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https://www.readbyqxmd.com/read/28632987/the-usher-syndrome-type-iiib-histidyl-trna-synthetase-mutation-confers-temperature-sensitivity
#1
Jamie A Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M Siu, Charles Anthony Rupar, Borries Demeler, Christopher S Francklyn, Susan M Robey-Bond
Histidyl-tRNA synthetase (HARS) is a highly conserved translation factor that plays an essential role in protein synthesis. HARS has been implicated in the human syndromes Charcot-Marie-Tooth (CMT) Type 2W and Type IIIB Usher (USH3B). The USH3B mutation, which encodes an Y454S substitution in HARS, is inherited in an autosomal recessive fashion and associated with childhood deafness, blindness and episodic hallucinations during acute illness. The biochemical basis of the pathophysiologies linked to USH3B is currently unknown...
June 20, 2017: Biochemistry
https://www.readbyqxmd.com/read/28626432/visible-social-interactions-do-not-support-the-development-of-false-belief-understanding-in-the-absence-of-linguistic-input-evidence-from-deaf-adult-homesigners
#2
Deanna L Gagne, Marie Coppola
Congenitally deaf individuals exhibit enhanced visuospatial abilities relative to normally hearing individuals. An early example is the increased sensitivity of deaf signers to stimuli in the visual periphery (Neville and Lawson, 1987a). While these enhancements are robust and extend across a number of visual and spatial skills, they seem not to extend to other domains which could potentially build on these enhancements. For example, congenitally deaf children, in the absence of adequate language exposure and acquisition, do not develop typical social cognition skills as measured by traditional Theory of Mind tasks...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28623039/the-acoustic-characteristics-of-the-voice-in-cochlear-implanted-children-a-longitudinal-study
#3
Yajing Wang, Faya Liang, Jinshan Yang, Xueyuan Zhang, Jiahao Liu, Yiqing Zheng
OBJECTIVE: The purpose of this study was to characterize changes in the voice and vowel articulation of prelingually deaf children after cochlear implantation. METHODS: In this study, the patient group included 30 prelingually deaf children who underwent unilateral cochlear implantation at 4-6 years of age. The control group included normally hearing children of the same age. All deaf children had follow-ups before cochlear implantation and at 1, 3, 6, 12, and 24 months after implantation...
June 13, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28619607/revisiting-syntactic-development-in-deaf-and-hearing-children-from-a-dependency-approach-comment-on-dependency-distance-a-new-perspective-on-syntactic-patterns-in-natural-languages-by-haitao-liu-et-al
#4
https://www.readbyqxmd.com/read/28618809/binaural-sensitivity-in-children-who-use-bilateral-cochlear-implants
#5
Erica Ehlers, Matthew J Goupell, Yi Zheng, Shelly P Godar, Ruth Y Litovsky
Children who are deaf and receive bilateral cochlear implants (BiCIs) perform better on spatial hearing tasks using bilateral rather than unilateral inputs; however, they underperform relative to normal-hearing (NH) peers. This gap in performance is multi-factorial, including the inability of speech processors to reliably deliver binaural cues. Although much is known regarding binaural sensitivity of adults with BiCIs, less is known about how the development of binaural sensitivity in children with BiCIs compared to NH children...
June 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28609304/suprameatal-cochlear-implantation-in-a-charge-patient-with-a-novel-chd7-variant-and-kallmann-syndrome-phenotype-a-case-report
#6
Akira Ganaha, Tetsuya Tono, Tadashi Kaname, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Hiroyuki Maeda, Mikio Suzuki
OBJECTIVE: We present the clinical findings, technique of the suprameatal cochlear implantation, postoperative auditory results, and genetic analysis of the CHD7 gene. PATIENT: A 19-year-old Japanese woman was referred because of progressive hearing loss since early childhood. She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, heart defect, choanal atresia, genital hypoplasia, and deafness, which was diagnosed as CHARGE syndrome...
June 12, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28607883/evaluation-of-requirements-for-staging-the-procedure-of-reconstruction-of-middle-ear-after-canal-wall-down-mastoidectomy
#7
C Ravishankar, R K Datta
Cholesteatoma is a progressive destructive ear disease which can affect any age group. It has been found to be more severe in children and young adults. It erodes the surrounding bone of middle ear, mastoid and ossicles. It causes partial to total deafness, unpleasant smelling discharge, pain, tinnitus, vertigo and facial paralysis. It can even cause meningitis, brain abscess and death. The post-operative outcome of hearing, and the state of the reconstructed middle-ear cavity after concurrent and staged reconstruction of middle ear after canal wall down mastoidectomy was studied in 30 ears with middle-ear cholesteatoma...
