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https://www.readbyqxmd.com/read/27900753/-issues-related-to-screening-and-caring-for-newborns-with-hearing-impairments
#1
Mei-Show Liou, Ying Tsao
The critical period for auditory development in humans begins at around the 20th gestational week and continues until 3 years of age. Both genetic and environmental factors are known to cause impaired hearing. Without early identification and intervention, hearing-impaired children face a high risk of experiencing significant difficulties with speech and language development, social behavior, and emotional functioning. Two types of commonly used hearing screening technologies include transient evoked otoacoustic emission (TEOAE) and automated auditory brainstem response (aABR)...
December 2016: Hu Li za Zhi the Journal of Nursing
https://www.readbyqxmd.com/read/27894440/when-autistic-behavior-suggests-a-disease-other-than-classic-autism
#2
REVIEW
Mark D Simms
Most neurodevelopmental disorders are defined by their clinical symptoms and many disorders share common features. Recently there has been an increase in the number of children diagnosed with autism spectrum disorder, although concerns have been raised about the accuracy of the reported prevalence rates. This article reviews the essential features of autism spectrum disorder and describes other conditions that may include similar symptoms that may be misdiagnosed as autism spectrum disorder (primary communication disorders, anxiety disorders, attachment disorders, intellectual disability, vision and hearing impairment, and normal variations)...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27891365/visual-function-and-ocular-status-in-children-with-disabilities-in-special-schools-of-northern-india
#3
Gurvinder Kaur, Satish Thomas, Mahesh Jindal, S M Bhatti
INTRODUCTION: Children with disabilities (other than visual impairment) are at a higher risk of visual impairment as compared to normal population. Majority of the ocular disorders, like refractive errors and strabismus, are easily treatable. As these children depend on their visual inputs for social and academic activities, an early detection and prompt treatment of even a minor visual problem is of utmost importance for them. AIM: To assess the visual function and ocular status of children with disabilities other than visual impairment and to identify the preventable and treatable causes of visual impairment...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27871115/abnormal-proteoglycan-synthesis-due-to-gene-defects-causes-skeletal-diseases-with-overlapping-phenotypes
#4
F Taylan, O Mäkitie
In recent years, massively parallel sequencing technologies have helped us to identify novel disease genes and solve the mysteries behind rare diseases. Today, we know that some diseases with many overlapping and distinct clinical features, as presented in this review, can be caused by mutations in genes that encode enzymes playing crucial roles at different steps of the exact same pathway. In this review, we exclusively focused on 5 genes - XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 - that encode enzymes involved in the biosynthesis of the common tetrasaccharide linker region of proteoglycans and review the associated diseases, also referred to as linkeropathies, by summarizing the cases reported in literature...
November 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27867345/language-impairment-resulting-from-a-de-novo-deletion-of-7q32-1q33
#5
María S Jiménez-Romero, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Antonio Benítez-Burraco
We report on a girl who presents with hearing loss, behavioral disturbances (according to the Inventory for Client and Agency Planning) as well as motor and cognitive delay (according to Battelle Developmental Inventories) which have a significant impact on her speech and language abilities [according to the Peabody Picture Vocabulary Test (ed 3), and the Prueba de Lenguaje Oral de Navarra-Revisada (Navarra Oral Language Test, Revised)]. Five copy number variations (CNVs) were identified in the child: arr[hg18] 7q32...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27865551/objective-voice-analysis-of-pediatric-cochlear-implant-recipients-and-comparison-with-hearing-aids-users-and-hearing-controls
#6
Narges Jafari, Farzad Izadi, Abolfazl Salehi, Payman Dabirmoghaddam, Fariba Yadegari, Abbas Ebadi, Saeed Talebian Moghadam
OBJECTIVES: Phonation is influenced by hearing as a feedback mechanism. The purpose of the present study was to compare selected acoustic parameters in children using cochlear implants (CIs), those using hearing aids (HA), and their normal-hearing (NH) peers. METHODS: The participants were 15 children using CI (mean age: 72 months), 15 children using HA (mean age: 74 months), and 15 NH children (mean age: 77 months). The vowel /a/ was produced to measure perturbation and mean fundamental frequency...
November 16, 2016: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/27863634/predictors-of-flourishing-among-children-with-hearing-loss
#7
Laura Nabors, Cathleen Odar Stough, Ashley Merianos, James Peugh
OBJECTIVES: To examine parent report of flourishing in children with hearing impairments compared to children without hearing impairments, and to explore whether school engagement and bullying related to child flourishing. METHODS: Participants were 655 children with hearing impairments and 44, 618 children without hearing impairments who were 10-17 years of age. Caregivers completed telephone interviews about their child's functioning for the National Survey of Children's Health...
