First clinical genetic study of intellectual disability in the People's Republic of Angola
Keywords:
Intellectual disability, mental retardation, genetics/intellectual disability, etiology/intellectual disability, causes/mental retardationAbstract
Introduction: The American Association on Mental Retardation characterizes intellectual disability as significant limitations in intellectual functioning and adaptive behavior (practical, social, and conceptual skills), beginning before the age of 18.
Objective: To characterize the causes of intellectual disability in a sample of institutionalized children at the Special School in Benguela in the People's Republic of Angola.
Material and Methods: A prospective cross-sectional descriptive observational study was carried out on a population of 139 schoolchildren with intellectual disabilities. Guvtavson etiopathogenic classification was applied to define the cause.
Results: Prenatal etiology was the most frequent (45.3%), followed by postnatal (29.5%) and perinatal ones (18.0%). Environmental etiology (20.9%) was the most prevalent in the prenatal category, highlighting alcohol consumption (8.6%). In the perinatal stage, hypoxia at birth (5.0%) stood out. In the postnatal stage, cerebral malaria (15.1%) was the first cause, being also the third most predominant among all categories. In addition, 80% of the cases studied had at least one relative with the same disability. In summary, 68.4% of the cases had an environmental cause, being totally preventable.
Conclusions: The study corroborated that the noxas that operate in the prenatal stage affect the appearance of intellectual disability and is distinguished by positioning postnatal causes; cerebral malaria in second place. The factors of an environmental nature that operate both in the prenatal and postnatal stages are most influencing, but preventable.
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References
1. Campo BA, Hernández FA, Pérez VA, Toledo GGC, Fernández Perrone AL. Discapacidad intelectual. Protoc diagn ter pediatr [Internet]. 2022 [Citado 05/03/2023];1:51-64. Disponible en: https://www.aeped.es/sites/default/files/documentos/06.pdf
2. Ramiro CA. Atención a la diversidad [Internet]. España: Universidad de Jaén; 2021 [Citado 05/03/2023]. Disponible en: file:///D:/TRABAJO%20CURSO%202023%20CUBA-ANGOLA/CONGRESO%20RACS%202023/RETRASO%20MENTAL/bibliografia/2022-4.pdf
3. Madson Márcio de FL. A deficiência intelectual: história e estigmatização imposta as pessoas ao longo dos tempos. Revista Ibero-Americana Humanidades Ciências Educação [Internet]. 2022 [Citado 05/03/2023];8(1):748-60. Disponible en: https://periodicorease.pro.br/rease/article/view/3866
4. Avariaa MA. Aproximación clínica al retardo del desarrollo psicomotor y discapacidad intelectual. Rev Med Clin Condes [Internet]. 2022 [Citado 05/03/2023]; 33(4):379-86. Disponible en: https://www.sciencedirect.com/science/article/pii/S0716864022000761
5. Schwartzman SJ, Lederman GRV. Deficiência intelectual: causas e importância do diagnóstico e intervenção precoces. Inc Soc [Internet]. 2017 [Citado 05/03/2023];10(2):17-27. Disponible en: https://revista.ibict.br/inclusao/article/view/4028
6. Jeevanandam L. Perspectives of intellectual disability in Asia: epidemiology, policy, and services for children and adults. Curr Opin Psychiatry [Internet]. 2009 [Citado 10/03/2020];22(5):462-8. Disponible en: https://pubmed.ncbi.nlm.nih.gov/19625968/
