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Public Attitudes About Eye and Vision Health.

Public Attitudes About Eye and Vision Health.

JAMA Ophthalmol. 2016 Aug 4;

Authors: Scott AW, Bressler NM, Ffolkes S, Wittenborn JS, Jorkasky J

Abstract
Importance: Understanding the importance of eye health to the US population across ethnic and racial groups helps guide strategies to preserve vision in Americans and inform policy makers regarding priority of eye research to Americans.
Objective: To understand the importance and awareness of eye health in the US population across ethnic and racial groups.
Design, Setting, and Participants: Online nationwide poll created by experienced policy makers in August 2014 designed to understand the importance of eye health in the US population, although the poll was not subjected previously to formal construct-validity testing. The population survey comprised 2044 US adults including non-Hispanic white individuals and minority groups with minority oversampling to provide predicted margins of error no greater than 5%.
Main Outcomes and Measures: Respondent attitudes on the importance of eye health, concerns about losing vision, support for eye health research, and awareness of eye diseases and risk factors.
Results: Of the 2044 survey respondents, the weighten mean age was 46.2 years, 48% were male, and 11% were uninsured. Sixty three percent reported wearing glasses. Most individuals surveyed (87.5%; 95% CI, 84.5%-90%) believed that good vision is vital to overall health while 47.4% (95% CI, 43.7%-51.1%) rated losing vision as the worst possible health outcome. Respondents ranked losing vision as equal to or worse than losing hearing, memory, speech, or a limb. When asked about various possible consequences of vision loss, quality of life ranked as the top concern followed by loss of independence. Nearly two-thirds of respondents were aware of cataracts (65.8%) or glaucoma (63.4%); only half were aware of macular degeneration; 37.3% were aware of diabetic retinopathy; and 25% were not aware of any eye conditions. Approximately 75.8% and 58.3%, respectively, identified sunlight and family heritage as risk factors for losing vision; only half were aware of smoking risks on vision loss.
Conclusions and Relevance: In this well-characterized survey across all US ethnic and racial groups, vision health was a priority with high support for ongoing research for vision and eye health. Many Americans were unaware of important eye diseases and their behavioral or familial risk factors. The consistency of these findings among the varying ethnic/racial groups underscores the importance of educating the public on eye health and mobilizing public support for vision research.

PMID: 27490785 [PubMed - as supplied by publisher]

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The Role of the World Health Organization's International Classification of Functioning, Health and Disability in Models of Infant Cochlear Implant Management.

The Role of the World Health Organization's International Classification of Functioning, Health and Disability in Models of Infant Cochlear Implant Management.

Semin Hear. 2016 Aug;37(3):272-90

Authors: Psarros C, Love S

Abstract
Newborn hearing screening has led to the early diagnosis of hearing loss in neonates and early device fitting is common, based primarily on electrophysiologic and radiologic information, with some supplementary behavioral measures. Such early fitting of hearing devices, in particular cochlear implants (CIs), has been beneficial to the majority of children implanted under the age of 12 months who meet the cochlear implant candidacy criteria. Comorbidities are common in children with hearing loss, although they may not be evident in neonates and may not emerge until later in infants. Evidence suggests that the child's outcomes are strongly influenced by a range of environmental factors including emotional and social support from the immediate and extended family. Consequently, such factors are important in service planning and service delivery for babies and children receiving CIs. The World Health Organization's International Classification of Functioning, Health and Disability (ICF) can provide a framework to facilitate the holistic management of pediatric cochlear implant recipients. The ICF also can be used to map the progress of recipients over time to highlight emerging issues that require intervention. This article will discuss our preliminary use of the ICF to establish clinical practice; develop advocacy skills among clients and their families; identify eligibility for services such as support in educational settings; enable access to modes of service delivery such as telepractice; provide a conceptual framework for policy and program development for pediatric cochlear implant recipients (i.e., in both disability and health services); and, most importantly, establish a clear pathway for the longitudinal management of the cochlear implant in a child's future. It is anticipated that this model will be applied to other populations receiving cochlear implants through our program.

PMID: 27489404 [PubMed]

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Relevance of the International Classification of Functioning, Health and Disability: Children & Youth Version in Early Hearing Detection and Intervention Programs.

Relevance of the International Classification of Functioning, Health and Disability: Children & Youth Version in Early Hearing Detection and Intervention Programs.

