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https://www.readbyqxmd.com/read/29330314/developmental-disability-at-school-age-and-difficulty-obtaining-follow-up-data
#1
Lex W Doyle, Peter J Anderson, Alice Burnett, Catherine Callanan, Marion McDonald, Marie Hayes, Gillian Opie, Elizabeth Carse, Jeanie L Y Cheong
BACKGROUND: The relationship of developmental disability rates with difficulty obtaining follow-up data is unclear. With this study, we aimed to determine if children who attended research follow-up assessments with more difficulty had more disability at school age, compared with those who attended with less difficulty, and to establish the relationship between follow-up and disability rates. METHODS: Two groups, comprising 219 consecutive survivors born at <28 weeks' gestation or at <1000 g birth weight in the state of Victoria, Australia, in 2005, and 218 term-born, normal birth weight controls were assessed at 8 years of age for neurodevelopmental disability (any of IQ <-1 SD, cerebral palsy, blindness, or deafness)...
January 12, 2018: Pediatrics
https://www.readbyqxmd.com/read/29289955/association-between-body-mass-index-and-dental-caries-among-special-care-female-children-in-makkah-city
#2
Nisreen Adnan Ashour, Amal Adnan Ashour, Sakeena Basha
BACKGROUND: Dental caries and obesity are multifactorial diseases with diet being a common contributory factor. OBJECTIVE: The main purpose of the present study was to investigate the association between dental caries and obesity among special care female school children in Makkah City, Saudi Arabia. DESIGN: Analytical cross-sectional study. SETTING: Special schools in Makkah City. STUDY POPULATION AND METHODS: Schools were chosen by lottery and female children were ran...
December 31, 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/29287868/germinal-mosaicism-of-pax3-mutation-caused-waardenburg-syndrome-type-i
#3
Kaitian Chen, Yuan Zhan, Xuan Wu, Ling Zong, Hongyan Jiang
OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. METHODS: Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29287867/slc52a2-mutations-cause-scabd2-phenotype-a-second-report
#4
Mojgan Babanejad, Omid Ali Adeli, Nooshin Nikzat, Maryam Beheshtian, Hakimeh Azarafra, Farnaz Sadeghnia, Marzieh Mohseni, Hossein Najmabadi, Kimia Kahrizi
INTRODUCTION: Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs are heterogeneous with respect to age at onset, severity of disease progression, and frequency of extracerebellar and systemic signs. METHODS: The phenotype of a consanguineous Iranian family was characterized using clinical testing and pedigree analysis. Whole-exome sequencing was used to identify the disease-causing gene in this family...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29287866/childhood-hearing-loss-is-a-key-feature-of-capos-syndrome-a-case-report
#5
Stéphanie Paquay, Elsa Wiame, Naima Deggouj, Antonella Boschi, Romolo Daniele De Siati, Yves Sznajer, Marie-Cécile Nassogne
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29286014/symptomatic-congenital-cytomegalovirus-deafness-the-impact-of-a-six-week-course-of-antiviral-treatment-on-hearing-improvement
#6
Fulvia Mazzaferri, Maddalena Cordioli, Michela Conti, Silvia Storato, Giorgia Be, Paolo Biban, Ercole Concia, Mara Merighi
Congenital Cytomegalovirus infection is the leading non-genetic cause of neurosensory deafness. We compared the outcomes of a treated group of children to an untreated group. The effect of antiviral therapy on hearing improvement between baseline and 2-year follow-up was statistically significant. These results suggest that the benefit of 6-week therapy is not limited to preventing further hearing deterioration.
December 1, 2017: Le Infezioni in Medicina
https://www.readbyqxmd.com/read/29285715/gene-mutations-and-clinical-phenotypes-in-15-chinese-children-with-cryopyrin-associated-periodic-syndrome-caps
#7
Caifeng Li, Xiaohua Tan, Junmei Zhang, Shipeng Li, Wenxiu Mo, Tongxin Han, Weiying Kuang, Yifang Zhou, Jianghong Deng
The aim of our study is to explore the features of clinical manifestations and genetic mutations in Chinese CAPS patients. Fifteen confirmed patients with CAPS were enrolled. The onset time ranges from 2 days after birth to 6 years and 1 month. Recurrent urticaria rash (93.3%) with fever (100%) were two dominant characteristics of these patients that were presented as either acute or chronic process. Systemic involvements were found in all patients except for one with only rash and fever. The top three symptoms were fever (100%), rash (93...
