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https://www.readbyqxmd.com/read/28221712/discovery-of-myh14-as-an-important-and-unique-deafness-gene-causing-prelingually-severe-autosomal-dominant-non-syndromic-hearing-loss
#1
Bong Jik Kim, Ah Reum Kim, Jin Hee Han, Chung Lee, Doo Yi Oh, Byung Yoon Choi
BACKGROUND: Pathogenic variants of MYH14 have been known to be associated-in either a syndromic or non-syndromic manner-with hearing loss. Interestingly, all reported cases to date of MYH14-related non-syndromic hearing loss with detailed phenotypes have demonstrated mild-to-moderate progressive hearing loss with postlingual onset. METHODS: In this study, targeted resequencing (TRS) of known deafness genes was performed to identify the causative variant in two multiplex families segregating AD inherited hearing loss...
February 21, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28220085/peripheral-visual-reaction-time-is-faster-in-deaf-adults-and-british-sign-language-interpreters-than-in-hearing-adults
#2
Charlotte J Codina, Olivier Pascalis, Heidi A Baseler, Alexandra T Levine, David Buckley
Following auditory deprivation, the remaining sense of vision has shown selective enhancement in visual cognition, especially in the area of near peripheral vision. Visual acuity is poor in the far periphery and may be an area where sound confers the greatest advantage in hearing persons. Experience with a visuospatial language such as British Sign Language (BSL) makes additional demands on the visual system. To test the different and separable effects of deafness and use of a visuo-spatial language on far peripheral visual processing, we investigated visual reaction times (RTs) and response accuracy to visual stimuli, between 30° and 85° along the four cardinal and four inter-cardinal meridians...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28219845/gait-ground-reaction-force-characteristics-in-deaf-and-hearing-children
#3
Amir Ali Jafarnezhadgero, Mahdi Majlesi, Elaheh Azadian
The link between gait parameters and hearing loss is not well understood. The objective of this study was to investigate the effects of the gait ground reaction forces, their time to peak, vertical loading rate, impulses and free moment during gait in deaf and hearing children. Thirty male children were equally divided into a healthy group and a group with hearing loss problems (Deaf group). Ground reaction forces were analyzed during barefoot walking. MANOVA test was used for between group comparisons. The significance level was set at p<0...
February 14, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28219036/-i-use-it-when-i-see-it-the-role-of-development-and-experience-in-deaf-and-hearing-children-s-understanding-of-iconic-gesture
#4
Rachel W Magid, Jennie E Pyers
Iconicity is prevalent in gesture and in sign languages, yet the degree to which children recognize and leverage iconicity for early language learning is unclear. In Experiment 1 of the current study, we presented sign-naïve 3-, 4- and 5-year-olds (n=87) with iconic shape gestures and no additional scaffolding to ask whether children can spontaneously map iconic gestures to their referents. Four- and five-year-olds, but not three-year-olds, recognized the referents of iconic shape gestures above chance. Experiment 2 asked whether preschoolers (n=93) show an advantage in fast-mapping iconic gestures compared to arbitrary ones...
February 16, 2017: Cognition
https://www.readbyqxmd.com/read/28215374/collaboration-with-deaf-communities-to-conduct-accessible-health-surveillance
#5
Steven L Barnett, Kelly A Matthews, Erika J Sutter, Lori A DeWindt, Jacqueline A Pransky, Amanda M O'Hearn, Tamala M David, Robert Q Pollard, Vincent J Samar, Thomas A Pearson
INTRODUCTION: Populations of deaf sign language users experience health disparities unmeasured by current public health surveillance. Population-specific health data are necessary to collaboratively identify health priorities and evaluate interventions. Standardized, reproducible, and language-concordant data collection in sign language is impossible via written or telephone surveys. METHODS: Deaf and hearing researchers, community members, and other stakeholders developed a broad computer-based health survey based on the telephone-administered Behavioral Risk Factor Surveillance System...
March 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28207575/health-related-quality-of-life-among-young-children-with-cochlear-implants-and-developmental-disabilities
#6
Anat Zaidman-Zait, Deirdre Curle, Janet R Jamieson, Ruth Chia, Frederick K Kozak
OBJECTIVE: The present study examined differences in health-related quality of life (HRQoL) between deaf children with cochlear implants (CI) with and without developmental disabilities (DD) and differences across HRQoL domains within both groups of children. METHODS: Ninety-two parents of children with CI aged 3-7 years participated in this cross-sectional study. Of these children, 43 had DD (i.e., CI-DD group) and 49 had no DD or chronic illness, demonstrating overall typical development (i...
