Case Report
Auditory Neuropathy and Challenges in Spoken and Sign Language in a Young Person with OTOF Mutation
DOI:
https://doi.org/10.23925/2176-2724.2024v36i4e68670Keywords:
Hearing, Deafness, Communication, Language developmentAbstract
Introduction: Auditory neuropathy spectrum disorder (ANSD) is a challenge due to the variability of clinical presentations and therapeutic responses. Objectives: This study aims to report the case of a young person with ANSD related to the OTOF gene mutation, highlighting the challenges faced in the development of spoken and sign language. Methods: A clinical case of a patient with ANSD and improvement in tonal thresholds, despite very low discrimination, is reported. In the case under study, the young person presents, in addition to difficulties in oral language, problems in understanding and producing sign language in LIBRAS. This suggests that his difficulties are not related only to the lack of audibility, indicating the presence of other factors in linguistic development. Results: In the case under study, the young man presents, in addition to difficulties in oral language, problems understanding and producing sign language in LIBRAS, despite having attended a bilingual school in LIBRAS and living with the deaf community since early childhood. Conclusion: Individuals with hearing loss since birth have their language and learning difficulties often attributed to hearing loss. However, evaluating the functioning of these individuals through a broad clinical evaluation, such as phoniatrics since childhood, can contribute to the identification of more global difficulties, not always resulting from hearing loss. This will allow the indication of early and targeted therapies, minimizing the damage to their linguistic and learning development. Linguistic assessment and intervention in children with hearing impairment requires multidisciplinary skills and, ideally, should be carried out as early as possible to enhance therapeutic results.
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Zhang QJ, Han B, Lan L, Zong L, Shi W, Wang HY, et al. High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder. Clin Genet. 2016 Sep; 90(3): 238–46.
Varga R. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J Med Genet. 2003 Jan 1; 40(1): 45–50.
Qi J, Tan F, Zhang L, Lu L, Zhang S, Zhai Y, et al. AAV‐Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness. Advanced Science. 2024 Mar 8; 11(11).
Valadão MN, Issac M de L, Rosset SRE, Araujo DB de, Santos AC dos. Visualizando a elaboração da linguagem em surdos bilíngues por meio da ressonância magnética funcional. Revista Brasileira de Linguística Aplicada. 2014 Dec; 14(4): 835–59.
DSM V TR Washington: American Psychiatric Publishing, 2022. APA - ASSOCIAÇÃO AMERICANA DE PSIQUIATRIA.
Bishop DVM, Snowling MJ, Thompson PA, Greenhalgh T. Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology. Journal of Child Psychology and Psychiatry. 2017 Oct 30; 58(10): 1068–80.
Brigande J V. Otoferlin gene therapy restores hearing in deaf children. Molecular Therapy. 2024 Apr;32(4): 859–60.
Ptok M. Otoakustische Emissionen, Hirnstammpotentiale, Tonschwellengehor und Sprachverstandlichkeit bei auditorischer Neuropathie. HNO. 2000 Jan 21; 48(1): 28–32.
Dmitriev DA, Shilov B V., Polunin MM, Zadorozhny AD, Lagunin AA. Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder. Int J Mol Sci. 2023 Dec 1; 24(24).
Tang F, Ma D, Wang Y, Qiu Y, Liu F, Wang Q, et al. Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder. BMC Med Genet. 2017 Mar 23; 18(1): 35.
Ford CL, Riggs WJ, Quigley T, Keifer OP, Whitton JP, Valayannopoulos V. The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review. Hum Genet. 2023 Oct 7; 142(10): 1429–49.
Rance G. Auditory Neuropathy/Dys-synchrony and Its Perceptual Consequences. Vol. 9, Trends In Amplification. 2005.
Guidelines Development Conference at NHS 2008, Como, Italy Guidelines for Identification and Management of Infants and Young Children with Auditory Neuropathy Spectrum Disorder [Internet]. Available from: www.naida.phonak.com
Byrne’ JH, Kandep ER. Presynaptic Facilitation Revisited: State and Time Dependence. Vol. 16, The Journal of Neuroscience. 1996.
Friederici AD. Evolution of the neural language network. Psychon Bull Rev. 2017 Feb 1; 24(1): 41–7.
Friederici AD. Towards a neural basis of auditory sentence processing. Trends Cogn Sci. 2002 Feb; 6(2): 78–84.
Friederici AD, Chomsky N, Berwick RC, Moro A, Bolhuis JJ. Language, mind and brain. Nat Hum Behav. 2017 Sep 18; 1(10): 713–22.
Favero ML TJA. O que a foniatria pode mudar no seu consultório. Vol. Ciclo10. Porto Alegre: Artmed Panamericana; 2016. 61–89.
Favero ML. Avaliação Foniátrica. In: Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Tratado de Otorrinolaringologia e Cirurgia Cérvico-Facial. . 3rd ed. 2017. 206–207.
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Copyright (c) 2024 Isamara Simas de Oliveira Pena, Monica Simons Guerra , Vivian Angerami Gonzalez La Falce, Luisa Barzaghi Ficker, Fernanda Correia Santos Bahia Alvarenga, Ana Cláudia Ghiraldi Alves, Vanessa Magosso Franchi
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