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Auditory and Vestibular Research، جلد ۳۳، شماره ۲، صفحات ۱۷۲-۱۸۳
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| عنوان انگلیسی |
Audiological Profiling and Rehabilitation Outcomes in a Child with Mucopolysaccharidosis Type II |
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| چکیده انگلیسی مقاله |
Background and Aim: Mucopolysaccharidosis (MPS II) is a group of rare lysosomal storage disorders, with seven sub-types. MPS II also known as Hunter’s syndrome is the only subtype that is affected by X-linked inheritance, while the others are of autosomal inheritance. The Case: The study aimed to discuss the impact of Hunter syndrome, its pathophysiology, assessment diagnosis, audiological profiling, rehabilitation, and prognostic factors in a child diagnosed with MPS II at the age of 4 years. The auditory symptoms begin around at the age of 2–4 years, as the harmful molecule builds up in the middle ear bone sizes resulting in joint stiffness, and conductive hearing loss gradually progressing into mixed hearing loss with varying degree. Each audiological test finding was linked to the pathophysiology of MPS II, with the discussion emphasising suitable rehabilitative options and importance of multidisciplinary management of hunter syndrome. Conclusion: The atypical manifestations of MPS II with fluctuating hearing loss is suggestive of the need for early identification, adequate profiling, appropriate rehabilitative measures and role of allied professionals in management of the disorder. |
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| نویسندگان مقاله |
| Kavassery Venkateswaran Nisha
Department of Audiology, All India Institute of Speech and Hearing, Mysuru, India
| Govindaraju Teja
Department of Audiology, All India Institute of Speech and Hearing, Mysuru, India
| Nikki Mary Thomas
Department of Audiology, All India Institute of Speech and Hearing, Mysuru, India
| Nishant Thakur
Department of Audiology, All India Institute of Speech and Hearing, Mysuru, India
| Parvathy Valsa
Department of Audiology, All India Institute of Speech and Hearing, Mysuru, India
| Palaniandi Rajasekaran Sujeeth
Department of Audiology, All India Institute of Speech and Hearing, Mysuru, India
| Prashanth Prabhu
Department of Audiology, All India Institute of Speech and Hearing, Mysuru, India
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| نشانی اینترنتی |
https://avr.tums.ac.ir/index.php/avr/article/view/1203 |
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