7. Maulik PK, Mascarenhas MN, Mathers CD, Dua T, Saxena S. Prevalence of intellectual disability: a meta-analysis of population-based studies. Res Dev Disabil [Internet]. 2011 [Citado 05/03/2023];32(2):419-36. Disponible en: https://pubmed.ncbi.nlm.nih.gov/21236634/
8. Arguello JM, Lardoeyt-Ferrer R, Barreno AC, Mengana LY, Torres JI, Hernández JA, et al. Caracterización de los eventos causales prenatales, perinatales y postnatales relacionadas con la discapacidad intelectual en la República del Ecuador. Rev Cubana Genet Comunit [Internet]. 2011 [Citado 05/03/2018];5(2-3):38-43. Disponible en: https://pesquisa.bvsalud.org/portal/resource/pt/cum-71546
9. Fioravante Diniz NL, Parlato-Oliveira E, Ayres Pimenta PG, Arantes de Araújo L, Ribeiro Valadares E. Autism and Down syndrome: early identification and diagnosis. Arq Neuropsiquiat [Internet]. 2022 [Citado 05/03/2023];80(6):620-30. Disponible en: https://pubmed.ncbi.nlm.nih.gov/35946706/
10. Lantigua CA, Portuondo SM, Mesa CT, Lardoeyt-Ferrer R. Epidemiology of Prenatal Genetic and Environmental Factors of Mental Retardation in Cuba. MEDICC Review [Internet]. 2008 [Citado 05/03/2018];10(1):29-36. Disponible en: https://pubmed.ncbi.nlm.nih.gov/21483354/
11. Martín del Valle F, García Pérez A, Gustavson, Losada del Pozo R. Trastornos del espectro del autismo. Protoc diagn ter pediatr [Internet]. 2022 [Citado 05/03/2023];1:75-83. Disponible en: https://www.aeped.es/sites/default/files/documentos/08.pdf
12. Perdomo-Arrién JC, Sao PM, Ceballos LJE. Etiología prenatal en la discapacidad intelectual en la región andina venezolana. Rev Cubana Genet Comunit [Internet]. 2011 [Citado 05/03/2018];5(2-3):89-97. Disponible en: https://www.medigraphic.com/cgi-bin/new/resumen.cgi?IDARTICULO=52346
13. Cobas-Ruiz M, Pena ZE, Sao PM, Pereira IE, Hernández JA, Fonseca GM. La investigación-acción en la atención de personas con discapacidad en países del ALBA. Rev Cubana Genet Comunit [Internet]. 2011 [Citado 05/03/2018];5(2-3):20-31. Disponible en: https://www.medigraphic.com/pdfs/revcubgencom/cgc-2011/cgc112c.pdf
14. Lardoeyt- Ferrer R, Vega RJ, González SG, De Léon-Ojeda NE, Arguello JM, Camacho A, et al. Caracterización etiológica de la discapacidad intelectual en la República del Ecuador. Año 2010. Rev Cubana Genet Comunit [Internet]. 2011 [Citado 05/03/2018];5(2-3):32-7. Disponible en: https://www.medigraphic.com/pdfs/revcubgencom/cgc-2011/cgc112d.pdf
15. OMIM. An Online Catalog of Human Genes and Genetic Disorders. [Internet]. Baltimore: OMIM; 2023 [Citado 05/03/2023]. Disponible en: https://www.omim.org/
16. Taboada-Lugo N, Téllez BO, Rodríguez LMA, Camacho AO, Estévez PO, Serraniega DR, et al. Discapacidad intelectual. Aproximación a las principales causas en el Estado Plurinacional de Bolivia. Rev Cubana Genet Comunit [Internet]. 2011 [Citado 05/03/2018];5(2-3):50-6. Disponible en: https://pesquisa.bvsalud.org/portal/resource/pt/cum-71548
17. Portuondo SM, Sarabia GFA, Díaz GE, Fonseca BL, Farrat PRI, Sánchez MY. Caracterización clínico genética de la discapacidad intelectual en el Policlínico “Dr. Carlos J. Finlay”, 1997-2014. Panorama Cuba Salud [Internet]. 2017 [Citado 05/03/2018];12(1):11-8. Disponible en: https://www.redalyc.org/articulo.oa?id=477355400003
18. Lardoeyt-Ferrer R, Guas RH, Estévez PO, Arguello JM, Pujal RR, Madera HH, et al. Etiología genética en el origen de la discapacidad intelectual en la República del Ecuador. Rev Cubana Genet Comunit [Internet]. 2011 [Citado 05/03/2018];5(2-3):44-9. Disponible en: https://www.medigraphic.com/pdfs/revcubgencom/cgc-2011/cgc112f.pdf
