Aspectos genéticos relacionados ao Transtorno do Espectro autista (TEA) / Genetic aspects related to Autistic Spectrum Disorder (TEA)

Ariane Bocaletto Frare, Juliana Quintaneiro Bizzotto, Luísa Pereira Ribeiro, Nathalia Mateus Borges

Abstract


O autismo ou transtorno do espectro autista (TEA) acomete pessoas de todas as classes sociais e etnias, mais os meninos do que as meninas. Os sintomas podem aparecer nos primeiros meses de vida, mas dificilmente são identificados precocemente, causando prejuízos persistentes na comunicação e interação social, bem como nos comportamentos que podem incluir os interesses e os padrões de atividades. O diagnóstico é essencialmente clínico, levando em conta o comprometimento e o histórico do paciente e norteia-se pelos critérios estabelecidos por DSM–V (Manual de Diagnóstico e Estatística da Sociedade Norte-Americana de Psiquiatria) e pelo CID10 (Classificação Internacional de Doenças da OMS). Apesar de não ter cura, terapias e medicamentos podem proporcionar qualidade de vida para os pacientes e suas famílias, sendo que cada paciente exige acompanhamento individual, de acordo com suas necessidades e deficiências. O transtorno do espectro autista é um distúrbio complexo e geneticamente heterogêneo, o que sempre dificultou a identificação de sua etiologia em cada paciente em particular e, por consequência, o aconselhamento genético das famílias; por isso a importância em estudar, para aprofundar e verificar os avanços que envolvem TEA, deste modo, será realizado uma pesquisa, revisão da literatura, por meio das bases de dados eletrônicas Scielo, Pubmed, ScienceDirect e Web of Science, utilizando-se os descritores, na língua inglesa: Autism spectrum disorde, Brain development, Diagnosis, Genetics, Epigenetic processes, para identificar quais são os possíveis genes envolvidos no TEA. 


Keywords


Autism spectrum disorder, Brain development, Diagnosis, Genetics, Epigenetic processes.

References


American Psychiatry Association. Diagnostic and Statistical Manual of Mental disorders - DSM5. 5th.ed. Washington: American Psychiatric Association, 2013.

Armin Raznahan, William Cutter, Francois Lalonde, Dene Robertson, Declan D. G. M. Murphy. Cortical anatomy in human X monosomy. NeuroImage, 49(4), 2915–2923. 2010

Badcock C. The imprinted brain: how genes set the balance between autism and psychosis. Epigenomics, 3(3), 345–359. 2011.

BHATT, S. et al. The global distribuition and burden of dengue. Macmillan Publishers Limited. Londres, vol. 496, p. 504-507, abr. 2013.

BLUMBERG, S.J.; BRAMLETT, M.D.; KOGAN, M.D.; SCHIEVE, L.A.; JONES, J.R.; LU, M.C. Changes in prevalence of parent-reported autism spectrum disorder in school-aged U.S. children: 2007 to 2011-2012. Natl Health Stat Report. Mar 20;(65):1-11, 1 p following 11. 2013.

BRASIL. Ministério da Saúde. Secretaria de Atenção à Saúde. Departamento de Ações

Programáticas Estratégicas. Diretrizes de Atenção à Reabilitação da Pessoa com Transtornos do Espectro do Autismo (TEA). Brasília: Ministério da Saúde, 2014. Disponível em Acessado em 03 de maio de 2018.

Cse.google.com/cse?ACESSO=index.php&cx=018366579487707043581%3Aht1mv77ckw4&c Currenti SA. Understanding and determining the etiology of autism. Cellular and Molecular Neurobiology, 30(2), 161–171.2010.

DEBORAH L. CHRISTENSEN, D.L. et al. Prevalence and Characteristics of Autism Spectrum Disorder Among 4-Year-Old Children in the Autism and Developmental Disabilities Monitoring Network. J Dev Behav Pediatr 37:1–8, 2016.

ElagozYuksel / M, Yuceturk B, Karatas OF, Ozen M, Dogangun B. The Altered Promoter Methylation Of Oxytocin Receptor Gene In Autism. Journal of Neurogenetics, 30(3-4), 280– 284.2016.

Eline J. Kraaijenvanger, Yujie He, Hannah Spencer, Alicia K. Smith, Marco P. M. Boks. Epigenetic variability in the human oxytocin receptor (OXTR) gene: A possible pathway from early life experiences to psychopathologies. Neuroscience & Biobehavioral Reviews, 96, 127– 142. 2019.

FAKHOURY, M., Autistic spectrum disorders: A review of clinical features, theories and diagnosis. Int. J. Dev. Neurosci. 2015.

Forsberg SL, Ilieva M, Maria Michel T. Epigenetics and cerebral organoids: promising directions in autism spectrum disorders. Translational Psychiatry, 8(1). 2018.

Giovanni Laviola, Elisa Ognibene, Emilia Romano, Walter Adriani, Flavio Keller. Gene– environment interaction during early development in the heterozygous reeler mouse: Clues for modelling of major neurobehavioral syndromes. Neuroscience & Biobehavioral Reviews, 33(4), 560–572. 2009.

