Audiological Findings in Children with PLA2G6-Associated Neurodegeneration

被引：0
|
作者：
Vandana, Valiyaparambath Purushothaman [1 ]
Darshini, Jeevendra Kumar [1 ]
Sankaran, Bindu Parayil [2 ,3 ]
机构：
[1] Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Speech Pathol & Audiol, Bengaluru, Karnataka, India
[2] Childrens Hosp Westmead, Dept Biochem Genet Genet Metab Disorders Serv, Westmead, NSW, Australia
[3] Univ Sydney, Childrens Hosp, Fac Med & Hlth, Westmead Clin Sch, Sydney, NSW, Australia
来源：
JOURNAL OF THE AMERICAN ACADEMY OF AUDIOLOGY | 2022年 / 33卷 / 06期
关键词：
infantile neuroaxonal dystrophy; sensorineural hearing loss; auditory neuropathy spectrum disorder; INFANTILE NEUROAXONAL DYSTROPHY; PHOSPHOLIPASE A(2); PLA2G6; MUTATION;
D O I：
10.1055/a-1877-2546
中图分类号：
R36 [病理学]; R76 [耳鼻咽喉科学];
学科分类号：
100104 ; 100213 ;
摘要：
Background: Audiological manifestations of patients with PLA2G6-associated neurodegeneration are limited. Objective: To analyze the audiological findings in a cohort of 13 children with infantile neuroaxonal dystrophy (INAD). Method: Patients underwent a battery of audiological tests including tympanometry, distortion product otoacoustic emissions, impedance audiometry, and Brainstem Auditory Evoked Potentials (BAEPs).Results: Audiological studies revealed abnormal findings in 10 out of 13 children (77%). The findings indicated sensorineural hearing loss in six and auditory neuropathy spectrum disorder in four children. Conclusion: This study may extend the auditory findings for INAD. Additional studies on quality of life and cognitive-brain degeneration related to this disease are required before making appropriate recommendations for aural rehabilitation.
引用
收藏
页码：324 / 329
页数：6
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