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https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#1
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. This 3.5-year-old boy had microcephaly and failure to thrive within the first 3 months of life...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#2
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28296815/anterior-trunk-mobility-does-not-predict-disability-in-elderly-women-with-acute-low-back-pain-brazilian-back-complaints-in-the-elders-bace-brazil-study-results
#3
Diogo Carvalho Felicio, Daniele Sirineu Pereira, Juliano Bergamaschine Mata Diz, Barbara Zille de Queiroz, Juscelio Pereira da Silva, Amanda Aparecida Oliveira Leopoldino, Leani Souza Maximo Pereira
STUDY DESIGN: Cross-sectional, ancillary study of an international multicenter epidemiological study. OBJECTIVE: To investigate the relationship of the anterior trunk mobility with self-report and physical performance measures in elderly women with acute low back pain (LBP). SUMMARY OF BACKGROUND DATA: LBP is one of the most prevalent pain complaints in the elderly population. It is postulated that the increased range of motion (ROM) of limited joints of the trunk may improve LBP and functionality of patients...
March 14, 2017: Spine
https://www.readbyqxmd.com/read/28280057/discourses-of-prejudice-in-the-professions-the-case-of-sign-languages
#4
Tom Humphries, Poorna Kushalnagar, Gaurav Mathur, Donna Jo Napoli, Carol Padden, Christian Rathmann, Scott Smith
There is no evidence that learning a natural human language is cognitively harmful to children. To the contrary, multilingualism has been argued to be beneficial to all. Nevertheless, many professionals advise the parents of deaf children that their children should not learn a sign language during their early years, despite strong evidence across many research disciplines that sign languages are natural human languages. Their recommendations are based on a combination of misperceptions about (1) the difficulty of learning a sign language, (2) the effects of bilingualism, and particularly bimodalism, (3) the bona fide status of languages that lack a written form, (4) the effects of a sign language on acquiring literacy, (5) the ability of technologies to address the needs of deaf children and (6) the effects that use of a sign language will have on family cohesion...
March 9, 2017: Journal of Medical Ethics
https://www.readbyqxmd.com/read/28277212/the-effect-of-signal-to-noise-ratio-on-linguistic-processing-in-a-semantic-judgment-task-an-aging-study
#5
Nicholas Stanley, Tara Davis, Julie Estis
BACKGROUND: Aging effects on speech understanding in noise have primarily been assessed through speech recognition tasks. Recognition tasks, which focus on bottom-up, perceptual aspects of speech understanding, intentionally limit linguistic and cognitive factors by asking participants to only repeat what they have heard. On the other hand, linguistic processing tasks require bottom-up and top-down (linguistic, cognitive) processing skills and are, therefore, more reflective of speech understanding abilities used in everyday communication...
March 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28275357/different-teams-same-conclusions-a-systematic-review-of-existing-clinical-guidelines-for-the-assessment-and-treatment-of-tinnitus-in-adults
#6
Thomas E Fuller, Haula F Haider, Dimitris Kikidis, Alec Lapira, Birgit Mazurek, Arnaud Norena, Sarah Rabau, Rachelle Lardinois, Christopher R Cederroth, Niklas K Edvall, Petra G Brueggemann, Susanne N Rosing, Anestis Kapandais, Dorte Lungaard, Derek J Hoare, Rilana F F Cima
Background: Though clinical guidelines for assessment and treatment of chronic subjective tinnitus do exist, a comprehensive review of those guidelines has not been performed. The objective of this review was to identify current clinical guidelines, and compare their recommendations for the assessment and treatment of subjective tinnitus in adults. Method: We systematically searched a range of sources for clinical guidelines (as defined by the Institute of Medicine, United States) for the assessment and/or treatment of subjective tinnitus in adults...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28271168/-perception-of-hearing-problems-in-the-older-population
#7
S Moser, W Luxenberger, W Freidl
BACKGROUND: Age-related hearing loss is one of the most common chronic sensory impairments in the older population. This chronic condition is associated with bio-psychosocial consequences such as cognitive decline, depression, withdrawal, isolation, and reduced wellbeing. OBJECTIVE: This study aimed to investigate the perception of hearing problems among older women and men (≥55 years) with age-related hearing loss. Furthermore, the association between functional hearing loss and perceived hearing problems was examined...