June 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28604578/long-term-outcomes-of-cochlear-implantation-in-children-with-congenital-cytomegalovirus-infection
#8
Haruo Yoshida, Haruo Takahashi, Yukihiko Kanda, Kyoko Kitaoka, Minoru Hara
OBJECTIVE: To investigate the role of the developmental delay often observed in children with congenital cytomegalovirus (CMV) infection on the improvement of language understanding after cochlear implantation (CI). STUDY DESIGN: Retrospective chart review. PATIENTS: Sixteen children with severe and/or profound hearing loss due to congenital CMV infection (CMV group) and 107 congenitally deaf children (168 ears) without CMV infection as the cause of deafness (non-CMV group)...
June 9, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28593889/circonscript-subcutaneous-arteriovenous-malformation-of-the-head
#9
Vladimir Mirchevski, Elizabeta Zogovska, Aleksandar Chaparoski, Venko Filipce, Milenko Kostov, Mirko Mishel Mirchevski
The aim of this study is to show the various possibilities to treat this rare malformation, accentuating the results of the early surgical treatment before complications. MATERIAL: The authors present 8 cases of patients with subcutaneous arteriovenous malformations, 5 females and 3 males (age of 7, 13, 19, 23, 27, 52 and 58 years) treated in the period of 1999 until 2015 at the Clinic for Neurosurgery and the Clinic for Plastic, Aesthetic and Reconstructive Surgery in Skopje, Republic of Macedonia...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28586822/sign-language-echolalia-in-deaf-children-with-autism-spectrum-disorder
#10
Aaron Shield, Frances Cooley, Richard P Meier
Purpose: We present the first study of echolalia in deaf, signing children with autism spectrum disorder (ASD). We investigate the nature and prevalence of sign echolalia in native-signing children with ASD, the relationship between sign echolalia and receptive language, and potential modality differences between sign and speech. Method: Seventeen deaf children with ASD and 18 typically developing (TD) deaf children were video-recorded in a series of tasks. Data were coded for type of signs produced (spontaneous, elicited, echo, or nonecho repetition)...
June 5, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28586433/speech-intelligibility-and-psychosocial-functioning-in-deaf-children-and-teens-with-cochlear-implants
#11
Valerie Freeman, David B Pisoni, William G Kronenberger, Irina Castellanos
Deaf children with cochlear implants (CIs) are at risk for psychosocial adjustment problems, possibly due to delayed speech-language skills. This study investigated associations between a core component of spoken-language ability-speech intelligibility-and the psychosocial development of prelingually deaf CI users. Audio-transcription measures of speech intelligibility and parent reports of psychosocial behaviors were obtained for two age groups (preschool, school-age/teen). CI users in both age groups scored more poorly than typically hearing peers on speech intelligibility and several psychosocial scales...
July 1, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28586425/mothers-of-deaf-children-in-the-21st-century-dynamic-positioning-between-the-medical-and-cultural-linguistic-discourses
#12
Liesbeth Matthijs, Stefan Hardonk, Jasmina Sermijn, Martine Van Puyvelde, Greg Leigh, Mieke Van Herreweghe, Gerrit Loots
Traditional research examining the communicational choices made by families with deaf children tends to emanate from the premise that families engage with either of the two grand discourses on deafness (i.e., the medical or cultural-linguistic perspective). This study investigated hearing mother's engagement with the educational options for their child from a dynamic, poststructural perspective. Three Flemish mothers were interviewed in-depth at the child's ages of 6, 9, 12, 18, and 24 months. The data were analyzed within a theoretical model that describes the positioning process of the mothers...
June 6, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28585603/etiological-and-epidemiological-factors-in-hearing-impaired-students-in-van-east-of-turkey-a-case-series
#13
Ahmet Faruk Kiroglu, Muzaffer Ari, Nazim Bozan, Mehmet Parlak, Hakan Cankaya
The aim of the present case series was to investigate the causes of hearing loss in the children studying at a primary School for the deaf in Van Province, Turkey. The present series included 95 children with sensorineural hearing loss. Otoscopic and ophthalmological examinations, pure-tone audiometry, and tympanometry were performed for each patient. Measles IgG, rubella IgG, cytomegalovirus (CMV) IgG, toxoplasma IgG, herpes simplex virus (HSV) Type I (HSV-I) IgG, HSV Type II (HSV-II) IgG, and Mycoplasma pneumonia IgG were evaluated in serum samples...
June 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28585081/mental-health-assessed-by-the-strengths-and-difficulties-questionnaire-for-children-born-extremely-preterm-without-severe-disabilities-at-11%C3%A2-years-of-age-a-norwegian-national-population-based-study
#14
Silje Katrine Elgen Fevang, Mari Hysing, Kristian Sommerfelt, Irene Elgen
The aims were to investigate mental health problems with the Strength and Difficulties Questionnaire (SDQ) in children born extremely preterm/extremely low birth weight (EP/ELBW) without severe disabilities compared to controls, and to identify peri-, or neonatal factors possibly predicting later mental health problems. A national Norwegian cohort of 11-year-old EP/ELBW children, excluding those with intellectual disabilities, non-ambulatory cerebral palsy, blindness and/or deafness, was assessed. Parents and teachers completed the SDQ...
