ETHICALLY MANAGING LEIGH’S SYNDROME: A CLINICAL CASE STUDY

ETHICALLY MANAGING LEIGH’S SYNDROME: A CLINICAL CASE STUDY

Registration ID: IJNRD_212745

Published ID: IJNRD2401210

DOI: Click Here to Get

DR. SHRUTINATH BANERJEE

Neurological disorder, Speech disorder, Leigh’s syndrome, Speech therapy.

Leigh syndrome, a rare inherited neurometabolic disorder described as subacute necrotizing encephalomyelopathy, affects the central nervous system and falls within a group of mitochondrial cytopathies involving disordered oxidative phosphorylation in the affected neural cells leading to disrupted enzyme of mitochondrial aberrations are attributed to variously inherited nDNA or mtDNA mutations The present study strives to demonstrate the efficacy, and therefore the need and ethical justification of therapeutic intervention at-least in the speech-language and swallowing realm; despite poor prognosis and the high risk of early death, in such infants through a representative case study. The case “x”, a three years old girl suffered classical cognitive, neuromotor, and linguistic regression following suspected pneumonia at 18 months (probable trigger), before which she had 10-15 words vocabulary, able to recognize body parts, follow simple verbal command. The child presented severe dystonia, hypotonia, moderate dysphagia with persistent of sucking reflexes, oromotor inadequacies, absence of spoken words, absence of receptive language except to name-calling. Intensive physiotherapeutic and speech-language intervention were initiated. Orofacial exercises, dysphagia management protocols including the compensatory approaches and dietary modifications as well as direct language therapy for increase in vocabulary were taken up. After 2 months of therapy, there were significant improvements especially in swallowing rate and strength, integration of infantile reflexes and increase in linguistic receptivity, which clearly warrants continued therapy and consideration of AAC.

Published Paper   E-Certificate

"ETHICALLY MANAGING LEIGH’S SYNDROME: A CLINICAL CASE STUDY", IJNRD - INTERNATIONAL JOURNAL OF NOVEL RESEARCH AND DEVELOPMENT (www.IJNRD.org), ISSN:2456-4184, Vol.9, Issue 1, page no.c73-c81, January-2024, Available :https://ijnrd.org/papers/IJNRD2401210.pdf

Volume 9 Issue 1, January-2024

Pages : c73-c81

Paper Reg. ID: IJNRD_212745

Published Paper Id: IJNRD2401210

Downloads: 000121203

Research Area: Medical Science

Country: BURDWAN, West Bengal, India

Published Paper PDF: https://ijnrd.org/papers/IJNRD2401210.pdf

Published Paper URL: https://ijnrd.org/viewpaperforall?paper=IJNRD2401210

Journal Name: INTERNATIONAL JOURNAL OF NOVEL RESEARCH AND DEVELOPMENT(IJNRD)

ISSN: 2456-4184 | IMPACT FACTOR: 8.76 Calculated By Google Scholar | ESTD YEAR: 2016

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