March 7, 2017: HNO
https://www.readbyqxmd.com/read/28270784/auditory-and-non-auditory-contributions-for-unaided-speech-recognition-in-noise-as-a-function-of-hearing-aid-use
#8
Anja Gieseler, Maike A S Tahden, Christiane M Thiel, Kirsten C Wagener, Markus Meis, Hans Colonius
Differences in understanding speech in noise among hearing-impaired individuals cannot be explained entirely by hearing thresholds alone, suggesting the contribution of other factors beyond standard auditory ones as derived from the audiogram. This paper reports two analyses addressing individual differences in the explanation of unaided speech-in-noise performance among n = 438 elderly hearing-impaired listeners (mean = 71.1 ± 5.8 years). The main analysis was designed to identify clinically relevant auditory and non-auditory measures for speech-in-noise prediction using auditory (audiogram, categorical loudness scaling) and cognitive tests (verbal-intelligence test, screening test of dementia), as well as questionnaires assessing various self-reported measures (health status, socio-economic status, and subjective hearing problems)...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28253695/characterizing-the-binaural-contribution-to-speech-in-noise-reception-in-elderly-hearing-impaired-listeners
#9
Tobias Neher
To scrutinize the binaural contribution to speech-in-noise reception, four groups of elderly participants with or without audiometric asymmetry <2 kHz and with or without near-normal binaural intelligibility level difference (BILD) completed tests of monaural and binaural phase sensitivity as well as cognitive function. Groups did not differ in age, overall degree of hearing loss, or cognitive function. Analyses revealed an influence of BILD status but not audiometric asymmetry on monaural phase sensitivity, strong correlations between monaural and binaural detection thresholds, and monaural and binaural but not cognitive BILD contributions...
February 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28240981/working-memory-sleep-and-hearing-problems-in-patients-with-tinnitus-and-hearing-loss-fitted-with-hearing-aids
#10
Reza Zarenoe, Mathias Hällgren, Gerhard Andersson, Torbjörn Ledin
BACKGROUND: Tinnitus is a common condition and there is a need to evaluate effects of tinnitus management in relation to moderating factors such as degree of hearing loss. As it is possible that tinnitus influences concentration, and thus is likely to disturb cognitive processing, the role of cognitive functioning also needs to be investigated. PURPOSE: To compare a group of patients with sensorineural hearing loss and tinnitus to a control group with only sensorineural hearing loss (and no tinnitus)...
February 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28240978/evaluation-of-the-self-fitting-process-with-a-commercially-available-hearing-aid
#11
Elizabeth Convery, Gitte Keidser, Mark Seeto, Margot McLelland
BACKGROUND: Hearing aids and personal sound amplification products that are designed to be self-fitted by the user at home are becoming increasingly available in the online marketplace. While these devices are often marketed as a low-cost alternative to traditional hearing health-care, little is known about people's ability to successfully use and manage them. Previous research into the individual components of a simulated self-fitting procedure has been undertaken, but no study has evaluated performance of the procedure as a whole using a commercial product...
February 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28226077/superficial-siderosis-of-the-central-nervous-system-is-a-rare-and-possibly-underdiagnosed-disorder
#12
Yara Dadalti Fragoso, Tarso Adoni, Joseph Bruno Bidin Brooks, Sidney Gomes, Marcus Vinicius Magno Goncalves, Cassio Lemos Jovem, Andre Palma da Cunha Matta, Joao Filipe Oliveira, Fabio Siquinelli, Carlos Bernardo Tauil, Guilherme Navarro Troiani, Paulo Roberto Wille
Methods: Series of cases collected from Brazilian centers. Results: We studied 13 cases of patients presenting with progressive histories of neurological dysfunction caused by SS-CNS. The most frequent clinical findings in these patients were progressive gait ataxia, hearing loss, hyperreflexia and cognitive dysfunction. The diagnoses of SS-CNS were made seven months to 30 years after the disease onset. Conclusion: SS-CNS is a rare disease that may remain undiagnosed for long periods...
February 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28213134/speech-in-noise-perception-in-musicians-a-review
#13
REVIEW
Emily B J Coffey, Nicolette Mogilever, Robert J Zatorre
The ability to understand speech in the presence of competing sound sources is an important neuroscience question in terms of how the nervous system solves this computational problem. It is also a critical clinical problem that disproportionally affects the elderly, children with language-related learning disorders, and those with hearing loss. Recent evidence that musicians have an advantage on this multifaceted skill has led to the suggestion that musical training might be used to improve or delay the decline of speech-in-noise (SIN) function...
February 14, 2017: Hearing Research
https://www.readbyqxmd.com/read/28167020/early-childhood-otitis-media-and-later-school-performance-a-prospective-cohort-study-of-associations
#14
Vincent Fougner, Asbjørn Kørvel-Hanquist, Anders Koch, Jesper Dammeyer, Janni Niclasen, Jørgen Lous, Preben Homøe
INTRODUCTION: Otitis media (OM) is a common disease in childhood and hearing loss (HL) is the most common complication. Prolonged HL may lead to language delay and cognitive difficulties. However, the consequences of HL due to OM are not fully understood. The aim of this study was to determine the possible association between number of OM episodes in childhood and self-rated school performance controlling for potential confounders. METHODS: Prospectively gathered systematic interview data on OM episodes in early childhood and school performance at 11 years of age were obtained from The Danish National Birth Cohort, involving >100,000 individual pregnancies and their offspring...
