keyword
MENU ▼
Read by QxMD icon Read
search

pediatric deaf

keyword
https://www.readbyqxmd.com/read/27898605/initial-results-of-a-safety-and-feasibility-study-of-auditory-brainstem-implantation-in-congenitally-deaf-children
#1
Eric P Wilkinson, Laurie S Eisenberg, Mark D Krieger, Marc S Schwartz, Margaret Winter, Jamie L Glater, Amy S Martinez, Laurel M Fisher, Robert V Shannon
OBJECTIVE: To determine the safety and feasibility of the auditory brainstem implant (ABI) in congenitally deaf children with cochlear aplasia and/or cochlear nerve deficiency. STUDY DESIGN: Phase I feasibility clinical trial of surgery in 10 children, ages 2 to 5 years, over a 3-year period. SETTING: Tertiary children's hospital and university-based pediatric speech/language/hearing center. INTERVENTION(S): ABI implantation and postsurgical programming...
November 24, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27886419/functional-characterization-of-a-novel-loss-of-function-mutation-of-prps1-related-to-early-onset-progressive-nonsyndromic-hearing-loss-in-koreans-dfnx1-potential-implications-on-future-therapeutic-intervention
#2
So Young Kim, Ah Reum Kim, Nayoung K D Kim, Chung Lee, Jin Hee Han, Min Young Kim, Eun-Hee Jeon, Woong-Yang Park, Rahul Mittal, Denise Yan, Xue Zhong Liu, Byung Yoon Choi
BACKGROUND: The symptoms of phosphoribosyl pyrophosphate synthetase 1 (PRPS1) deficiency diseases have been reported to be alleviated by medication. Herein, we report biochemical data to favor PRPS1 deficiency-related hearing loss as a potential target for pharmaceutical treatment. METHODS: We recruited 42 probands from subjects under the age of 15 years with a moderate degree of nonsyndromic autosomal-recessive or sporadic sensorineural hearing loss (SNHL) in at least one side...
November 25, 2016: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27875026/disseminated-bcg-pneumonitis-revealing-severe-combined-immunodeficiencyxs-in-charge-syndrome
#3
Hyung Young Kim, Yoo-Mi Kim, Hee Ju Park
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27818398/early-identification-of-infants-and-toddlers-with-deafblindness
#4
Tanni L Anthony
Data from the 2014 National Center on Deaf-Blindness Count show that fewer than 100 infants and toddlers are currently identified with deaf-blindness across the United States and that identification rates for this population vary greatly from state to state. The author presents a key rationale for timely and accurate identification of early-onset deafblindness and of the challenges involved in current early identification practices. Health and educational providers play a vital role in efforts to understand the impact of deafblindness on early development, high-risk conditions, and diagnoses associated with pediatric deafblindness, as well as the warning signs of early-onset hearing and vision loss...
2016: American Annals of the Deaf
https://www.readbyqxmd.com/read/27785406/genetic-and-clinical-analysis-of-nonsyndromic-hearing-impairment-in-pediatric-and-adult-cases
#5
J Xing, X Liu, Y Tian, J Tan, H Zhao
Previous studies have linked GJB2 gene and mitochondrial DNA (mtDNA) mutations to nonsyndromic hearing impairment (NSHI), but no study in China has yet investigated these mutations across all age groups. To fill the gap, this study ascertained 263 patients with NSHI between ages 2 months and 60 years and analyzed the presence of GJB2 gene and mtDNA A1555G/C1494T mutations by polymerase chain reaction (PCR) and DNA sequencing. A total of 20 types of mutations were detected for the GJB2 gene. The GJB2 gene and mtDNA A1555G/C1494T mutations were detected in 18...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27755356/initial-operative-experience-and-short-term-hearing-preservation-results-with-a-mid-scala-cochlear-implant-electrode-array
#6
Maja Svrakic, J Thomas Roland, Sean O McMenomey, Mario A Svirsky
OBJECTIVE: To describe our initial operative experience and hearing preservation results with the Advanced Bionics (AB) Mid Scala Electrode (MSE). STUDY DESIGN: Retrospective review. SETTING: Tertiary referral center. PATIENTS: Sixty-three MSE implants in pediatric and adult patients were compared with age- and sex-matched 1j electrode implants from the same manufacturer. All patients were severe to profoundly deaf. INTERVENTION: Cochlear implantation with either the AB 1j electrode or the AB MSE...
December 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27716925/auditory-brainstem-implant-program-development
#7
Marc S Schwartz, Eric P Wilkinson
OBJECTIVE: Auditory brainstem implants (ABIs), which have previously been used to restore auditory perception to deaf patients with neurofibromatosis type 2 (NF2), are now being utilized in other situations, including treatment of congenitally deaf children with cochlear malformations or cochlear nerve deficiencies. Concurrent with this expansion of indications, the number of centers placing and expressing interest in placing ABIs has proliferated. Because ABI placement involves posterior fossa craniotomy in order to access the site of implantation on the cochlear nucleus complex of the brainstem and is not without significant risk, we aim to highlight issues important in developing and maintaining successful ABI programs that would be in the best interests of patients...
