Open Access Open Access  Restricted Access Subscription or Fee Access

Audiological Profiling in identical Twins with Auditory Neuropathy Spectrum Disorder: A Case Report

Pavan K, Sabarish Appu, Muhammed Shamil T V, Shilpa N

Abstract


Congenital or late-onset auditory neuropathy spectrum disorder (ANSD) is a severe form of sensorineural hearing loss primarily affects speech perception. However, there are various etiologies, including birth-related risk factors such as prematurity, hyperbilirubinemia, a genetic infant admitted to neonatal intensive care unit (NICU), anoxia, congenital anomalies, consanguinity, and other infections. A genetic predisposition is likely to be the underlying causative factor in about 40% of cases. It can be inherited in either syndromic or non-syndromic patterns. The essential underlying pathogenesis of ANSD is at the molecular level, according to earlier researches that identified several genes linked to the disorder. The OTOF gene was the first to be identified as a cause of autosomal recessive non-syndromic ANSD. The below case report provides the audiological characteristics of identical twins diagnosed with a bilateral and unilateral auditory neuropathy spectrum disorder. The current case report provides information on the necessity of examining their genetic transmission with the appropriate genetic testing. It also insisted on the importance of genetic linkage analysis, and there is a need to identify several mutated genes responsible for ANSD. In order to completely understand and conduct research on the genetic factor causing ANSD, it is also crucial to take into account such case peculiarities.

 

Keywords- Auditory Neuropathy Spectrum Disorder (ANSD), congenital ANSD, Auditory de-synchrony, Cochlear Microphonics (CM), Transient Evoked Oto Acoustic Emission (TEOAE).


Full Text:

PDF

References


Berlin, C. I., Hood, L. J., Morlet, T., Wilensky, D., Li, L., Mattingly, K. R., ...& Frisch, S. A. (2010). Multi-site diagnosis and management of 260 patients with auditory neuropathy/dys-synchrony (auditory neuropathy spectrum disorder*). International journal of audiology, 49(1), 30-43.

Starr, A., Picton, T. W., Sininger, Y., Hood, L. J., & Berlin, C. I. (1996). Auditory neuropathy. Brain, 119(3), 741-753.

Berlin, C. I., Hood, L. J., Goforth-Barter, L., &Bordelon, J. (1999). Clinical application of auditory efferent studies. The Efferent Auditory System. Basic Science and Clinical Applications. San Diego: Singular, 105-25.

National Deaf Children’s Society May 2019 https://www.ndcs.org.uk/documents-and-resources/understanding-your-childs-hearing-tests/.

Buchman, C. A., Roush, P. A., Teagle, H. F., Brown, C. J., Zdanski, C. J., & Grose, J. H. (2006). Auditory neuropathy characteristics in children with cochlear nerve deficiency. Ear and hearing, 27(4), 399-408.

Berlin, C. I., Bordelon, J., John, P. S., Wilensky, D., Hurley, A., Kluka, E., & Hood, L. J. (1998). Reversing click polarity may uncover auditory neuropathy in infants. Ear and Hearing, 19(1), 37-47.

Mohammadi, A., Walker, P., & Gardner-Berry, K. (2015). Unilateral auditory neuropathy spectrum disorder: retrocochlear lesion in disguise?.The Journal of Laryngology & Otology, 129(S1), S38-S44.

Foerst, A., Beutner, D., Lang-Roth, R., Huttenbrink, K. B., von Wedel, H., &Walger, M. (2006). Prevalence of auditory neuropathy/synaptopathy in a population of children with profound hearing loss. International journal of pediatric otorhinolaryngology, 70(8), 1415-1422.

Zakzouk, S. M., Fadle, K. A., & Al Anazy, F. H. (1995). Familial hereditary progressive sensorineural hearing loss among Saudi population. International journal of pediatric otorhinolaryngology, 32(3), 247-255.

Lepcha, A., Chandran, R. K., Alexander, M., Agustine, A. M., Thenmozhi, K., &Balraj, A. (2015). Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India. Annals of Indian Academy of Neurology, 18(2), 171.

Zhang, Q. J., Lan, L., Shi, W., Wang, D. Y., Qi, Y., Zong, L., ...& Wang, Q. J. (2012). Unilateral auditory neuropathy spectrum disorder. Actaoto-laryngologica, 132(1), 72-79.https://doi.org/10.3109/00016489.2011.629630.

Kirkim, G., Serbetcioglu, B., Erdag, T. K., &Ceryan, K. (2008). The frequency of auditory neuropathy detected by universal newborn hearing screening program. International journal of pediatric otorhinolaryngology, 72(10), 1461-1469.

Schulman-Galambos, C., &Galambos, R. (1979). Brain stem evoked response audiometry in newborn hearing screening. Archives of Otolaryngology, 105(2), 86-90.

Amatuzzi, M., Liberman, M. C., & Northrop, C. (2011). Selective inner hair cell loss in prematurity: a temporal bone study of infants from a neonatal intensive care unit. Journal of the Association for Research in Otolaryngology, 12(5), 595-604.Roush, P. (2008). Auditory neuropathy spectrum disorder: evaluation and management. The Hearing Journal, 61(11), 36-38.

Berg, A. L., Spitzer, J. B., Towers, H. M., Bartosiewicz, C., & Diamond, B. E. (2005). Newborn hearing screening in the NICU: profile of failed auditory brainstem response/passed otoacoustic emission. Pediatrics, 116(4), 933-938.

Xoinis, K., Weirather, Y., Mavoori, H., Shaha, S. H., & Iwamoto, L. M. (2007). Extremely low birth weight infants are at high risk for auditory neuropathy. Journal of Perinatology, 27(11), 718-723.

Bielecki, I., Horbulewicz, A., &Wolan, T. (2012). Prevalence and risk factors for auditory neuropathy spectrum disorder in a screened newborn population at risk for hearing loss. International journal of pediatric otorhinolaryngology, 76(11), 1668-1670.

Sabarish, A.&Harshvardhan R. U (2020). A Case Report on Familial origin of Auditory Neuropathy Spectrum Disorder. Journal of Pediatrics Research Reviews & Reports. SRC/JPRRR-119. DOI: doi. org/10.47363/JPRRR/2020 (2), 113.




DOI: https://doi.org/10.37591/rrjon.v12i3.3043

Refbacks

  • There are currently no refbacks.


Copyright (c) 2022 Research & Reviews: Journal of Neuroscience