Abstract:
INTRODUCTION:Approximately 60% of congenital pediatric hearing loss is of genetic etiology. To evaluate non-syndromic sensorineural hearing loss (NSSNHL), guidelines emphasize the use of comprehensive genetic testing (CGT) with next generation sequencing (NGS), yet these tests have limited accessibility, and potential CGT results may not be well understood. Thus, our objective was to analyze genetic testing practices and results for pediatric patients with NSSNHL. METHODS:This was a retrospective chart review of pediatric patients (<18 years) diagnosed with NSSNHL from 2014 to 2017 at a tertiary pediatric hospital. Demographics, clinical data, CGT results, genetic testing practices and referral patterns were recorded and descriptively analyzed. Logistic regression models identified patient characteristics associated with pathogenic variants (PV) and variants of unknown significance (VOUS). RESULTS:430 patients with congenital NSSNHL were included in the study. Genetic testing was ordered for 28% (n = 122) and resulted for 16% (n = 68). Most of the ordered tests (89%, n = 109) were the CGT panel. A majority (62%, n = 97) of the time in which genetic testing was not ordered, a referral for genetics consultation was placed. Amongst those with CGT results, a definitive genetic etiology was identified in 25% (n = 13), with less than half due to variants of GJB2/6. At least one PV was identified for 33% (n = 18), while at least one VOUS for 93% (n = 51). There were no significant differences in PV presence or number of VOUS across any characteristic except race. When compared to Caucasians, African Americans had significantly higher rates of VOUS with a rate ratio and 95% CI of 1.61 [1.11-2.34], p = 0.01, and Asians trended towards higher rates (1.96 [0.95-4.05], p = 0.06). CONCLUSIONS:CGT is of high utility in the identification of relevant genetic variants and definitive genetic etiologies for pediatric patients with NSSNHL. Though guidelines recommend the early use of CGT, there are many barriers to appropriate testing and counseling, leading to low rates of CGT use at this single institution.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Raymond M,Walker E,Dave I,Dedhia Kdoi
10.1016/j.ijporl.2019.05.038subject
Has Abstractpub_date
2019-09-01 00:00:00pages
68-75eissn
0165-5876issn
1872-8464pii
S0165-5876(19)30259-9journal_volume
124pub_type
杂志文章abstract:OBJECTIVE:This study assessed the development of balance function in children using platform stabilometry. METHODS:A total of 251 healthy children aged from 3 to 12 years were enrolled in this study. Each subject underwent stabilometry under four various conditions (A: firm surface with eyes open; B: firm surface with...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.01.016
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVES:To study a possible impact of adenoidectomy on malocclusion on the base of cephalometry. METHODS:Retrospective analysis of 148 patients qualified into the orthodontic treatment (77 girls and 71 boys) at the age of 9-11 years (an average age: 10 years and 3 months). Material was divided into three groups, eq...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.10.001
更新日期:2009-12-01 00:00:00
abstract:AIM:To analyze the indications and outcomes of open neurosurgical approaches (ONA) and endoscopic transnasal approaches (ETA) in the surgical management of pediatric sinogenic subdural and epidural empyema. MATERIAL AND METHODS:Retrospective single-center study design within a tertiary care referral center setting. Ch...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.08.007
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVES:The purpose of the study was to evaluate the treatment effects of functional appliances (FAs) on upper airway dimensions in growing Class II patients with mandibular retrognathism. METHODS:Five databases and the references of identified articles were electronically searched for relevant studies that met our...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.ijporl.2017.04.009
更新日期:2017-06-01 00:00:00
abstract:OBJECTIVE:Determine clinical signs or symptoms associated with a more complicated clinical course in patients with retropharyngeal abscesses (RPAs). DESIGN:Retrospective chart review at a tertiary care level Children's hospital. Main Outcome Measures Age, presenting signs and symptoms, laboratory tests, imaging result...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2009.11.010
更新日期:2010-02-01 00:00:00
abstract::To call attention to complications of chronic otitis media, the case of a patient who simultaneously developed lateral sinus thrombosis and Bezold's abscess is reported. A 7 year old boy presented with fever, drowsiness, cervical mass and otorrhea not responding to medical management. Work-up revealed lateral sinus th...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/s0165-5876(97)00139-0
更新日期:1998-01-01 00:00:00