Semin Hear. 2016 Aug;37(3):257-71

Authors: Bagatto MP, Moodie ST

Abstract
Early hearing detection and intervention (EHDI) programs have been guided by principles from the Joint Committee on Infant Hearing and an international consensus of best practice principles for family-centered early intervention. Both resources provide a solid foundation from which to design, implement, and sustain a high-quality, family-centered EHDI program. As a result, infants born with permanent hearing loss and their families will have the support they need to develop communication skills. These families also will benefit from programs that align with the framework offered by the World Health Organization's International Classification of Functioning, Disability and Health: Children & Youth Version (ICF-CY). Within this framework, health and functioning is defined and measured by describing the consequences of the health condition (i.e., hearing loss) in terms of body function, structures, activity, and participation as well as social aspects of the child. This article describes the relevance of the ICF-CY for EHDI programs and offers a modified approach by including aspects of quality of life and human development across time.

PMID: 27489403 [PubMed]

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The expression of NLRX1 in C57BL/6 mice cochlear hair cells: Possible relation to aging- and neomycin-induced deafness.

Related Articles

The expression of NLRX1 in C57BL/6 mice cochlear hair cells: Possible relation to aging- and neomycin-induced deafness.

Neurosci Lett. 2016 Mar 11;616:138-46

Authors: Yang Q, Sun G, Cao Z, Yin H, Qi Q, Wang J, Liu W, Bai X, Wang H, Li J

Abstract
Nucleotide-binding domain and leucine-rich-repeat-containing family member X1 (NLRX1) is a cytoplasmic pattern recognition receptor that is predominantly located in mitochondria, which is tightly related to mitochondrial damage, reactive oxygen species (ROS) production, inflammation and apoptosis. The present study was designed to explore whether NLRX1 expresses in C57BL/6 mice cochlear hair cells and, if so, to investigate the possible correlations between NLRX1 and hearing. The location and dynamic expression of NLRX1 were investigated by immunofluorescence, real-time PCR and Western blotting. Hearing thresholds of C57BL/6 mice were measured by auditory brainstem response (ABR). Moreover, the downstream inflammatory and apoptotic pathways regulated by NLRX1 were examined in age-related and neomycin-induced hair cell damage. Data showed that NLRX1 expressed in cytoplasm of C57BL/6 cochlear hair cells, especially in the cilia, which were essential for sound sensation. The expression of NLRX1 in hair cells increased as the mice grew up, and, decreased as they aged. Additionally, the activated apoptotic JNK pathway was detected in 9-month old mice with worse-hearing and 3-month old mice treated with neomycin. Overall, results indicate that NLRX1 may relate to hair cell maturity, hearing formation and maintenance, and promote hair cell apoptosis through JNK pathway induced by aging and neomycin.

PMID: 26836140 [PubMed - indexed for MEDLINE]

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GeneReviews(®)

GeneReviews(®)

Book. 1993

Authors: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K

Abstract
CLINICAL CHARACTERISTICS: Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. More than half of individuals have the neurologic findings of progressive extrapyramidal movements (dystonic spasms with dystonic posturing with dysarthria and dysphagia), moderate bilateral post-lingual sensorineural hearing loss, and mild intellectual disability. To date 32 families (including 23 with a molecularly confirmed diagnosis) with a total of 76 affected individuals have been reported.
DIAGNOSIS/TESTING: The diagnosis is established in a proband with suggestive clinical findings and by identification of biallelic pathogenic variants in DCAF17 (formerly known as C2orf37) on molecular genetic testing.
MANAGEMENT: Treatment of manifestations: Treatment is symptomatic and should be managed by a multidisciplinary team. Hypogonadism requires hormone replacement therapy to induce secondary sex characteristics and promote bone health at the usual age of puberty. Alopecia is treated symptomatically for cosmetic reasons only. Treatment for dystonia is routine; oral medications are tried first and followed in some instances by botulinum toxin injection and/or deep-brain stimulation. Dysarthria often benefits from consultation with a speech therapist. Those with dysphagia often require measures to reduce oral secretions, use of thickened liquids and pureed foods to avoid aspiration, and eventually a gastrostomy to help maintain caloric intake. Hearing loss, intellectual disability, diabetes mellitus, and hypothyroidism are treated as per routine. Surveillance: Monitoring for endocrine abnormalities is recommended at the following ages: hypogonadism (12-14 years), diabetes mellitus (in the 20s or later), hypothyroidism (in the 20s or later). Neurologic manifestations should be monitored by a neurologist as well as experts in rehabilitative medicine, speech, and swallowing. Hearing should be monitored annually. Agents/circumstances to avoid: Persons with dystonia should avoid situations in which the risk of falling is increased. Evaluation of relatives at risk: Molecular genetic testing for the DCAF17 pathogenic variants identified in the proband is appropriate for evaluation of apparently asymptomatic older and younger sibs to identify, as early as possible, those who would benefit from early identification and treatment of potential complications.
GENETIC COUNSELING: WSS is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the pathogenic DCAF17 variants have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic diagnosis are possible options.

PMID: 27489925

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