scholarly journals Genetic-epidemiological study of pediatric population of Krasnohrad district of Kharkiv region

2018 ◽  
Vol 16 (1) ◽  
pp. 52-60 ◽  
Author(s):  
O. M. Fedota ◽  
Yu. O. Sadovnychenko ◽  
N. V. Movchan ◽  
O. V. Kolodiazhnyi ◽  
R. S. Dolzhenkova ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Down Syndrome ◽  
Sensorineural Hearing Loss ◽  
Chromosomal Abnormalities ◽  
Pediatric Population ◽  
Single Gene ◽  
Congenital Glaucoma ◽  
Prader Willi Syndrome ◽  
Chromosomal Disorders ◽  
The Past

Aim. Study of genetic pathology burden, both monogenic and chromosomal, of pediatric population of Krasnohrad district of Kharkiv region. Methods. Epidemiological and clinical-genealogical methods have been used. The information on 252 patients aged 0– 17 years from all major sources of their registration has been analyzed. Results. The monogenic pathology burden of pediatric population was 0.28 %, chromosomal disorders burden — 0.13 %, 0.41 % in total. There were 14 nosological forms of single-gene diseases, the most common ones were sensorineural hearing loss (1:1295), congenital glaucoma (1:3884), congenital hypothyroidism (1:3884), ichthyosis (1:3884). For the past ten years there was a change in the spectrum of single-gene pathology in pediatric population of Krasnohrad district. Chromosomal abnormalities in the area were represented by Down syndrome (1:868) and Prader-Willi syndrome (1:7767). Conclusions. The genetic pathology burden of the pediatric population of the Krasnohrad district of Kharkiv region, the spectrum of monogenic and chromosomal pathology, and prevalence of their individual nosological forms are comparable to those in most European countries. Keywords: genetic pathology, prevalence, single-gene diseases, chromosomal disorders, Kharkiv region.

scholarly journals The spectrum and prevalence of genetic pathology among children and adolescents of the northern districts of kharkiv region

2019 ◽  
Keyword(s):  
Children And Adolescents ◽  
Human Genetics ◽  
Pediatric Population ◽  
Genetic Disorders ◽  
Single Gene ◽  
Modern Human ◽  
Chromosomal Disorders ◽  
Healthcare Facilities ◽  
Single Gene Disorders ◽  
Epidemiological Characteristics

The spectrum and prevalence of genetic pathology among the population of a certain region are determined by the founder effect and microevolution factors and, therefore, are not always comparable in different countries. The study of these indicators is an important trend of modern human genetics. The purpose of the research was to study genetic and epidemiological characteristics of the pediatric population of two northern districts of the Kharkiv region, Ukraine: Bogodukhiv and Vovchansk. Total number of children aged 0–17 was 6896 in Bogodukhiv district, and 7891 in Vovchansk district on 01/01/2016. The medical records of 307 patients were analyzed in healthcare facilities of both districts and the city of Kharkiv. The subject of the study was the cases of single-gene and chromosomal diseases. The burden of genetic disorders among children and adolescents was 0.30% in both districts. The prevalence of single-gene diseases in these districts was 0.24% in Bogodukhiv district and 0.25% in Vovchansk district. There were 9 and 12 single-gene disorders with different modes of inheritance, respectively. Only two of them were common in the districts: congenital hypothyroidism and sensorineural hearing loss. The incidence of the latter is 1:985 in Bogodukhiv district and 1:1578 in Vovchansk district. Chromosomal pathology was detected in 0.06% of the patients in Bogodukhiv district and 0.05% in Vovchansk district. Down syndrome was the only nosological form of chromosomal disorders in both districts. For other five areas of Kharkiv region, the prevalence of genetic pathology ranges from 0.36% in Izyum district to 0.47% in Balakliia and Blyzniuky as have been previously reported. The incidence of single-gene disorders is 0.27% in Izyum and 0.39% in Blyzniuky, while the incidence of chromosomal disorders varies from 0.07% in Zmiiv to 0.13% in Krasnohrad. Thus, the spectrum and prevalence of single-gene and chromosomal pathology in Bogodukhiv and Vovchansk districts correspond to those in other districts of Kharkiv region and most European countries.