19. Leonard H, Montgomery A, Wolff B, Strumpher E, Masi A, Woolfenden S, et al. A systematic review of the biological, social, and environmental determinants of intellectual disability in children and adolescents. Front Psychiatry [Internet]. 2022 [Citado 05/07/2023];13:926681. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453821/
20. Muteka TF. Consumo de Álcool em Angola: estudo com militares e civis [Tesis Maestria]. Portugal: Instituto superior de ciências da Ssaúde – Norte; 2012 [Citado 05/07/2023]. Disponible en: https://repositorio.cespu.pt/bitstream/handle/20.500.11816/254/Tese%20de%20Mestrado_Faustino%20Tchimbundo%20Muteka.pdf?sequence=1&isAllowed=y
21. Abarca Barriga HH. Avances genómicos de la última década y su influencia en el enfoque diagnóstico de la discapacidad intelectual. Genomic advances in the last decade and their influence in the diagnosis of intellectual disability. Rev Neuropsiquiatr [Internet]. 2021 [Citado 05/03/2023];84(1):33-50. Disponible en: http://dx.doi.org/10.20453/rnp.v84i1.3936
22. Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. X-Linked intellectual disability update 2022. Am J Med Genet A [Internet]. 2023 [Citado 05/03/2023];191(1):144-59. Disponible en: https://doi.org/10.1002/ajmg.a.63008
23. OMIM. An Online Catalog of Human Genes and Genetic Disorders. Updated March 24, 2023. # 251200. MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 [Internet]. Baltimore: OMIM; 2023 [Citado 05/03/2023]. Disponible en: https://www.omim.org/entry/251200?search=251200&highlight=251200
24. Portuondo SM, Ruiz CM, Lardoeyt-Ferrer R, Ulloa PLE, Montiel BZV, Saiza ID. Peculiaridades del estudio biopsicosocial de personas con discapacidad en San Vicente y las Granadinas. Rev Cubana Genet Comunit [Internet]. 2017 [Citado 05/03/2018];11(1):27-34. Disponible en: https://revgenetica.sld.cu/index.php/gen/article/view/27
25. Pérez-Villegas ME, Ruiz R, Bachiller SD, Ventura F, Armengo AJl, Rosa JL. The HERC proteins and the nervous system. Semin Cell Dev Biol [Internet]. 2022 [Citado 05/03/2018];132:5-15. Disponible en: https://pubmed.ncbi.nlm.nih.gov/34848147/
26. Liaci C, Prandi L, Pavinato L, Brusco A, Maldotti M, Molineris I, et al. The emerging roles of long non-coding RNAs in intellectual disability and related neurodevelopmental disorders. Int J Mol Sci [Internet]. 2022 [Citado 05/03/2023];23(11):6118. Disponible en: https://pubmed.ncbi.nlm.nih.gov/35682796/
27. Kinhama CV, Lucas R, Samanta Y, Pagamento C. Ocorrência da prevalência da malária aos munícipesda cela. REASE [Internet]. 2023 [Citado 05/03/2023]; 9(023). Disponible en: https://periodicorease.pro.br/rease/article/view/8601
28. Anjorin A. Malaria profile and socioeconomic predictors among under-five children: an analysis of 11 sub-Saharan African countries. Malar J [Internet]. 2023 [Citado 05/03/2023];22:55. Disponible en: https://www.who.int/news-room/questions-and-answers/item/malaria?gclid=CjwKCAjwoIqhBhAGEiwArXT7K-kBbIyEpDF4AyOgaSe_xkX-EQa94r6B5gNOJLGPUaL-RfLgYT9z_RoCSCMQAvD_BwE
29. Lichtenstein P, Tideman M, Sullivan PF, Serlachius E, Larsson H, Kuja-Halkola R, et al. Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden. J Child Psychol Psychiatry [Internet]. 2022 [Citado 05/03/2023];63(9):1092-102. Disponible en: https://doi.org/10.1111/jcpp.13560
30. Legüe M. Relevancia de los mecanismos epigenéticos en el neurodesarrollo normal y consecuencias de sus perturbaciones. Rev Med Clin Condes [Internet]. 2022 [Citado 05/03/2023];33(4):347-57. Disponible en: https://www.journals.elsevier.com/revista-medica-clinica-las-condes
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