March 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28160812/noise-and-neurotoxic-chemical-exposure-relationship-to-workplace-traumatic-injuries-a-review
#15
Cheryl Fairfield Estill, Carol H Rice, Thais Morata, Amit Bhattacharya
INTRODUCTION: More than 5,000 fatalities and eight million injuries occurred in the workplace in 2007 at a cost of $6 billion and $186 billion, respectively. Neurotoxic chemicals are known to affect central nervous system functions among workers, which include balance and hearing disorders. However, it is not known if there is an association between exposure to noise and solvents and acute injuries. METHOD: A thorough review was conducted of the literature on the relationship between noise or solvent exposures and hearing loss with various health outcomes...
February 2017: Journal of Safety Research
https://www.readbyqxmd.com/read/28148613/delirium-in-trauma-patients-prevalence-and-predictors
#16
Kathryn T Von Rueden, Breighanna Wallizer, Paul Thurman, Karen McQuillan, Tiffany Andrews, Jennifer Merenda, Heesook Son
BACKGROUND: Delirium is associated with increased mortality, morbidity, hospital costs, and postdischarge cognitive dysfunction. Most research focuses on nontrauma patients receiving mechanical ventilation in the intensive care unit. OBJECTIVES: To determine the prevalence and predictors of delirium in trauma patients residing in intensive and intermediate care units of an academic medical center. METHODS: Trauma patients were screened for delirium by using the Confusion Assessment Method for the Intensive Care Unit...
February 2017: Critical Care Nurse
https://www.readbyqxmd.com/read/28133939/reduced-acoustic-startle-response-and-peripheral-hearing-loss-in-the-5xfad-mouse-model-of-alzheimer-s-disease
#17
Timothy P O'Leary, Sooyoun Shin, Emre Fertan, Rachel N Dingle, Awad Almuklass, Rhian K Gunn, Zhiping Yu, Jian Wang, Richard E Brown
Hearing dysfunction has been associated with Alzheimer's disease in humans, but there is little data on the auditory function of mouse models of Alzheimer's disease. Furthermore, characterization of hearing ability in mouse models is needed to ensure that tests of cognition that use auditory stimuli are not confounded by hearing dysfunction. Therefore we assessed acoustic startle response and pre-pulse inhibition in the double transgenic 5xFAD mouse model of Alzheimer's disease from 3-4 to 16 months of age...
January 29, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28132094/unilateral-hearing-loss-in-children-a-retrospective-study-and-a-review-of-the-current-literature
#18
Anna-Katharina Rohlfs, Johannes Friedhoff, Andrea Bohnert, Achim Breitfuss, Markus Hess, Frank Müller, Anke Strauch, Marianne Röhrs, Thomas Wiesner
Despite the introduction of universal newborn hearing screening (UNHS), unilateral hearing loss (UHL) is sometimes recognized late. This diagnostic delay has adverse repercussions, given the importance of binaural hearing for the development of normal auditory processing. It is incorrect to maintain that unilateral hearing is the minimum requirement for adequate speech development and that hearing aid provision is consequently unnecessary. In our retrospective study, hearing aid provision resulted in improved directional and selective hearing (quiet and noisy environments) and, compared with their chronically ill counterparts, the children in our study displayed superior health-related quality of life (HRQoL) scores in all areas...
January 28, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28121245/solar-powered-hearing-aids-for-children-with-impaired-hearing-in-vietnam-a-pilot-study
#19
Quang Thanh Vo, Dung Pham, Kevin J Choi, Uyen T T Nguyen, Lan Le, Trudy Shanewise, Lien Tran, Nga Nguyen, Walter T Lee
BACKGROUND: Hearing loss is a barrier to speech and social and cognitive development. This can be especially pronounced in children living in low- and middle-income countries with limited resources. AIM: To determine the feasibility, durability and social impact of ComCare GLW solar-powered hearing aids provided for Vietnamese children with hearing impairment. METHODS: A retrospective review of data from an international, multi-discipline humanitarian visit was performed...
January 25, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28114665/exploring-the-relevance-of-items-in-the-communicative-participation-item-bank-cpib-for-individuals-with-hearing-loss
#20
Christi W Miller, Carolyn R Baylor, Kristen Birch, Kathryn M Yorkston
Purpose: The Communicative Participation Item Bank (CPIB) was developed to evaluate participation restrictions in communication situations for individuals with speech and language disorders. This study evaluated the potential relevance of CPIB items for individuals with hearing loss. Method: Cognitive interviews were conducted with 17 adults with a range of treated and untreated hearing loss, who responded to 46 items. Interviews were continued until saturation was reached and prevalent trends emerged...
January 9, 2017: American Journal of Audiology
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