Enlarged Vestibular Aqueduct in Pediatric SNHL

2008 ◽  
Vol 139 (2_suppl) ◽  
pp. P104-P104
Author(s):  
Karuna Dewan ◽  
Judith C. Lieu
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Sensorineural Hearing Loss ◽  
Temporal Bone ◽  
Pediatric Population ◽  
Sensorineural Hearing ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Current Estimation ◽  
Temporal Bone Ct

Problem Current diagnostic criteria for enlarged vestibular aqueduct (EVA), >1.5mm at the midpoint, was determined in the pre-CT era by Valvassori. Recent research, based on 73 CTs from children with no sensorineural hearing loss (SNHL), suggests new criteria for the diagnosis of EVA—midpoint of >0.9mm or operculum >1.9mm. We evaluated the proposed new radiographic, Cincinnati criteria for the diagnosis of EVA. Methods In a retrospective cohort study, we reviewed temporal bone CT scans of 130 pediatric cochlear implant recipients to measure the vestibular aqueduct midpoint and opercular width and 5 other temporal bone dimensions. Results The Cincinnati criteria identified 44% of patients with EVA versus 16% with the Valvassori criterion (P < 0.01). Of those with EVA, 45% were unilateral and 55% were bilateral using Cincinnati criteria; 64% were unilateral and 36% bilateral using Valvassori criterion (P<0.01). Right and left side measurements of vestibular aqueduct operculum (r=0.67, P<0.01) and midpoint (r=0.58, P<0.01) correlated substantially. The Cincinnati criteria diagnosed 70 ears with EVA classified as normal using the Valvassori criterion (P<0.01). Of these 70 ears, 59 had no other medical explanation for their hearing loss. Conclusion The Cincinnati criteria identified a large percentage of pediatric cochlear implant patients with EVA who otherwise had no known etiology for their deafness. Significant correlations between right and left side measurements suggest that EVA may not be morphologically asymmetric as previously thought. Significance The Cincinnati criteria potentially alters the current estimation of the most common etiologies of bilateral severe-to-profound sensorineural hearing loss in the pediatric population. Support KD is a Doris Duke Clinical Research Fellow, supported by the Doris Duke Foundation.

Understanding Hearing and Hearing Loss in Children With Down Syndrome

2017 ◽  
Vol 26 (3) ◽  
pp. 301-308 ◽  
Author(s):  
Emily Nightengale ◽  
Patricia Yoon ◽  
Kristy Wolter-Warmerdam ◽  
Dee Daniels ◽  
Fran Hickey
Keyword(s):  
Hearing Loss ◽  
Down Syndrome ◽  
Middle Ear ◽  
Hearing Aids ◽  
Pediatric Population ◽  
Treatment Plan ◽  
Early Adulthood ◽  
High Risk Population ◽  
Children With Down Syndrome ◽  
Audiologic Testing

Purpose This study evaluated the prevalence of permanent and transient hearing loss, the use of hearing aids as a recommendation, and middle ear dysfunction in children with Down syndrome (DS) through a large multiage and ethnically diverse sample, using current audiologic testing practices. Method Retrospective analysis of data collected on 308 children with DS (168 boys, 140 girls; average age = 5.99 ± 4.88 years) who received an audiological evaluation during 2013 as part of their medical care at a large pediatric hospital. Results Permanent hearing loss was identified in 24.9% of the children, among whom bilateral (75.4%) and conductive (33.3%) hearing losses occurred most often. Of children with DS, 22%–30% experienced a transient hearing loss, with a high incidence of middle ear pathologies from infancy until early adulthood. There were no statistical differences between ethnicity and permanent/transient hearing loss diagnosis. Twenty-three percent were current hearing aid users or had them recommended in a treatment plan. Conclusions The prevalence of hearing loss and abnormal middle ear status is high in the pediatric population with DS. Audiologic evaluations should follow the American Academy of Pediatrics practice guidelines to monitor this high-risk population, and amplification should be considered as an appropriate intervention option if repeated audiologic examinations reveal hearing loss.

Sensorineural Hearing Loss with Delayed Onset of Vertigo

1995 ◽  
Vol 112 (4) ◽  
pp. 540-543 ◽  
Author(s):  
Alan W. Langman ◽  
Roger C. Lindeman
Keyword(s):  
Hearing Loss ◽  
Surgical Treatment ◽  
Sensorineural Hearing Loss ◽  
Clinical Experience ◽  
Sensorineural Hearing ◽  
Caloric Testing ◽  
Delayed Onset ◽  
The Past ◽  
Episodic Vertigo

Sensorineural hearing loss with delayed onset of vertigo is a syndrome in which episodic vertigo arises in a person who has preexisting unilateral severe-to-profound sensorineural hearing loss. This syndrome has an ipsilateral form in which the vertigo arises from the poorer hearing ear and a contralateral form in which the aural symptoms arise from the better hearing ear. The existence of this syndrome has only been noted within the past two decades. This report details our clinical experience with 17 persons with the ipsilateral form of this disorder. The onset of the vertigo after the occurrence of the hearing loss was quite variable. It ranged from 1 to 60 years after the development of the hearing loss. The hearing loss occurred for several reasons. Most patients had hearing loss due to an unknown cause. The development of the vertigo and the timing of the onset of the vertigo were not related to the cause of the hearing loss. Bithermal caloric testing identified the offending labyrinth in most patients who underwent ablative vestibular surgery. Ablative vestibular surgery was performed in 13 of the 17 persons in this study because of disabling symptoms. In all 13 cases, the episodic vertigo was eliminated. Surgical treatment for sensorineural hearing loss with delayed-onset vertigo, as with all surgery for vertigo, should be based on the severity of the afflicted person's symptoms.

