PREVALENCE OF OPHTHALMOLOGICAL MANIFESTATIONS IN PATIENTS WITH DOWN SYNDROME FROM THE ASSOCIATION OF PARENTS AND FRIENDS OF EXCEPTIONAL PEOPLE (APAE) IN CASCAVEL-PR.

Authors

DOI:

https://doi.org/10.61164/rmnm.v3i3.2183

Keywords:

Down's syndrome, Ocular manifestations, Ophthalmology, APAE

Abstract

Down Syndrome was described 150 years ago by John Langdon Down, and its etiology is a genetic alteration resulting from the third copy of chromosome 21 during embryonic division. The high incidence of Down Syndrome makes it the most prevalent chromosomal modification in the world, it is estimated that there are a total of 300,000 people with Down Syndrome in Brazil. This syndrome leads to the development of peculiar characteristics in individuals who have it, in addition to favoring the appearance of several pathologies, among them, ophthalmological ones, being the focus of this research. The main ophthalmological alterations reported in the literature are refractive and epicanthus errors. This research aims to carry out an epidemiological survey of the main ophthalmological manifestations, through the analysis of medical records of patients from APAE in Cascavel-PR. With this, it is expected that the data collected will serve to draw the attention of guardians and professionals on the subject, since there is a greater quantitative and qualitative prevalence of ocular pathologies in people with Down Syndrome and a difficulty in diagnosing them. In this way, an early and routine ophthalmological evaluation promotes the well-being and better quality of life of these people.

References

Atenção da Saúde da Pessoa com Deficiência (PRONAS/PCD). Diário Oficial da União [Internet]. 2020. Disponível em: https://bvsms.saude.gov.br/bvs/saudelegis/se/2020/prt0273_26_03_2020.html. Acesso em 08 de nov de 2022.

FBASD. Federação Brasileira das Associações de Síndrome de Down. Síndrome de Down. Disponível em: http://federacaodown.org.br/sindrome-de-down/. Acesso em 08 de novembro de 2022.

FEDERAÇÃO NACIONAL DAS APAES. Quem somos. Disponível em: https://apaebrasil.org.br/conteudo/quem-somos. Acesso em 08 de novembro de 2022.

FONSECA EC, ARRUDA GV, ROCHA EM. Olho seco: etiopatogenia e tratamento. Arq Bras Oftalmol [Internet]. 2010Mar;73(2):197–203. Disponível em: https://doi.org/10.1590/S0004-27492010000200021. Acesso em 20 de outubro de 2023. DOI: https://doi.org/10.1590/S0004-27492010000200021

GARDINER P.A. Visual defects in cases of Down's syndrome and in other mentally handicapped children. British Journal of Ophthalmology. Jul de 1967 ;51(7):469-74. doi: 10.1136/bjo.51.7.469. Acesso em 20 de outubro de 2023. DOI: https://doi.org/10.1136/bjo.51.7.469

HAN, D.H.; KIM, K.H.; PAIK, H.J. Refractive errors and strabismus in Down’s syndrome in Korea. Korean journal of ophthalmology: KJO [Internet]. 2012 Dec 1 [cited 2021 Jul 15];26(6):451–4. Disponível em: https://pubmed.ncbi.nlm.nih.gov/23204801/ . Acesso em 15 de novembro de 2023. DOI: https://doi.org/10.3341/kjo.2012.26.6.451

HAUGEN, O.H.; HØVDING, G.; RIISE, R. Øyeforandringer ved Downs syndrom. Tidsskrift for Den norske legeforening [Internet]. 2004 Jan 22 [cited 2023 Nov 30]; Disponível em: https://tidsskriftet.no/2004/01/tema-oyesykdommer/oyeforandringer-ved-downs-syndrom. Acesso em 05 de maio de 2023.

KE, X.; LIU, J. Deficiência Intelectual. In Rey JM (ed), IACAPAP e-Textbook of Child and Adolescent Mental Health. (edição em Português; Dias Silva F, ed). Genebra: International Association for Child and Adolescent Psychiatry and Allied Professions 2015.

