PMID- 35705187
OWN - NLM
STAT- Publisher
LR  - 20240216
IS  - 2157-3107 (Electronic)
IS  - 1050-0545 (Linking)
DP  - 2022 Nov 29
TI  - Audiological Findings in Children with PLA2G6-Associated Neurodegeneration.
LID - 10.1055/a-1877-2546 [doi]
AB  - 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.
CI  - American Academy of Audiology. This article is published by Thieme.
FAU - Vandana, Valiyaparambath Purushothaman
AU  - Vandana VP
AD  - Department of Speech Pathology and Audiology, National Institute of Mental Health 
      and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
FAU - Darshini, Jeevendra Kumar
AU  - Darshini JK
AD  - Department of Speech Pathology and Audiology, National Institute of Mental Health 
      and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.
FAU - Sankaran, Bindu Parayil
AU  - Sankaran BP
AD  - Department of Biochemical Genetics and Genetic Metabolic Disorders Service, The 
      Children's Hospital at Westmead, Westmead, NSW, Australia.
AD  - The Children's Hospital at Westmead Clinical School, Faculty of Medicineand 
      Health, University of Sydney, Sydney, NSW, Australia.
LA  - eng
PT  - Journal Article
DEP - 20221129
PL  - United States
TA  - J Am Acad Audiol
JT  - Journal of the American Academy of Audiology
JID - 9114646
SB  - IM
COIS- None declared.
EDAT- 2022/06/16 06:00
MHDA- 2022/06/16 06:00
CRDT- 2022/06/15 19:33
PHST- 2022/06/16 06:00 [pubmed]
PHST- 2022/06/16 06:00 [medline]
PHST- 2022/06/15 19:33 [entrez]
AID - 10.1055/a-1877-2546 [doi]
PST - aheadofprint
SO  - J Am Acad Audiol. 2022 Nov 29. doi: 10.1055/a-1877-2546.