February 15, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28204923/language-deprivation-syndrome-a-possible-neurodevelopmental-disorder-with-sociocultural-origins
#7
Wyatte C Hall, Leonard L Levin, Melissa L Anderson
PURPOSE: There is a need to better understand the epidemiological relationship between language development and psychiatric symptomatology. Language development can be particularly impacted by social factors-as seen in the developmental choices made for deaf children, which can create language deprivation. A possible mental health syndrome may be present in deaf patients with severe language deprivation. METHODS: Electronic databases were searched to identify publications focusing on language development and mental health in the deaf population...
February 16, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28203210/auditory-and-visual-electrophysiology-of-deaf-children-with-cochlear-implants-implications-for-cross-modal-plasticity
#8
David P Corina, Shane Blau, Todd LaMarr, Laurel A Lawyer, Sharon Coffey-Corina
Deaf children who receive a cochlear implant early in life and engage in intensive oral/aural therapy often make great strides in spoken language acquisition. However, despite clinicians' best efforts, there is a great deal of variability in language outcomes. One concern is that cortical regions which normally support auditory processing may become reorganized for visual function, leaving fewer available resources for auditory language acquisition. The conditions under which these changes occur are not well understood, but we may begin investigating this phenomenon by looking for interactions between auditory and visual evoked cortical potentials in deaf children...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28191326/consanguinity-among-parents-of-iranian-deaf-children
#9
Mohammad Ajallouyan, Shokofeh Radfar, Sima Nouhi, Seid Abbas Tavallaie, Susan Amirsalari, Jaleh Yousefi, Mahdieh Hasanali Fard
BACKGROUND: It seems that there is a relationship between consanguinity and profound hearing loss but there is little data about the association of consanguinity and hearing loss in Iran. OBJECTIVES: The aim of this study is to demonstrate the causes of profound bilateral sensorineural hearing loss among Iranian samples who are candidates for cochlear implantation. METHODS: This study was retrospective, analytical, and designed to collect information about profound hearing impaired cases referred to the Baqiyatallah Cochlear implantation center using enumeration...
November 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28187060/risk-factors-in-children-older-than-5-years-with-pneumococcal-meningitis-data-from-a-national-network
#10
Fanny Hénaff, Corinne Levy, Robert Cohen, Capucine Picard, Emmanuelle Varon, Christèle Gras Le Guen, Elise Launay
INTRODUCTION: The occurrence of meningitis in children > 5 years old may be associated with specific predisposing factors that can be anatomic, such as cerebrospinal fluid (CSF) fistula or breach, or related to genetic susceptibility or N inborn or acquired immunologic defect. This study aimed to assess the anatomical and immunologic risk factors in children > 5 years old with pneumococcal meningitis and prospectively enrolled in the French national meningitis network. METHODS: We analyzed all data for children 5 to 15 years old with a diagnosis of pneumococcal meningitis between 2001 and 2013...
December 13, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28185206/what-you-don-t-know-can-hurt-you-the-risk-of-language-deprivation-by-impairing-sign-language-development-in-deaf-children
#11
Wyatte C Hall
A long-standing belief is that sign language interferes with spoken language development in deaf children, despite a chronic lack of evidence supporting this belief. This deserves discussion as poor life outcomes continue to be seen in the deaf population. This commentary synthesizes research outcomes with signing and non-signing children and highlights fully accessible language as a protective factor for healthy development. Brain changes associated with language deprivation may be misrepresented as sign language interfering with spoken language outcomes of cochlear implants...
February 9, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28173822/an-example-of-the-utility-of-genomic-analysis-for-fast-and-accurate-clinical-diagnosis-of-complex-rare-phenotypes
#12
Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J Williams, Maria Bitner-Glindzicz
BACKGROUND: We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion, and significant developmental delay with microcephaly. We performed Chromosomal Microarray Analysis on the offspring with either the skeletal or developmental delay phenotypes, and linkage analysis and whole exome sequencing (WES) on all four children, parents and maternal aunt...