September 26, 2016: Laryngoscope
https://www.readbyqxmd.com/read/27688594/the-p1-biomarker-for-assessing-cortical-maturation-in-pediatric-hearing-loss-a-review
#8
Anu Sharma, Hannah Glick, Emily Deeves, Erin Duncan
We review evidence for a high degree of neuroplasticity of the central auditory pathways in early childhood, citing evidence of studies of the P1 and N1 cortical auditory evoked potentials in congenitally deaf children receiving cochlear implants at different ages during childhood, children with auditory neuropathy spectrum disorder and children with hearing loss and comorbid multiple disabilities. We discuss neuroplasticity, including cortico-cortical de-coupling and cross-modal re-organization that occurs in deafness...
December 2015: Otorinolaringologia
https://www.readbyqxmd.com/read/27631835/cdh23-related-hearing-loss-a-new-genetic-risk-factor-for-semicircular-canal-dehiscence
#9
Kathryn Y Noonan, Jack Russo, Jun Shen, Heidi Rehm, Sara Halbach, Einar Hopp, Sarah Noon, Jacqueline Hoover, Clifford Eskey, James E Saunders
OBJECTIVE: To investigate the prevalence and relative risk of semicircular canal dehiscence (SCD) in pediatric patients with CDH23 pathogenic variants (Usher syndrome or non-syndromic deafness) compared with age-matched controls. STUDY DESIGN: Retrospective cohort study. SETTING: Multi-institutional study. PATIENTS: Pediatric patients (ages 0-5 years) were compared based on the presence of biallelic pathogenic variants in CDH23 with pediatric controls who underwent computed tomography (CT) temporal bone scan for alternative purposes...
September 14, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27613397/cross-modal-plasticity-in-developmental-and-age-related-hearing-loss-clinical-implications
#10
Hannah Glick, Anu Sharma
This review explores cross-modal cortical plasticity as a result of auditory deprivation in populations with hearing loss across the age spectrum, from development to adulthood. Cross-modal plasticity refers to the phenomenon when deprivation in one sensory modality (e.g. the auditory modality as in deafness or hearing loss) results in the recruitment of cortical resources of the deprived modality by intact sensory modalities (e.g. visual or somatosensory systems). We discuss recruitment of auditory cortical resources for visual and somatosensory processing in deafness and in lesser degrees of hearing loss...
September 6, 2016: Hearing Research
https://www.readbyqxmd.com/read/27466895/a-review-of-temporal-bone-ct-imaging-with-respect-to-pediatric-bone-anchored-hearing-aid-placement
#11
Aaron Baker, David Fanelli, Sangam Kanekar, Huseyin Isildak
OBJECTIVE: Bone-anchored hearing aid has been shown to be effective in hearing rehabilitation for conductive loss or single-sided deafness. Current FDA guidelines allow implantation in patients over 5 years old. This guideline is at least partially due to concern for thickness of bone stock at the implant site. We aim to investigate whether temporal bone thickness should be a deterrent to implantation in those younger than five. STUDY DESIGN: A retrospective review of high-resolution temporal bone computed tomographies (CTs) comparing measurements between ears with chronic disease and controls...
October 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27453229/oculopharyngeal-weakness-hypophrenia-deafness-and-impaired-vision-a-novel-autosomal-dominant-myopathy-with-rimmed-vacuoles
#12
Ting Chen, Xiang-Hui Lu, Hui-Fang Wang, Rui Ban, Hua-Xu Liu, Qiang Shi, Qian Wang, Xi Yin, Chuan-Qiang Pu
BACKGROUND: Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected. METHODS: A clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family...
August 5, 2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27390923/early-expressive-language-skills-predict-long-term-neurocognitive-outcomes-in-cochlear-implant-users-evidence-from-the-macarthur-bates-communicative-development-inventories
#13
Irina Castellanos, David B Pisoni, William G Kronenberger, Jessica Beer
PURPOSE: The objective of the present article was to document the extent to which early expressive language skills (measured using the MacArthur-Bates Communicative Development Inventories [CDI; Fenson et al., 2006]) predict long-term neurocognitive outcomes in a sample of early-implanted prelingually deaf cochlear implant (CI) users. METHOD: The CDI was used to index the early expressive language skills of 32 pediatric CI users after an average of 1.03 years (SD = 0...
August 1, 2016: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/27386929/gjb2-sequencing-in-deaf-and-profound-sensorineural-hearing-loss-children
#14
Marzena Mielczarek, Anna Zakrzewska, Jurek Olszewski
INTRODUCTION: GJB2 mutations are the most frequent reason of genetic congenital hearing loss. The aim of the study was to assess the prevalence of GJB2 mutations in the deaf and profound hearing loss children. MATERIAL AND METHODS: The material of the study was a group of 61 patients divided into two groups. Group I - 35 deaf or with profound sensorineural hearing loss children (the pupils of the deaf and hard of hearing school), aged 5-17 years (average 9.2 years), 14 males, 21 females, II - control group comprised 26 normal hearing patients, aged 5-16 years (average 10...
