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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
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<a href="http://doi.org/10.1016/j.ijporl.2015.11.009" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.ijporl.2015.11.009</a>
Dublin Core
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Title
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Otorhinolaryngological, Audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C
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International Journal of Pediatric Otorhinolaryngology
Date
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2016
Subject
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adolescent; hearing; dysphagia; priority journal; school child; preschool child; prospective study; human; article; child; female; male; controlled study; clinical article; auditory response; Balance disorders; body equilibrium; endoscopy; Flexible endoscopy; hearing impairment; Hearing problems; Niemann Pick disease/di [Diagnosis]; Niemann-Pick disease; otorhinolaryngology; pure tone audiometry; stabilography; swallowing; Swallowing disorders; vestibular system; feeding difficulties; tone and motor problems; NPC; penetration; aspiration scale; trajectory; characteristics; postural imbalance; dysphagia
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Senirli R T; Kuscu O; Akyol U; Topcu M; Yigit O; Aksoy S; Demir N
Description
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Objectives: The aim of this study is to evaluate audiovestibular and swallowing impairment of patients with NPC. Methods: Audiovestibular and swallowing evaluation were performed on patients with Niemann-Pick disease type C (NPC) at Hacettepe University between 20013 and 2015 prospectively. Pure-tone audiometry (PTA), Auditory Brain stem response (ABR), Flexible endoscopic evaluation of swallowing (FEES) test and posturography were done. Hearing, swallowing and balance states were measured. Results: There were 16 patients (5 male and 11 female, with a median age of 6.5 years old). The most common ABR abnormalities observed were absent waves I and III (%70 absent I waves, %43.75 absent III waves). Twelve of sixteen patients (%75) had an ABR abnormality in at least one ear, of these, four patients had normal hearing and three of them had periferal hearing loss. 12 (75%) patients had complaint of postural imbalance. 11(69%) of patients had peripheral and one (6%) patient had central impairment. Nine of sixteen patients (56.25%) show some degree of dysphagia (either penetration or aspiration). Two patients (12.5%) showed aspiration both liquid and viscous nutrition. Three patients (18.75%) showed aspiration primarily in liquids and two of them had penetration with viscous nutrition. Three patients (18.75%) had penetration with no aspiration neither liquid nor viscous nutrition (PEN-ASP score was 3, 3, 5, respectively). Conclusion: There is no curative treatment for this devastating and fatal disorder and hearing impairment, balance and swallowing disorders can be seen especially late onset form of disease.
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<a href="http://doi.org/10.1016/j.ijporl.2015.11.009" target="_blank" rel="noreferrer noopener">10.1016/j.ijporl.2015.11.009</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2016
Adolescent
Aksoy S
Akyol U
Article
aspiration scale
auditory response
Balance disorders
body equilibrium
characteristics
Child
Clinical Article
Controlled Study
Demir N
Dysphagia
Endoscopy
feeding difficulties
Female
Flexible endoscopy
hearing
hearing impairment
Hearing problems
Human
International Journal of Pediatric Otorhinolaryngology
Kuscu O
Male
Niemann Pick disease/di [Diagnosis]
Niemann-Pick Disease
NPC
Otorhinolaryngology
penetration
postural imbalance
Preschool Child
Priority Journal
Prospective Study
pure tone audiometry
School Child
Senirli R T
stabilography
Swallowing
Swallowing disorders
tone and motor problems
Topcu M
Trajectory
vestibular system
Yigit O