LAIGNIER, M.R. et al. Down Syndrome in Brazil: Occurrence and Associated Factors. International Journal of Environmental Research and Public Health. 14 de nov de 2021;18(22):11954. Disponível em: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620277/. Acesso em 08 novembro de 2022. DOI: https://doi.org/10.3390/ijerph182211954

Ministério da Saúde (BR). Gabinete do Ministro. Portaria N° 273, de 24 de março de 2020. Dispõe sobre pedido de readequação de projeto executado no âmbito do Programa Nacional de Apoio à Atenção da Saúde da Pessoa com Deficiência (PRONAS/PCD). Diário Oficial da União [Internet]. 2020. Disponível em:https://bvsms.saude.gov.br/bvs/saudelegis/se/2020/prt0273_26_03_2020.html .Acesso em 08 de nov de 2022.

MOREIRA, L.M.; EL-HANI, C.N.; GUSMÃO, F.A. A síndrome de Down e sua patogênese: considerações sobre o determinismo genético. Brazilian Journal of Psychiatry. 1 de jun de 2000;22:96–9. Disponível em: https://www.scielo.br/j/rbp/a/XTSyqsLMHs56f4LmdznG4Vk/?lang=pt . Acesso em 08 de novembro de 2022. DOI: https://doi.org/10.1590/S1516-44462000000200011

MUÑOZ-ORTIZ, J. et al. Prevalence of ophthalmological manifestations in pediatric and adolescent populations with Down syndrome: a systematic review of the literature. Systematic Reviews. 2022; vol 11, n° 75. https://doi.org/10.1186/s13643-022-01940-5. Acesso em 08 de nov de 2022. DOI: https://doi.org/10.1186/s13643-022-01940-5

NUSSBAUM, ROBERT L.; MCINNES, RODERICK R.; WILLARD, HUNTINGTON F. Thompson & Thompson – Genética Médica. 7° ed. Pontes LFS, tradutor. Rio de Janeiro: Editora Elsevier, 2008. p. 204.

SCHAFER, G.B.; JUNIOR, J.N.T. Genética Médica: uma abordagem integrada. 1° ed. Vargas AE, tradutor. Porto Alegre: AMGH, 2015. p. 126.

SILVA, A.A. et al. Avaliação das disfunções dos hormônios tireoidianos em pacientes com síndrome de down: revisão de literatura. Revista Científica da Faculdade Quirinópolis [Internet]. 2021 Sep 17 [cited 2023 Nov 30];3(11):95–121. Disponível em: https://recifaqui.faqui.edu.br/index.php/recifaqui/article/view/111/103. Acesso em 05 de maio de 2023.

SOARES, A. et al. metodologia da pesquisa científica [internet]. 1° edição Universidade Federal de Santa Maria. 2018. Disponível em: https://repositorio.ufsm.br/bitstream/handle/1/15824/Lic_Computacao_Metodologia-Pesquisa-Cientifica.pdf?sequence=1. Acesso em: 05 de março de 2024.

STEPHEN, E. et al. Surveillance of vision and ocular disorders in children with Down syndrome. Developmental Medicine & Child Neurology. 2007 Jul;49(7):513–5. DOI: https://doi.org/10.1111/j.1469-8749.2007.00513.x

ZAGO, M.I. et al. Association between ocular abnormalities and systemic diseases in Down Syndrome patients. Revista Brasileira de Oftalmologia. 2020;79(3). DOI: https://doi.org/10.5935/0034-7280.20200038

Published

2024-03-27

How to Cite

Charnoski Gritz, C., Lago, R. ., Augusto Fernandes Machado, R. ., & Rebeca Hoffmann, B. . (2024). PREVALENCE OF OPHTHALMOLOGICAL MANIFESTATIONS IN PATIENTS WITH DOWN SYNDROME FROM THE ASSOCIATION OF PARENTS AND FRIENDS OF EXCEPTIONAL PEOPLE (APAE) IN CASCAVEL-PR. Revista Multidisciplinar Do Nordeste Mineiro, 3(3). https://doi.org/10.61164/rmnm.v3i3.2183