December 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27818401/recognizing-the-needs-of-families-of-children-and-youth-who-are-deafblind
#8
Silvia M Correa-Torres, Sandy K Bowen
Research on deafblindness and families is scant. The few available studies, in combination with research in the areas of visual impairment, hearing impairment, and significant support needs, help paint a picture of the services and other assistance required by families, including siblings of a child with deafblindness. In the present article, the authors synthetize the literature related to families of students who are deafblind and the supports needed by these families. The article also addresses the impact of the diagnosis on the family, supports needed by the family, including the contributions of siblings of the child who is deafblind, and considerations of cultural, linguistic, and economic diversity within the deafblind population...
2016: American Annals of the Deaf
https://www.readbyqxmd.com/read/27816256/vocabulary-development-in-mandarin-speaking-children-with-cochlear-implants-and-its-relationship-with-speech-perception-abilities
#9
Yuan Chen, Lena L N Wong, Shufeng Zhu, Xin Xi
BACKGROUND: China has the largest population of children with hearing impairments and cochlear implantation is gaining popularity there. However, the vocabulary development in this population is largely unexplored. AIMS: This study examined early vocabulary outcomes, factors influencing early vocabulary development and the relationship between speech perception and vocabulary development in Mandarin-speaking children during the first year of cochlear implant use...
November 2, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27809640/loss-of-functional-osteoprotegerin-more-than-a-skeletal-problem
#10
Corinna Grasemannn, Nicole Unger, Matthias Hövel, Diana Arweiler-Harbeck, Ralf Herrmann, Michael M Schündeln, Oliver Müller, Bernd Schweiger, Ekkehart Lausch, Thomas Meissner, Cordula Kiewert, Berthold P Hauffa, Nick J Shaw
INTRODUCTION: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional osteoprotegerin (OPG) is caused by recessive mutations in TNFRSF11B. A genotype-phenotype correlation spanning from mild to very severe forms is described. AIM: To describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carriers for clinical signs of JPD...
November 3, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27787394/toward-automated-cochlear-implant-fitting-procedures-based-on-event-related-potentials
#11
Mareike Finke, Martin Billinger, Andreas Büchner
OBJECTIVES: Cochlear implants (CIs) restore hearing to the profoundly deaf by direct electrical stimulation of the auditory nerve. To provide an optimal electrical stimulation pattern the CI must be individually fitted to each CI user. To date, CI fitting is primarily based on subjective feedback from the user. However, not all CI users are able to provide such feedback, for example, small children. This study explores the possibility of using the electroencephalogram (EEG) to objectively determine if CI users are able to hear differences in tones presented to them, which has potential applications in CI fitting or closed loop systems...
October 26, 2016: Ear and Hearing
https://www.readbyqxmd.com/read/27783797/quality-of-life-related-factors-for-parents-of-children-with-hearing-loss
#12
Cristhiene Montone Nunes Ramires, Fátima Cristina Alves Branco-Barreiro, Érica Toledo Piza Peluso
Hearing loss among children, particularly those with severe and profound hearing impairment, has an effect on their communication and development, which in turn can have a significant impact on their parents. This study aimed to evaluate the quality of life of parents of children with hearing loss and identify the associated factors. A cross-sectional study was carried out involving parents of children that went through phonoaudiological therapy at a public university clinic in the city of São Paulo. The research instruments used were: the World Health Organization Quality of Life Instrument, Short Form (WHOQOL-bref), the Social Support Questionnaire 6 (SSQ-6) and the General Health Questionnaire (GHQ-12)...
October 2016: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/27761875/saving-deaf-children-screening-for-hearing-loss-as-a-public-interest-case
#13
Sigrid Bosteels, Michel Vandenbroeck, Geert Van Hove
New-born screening programs for congenital disorders and chronic disease are expanding worldwide and children "at risk" are identified by nationwide tracking systems at the earliest possible stage. These practices are never neutral and raise important social and ethical questions. An emergent concern is that a reflexive professionalism should interrogate the ever earlier interference in children's lives. The Flemish community of Belgium was among the first to generalize the screening for hearing loss in young children and is an interesting case to study the public justification of early interventions for families with deaf children...