abstract:OBJECTIVE:This study aims to assess the usefulness of the LittlEARS(®) Auditory Questionnaire (LEAQ) in determining the audiological development of Turkish children who have received a cochlear implant. METHODS:20 children received a cochlear implant before their 3rd birthday. Each child's progress was evaluated with ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2013.05.036
更新日期:2013-08-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to investigate the effects of topotecan (Hycamtin), a topoisomerase I inhibiting anticancer agent, on Transient Evoked Otoacoustic Emissions (TEOAEs) of the rabbits. We planned to investigate whether this test might provide a method for monitoring early ototoxic influence of drug adm...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(01)00578-x
更新日期:2001-11-01 00:00:00
abstract::In Malaysia 1,307 randomly selected primary school children were screened to find out the prevalence of hearing loss and middle ear disorders. Seventy-six students (5.81%) failed the screening audiometric test. There were 95 students (7.26%) with middle ear disorders. History of ear discharge was absent in 24 out of 5...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(91)90098-v
更新日期:1991-07-01 00:00:00
abstract::Craniometaphyseal dysplasia is a rare genetic condition characterised by hyperostosis of the skull base and sclerosis of craniofacial bones. This can cause nasal obstruction. This paper presents the case of a 14-year old with craniometaphyseal dysplasia presenting with nasal obstruction successfully treated with turbi...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/j.ijporl.2015.03.029
更新日期:2015-06-01 00:00:00
abstract:OBJECTIVE:To assess whether the recently published guidelines of the American Academy of Pediatrics (AAP) on acute otitis media (AOM) are in line with the requirements set by the GRADE system (grading of recommendations assessment, development, and evaluation system of rating quality of evidence and grading strength of...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 社论
doi:10.1016/j.ijporl.2014.04.044
更新日期:2014-07-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to examine the levels of depressive symptoms and the unique contribution of two aspects of emotion regulation (coping and mood states) to the development of depression in hearing-impaired children and a control group. METHODS:In order to compare the groups, self-report questionn...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2011.07.023
更新日期:2011-10-01 00:00:00
abstract::The effect of middle-ear dysfunction and disease on hearing and language development at one year of age was evaluated for 143 high-risk infants. These infants were categorized as normal or abnormal based on otologic history, otoscopic examinations, and on tympanometric examinations. Language was significantly related ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(79)90004-1
更新日期:1979-09-01 00:00:00
abstract::Lesions produced by exposure to noise are frequent in everyday life. Injuries may be found in all systems of the human body, from the digestive to the endocrine, from the cardiovascular to the nervous system. Many organs may be damaged, the ear being one of them. It is known that noise produced by factories, airports,...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(95)01289-3
更新日期:1996-03-01 00:00:00
abstract::Osteomas are benign pedunculated tumours of the lamellar bone, which commonly originates from paranasal sinuses. Within the temporal bone they are seen commonly in the external ear canal. Osteomas originating from the middle ear are very rare. There are only 12 cases reported in the medical literature up to now. Five ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(00)00286-x
更新日期:2000-04-15 00:00:00
abstract:OBJECTIVE:To define the gene expression patterns during the early phases of a bacterial middle ear infection in the rat model. METHOD:Using cDNA gene array technology, we profiled the mRNA expression of 1176 genes in a rat model of acute otitis media. We identified changes in gene expression two-fold or greater 12 and...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2005.03.033
更新日期:2005-10-01 00:00:00
abstract::Hemophilia A, von Willebrand's disease and uremia prolong the bleeding time in affected children. Management of hemorrhage is difficult in these patients, and often requires multiple therapeutic modalities. Desmopressin, a synthetic analog of arginine vasopressin (DDAVP), decreases the bleeding time in patients with t...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(86)80043-x
更新日期:1986-09-01 00:00:00
abstract::This overview of the relationship between the nasopharyngeal tonsil and otitis media will review three important concepts: (1) Adenoid inflammation leads to inflammatory obstruction of the Eustachian tube; (2) early colonization of the adenoid with the three major bacterial pathogens of otitis media is the most import...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,评审
doi:10.1016/s0165-5876(99)00146-9
更新日期:1999-10-05 00:00:00