Enlarged vestibular aqueducts and other inner-ear abnormalities in patients with Down syndrome

2016 ◽  
Vol 131 (4) ◽  
pp. 298-302 ◽  
Author(s):  
C M Clark ◽  
H H Patel ◽  
S G Kanekar ◽  
H Isildak
Keyword(s):  
Computed Tomography ◽  
Hearing Loss ◽  
Down Syndrome ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Internal Auditory Canal ◽  
Sensorineural Hearing ◽  
Vestibular Aqueduct ◽  
Computed Tomography Images ◽  
Temporal Bones

AbstractBackground:Histopathological anomalies of inner-ear structures in individuals with Down syndrome have been well documented; however, few studies have examined the radiological features.Methods:A retrospective study was conducted of temporal bone computed tomography images in 38 individuals (75 ears) with Down syndrome to evaluate the prevalence of inner-ear abnormalities and assess vestibular aqueduct widths.Results:Inner-ear anomalies were identified in 20 of the 38 individuals (52.6 per cent). Seven of the 75 temporal bones (9.3 per cent) were found to have higher than previously reported. A dilated internal auditory canal and vestibule were more common among the present study group, while prior studies have demonstrated internal auditory canal stenosis and decreased vestibule size.Conclusion:Down syndrome patients exhibit a high prevalence of dysplastic inner-ear features that confer substantial risk of sensorineural hearing loss. Computed tomography is a useful screening aid to detect inner-ear abnormalities, particularly enlarged vestibular aqueducts, which cause preventable sensorineural hearing loss in this population.

scholarly journals Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population

2015 ◽  
Vol 17 (11) ◽  
pp. 901-911 ◽  
Author(s):  
Nayoung K. D. Kim ◽  
Ah Reum Kim ◽  
Kyung Tae Park ◽  
So Young Kim ◽  
Min Young Kim ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pediatric Population ◽  
Sensorineural Hearing ◽  
Whole Exome

Wrongful Life and Wrongful Birth: New Concepts for the Pediatrician

PEDIATRICS ◽  
1985 ◽  
Vol 75 (1) ◽  
pp. 65-72
Author(s):  
James Coplan
Keyword(s):  
Pediatric Population ◽  
Legal Obligation ◽  
Chromosomal Disorders ◽  
The Past ◽  
Wrongful Life ◽  
New Concepts ◽  
Wrongful Birth

Over the past two decades, numerous suits for damages have been brought against physicians for the injury of wrongful life, or wrongful birth. Within the past 5 years, several precedents have been set that broaden the physician's legal obligation to recognize and act upon foreseeable or potentially recurrent genetic, teratogenic, or chromosomal disorders. These precedents may be expected to affect all physicians, but particularly pediatricians, because of the increased frequency of such disorders in the pediatric population.

scholarly journals Cochlear Implants

2010 ◽  
Vol 2 (2) ◽  
pp. 133-137
Author(s):  
MV Kirtane ◽  
Gauri Mankekar ◽  
Nishita Mohandas ◽  
Rajesh Patadia
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Sensorineural Hearing Loss ◽  
Cochlear Implants ◽  
Surgical Procedure ◽  
Sensorineural Hearing ◽  
Postoperative Therapy ◽  
The Past

Abstract The treatment of bilateral profound sensorineural hearing loss has been revolutionized over the past few decades by the development of cochlear implant technology. This review discusses the history, working of a cochlear implant, candidacy criteria for cochlear implant, surgical procedure and postoperative therapy.

Immune-Mediated Sensorineural Hearing Loss in the Pediatric Population

2021 ◽  
pp. 019459982110287
Author(s):  
Scott Gorthey ◽  
Ravi Patel ◽  
Andrea Vambutas
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Pediatric Population ◽  
Case Series ◽  
Sensorineural Hearing ◽  
Sustained Response ◽  
Secondary Outcome ◽  
Similar Treatment ◽  
Immune Mediated ◽  
Multiple Treatments

A case series with chart review of pediatric patients with immune-mediated sensorineural hearing loss, including sudden sensorineural hearing loss and autoimmune-mediated hearing loss, was performed. Ninety-eight patients with sensorineural hearing loss were reviewed, and 41 patients met the inclusion criteria, which included corticosteroid therapy for a decline in sensorineural hearing. The primary outcome was the corticosteroid response rate: 61% of patients responded. The secondary outcome was a sustained response following multiple courses of corticosteroids for additional hearing loss, which correlated with timely corticosteroid treatment: 57% showed sustained response with multiple treatments, but as anticipated, patients were more likely to respond when treated promptly. Sustained responses fell over time with multiple treatments. These data demonstrate pediatric immune-mediated sensorineural hearing loss is corticosteroid responsive in at a rate similar to their adult counterparts and should be considered for similar treatment approaches.

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