Familial auditory neuropathy spectrum disorder – A case report
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Abstract
Auditory Neuropathy Spectrum Disorder (ANSD) is a hearing disorder where outer hair cell function inside the cochlea is typical, but inner hair cell and/or the auditory nerve function is disrupted. It is a heterogeneous disorder which can have any congenital or acquired causes. Additionally, the etiology of auditory neuropathy is immense, which may comprise prematurity, hyperbilirubinaemia, anoxia, hypoxia, congenital brain anomalies, ototoxic drug exposure, and genetic actors. It is projected that roughly 40% of cases have an underlying genetic origin, which can be inherited in both syndromic and non-syndromic conditions. The below case report serves as an extra evidence for the underlying genetic trait in ANSD. The study presents two cases where, both father and daughter were diagnosed as ANSD.
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Zeng FG, Kong YY, Michalewski HJ, Starr A (2005) Perceptual consequences of disrupted auditory nerve activity. J Neurophysiol 93: 3050–3063. Link: https://bit.ly/3dbfF9i
Hinchcliffe R, Osuntokun BO, Adeuja AO (1972) Hearing levels in Nigerian ataxia neuropathy. Audiology 11: 218–230. Link: https://bit.ly/3hIqGlZ
Worthington DW, Peters JF (1980) Quantifiable hearing and no ABR: paradox or error? Ear Hear 1: 281–285. Link: https://bit.ly/2V3opbs
Cacace AT, Satya-Murti S, Grimes CT (1983) Frequency selectivity and temporal processing in Friedreich’s ataxia: clinical aspects in two patients. Ann Otol Rhinol Laryngol 92: 276–280. Link: https://bit.ly/3ejIRMH
Kraus N, Ozdamar O, Stein L, Reed N (1984) Absent auditory brain stem response: peripheral hearing loss or brain stem dysfunction? Laryngoscope 94: 400–406. Link: https://bit.ly/2Cl0mOx
Dowley AC, Whitehouse WP, Mason SM, Cope Y, Grant J, et al. (2009) Auditory neuropathy: unexpectedly common in a screened newborn population. Dev Med Child Neurol 51: 642-646. Link: https://bit.ly/3eibfin
Berlin CI, Hood LJ, Morlet T, Mattingly KR, Taylor-Jeanfreau J, et al. (2010) Multi-site diagnosis and management of 260 patients with auditory neuropathy/ dys-synchrony (Auditory Neuropathy Spectrum Disorder*). Int J Audiol 49: 30–43. Link: https://bit.ly/2UY0I4j
Starr A, Picton TW, Sininger Y, Hood LJ, Berlin CI (1996) Auditory neuropathy. Brain 119: 741–753. Link: https://bit.ly/30Xeub3
Talaat HS, Kabel AH, Samy H, Elbadry M (2009) Prevalence of auditory neuropathy (AN) among infants and young children with severe to profound hearing loss. Int J Pediatr Otorhinolaryngol 73: 937–939. Link: https://bit.ly/37N0kLc
Sutton G, Gravel J, Hood LJ, Lightfoot G, Mason S, et al. (2003) Assessment & management of auditory neuropathy/auditory dys-synchrony. NHSP AN/ AD Protocol J Laryngol Otol 117: 399–401.
Madden C, Rutter M, Hilbert L, Greinwald J, Choo D (2002) Clinical and audiological features of auditory neuropathy. Arch Otolaryngol Head Neck Surg 128: 1026–1030. Link: https://bit.ly/3efkMqg
Roush P (2008) Auditory neuropathy spectrum disorder: evaluation and management. Hear J 61: 36–41.
Manchaiah VK, Zhao F, Danesh AA, Duprey R (2011) The genetic basis of auditory neuropathy spectrum disorder (ANSD). Int J Pediatr Otorhinolaryngol 75: 151-158. Link: https://bit.ly/30WpDZB
Taiji H, Morimoto N, Matsunaga T (2010) Auditory steady-state response thresholds in infants and young children with auditory neuropathy spectrum disorder. Audiology Japan 53: 76-83. Link: https://bit.ly/2YeYAXE
Lepcha A, Chandran R, Alexander M, Agustine A, Thenmozhi K, et al. (2015) Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India. Annals of Indian Academy of Neurology 18: 171. Link: https://bit.ly/2Cp2gxN
De Carvalho GM, Ramos PZ, Castilho AM, Guimarães AC, Sartorato EL (2016) Molecular study of patients with auditory neuropathy.14:481-490. Link: https://bit.ly/3fEq5jj
Han K, Oh D, Lee S, Lee C, Han JH, et al. (2017) ATP1A3 mutations can cause progressive auditory neuropathy: A new gene of auditory synaptopathy. Sci Rep 7: 16504. Link: https://bit.ly/2AHzeZS