Facing the darkness: A six-month follow-up of Infantile Neuroaxonal Dystrophy

Authors

DOI:

https://doi.org/10.33448/rsd-v13i2.45039

Keywords:

Neurodegeneration; Infantile Neuroaxonal dystrophy; Motor delay.

Abstract

Objectives: The objectives of this study were to report a case of Infantile Neuroaxonal Dystrophy, document the progression of neurological impairments over a period of 6 months, and apply a specific assessment scale.  Methodology: This study is an experimental case report with a descriptive approach, conducted through teleconsultation and remote monitoring, with the active participation of a physiotherapist who regularly attends to a 4-year-old female patient diagnosed with INAD. The study was submitted to the Ethics Committee of the State University of Paraiba (UEPB) and obtained approval with the number CAAE 74421623.3.0000.5187. The patient was assessed using the Pediatric Evaluation Form from the School Clinic of Physiotherapy (CEF) at UEPB and the Infantile Neuroaxonal Dystrophy Rating Scale (INAD-RS). Results: After the 6-month period, consisting of 30 physiotherapy sessions, twice a week, including stretching exercises and postures from the Neuroevolutionary Concept of Bobath, there was a regression in the child's functional performance, as evidenced by a decrease of 9 points in the INAD-RS score, indicating disease progression. Consequently, guidance was provided to the family environment and health-related advice was given to parents and caregivers.  Conclusions: This case report highlights the importance of prior knowledge about INAD, as well as the need for the use of specific assessment scales for its evaluation. It is believed that this study will contribute to furthering the scientific knowledge of professionals in the field. Therefore, the continuation of this research is necessary due to its clinical relevance.

References

Altuame, F. D., Foskett, G., Atwal, P. S., Endemann, S., Midei, M., Milner, P., Salih, M. A., Hamad, M., AL-Muhaizea, M., Hashem, M., & Alkuraya, F. S. (2020). The natural history of infantile neuroaxonal dystrophy. Orphanet Journal of Rare Diseases, 15(1), 109. 10.1186/s13023-020-01355-2.

Atwal, P. S., Midei, M., Adams, D., Fay, A., Heerinckx, F., & Milner, P. (2020). The infantile neuroaxonal dystrophy rating scale (INAD-RS). Orphanet Journal of Rare Diseases, 15(1), 195. 10.1186/s13023-020-01479-5.

Babin, P. L., Rao, S. N. R., Chacko, A., Alvina, F. B., Panwala, A., Panwala, L., & Fumagalli, D. C. (2018). Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments. Frontiers in Genetics, 9, 597. 10.3389/fgene.2018.00597.

Camargos, A. C. R., Leite, H. R., Morais, L. R. S., & Lima, V. P. (2019). Fisioterapia em Pediatria: da Evidência à Prática Clínica. Medbook.

Estrela, C. (2018). Metodologia Científica: Ciência, Ensino, Pesquisa. Editora Artes Médicas.

Gregory, A., & Hayflick, S. J. (2005) Neurodegeneration with brain iron accumulation. Folia Neuropathol. 43(4), 286-296

Gregory, A., Polster, B. J., & Hayflick, S. J. (2009). Clinical and genetic delineation of neurodegeneration with brain iron accumulation. Journal of Medical Genetics, 46(2), 73–80.

Hayflick, S. J., Hartman, M., Coryell, J., Gitschier, J., & Rowley, H. (2003). Brain MRI in neurodegeneration with brain iron accumulation with and without PLA2G6 mutations. AJNR Am J Neuroradiol. 24(6), 1230-1233.

Jellinger, K., & Jirásek, A. (1971). Neuroaxonal Dystrophy in Man: Character and Natural History. In R.L. Friede & F. Seitelberger (Eds.), Symposium on Pathology of Axons and Axonal Flow. Acta Neuropathologica / Supplementum, 5. Springer. 10.1007/978-3-642-47449-1_2

Johnson, B., Abraham, M., Conway, J., Simmons, L., et al. (2008). Institute For Family-Centered Care. Partnering with patients and families to design a patient-and family-centered health care system: recommendations and promising practices. Retrieved from https://psnet.ahrq.gov/issue/partnering-patients-and-families-design-patient-and-family-centered-health-care-system.

Kurian, M. A., McNeill, A., Lin, J. P., & Maher, E. R. (2008). Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Developmental Medicine & Child Neurology, 50(5), 334-342.

Kurian, M. A., Morgan, N. V., MacPherson, L., Foster, K., Peake, D. et al. (2008). Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology, 70(18), 1623-1632. https://pubmed.ncbi.nlm.nih.gov/18443314/. 10.1212/01.wnl.0000310986.48286.8e.

Kurtovic-Kozaric, A., Singer-Berk, M., Wood, J., Evangelista, E., Panwala, L., Hope, A., Heinrich, S. M., Baxter, S., & Kiel, M. J. (2023). An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration medRxiv. https://sciety.org/articles/activity/10.1101/2023.12.21.23300352. https://doi.org/10.1101/2023.12.21.23300352

Merchán-Haman, E. & Tauil, P. L. (2021). Proposta de classificação dos diferentes tipos de estudos epidemiológicos descritivos. Epidemiol. Serv. Saúde. 30(1). https://doi.org/10.1590/s1679-49742021000100026

Morgan, N. V., Westaway, S. K., Morton, J. E., et al. (2006). PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nature Genetics, 38(7), 752-754.

Nardocci, N., Zorzi, G., Farina, L., et al. (1999). Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. Neurology, 52(7), 1472-1478.

Ropper, A. H., & Samuels, M. A. (2009). Adams and Victor's Principles of Neurology (9th ed.). McGraw-Hill.

Shevell, M., Ashwal, S., Donley, D., et al. (1999). Practice parameter: evaluation of the child with global developmental delay. Neurology, 52(3), 588-600.

Tecklin, J. A. (2018). Fisioterapia Pediátrica. (5th ed.), Editora Manole.

Toassi, R. F. C. & Petry, P. C. (2021). Metodologia científica aplicada à área da Saúde. (2a ed.), Editora da UFRGS

World Health Organization. (2013). Como usar a CIF: Um manual prático para o uso da Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF). Versão pré-liminar para discussão. OMS.

Published

13/02/2024

How to Cite

SANTOS , A. B. A. M. .; FARIAS, K. S. . Facing the darkness: A six-month follow-up of Infantile Neuroaxonal Dystrophy. Research, Society and Development, [S. l.], v. 13, n. 2, p. e4813245039, 2024. DOI: 10.33448/rsd-v13i2.45039. Disponível em: https://www.rsdjournal.org/index.php/rsd/article/view/45039. Acesso em: 12 may. 2024.

Issue

Section

Health Sciences