December 2, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/29277467/bladder-dysfunction-in-wolfram-syndrome-is-highly-prevalent-and-progresses-to-megacystis
#8
Ruth Wragg, Renuka P Dias, Timothy Barrett, Liam McCarthy
AIM: Wolfram syndrome is a rare genetic defect in WFS1 or WSF2(CISD2). It includes diabetes mellitus and insipidis, sensorineural deafness, optic atrophy, but not bladder dysfunction. However, this has appeared a common finding in our national referral clinic, and we sought to quantify this problem. METHODS: Data were collected from a multidisciplinary team managing all Wolfram patients in the UK. The following was analyzed: age, date of non-invasive urodynamics (NIU), symptoms, bladder capacity, voided volume, post-void residual and uroflow pattern...
November 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29276601/delayed-diagnosis-of-a-patient-with-usher-syndrome-1c-in-a-louisiana-acadian-family-highlights-the-necessity-of-timely-genetic-testing-for-the-diagnosis-and-management-of-congenital-hearing-loss
#9
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29248951/early-prelingual-auditory-development-in-italian-infants-and-toddlers-analysed-through-the-italian-version-of-the-infant-toddler-meaningful-auditory-integration-scale-it-mais
#10
S Cavicchiolo, F Mozzanica, L Guerzoni, A Murri, I Dall'Ora, F Ambrogi, S Barozzi, D Cuda, A Schindler
PURPOSE: To evaluate the reliability and validity of the Italian version of the Infant-Toddler Meaningful Auditory Integration Scale (I-IT-MAIS), and to assess the normal trajectory of early prelingual auditory (EPLAD) development from birth to 24 months in a group of normal-hearing Italian children using the I-IT-MAIS. METHODS: The study consisted of four phases: item generation, reliability analysis, assessment of the normal trajectory for EPLAD, and validity analysis...
December 16, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29238682/cochlear-implantation-in-children-with-anomalous-cochleovestibular-anatomy-our-experience
#11
Mohnish Grover, Shitanshu Sharma, Shruti Bhargava, Shashank Nath Singh, Gaurav Gupta, Man Prakash Sharma
To report operative findings, postoperative course, and postimplantation performance in patients with cochlear malformations who underwent cochlear implantation. Seventeen patients with malformations which included enlarged vestibular aqueduct (n = 6), Mondini's dysplasia (n = 5) common cavity deformity (n = 3) and incomplete partition type 2 (n = 3) underwent cochlear implantation with Nucleus 22 straight array device at our center. Operative findings described facial nerve anatomy and cerebrospinal fluid leak...
December 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/29238678/a-study-of-effect-of-consanguinity-on-cochlear-morphology-in-patients-with-congenital-bilateral-profound-sensorineural-hearing-loss
#12
Y Kavitha, K Sabarigirish, Upendra Kumar Joish, Sanjeev Saxena, Angshuman Dutta
Consanguinity has been considered as one of the risk factors predisposing to the development of congenital hearing loss. Effect of consanguinity on cochlear morphology has been subject of speculation, though many studies have provided insight into functional aspect of cochlea. This study was conducted to know the effect of consanguinity on cochlear morphology, if any. A prospective, observational study, including prelingually deaf children with bilateral profound sensorineural hearing loss who are registered as candidates for cochlear implantation at a tertiary care centre, was conducted...
December 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/29232674/speech-and-language-pathologists-voice-use-in-working-environments-a-field-study-using-ambulatory-phonation-monitoring
#13
Francesco Mozzanica, Alessandro Selvaggio, Daniela Ginocchio, Nicole Pizzorni, Letizia Scarponi, Antonio Schindler
OBJECTIVE: The aim of this study was to evaluate the speech and language pathologists' (SLPs) voice production during a typical working day. PATIENTS AND METHODS: A total of 28 SLPs, all females, were enrolled. According to the type of treated disease, the cohort of SLPs was divided into 4 groups (7 SLPs focused on the rehabilitation of dysphagic adult clients; 7 SLPs focused on the rehabilitation of deaf children; 7 SLPs focused on the rehabilitation of dysphonic adult clients; and 7 SLPs focused on the rehabilitation of aphasic adult clients)...
December 12, 2017: Folia Phoniatrica et Logopaedica
https://www.readbyqxmd.com/read/29230941/a-child-with-myhre-syndrome-presenting-with-corectopia-and-tetralogy-of-fallot
#14
Marianna Alagia, Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Raffaella Brunetti-Pierri, Francesca Simonelli, Giuseppe Limongelli, Guido Oppido, Vincenzo Nigro, Nicola Brunetti-Pierri
Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Therefore, the diagnosis of this syndrome in the first years of life is challenging...
