Autismo no Brasil: uma revisão sobre estudos em neurogenética

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DOI:

https://doi.org/10.34024/rnc.2021.v29.12440

Palavras-chave:

Autismo, Brasil, Neurodesenvolvimento, Ciências Biológicas, Ciências da Saúde

Resumo

Objetivo. Identificar artigos, dissertações e teses brasileiras relacionadas a neurogenética do autismo, entre os anos de 2017 e 2020. Método. A triagem dos trabalhos publicados nas grandes áreas das ciências biológicas e ciências da saúde foi realizada por meio das bases de dados PUBMED, SCIELO e plataforma CAPES. Resultados. Identificaram-se 225 trabalhos, divididos em 123 artigos científicos, indexados nas bases de dados e 102 trabalhos de pós-graduação. Os critérios de inclusão e exclusão resultaram em 14 pesquisas acerca dos fatores genéticos e neurobiológicos na população brasileira. Conclusões. O crescimento exponencial de casos de autismo corrobora a relevância das pesquisas voltadas para a identificação e compreensão dos fatores moleculares no autismo. Devido à complexidade da etiologia, é fundamental a realização de mais estudos em neurogenética na população brasileira, capazes de auxiliar no desenvolvimento de testes moleculares mais efetivos no diagnóstico e tratamento deste transtorno.

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Referências

Robertson CE, Baron-Cohen S. Sensory perception in autism. Nature Rev Neurosci 2017;18:671-84. https://doi.org/10.1038/nrn.2017.112

Maenner MJ, Shaw KA, Baio J, Washington A, Patrick M, DiRienzo M, et al. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016. MMWR Surv Summ 2020;69:1-12. https://doi.org/10.15585/mmwr.ss6904a1

Olusanya BO, Davis AC, Wertlieb D, Boo N-Y, Nair MKC, Halpern R, et al. Developmental disabilities among children younger than 5 years in 195 countries and territories, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016. Lancet Glob Health 2018;6:e1100-21. https://doi.org/10.1016/S2214-109X(18)30309-7

Posar A, Visconti P. Tribute to Grunya Efimovna Sukhareva, the woman who first described infantile autism. J Ped Neurosci 2017;12:300-1. https://doi.org/10.4103/jpn.JPN_46_17

Grant JE, Chamberlain SR. Expanding the definition of addiction: DSM-5 vs. ICD-11. CNS Spectrums 2016;21:300-3. https://doi.org/10.1017/S1092852916000183

Brasil. Política Nacional de Proteção dos Direitos da Pessoa com Transtorno do Espectro Autista, e altera o § 3o do art. 98 da Lei no 8.112, de 11 de dezembro de 1990. Lei no 12.764. Brasília. 2012. http://www.planalto.gov.br/ccivil_03/_ato2011-2014/2012/lei/l12764.htm

Brasil. Ministério Da Saúde. Secretaria de Atenção à Saúde. Departamento de Ações Programáticas Estratégicas. Área Técnica de Saúde Da Pessoa Com Deficiência. Diretrizes de Atenção à Reabilitação Da Pessoa Com Transtornos Do Espectro Do Autismo (TEA). Brasília: MS; 2014.

https://bvsms.saude.gov.br/bvs/publicacoes/diretrizes_atencao_reabilitacao_pessoa_autismo.pdf

Blumberg SJ, Zablotsky B, Avila RM, Colpe LJ, Pringle BA, Kogan MD. Diagnosis lost: Differences between children who had and who currently have an autism spectrum disorder diagnosis. Autism 2016;20:783-95. https://doi.org/10.1177/1362361315607724

Rylaarsdam L, Guemez-Gamboa A. Genetic Causes and Modifiers of Autism Spectrum Disorder. Front Cell Neurosci 2019;13:1-15. https://doi.org/10.3389/fncel.2019.00385

Takahashi N, Harada T, Nishimura T, Okumura A, Choi D, Iwabuchi T, et al. Association of Genetic Risks with Autism Spectrum Disorder and Early Neurodevelopmental Delays among Children without Intellectual Disability. JAMA Network Open 2020;3:1-9. https://doi.org/10.1001/jamanetworkopen.2019.21644

Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for autism resides with common variation. Nat Gen 2014;46:881-5. https://doi.org/10.1038/ng.3039

Wiśniowiecka-Kowalnik B, Nowakowska BA. Genetics and epigenetics of autism spectrum disorder—current evidence in the field. J App Gen 2019;60:37-47. https://doi.org/10.1007/s13353-018-00480-w

Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, et al. SFARI Gene 2.0: A community-driven knowledgebase for the autism spectrum disorders (ASDs). Molecular Autism 2013;4:2-4. https://doi.org/10.1186/2040-2392-4-36

Feliciano P, Daniels AM, Snyder LG, Beaumont A, Camba A, Esler A, et al. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research. Neuron 2018;97:488-93.

https://doi.org/10.1016/j.neuron.2018.01.015

Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. The Familial Risk of Autism. JAMA 2014;311:1770. https://doi.org/10.1001/jama.2014.4144

Zhao H, Wang Q, Yan T, Zhang Y, Xu H, Yu H, et al. Maternal valproic acid exposure leads to neurogenesis defects and autism-like behaviors in non-human primates. Translational Psychiatry [Internet]. 2019; 21:9(1). https://doi.org/10.1038/s41398-019-0608-1

Modabbernia A, Velthorst E, Reichenberg A. Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses. Mol Autism 2017;8:13. https://doi.org/10.1186/s13229-017-0121-4

Ouzzani M, Hammady H, Fedorowicz Z, Elmagarmid A. Rayyan-a web and mobile app for systematic reviews. Syst Rev 2016;5:1-10. https://doi.org/10.1186/s13643-016-0384-4

Guloksuz SA, Abali O, Cetin EA, Gazioglu SB, Deniz G, Yildirim A, et al. Elevated plasma concentrations of S100 calcium-binding protein B and tumor necrosis factor alpha in children with autism spectrum disorders. Rev Bras Psiquiatr 2017;39:195-200. https://doi.org/10.1590/1516-4446-2015-1843

Sánchez-Sánchez SM, Magdalon J, Griesi-Oliveira K, Yamamoto GL, Santacruz-Perez C, Fogo M, et al. Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder. Hum Mutat 2018;39:1372-83. https://doi.org/10.1002/humu.23584

Ribeiro LOP, Vargas-Pinilla P, Kappel DB, Longo D, Ranzan J, Becker MM, et al. Evidence for Association Between OXTR Gene and ASD Clinical Phenotypes. J Mol Neurosci 2018;65:213-21. https://doi.org/10.1007/s12031-018-1088-0

Guzman GEC, Sato JR, Vidal MC, Fujita A. Identification of alterations associated with age in the clustering structure of functional brain networks. PLoS ONE 2018;13:1-14. https://doi.org/10.1371/journal.pone.0195906

Russo FB, Freitas BC, Pignatari GC, Fernandes IR, Sebat J, Muotri AR, et al. Modeling the Interplay Between Neurons and Astrocytes in Autism Using Human Induced Pluripotent Stem Cells. Biol Psychiatr 2018;83:569-78. https://doi.org/10.1016/j.biopsych.2017.09.021

Griesi-Oliveira K, Suzuki AM, Alves AY, Mafra ACCN, Yamamoto GL, Ezquina S, et al. Actin cytoskeleton dynamics in stem cells from autistic individuals. Sci Rep 2018;8:1-10. https://doi.org/10.1038/s41598-018-29309-6

Antunes G, Faria Da Silva SF, Simoes De Souza FM. Mirror Neurons Modeled Through Spike-Timing-Dependent Plasticity are Affected by Channelopathies Associated with Autism Spectrum Disorder. Inter J Neural Systems 2018;28:1-15. https://doi.org/10.1142/S0129065717500587

Ramos TC, Balardin JB, Sato JR, Fujita A. Abnormal cortico-cerebellar functional connectivity in autism spectrum disorder. Front

Syst Neurosci 2019;12:1-7. https://doi.org/10.3389/fnsys.2018.00074

Ferreira JFB, Batista JS, Fantin C. Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil. Anais Acad Bras Cienc 2019;91:1-6. https://doi.org/10.1590/0001-3765201920180882

Sampaio GLA, Martins GLS, Paredes BD, Nonaka CKV, Silva KN, Rossi EA, et al. Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency. Stem Cell Res 2019;39:101488. https://doi.org/10.1016/j.scr.2019.101488

Schuch JB, Paixão-Côrtes VR, Longo D, Roman T, Riesgo RS, Ranzan J, et al. Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder. J Mol Neurosci 2019;69:140-9. https://doi.org/10.1007/s12031-019-01343-7

Chaves TF, Oliveira LF, Ocampos M, Barbato IT, Luca GR, Barbato Filho JH, et al. Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil. BMC Med Genom 2019;12:1-13. https://doi.org/10.1186/s12920-019-0496-5