abstract:INTRODUCTION:Pediatric head and neck masses can pose a diagnostic challenge due to their ubiquitous nature. The vast majority of masses are inflammatory, however malignancies do occur. This study is a review of fine needle aspiration biopsy (FNA-B) as a diagnostic technique at a single institution over a 13 year period...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.05.005
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVE:To implement a surgeon led initiative for tracheostomy education for non-surgical pediatric first responders in the hospital setting and to assess its efficacy. METHODS:A prospective, observational study conducted from September 2018 to March 2019. All pediatric residents at a tertiary care children's hospit...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.109944
更新日期:2020-06-01 00:00:00
abstract:INTRODUCTION:Cisplatin is a widely used anticancer chemotherapeutic agent. However, it is notorious for its ototoxicity and nephrotoxicity due to induction of reactive oxygen species (ROS). Caffeic acid is a naturally occurring polyphenol present in honey that is known to reduce the generation of oxygen-derived free ra...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2014.10.013
更新日期:2014-12-01 00:00:00
abstract:INTRODUCTION:Primary Ciliary Dyskinesia (PCD) describes a group of inherited disorders that result in abnormal ciliary motion leading to mucous stasis. Clinical features include almost universally otitis media with effusion (OME), particularly in infants. PCD patients provide us with a cohort of patients with OME that ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.12.015
更新日期:2018-02-01 00:00:00
abstract::Hydatid disease is caused by the parasitic tapeworm Echinococcus. This parasite in larval stage can thrive in many parts of the body, most commonly in the liver and the lung. Hydatid disease in the head and neck is uncommon and hydatid cyst presents rarely as a cervical mass. Cervical vertebral echinococcosis is rare....
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/s0165-5876(03)00059-4
更新日期:2003-06-01 00:00:00
abstract:OBJECTIVES/HYPOTHESIS:To evaluate perioperative considerations and post-operative complications associated with parathyroidectomy in the pediatric population. METHODS:The Kids' Inpatient Database 21 (KID) was searched for patients who underwent parathyroidectomy in 2009 and 2012. Patient demographics, hospital stay, a...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.10.017
更新日期:2016-12-01 00:00:00
abstract::Failure of decannulation after paediatric tracheostomy, once the underlying disorder has resolved, is almost always due to peristomal complications. Granulation tissue formation in the raw tissue of the stoma and its subsequent fibrosis requires removal (50 of the 293 tracheostomies from the Red Cross War Memorial Chi...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/0165-5876(92)90050-y
更新日期:1992-03-01 00:00:00
abstract:OBJECTIVES:To evaluate the results of a newly introduced technique to our Department of endoscopic assisted transcanal myringoplasty applied in tympanic membrane perforation in children of any age and compare them to that of the previously standard microscopic assisted myringoplasty technique. METHODS:A retrospective ...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.08.025
更新日期:2015-11-01 00:00:00
abstract::The neck is divided into multiple compartments by cervical fasciae. The deep space compartments, which all have a potential for becoming infected, are interconnected, providing a mechanism for the spread of infections. Thus, infections of the deep spaces can lead to devastating consequences, especially when there is e...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2016.02.016
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVE:The current study aims to examine the effects of human resource (measured with the perception of health workers' perception towards UNHS), screening equipment, program layout and screening techniques on healthcare practitioners' awareness (measured with knowledge) of universal newborn hearing screening (UNHS)...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.03.030
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:To explore the differences in sensory processing between children with hearing impairments and children with normal hearing and the variables that influence sensory processing disorder (SPD). METHODS:The sensory processing abilities of 90 children were compared in three age-matched groups of 30, with cochlea...
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2020.110154
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVES:A quick repetition test can be useful as a screening or preliminary investigation to select children who need to be assessed with a more specific articulation test. Schindler's repetition test lasts about 2 min and requires the repetition of a 30 words list, each word targeting a specific phoneme or cluster....
journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2015.03.025
更新日期:2015-06-01 00:00:00