GOMES PT, LIMA LH, BUENO MK, ARAÚJO LA, SOUZA NM. Autism in Brazil: a

systematic review of family challenges and coping strategies. J Pediatr (Rio J). 91: 111—21. 2015.

Gottesman II, Hanson DR. Human development: biological and genetic processes. Annual Review of Psychology, 56(1), 263–286. 2015.

Hall L, Kelley E. The contribution of epigenetics to understanding genetic factors in autism. Autism, 18(8), 872–881. 2013.

Hamza M, Halayem S, Mrad R, Bourgou S, Charfi F, Belhadj A. Implication de l’épigénétique dans les troubles du spectre autistique :revue de la littérature L’Encephale. Volume 43, Issue 4, August, Pages 374-381. 2017.

KOHANE, I.,S.; MCMURRY, A.; WEBER, G. The Co-Morbidity Burden of Children and Young Adults with ASD. PlosOne 7:e33224, 2012.

Kubota T, Mochizuki K. Epigenetic Effect of Environmental Factors on Autism

Ladd-Acosta C, Hansen KD, Briem E, Fallin MD, Kaufmann WE, Feinberg AP. Common DNA methylation alterations in multiple brain regions in autism. Molecular Psychiatry, 19(8), 862– 871. 2013.

LaSalle JM. A genomic point-of-view on environmental factors influencing the human brain methylome. Epigenetics, 6(7), 862–869. 2016.

LaSalle JM. Epigenomic strategies at the interface of genetic and environmental risk factors for autism. Journal of Human Genetics, 58(7), 396–401. 2013.

Lyall K, Croen L, Daniels J, Fallin MD, Ladd-Acosta C, Lee BK, Park BY, Snyder NW, Schendel D, Volk H, Windham GC, Newschaffer C. The Changing Epidemiology of Autism Spectrum Disorders. Annual Review of Public Health, 38(1), 81–102. 2016.

Mezzelani A, Raggi ME, Marabotti A, Milanesi L. Ochratoxin A as possible factor trigging autism and its male prevalence via epigenetic mechanism. Nutritional Neuroscience, 19(1), 43– 46. 2015.

Millan MJ. An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy. Neuropharmacology, 68, 2–82. 2013.

Modabbernia A, Velthorst E, Reichenberg A. Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses. Molecular Autism, 8(1). 2017.

Nakai N, Otsuka S, Myung J, Takumi T. Autism spectrum disorder model mice: Focus on copy number variation and epigenetics. Science China Life Sciences, 58(10), 976–984. 2015. of=FORID%3A0&q=autismo&sa=Busca Acessado em: 30 de abril de 2018.

Robinson EB, Neale BJM, Hyman SE.Genetic research in autism spectrum disorders. Curr Opin Pediatr. Dec; 27(6): 685–691.).2015.

RONALD, A.; HOEKSTRA, R.A. Autism Spectrum Disorders and Autistic Traits: A Decade of New Twin Studies. Am J Med Genet Part B 156:255–274, 2011.

S. C. Walker, F. P. McGlone. The social brain: Neurobiological basis of affiliative behaviours and psychological well-being. Neuropeptides, 47(6), 379–393. 2013.

Schanen NC. Epigenetics of autism spectrum disorders. Human Molecular Genetics, 15(suppl_2), R138–R150. 2006.

Spectrum Disorders. Journal of Environmental Research and Public Health, 13(5), 504.2016.

Spiers H, Hannon E, Schalkwyk LC, Smith R, Wong CC, O'Donovan MC, Bray NJ, Mill J. Methylomic trajectories across human fetal brain development. Genome Research, 25(3), 338– 352. 2015.

Varadinova M, Boyadjieva N. Epigenetic mechanisms: a possible link Between autism spectrum disorders and Fetal alcohol spectrum disorders. Pharmacological Research, 102, 71–80. 2015.

Vijayakumar NT, Judy MV. Autism Spectrum Disorders: Integration of the genome, transcriptome and the environment. Journal of the Neurological Sciences, 364, 167–176. 2016.

Vogel-Ciernia A, Wood MA. Neuron-specific chromatin remodeling: a missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders.Neuropharmacology, 80, 18–27. 2014.

Waye MMY, Cheng HY. Genetics and epigenetics of autism: A Review.Clinical Neurosciences, 72(4), 228–244. 2017.

WHO. Organização Mundial de Saúde. Autism spectrum disorders. Disponível em:

YEARGIN-ALLSOPP, M., RICE, C., KARAPURKAR, T., DOERNBERG, N., BOYLE, C., & MURPHY, C. The prevalence of autism: Metropolitan Atlanta. The Journal of the American Medical Association, 289, 49-55. 2003.

Mayer, Gustavo. L. P, Nascimento, Henrique. H., Pereira, Ian R., Salla, Lillian F. Relação entre epilepsia e transtorno do espectro autista: revisão da literatura. Brazilian. Journal of Development, Curitiba, v. 6, n. 1, p. 1768-1774, jan. 2020.




DOI: https://doi.org/10.34117/bjdv6n6-372

Refbacks

  • There are currently no refbacks.