June 5, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28576534/using-click-evoked-auditory-brainstem-response-thresholds-in-infants-to-estimate-the-corresponding-pure-tone-audiometry-thresholds-in-children-referred-from-unhs
#15
Tsun-Min Lu, Fang-Wei Wu, Hsiuwen Chang, Hung-Ching Lin
OBJECTIVE: To examine whether behavioral pure-tone audiometry (PTA) thresholds in children can be accurately estimated from the corresponding infants' click-evoked auditory brainstem response (ABR) thresholds through a retrospective review of data from a universal newborn hearing screening (UNHS) program in Taiwan. METHOD: According to medical records from Mackay Memorial Hospital, Taipei Hospital District, 45,450 newborns received hearing screening during January 1999-December 2011...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28575919/zika-virus-infection-in-pregnant-women-and-microcephaly
#16
Geraldo Duarte, Antonio Fernandes Moron, Artur Timerman, César Eduardo Fernandes, Corintio Mariani Neto, Gutemberg Leão de Almeida Filho, Heron Werner Junior, Hilka Flavia Barra do Espírito Santo, João Alfredo Piffero Steibel, João Bortoletti Filho, Juvenal Barreto Borriello de Andrade, Marcelo Burlá, Marcos Felipe Silva de Sá, Newton Eduardo Busso, Paulo César Giraldo, Renato Augusto Moreira de Sá, Renato Passini Junior, Rosiane Mattar, Rossana Pulcineli Vieira Francisco
From the discovery of the Zika virus (ZIKV) in 1947 in Uganda (Africa), until its arrival in South America, it was not known that it would affect human reproductive life so severely. Today, damage to the central nervous system is known to be multiple, and microcephaly is considered the tip of the iceberg. Microcephaly actually represents the epilogue of this infection's devastating process on the central nervous system of embryos and fetuses. As a result of central nervous system aggression by the ZIKV, this infection brings the possibility of arthrogryposis, dysphagia, deafness and visual impairment...
May 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28575479/the-effect-of-word-frequency-on-phonemic-accuracy-in-children-with-cochlear-implants-and-peers-with-typical-levels-of-hearing
#17
Jolien Faes, Joris Gillis, Steven Gillis
The frequency of occurrence of words and sounds has a pervasive influence on typically developing children's language acquisition. For instance, highly frequent words appear earliest in a child's lexicon, and highly frequent phonemes are produced more accurately. This study evaluates (a) whether word frequency influences word accuracy and (b) whether this is also the case for children with a history of auditory deprivation. More specifically, the influence of word frequency on phonemic accuracy is examined in deaf children with a cochlear implant (CI), and compared to age-matched children with typical hearing, between word onset and age 7...
July 1, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28557672/the-road-to-language-learning-is-not-entirely-iconic-iconicity-neighborhood-density-and-frequency-facilitate-acquisition-of-sign-language
#18
Naomi K Caselli, Jennie E Pyers
Iconic mappings between words and their meanings are far more prevalent than once estimated and seem to support children's acquisition of new words, spoken or signed. We asked whether iconicity's prevalence in sign language overshadows two other factors known to support the acquisition of spoken vocabulary: neighborhood density (the number of lexical items phonologically similar to the target) and lexical frequency. Using mixed-effects logistic regressions, we reanalyzed 58 parental reports of native-signing deaf children's productive acquisition of 332 signs in American Sign Language (ASL; Anderson & Reilly, 2002) and found that iconicity, neighborhood density, and lexical frequency independently facilitated vocabulary acquisition...
May 1, 2017: Psychological Science
https://www.readbyqxmd.com/read/28557278/auditory-access-language-access-and-implicit-sequence-learning-in-deaf-children
#19
Matthew L Hall, Inge-Marie Eigsti, Heather Bortfeld, Diane Lillo-Martin
Developmental psychology plays a central role in shaping evidence-based best practices for prelingually deaf children. The Auditory Scaffolding Hypothesis (Conway et al., 2009) asserts that a lack of auditory stimulation in deaf children leads to impoverished implicit sequence learning abilities, measured via an artificial grammar learning (AGL) task. However, prior research is confounded by a lack of both auditory and language input. The current study examines implicit learning in deaf children who were (Deaf native signers) or were not (oral cochlear implant users) exposed to language from birth, and in hearing children, using both AGL and Serial Reaction Time (SRT) tasks...
May 30, 2017: Developmental Science
https://www.readbyqxmd.com/read/28542017/children-with-single-sided-deafness-use-their-cochlear-implant
#20
Melissa Jane Polonenko, Blake Croll Papsin, Karen Ann Gordon
OBJECTIVES: To assess acceptance of a cochlear implant (CI) by children with single-sided deafness (SSD) as measured by duration of CI use across daily listening environments. DESIGN: Datalogs for 7 children aged 1.1 to 14.5 years (mean ± SD: 5.9 ± 5.9 years old), who had SSD and were implanted in their deaf ear, were anonymized and extracted from their CI processors. Data for all available follow-up clinical appointments were included, ranging from two to six visits...
May 24, 2017: Ear and Hearing
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