Rezarta Taga Senirli1, Oğuz Kuşçu2, Umut Akyol1, Meral Topçu3, Öznur Yiğit4, Songül Aksoy4, Numan Demir5. 1. Hacettepe University School of Medicine, Department of Otorhinolaryngology, Ankara, Turkey. 2. Hacettepe University School of Medicine, Department of Otorhinolaryngology, Ankara, Turkey. Electronic address: drkuscu@gmail.com. 3. Hacettepe University School of Medicine, Department of Pediatric Neurology, Ankara, Turkey. 4. Hacettepe University School of Medicine, Department of Audiology, Ankara, Turkey. 5. Hacettepe University School of Medicine, Department of Physical Therapy and Rehabilitation, Ankara, Turkey.
Abstract
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.
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.
Authors: Beth I Solomon; Andrea M Muñoz; Ninet Sinaii; Nicole M Farhat; Andrew C Smith; Simona Bianconi; An Dang Do; Michael C Backman; Leonza Machielse; Forbes D Porter Journal: Orphanet J Rare Dis Date: 2022-09-05 Impact factor: 4.303