

Communication Strategies and Accommodations Utilized by Health Care Providers With Hearing Loss: A Pilot Study

2014 ◽  
Vol 23 (1) ◽  
pp. 7-19 ◽  
Author(s):  
Alanna R. Trotter ◽  
Susan B. Matt ◽  
Danuta Wojnar
Keyword(s):  
Health Care ◽  
Hearing Loss ◽  
Pilot Study ◽  
Health Care Providers ◽  
Health Care Professionals ◽  
Communication Strategies ◽  
Assistive Technologies ◽  
Care Providers ◽  
Communication Techniques ◽  
Patient Provider Communication

Purpose Poor communication between health care providers and patients may negatively impact patient outcomes, and enhancing communication is one way to improve outcomes. Effective communication is particularly important for health care providers who have hearing loss. The authors found that a systematic survey of the communication strategies and experiences of health care providers with hearing loss had not yet been conducted. Method In this pilot study, 32 health care professionals with hearing loss were recruited via the Association of Medical Professionals With Hearing Losses and were asked to complete a 28-question survey. Results Health care providers with hearing loss already employ strategies that all health care providers are encouraged to use in order to enhance patient–provider communication, and survey participants have found the strategies to be effective. Conclusions The communication techniques and assistive technologies used by individuals with hearing loss seem to be effective: All participants reported feeling able to communicate effectively with patients at least most of the time. More research is needed to determine if use of these communication techniques has similar results for health care providers without hearing loss.

Aetiologies of acquired deafblindness in a national sample

2018 ◽  
Vol 36 (2) ◽  
pp. 175-189 ◽  
Author(s):  
Jonas Henau Teglbjærg ◽  
Hanna Birkbak Hovaldt ◽  
Christine Lehane ◽  
Jesper Dammeyer
Keyword(s):  
Hearing Loss ◽  
Macular Degeneration ◽  
Vision Loss ◽  
Usher Syndrome ◽  
National Sample ◽  
Age Related Macular Degeneration ◽  
Age Related

The present study provides an overview of aetiologies and co-morbidities of acquired deafblindness in a Danish national sample of 514 individuals above 50 years of age identified with acquired deafblindness. Information was obtained from a survey and a register. The most frequent aetiology of vision loss was age-related macular degeneration (55.4%). The most frequent aetiology of hearing loss was presbycusis (53.7%). The most frequent aetiology of acquired deafblindness was the combination of age-related macular degeneration and presbycusis (41.5%). However, among the younger participants (50–59 years of age), Usher syndrome was the most common aetiology (62.5%). The aetiologies of acquired deafblindness are many and constituted by several different combinations of hearing and vision loss aetiologies. The most frequent aetiologies are age related.

Sign in / Sign up

Export Citation Format

Share Document