June 30, 2016: Otolaryngologia Polska. the Polish Otolaryngology
https://www.readbyqxmd.com/read/27284308/causal-variants-screened-by-whole-exome-sequencing-in-a-patient-with-maternal-uniparental-isodisomy-of-chromosome-10-and-a-complicated-phenotype
#15
Niu Li, Y U Ding, Tingting Yu, Juan Li, Yongnian Shen, Xiumin Wang, Qihua Fu, Yiping Shen, Xiaodong Huang, Jian Wang
Uniparental disomy (UPD), which is the abnormal situation in which both copies of a chromosomal pair have been inherited from one parent, may cause clinical abnormalities by affecting genomic imprinting or causing autosomal recessive variation. Whole Exome Sequencing (WES) and chromosomal microarray analysis (CMA) are powerful technologies used to search for underlying causal variants. In the present study, WES was used to screen for candidate causal variants in the genome of a Chinese pediatric patient, who had been shown by CMA to have maternal uniparental isodisomy of chromosome 10...
June 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27262350/active-inhibition-of-the-first-over-the-second-ear-implanted-sequentially
#16
S Burdo, A Giuliani, L Dalla Costa
OBJECTIVE: To identify the influence of the first implanted ear on the performance of the delayed sequentially implanted ear in pediatric patients. STUDY DESIGN: Retrospective case series review. SETTING: Outpatient Cochlear Implant (CI) center. PATIENTS: Congenitally deaf children who underwent unilateral implant at various ages followed by sequential implant of the contralateral ear with various delays were enrolled in the study...
June 2016: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/27240480/auditory-training-improves-auditory-performance-in-cochlear-implanted-children
#17
Stephane Roman, Françoise Rochette, Jean-Michel Triglia, Daniele Schön, Emmanuel Bigand
UNLABELLED: While the positive benefits of pediatric cochlear implantation on language perception skills are now proven, the heterogeneity of outcomes remains high. The understanding of this heterogeneity and possible strategies to minimize it is of utmost importance. Our scope here is to test the effects of an auditory training strategy, "sound in Hands", using playful tasks grounded on the theoretical and empirical findings of cognitive sciences. Indeed, several basic auditory operations, such as auditory scene analysis (ASA) are not trained in the usual therapeutic interventions in deaf children...
July 2016: Hearing Research
https://www.readbyqxmd.com/read/27095049/outcomes-following-pediatric-auditory-brainstem-implant-surgery-early-experiences-in-a-north-american-center
#18
Sidharth V Puram, Samuel R Barber, Elliott D Kozin, Parth Shah, Aaron Remenschneider, Barbara S Herrmann, Ann-Christine Duhaime, Fred G Barker, Daniel J Lee
There are no approved Food and Drug Administration indications for pediatric auditory brainstem implant (ABI) surgery in the United States. Our prospective case series aims to determine the safety and feasibility of ABI surgery in pediatric patients <5 years old with congenital deafness at a tertiary North American center. The inclusion criterion was pre- or postlinguistic deafness in children not eligible for cochlear implantation. Seventeen candidates were evaluated (mean ± SD: age, 2.52 ± 0.39 years)...
July 2016: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/26967360/pediatric-audiology-in-north-america-current-clinical-practice-and-how-it-relates-to-the-american-academy-of-audiology-pediatric-amplification-guideline
#19
Sheila Moodie, Eileen Rall, Leisha Eiten, George Lindley, Dave Gordey, Lisa Davidson, Marlene Bagatto, Susan Scollie
BACKGROUND: There is broad consensus that screening and diagnosis of permanent hearing loss in children must be embedded within a comprehensive, evidence-based, family-centered intervention program. Clinical practice guidelines (CPGs) for pediatric hearing assessment and hearing aid verification aim to reduce variability in practice and increase the use of effective evidence-based diagnostic and treatment options so that optimal outcomes may be achieved. To be of value, guidelines must be translated and implemented into practice and ongoing monitoring of their use in practice should occur...
March 2016: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/26957388/pediatric-auditory-brainstem-implant-surgery-a-new-option-for-auditory-habilitation-in-congenital-deafness
#20
Parth V Shah, Elliott D Kozin, Alyson B Kaplan, Daniel J Lee
INTRODUCTION: The auditory brainstem implant (ABI) is a neuroprosthetic device that provides sound sensations to individuals with profound hearing loss who are not candidates for a cochlear implant (CI) because of anatomic constraints. Herein we describe the ABI for family physicians. METHODS: PubMed was searched to identify articles relevant to the ABI, as well as articles that contain outcomes data for pediatric patients (age <18 years) who have undergone ABI surgery...
March 2016: Journal of the American Board of Family Medicine: JABFM
keyword
keyword
89604
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"