title: Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Hacettepe University School of Medicine, Department of Otorhinolaryngology, Ankara, Turkey.
authors.forename: Rezarta Taga
authors.initials: RT
authors.lastname: Senirli
authors.affiliation: Hacettepe University School of Medicine, Department of Otorhinolaryngology, Ankara, Turkey. Electronic address: drkuscu@gmail.com.
authors.forename: Oğuz
authors.initials: O
authors.lastname: Kuşçu
authors.affiliation: Hacettepe University School of Medicine, Department of Otorhinolaryngology, Ankara, Turkey.
authors.forename: Umut
authors.initials: U
authors.lastname: Akyol
authors.affiliation: Hacettepe University School of Medicine, Department of Pediatric Neurology, Ankara, Turkey.
authors.forename: Meral
authors.initials: M
authors.lastname: Topçu
authors.affiliation: Hacettepe University School of Medicine, Department of Audiology, Ankara, Turkey.
authors.forename: Öznur
authors.initials: Ö
authors.lastname: Yiğit
authors.affiliation: Hacettepe University School of Medicine, Department of Audiology, Ankara, Turkey.
authors.forename: Songül
authors.initials: S
authors.lastname: Aksoy
authors.affiliation: Hacettepe University School of Medicine, Department of Physical Therapy and Rehabilitation, Ankara, Turkey.
authors.forename: Numan
authors.initials: N
authors.lastname: Demir
mesh_terms: D000293:Adolescent; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D003679:Deglutition; D003680:Deglutition Disorders / Q000209:etiology*; D016099:Endoscopy, Gastrointestinal; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006309:Hearing; D034381:Hearing Loss / Q000209:etiology*; D006801:Humans; D008297:Male; D052556:Niemann-Pick Disease, Type C / Q000150:complications* / Q000503:physiopathology; D004856:Postural Balance; D053120:Respiratory Aspiration / Q000209:etiology
keywords: Balance disorders; Hearing problems; Niemann–Pick disease; Swallowing disorders