February 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28173653/-coenzyme-q-10-treatment-for-one-child-with-coq6-gene-mutation-induced-nephrotic-syndrome-and-literature-review
#13
Q Cao, G M Li, H Xu, Q Shen, L Sun, X Y Fang, H M Liu, W Guo, Y H Zhai, B B Wu
Objective: To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome, and to evaluate efficacy of CoQ(10) therapy. Method: Clinical data of the case with infantile nephrotic syndrome was summarized, including clinical manifestations, laboratory findings and family investigation. The patient received CoQ(10) 30 mg/(kg·d) therapy. Urine protein/creatinine ratio, serum albumin and creatinine were detected to assess the efficacy of the therapy. Result: (1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28167021/consideration-for-routine-outpatient-pediatric-cochlear-implantation-a-retrospective-chart-review-of-immediate-post-operative-complications
#14
Sunthosh K Sivam, Charles A Syms, Susan M King, Brian P Perry
INTRODUCTION: Cochlear implantation is well accepted as the treatment of choice for prelingual deafness in children [1]. However, the safety of routinely performing this procedure on an outpatient basis is debated. We aim to assess immediate postoperative complications that would affect a surgeon's decision to perform pediatric cochlear implantation on an outpatient basis. METHODS: A retrospective chart review was conducted which included all children 17 years old or younger who underwent cochlear implantation from 2004 to 2014 in a private neurotology practice...
March 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28167010/the-role-of-bone-conduction-hearing-aids-in-congenital-unilateral-hearing-loss-a-systematic-review
#15
REVIEW
C Carrie Liu, Devon Livingstone, Warren K Yunker
OBJECTIVES: To systematically review the literature on the audiological and/or quality of life benefits of a bone conduction hearing aid (BCHA) in children with congenital unilateral conductive or sensorineural deafness. METHODS: A systematic search was performed according to the PRISMA guidelines using the PubMed, Medline, and Embase databases. Data were collected on the following outcomes of interest: speech reception threshold, speech discrimination, sound localization, and quality of life measures...
March 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28158684/interactive-reading-with-young-deaf-and-hard-of-hearing-children-in-ebooks-versus-print-books
#16
Loes Wauters, Evelien Dirks
No abstract text is available yet for this article.
January 31, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28157062/cranial-ultrasound-findings-in-preterm-infants-predict-the-development-of-cerebral-palsy
#17
Ann Lawaetz Skovgaard, Gitte Zachariassen
INTRODUCTION: Our aim was to evaluate any association between gestational age, birth weight and findings on cranial ultrasounds during hospitalisation in very preterm infants and mortality and neurological outcome in childhood. METHOD: This study was a retrospective cohort study based on a patient record review. The cohort consisted of very preterm born children (gestational age ≤ 32 + 0) born from 2004 to 2008. For each infant, we obtained results from all cranial ultrasounds performed during hospitalisation...
February 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28152144/association-between-moderate-and-late-preterm-birth-and-neurodevelopment-and-social-emotional-development-at-age-2-years
#18
Jeanie L Cheong, Lex W Doyle, Alice C Burnett, Katherine J Lee, Jennifer M Walsh, Cody R Potter, Karli Treyvaud, Deanne K Thompson, Joy E Olsen, Peter J Anderson, Alicia J Spittle
Importance: Moderate and late preterm (MLPT) births comprise most preterm infants. Therefore, long-term developmental concerns in this population potentially have a large public health influence. While there are increasing reports of developmental problems in MLPT children, detail is lacking on the precise domains that are affected. Objective: To compare neurodevelopment and social-emotional development between MLPT infants and term-born control infants at age 2 years...
February 6, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28147578/effects-of-age-and-hearing-mechanism-on-spectral-resolution-in-normal-hearing-and-cochlear-implanted-listeners
#19
David L Horn, Daniel J Dudley, Kavita Dedhia, Kaibao Nie, Ward R Drennan, Jong Ho Won, Jay T Rubinstein, Lynne A Werner
Spectral resolution limits speech perception with a cochlear implant (CI) in post-lingually deaf adults. However, the development of spectral resolution in pre-lingually deaf implanted children is not well understood. Acoustic spectral resolution was measured as a function of age (school-age versus adult) in CI and normal-hearing (NH) participants using spectral ripple discrimination (SRD). A 3-alternative forced-choice task was used to obtain SRD thresholds at five ripple depths. Effects of age and hearing method on SRD and spectral modulation transfer function (SMTF) slope (reflecting frequency resolution) and x-intercept (reflecting across-channel intensity resolution) were examined...
January 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28132094/unilateral-hearing-loss-in-children-a-retrospective-study-and-a-review-of-the-current-literature
#20
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
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