October 19, 2016: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/27758929/determinants-of-developmental-outcomes-in-a-very-preterm-canadian-cohort
#14
Anne Synnes, Thuy Mai Luu, Diane Moddemann, Paige Church, David Lee, Michael Vincer, Marilyn Ballantyne, Annette Majnemer, Dianne Creighton, Junmin Yang, Reginald Sauve, Saroj Saigal, Prakesh Shah, Shoo K Lee
OBJECTIVES: Identify determinants of neurodevelopmental outcome in preterm children. METHODS: Prospective national cohort study of children born between 2009 and 2011 at <29 weeks gestational age, admitted to one of 28 Canadian neonatal intensive care units and assessed at a Canadian Neonatal Follow-up Network site at 21 months corrected age for cerebral palsy (CP), visual, hearing and developmental status using the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III)...
October 6, 2016: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/27749751/unilateral-hearing-loss-is-associated-with-impaired-balance-in-children-a-pilot-study
#15
Nikolaus E Wolter, Sharon L Cushing, Luis D Vilchez Madrigal, Adrian L James, Jennifer Campos, Blake C Papsin, Karen A Gordon
OBJECTIVE: To determine if children with unilateral sensorineural hearing loss (UHL) demonstrate impaired balance compared with their normal hearing (NH) peers. STUDY DESIGN: Prospective, case-control study. METHODS: Balance was assessed in14 UHL and 14 NH children using the Bruininks-Oseretsky Test-2 (BOT-2) and time to fall (TTF) in an immersive, virtual-reality laboratory. Postural control was quantified by center of pressure (COP) using force plates...
December 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27743452/the-combination-of-vestibular-impairment-and-congenital-sensorineural-hearing-loss-predisposes-patients-to-ocular-anomalies-including-usher-syndrome
#16
Stephanie Kletke, Vaishnavi Batmanabane, Tianyang Dai, Ajoy Vincent, Shuning Li, Karen A Gordon, Blake C Papsin, Sharon L Cushing, Elise Héon
The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having Usher syndrome. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was done to determine the ocular phenotype...
October 15, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27733282/global-regional-and-national-incidence-prevalence-and-years-lived-with-disability-for-310-diseases-and-injuries-1990-2015-a-systematic-analysis-for-the-global-burden-of-disease-study-2015
#17
COMMENT
(no author information available yet)
BACKGROUND: Non-fatal outcomes of disease and injury increasingly detract from the ability of the world's population to live in full health, a trend largely attributable to an epidemiological transition in many countries from causes affecting children, to non-communicable diseases (NCDs) more common in adults. For the Global Burden of Diseases, Injuries, and Risk Factors Study 2015 (GBD 2015), we estimated the incidence, prevalence, and years lived with disability for diseases and injuries at the global, regional, and national scale over the period of 1990 to 2015...
October 8, 2016: Lancet
https://www.readbyqxmd.com/read/27729143/myringoplasty-in-children
#18
Noa Rozendorn, Michael Wolf, Arkadi Yakirevich, Yisgav Shapira, Eldar Carmel
BACKGROUND: Tympanic membrane perforation (TMP) may be caused by acute and chronic otitis media, trauma and iatrogenic reasons. The goal of myringoplasty is to achieve a dry, self-cleansing ear with intact TM while preserving hearing. Literature review of myringoplasty outcome demonstrates results with different success rates and affecting factors. OBJECTIVES: The aim of this study was to evaluate TMP closure (TMPC) rate and hearing improvement and to assess the effect of clinical and surgical parameters on residual and recurrent perforation...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27729128/sensory-deprivation-due-to-otitis-media-episodes-in-early-childhood-and-its-effect-at-later-age-a-psychoacoustic-and-speech-perception-measure
#19
Hemanth Narayan Shetty, Vishal Koonoor
BACKGROUND: Past research has reported that children with repeated occurrences of otitis media at an early age have a negative impact on speech perception at a later age. The present study necessitates documenting the temporal and spectral processing on speech perception in noise from normal and atypical groups. OBJECTIVES: The present study evaluated the relation between speech perception in noise and temporal; and spectral processing abilities in children with normal and atypical groups...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27729126/novel-compound-heterozygous-mutations-in-slc26a4-gene-in-a-chinese-han-family-with-enlarged-vestibular-aqueduct
#20
Mingming Wang, Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Zhaomin Fan, Qian Sun, Xiaohui Bai, Haibo Wang
OBJECTIVE: To identify the disease-related SLC26A4 mutants in a Chinese Han pedigree associated with Enlarged vestibular aqueduct (EVA). METHODS: EVA diagnosis was based on the family history, clinical examinations, systematically audiometric evaluations, high-resolution computed tomography (HRCT) of the temporal bone, and magnetic resonance imaging (MRI) of inner ear. Sanger sequencing and mutation analysis of the SLC26A4 gene were performed in all members of this family to identify the disease-related SLC26A4 mutants...
November 2016: International Journal of Pediatric Otorhinolaryngology
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