Nascimento GR. Análise Cromossômica Por Microarranjo Na Investigação De Alterações Genômicas Estruturais No Transtorno Do Espectro Autista - TEA. Αγαη 2017;8:55. http://tede2.pucgoias.edu.br:8080/handle/tede/3706

Gonçalves MS. Pesquisa De Alterações Genéticas Em Pacientes Com Transtorno Do Espectro Autista (Tea) Em Uma Amostra De Minas Gerais, Brasil: Uma Avaliação Genético-Molecular (Dissertação). Belo Horizonte: Universidade Federal de Minas Gerais; 2019. https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=7924928

Baek ST, Copeland B, Yun E-J, Kwon S-K, Guemez-Gamboa A, Schaffer AE, et al. An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. Nat Med 2015;21:1445-54. https://doi.org/10.1038/nm.3982

Lieberman O, Pigulevskiy I, Post M, Sulzer D, Santini E. mTOR suppresses macroautophagy during postnatal development of the striatum. BioRxiv 2019;423:536680. https://doi.org/10.1101/536680

Trifonova EA, Klimenko AI, Mustafin ZS, Lashin SA, Kochetov AV. The mTOR signaling pathway activity and vitamin d availability control the expression of most autism predisposition genes. International J Mol Sci 2019;20:1-14. https://doi.org/10.3390/ijms20246332

Richards C, Jones C, Groves L, Moss J, Oliver C. Prevalence of autism spectrum disorder phenomenology in genetic disorders: A systematic review and meta-analysis. Lancet Psychiatr 2015;2:909-16. https://doi.org/10.1016/S2215-0366(15)00376-4

Postema MC, van Rooij D, Anagnostou E, Arango C, Auzias G, Behrmann M, et al. Altered structural brain asymmetry in autism spectrum disorder in a study of 54 datasets. Nature Comm 2019;10:1-12. https://doi.org/10.1038/s41467-019-13005-8

Yang S, Guo X, Dong X, Han Y, Gao L, Su Y, et al. GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders. Sci Rep 2017;7:1-9. https://doi.org/10.1038/s41598-017-03666-0

Lunden JW, Durens M, Phillips AW, Nestor MW. Cortical interneuron function in autism spectrum condition. Ped Res 2019;85:146-54. https://doi.org/10.1038/s41390-018-0214-6

Romero M, Aguilar JM, Del-Rey-Mejías Á, et al. Psychiatric comorbidities in autism spectrum disorder: A comparative study between DSM-IV-TR and DSM-5 diagnosis. Inter J Clin Health Psychol 2016;16:266-75. https://doi.org/10.1016/j.ijchp.2016.03.001

El-Ansary A, Hassan WM, Qasem H, Das UN. Identification of biomarkers of impaired sensory profiles among autistic patients. PLoS One 2016;11:1-19. https://doi.org/10.1371/journal.pone.0164153

Croen LA, Zerbo O, Qian Y, Massolo ML, Rich S, Sidney S, et al. The health status of adults on the autism spectrum. Autism 2015;19:814-23. https://doi.org/10.1177/1362361315577517

Chisholm K, Lin A, Abu-Akel A, Wood SJ. The association between autism and schizophrenia spectrum disorders: A review of eight alternate models of co-occurrence. Neurosci Biobehav Rev 2015;55:173-83. https://doi.org/10.1016/j.neubiorev.2015.04.012

Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, et al. Identification of common genetic risk variants for autism spectrum disorder. Nat Gen 2019;51:431-44. https://doi.org/10.1038/s41588-019-0344-8

Plana-Ripoll O, Pedersen CB, Holtz Y, Benros ME, Dalsgaard S, Jonge P, et al. Exploring Comorbidity Within Mental Disorders among a Danish National Population. JAMA Psychiatr 2019;76:259-70. https://doi.org/10.1001/jamapsychiatry.2018.3658

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Publicado

2021-11-11

Como Citar

Oliveira Evangelho, V. G., da Mota Ramalho Costa, F., Castro, H. C., Lamim Bello, M., & Rodrigues Amorim , M. (2021). Autismo no Brasil: uma revisão sobre estudos em neurogenética . Revista Neurociências, 29, 1–20. https://doi.org/10.34024/rnc.2021.v29.12440

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Seção

Artigos de Revisão
Recebido: 2021-07-20
Aceito: 2021-09-30
Publicado: 2021-11-11