December 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29227442/what-is-the-sensitive-period-to-initiate-auditory-stimulation-for-the-second-ear-in-sequential-cochlear-implantation
#15
Hong Ju Park, Jee Yeon Lee, Chan Joo Yang, Jun Woo Park, Byung Chul Kang, Woo Seok Kang, Joong Ho Ahn, Jong Woo Chung
OBJECTIVES: Bilateral cochlear implants (CI) are the standard treatment for bilaterally deaf children, but it is unclear how much the second CI can be delayed in sequential bilateral CI. We investigated the performances of sequential CI to answer this question. STUDY DESIGN: Retrospective case series review. SETTING: Tertiary referral center. METHODS: We studied a cohort of congenitally deaf children (n = 73) who underwent sequential CI without any inner ear anomaly or combined disabilities...
December 7, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29224769/evaluation-of-speech-reception-threshold-in-noise-in-young-cochlear%C3%A2-nucleus%C3%A2-system-6-implant-recipients-using-two-different-digital-remote-microphone-technologies-and-a-speech-enhancement-sound-processing-algorithm
#16
Sergio Razza, Monica Zaccone, Aannalisa Meli, Eliana Cristofari
OBJECTIVE: Children affected by hearing loss can experience difficulties in challenging and noisy environments even when deafness is corrected by Cochlear implant (CI) devices. These patients have a selective attention deficit in multiple listening conditions. At present, the most effective ways to improve the performance of speech recognition in noise consists of providing CI processors with noise reduction algorithms and of providing patients with bilateral CIs. The aim of this study was to compare speech performances in noise, across increasing noise levels, in CI recipients using two kinds of wireless remote-microphone radio systems that use digital radio frequency transmission: the Roger Inspiro accessory and the Cochlear Wireless Mini Microphone accessory...
December 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29210952/survey-of-the-american-neurotology-society-on-cochlear-implantation-part-1-candidacy-assessment-and-expanding-indications
#17
Matthew L Carlson, Douglas P Sladen, Richard K Gurgel, Nicole M Tombers, Christine M Lohse, Colin L Driscoll
OBJECTIVE: To examine practice variance of cochlear implant candidacy assessment and off-label indications across centers in the United States. METHODS: Cross-sectional survey of the American Neurotology Society (ANS). RESULTS: A total of 81 surveys were returned from ANS members who report regular involvement in cochlear implant care. Overall there was a broad distribution in age and clinical experience, with most respondents reporting ACGME accreditation in neurotology and employment at an academic center...
November 28, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29209697/false-belief-development-in-children-who-are-hard-of-hearing-compared-with-peers-with-normal-hearing
#18
Elizabeth A Walker, Sophie E Ambrose, Jacob Oleson, Mary Pat Moeller
Purpose: This study investigates false belief (FB) understanding in children who are hard of hearing (CHH) compared with children with normal hearing (CNH) at ages 5 and 6 years and at 2nd grade. Research with this population has theoretical significance, given that the early auditory-linguistic experiences of CHH are less restricted compared with children who are deaf but not as complete as those of CNH. Method: Participants included CHH and CNH who had completed FB tasks as part of a larger multicenter, longitudinal study on outcomes of children with mild-to-severe hearing loss...
December 6, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/29207797/audit-of-organic-acidurias-from-a-single-centre-clinical-and-metabolic-profile-at-presentation-with-long-term-outcome
#19
Seema Pavaman Sindgikar, Krithika Damodar Shenoy, Nutan Kamath, Rathika Shenoy
Introduction: Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported. Aim: To study the clinical and metabolic presentation, management with immediate and long term outcome of symptomatic children with confirmed OA. Materials and Methods: Hospital based study of symptomatic children diagnosed to have OA between 2003 and 2009 and the survivors followed up over next five years...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29203800/cortical-organization-restored-by-cochlear-implantation-in-young-children-with-single-sided-deafness
#20
Melissa Jane Polonenko, Karen Ann Gordon, Sharon Lynn Cushing, Blake Croll Papsin
Early treatment of single sided deafness in children has been recommended to protect from neurodevelopmental preference for the better hearing ear and from social and educational deficits. A fairly homogeneous group of five young children (≤3.6 years of age) with normal right sided hearing who received a cochlear implant to treat deafness in their left ears were studied. Etiology of deafness was largely cytomegalovirus (n = 4); one child had an enlarged vestibular aqueduct. Multi-channel electroencephalography of cortical evoked activity was measured repeatedly over time at: 1) acute (0...
December 4, 2017: Scientific Reports
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