The Complexity of Autism: From Genetic to Behavior, from Awareness to Inclusion
DOI:
https://doi.org/10.14295/idonline.v17i68.3831Keywords:
autism, genetic mutation, connectivity, behaviorAbstract
This article aims to address important aspects of Autism Spectrum Disorder (ASD) from the beginning of life, to understand that the atypical behavior of that child reflects a brain that works in a different way. There is a growing number of diagnoses worldwide, which may indicate that teachers may at some points have at least one student with ASD in their classroom. Regarding the method, a narrative review was carried out by searching for articles in different search engines, using keywords and terms pertinent to the topic. Despite the undefined etiology, there is evidence of inherited and de novo variants, which end up causing alterations in neurodevelopment and are reflected in atypical behaviours. The conclusion is that a broad knowledge of ASD is fundamental for the teacher to understand and support the child in the process of inclusion.
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ACHARYA, Sabitri; SHARMA, Kalpana. Lived experiences of mothers raising children with autism in chitwan district, nepal. Autism Research and Treatment, 2021. https://doi.org/10.1155/2021/6614490 DOI: https://doi.org/10.1155/2021/6614490
AMERICAN PSYCHIATRIC ASSOCIATION. Manual de diagnóstico e estatística das perturbações mentais (5th ed.). Lisboa: Climepsi Editores, 2014.
AYDOS, Valeria. A (des) construção social do diagnóstico de autismo no contexto das políticas de cotas para pessoas com deficiência no mercado de trabalho. Anuario Antropológico, v. 44, n. 1, p. 93-116, 2019. https://doi.org/10.40000/aa.3492 DOI: https://doi.org/10.4000/aa.3492
BAI, Dan et al. Association of genetic and environmental factors with autism in a 5 – country cohort. JAMA Psychiatry, v. 76, n. 10, p. 1035-1043, 2019. https://doi.org/10.1001/jamapsychiatry.2019.1411 DOI: https://doi.org/10.1001/jamapsychiatry.2019.1411
BOETS, Bart et al. Alterations in the inferior longitudinal fasciculus in autism and associations with visual processing: A diffusion-weighted MRI study. Molecular Autism, v. 9, n. 1, p. 1-14, 2018. https://doi.org/10.1186/s13229-018-0188-6 DOI: https://doi.org/10.1186/s13229-018-0188-6
CENTER ON THE DEVELOPING CHILD AT HAVARD UNIVERSITY. Das melhores práticas aos impactos transformadores: Uma abordagem baseada na ciência para a construção de um futuro mais promissor para crianças pequenas e suas famílias. Tradução de Leonardo Abramowicz. São Paulo: Fundação Maria Cecília Souto Vidigal, 2017.
CENTER ON THE DEVELOPING CHILD AT HAVARD UNIVERSITY. Construção do sistema de “controle de tráfego aéreo” do cérebro: como as primeiras experiências moldam o desenvolvimento das funções executivas. Estudo n. 11, 2011. https://www.developingchild.harvard.edu
CHAN, Melody. M. Y.; HAN, Yvonne M. Y. Differential mirror neuron system (MNS) activation during action observation with and withouth social-emotional components in autism: a meta-analysis of neuroimaging studies. Molecular Autism, v. 11, n. 1, p. 72, 2020. https://doi.org/10.1186/s13229-020-00374-x DOI: https://doi.org/10.1186/s13229-020-00374-x
COLA, Meredith L. et al. Sex differences in the first impressions made by girls and boys with autism. Molecular Autism, v. 11, n. 49, 2020. https://doi.org/10.1186/s13229-020-00336-3 DOI: https://doi.org/10.1186/s13229-020-00336-3
COMITÊ CIENTÍFICO DO NÚCLEO CIÊNCIA PELA INFÂNCIA. Funções executivas e desenvolvimento na primeira infância: Habilidades necessárias para a autonomia. Estudo nº III, 2016. https://www.ncpi.org.br
COMITÊ CIENTÍFICO DO NÚCLEO CIÊNCIA PELA INFÂNCIA. O impacto do desenvolvimento na primeira infância. Estudo, nº 1, 2014. https://www.ncpi.org.br
COURCHESNE, Eric et al. The ASD living biology: from cell proliferation to clinical phenotype. Molecular Psychiatry, v. 14, n. 1, p. 88-107, 2019. https://doi.org/10.1038/s41380-018-0056-y DOI: https://doi.org/10.1038/s41380-018-0056-y
CUI, Tingkai et al. P300 amplitude and latency in autism spectrum disorder: a meta-analysis. European child & adolescent psychiatry, v. 26, n. 2, p. 177-190, 2017. https://doi.org/10.1007/s00787-016-0880-z DOI: https://doi.org/10.1007/s00787-016-0880-z
DAJANI, Dina R.; UDDIN, Lucina Q. Demystifying cognitive flexibility: Implications for clinical and developmental neuroscience. Trends Neuroscience, v. 38, n. 9, p. 571-8, 2015. https://doi.org/10.1016/j.tins.2015.07.003 DOI: https://doi.org/10.1016/j.tins.2015.07.003
EDELSON, Stephen M. Comparison of autistic individual who engage in self-injurious behavior aggression, and both behaviors. Pediatric Reports, v. 13, n .4, p. 558-565, 2021. https://doi.org/10.3390/pediatric13040066 DOI: https://doi.org/10.3390/pediatric13040066
FREITAS, M. C. Educação inclusiva: Diferenças entre acesso, acessibilidade e inclusão. Cadernos de Pesquisa [online], v. 53, n. 1, 2023a. https://doi.org/10.1590/1980531410084 DOI: https://doi.org/10.1590/1980531410084
FREITAS, M.C. Uso incorreto de conceitos é um obstáculo para a efetiva escolarização de alunos com deficiência. SciELO em Perspectiva [online], 2023b. Consultado em: https:// humanas.blog.scielo.org/blog/2023/07/10/uso-incorreto-de-conceitos-e-um-obstaculo-para-a-efetiva-escolarizacao/
GAUGLER, Trent et al. Most genetic risk for autism resides with common variation. Nature Genetics, v. 46, n. 8, p. 881-5, 2014. https://doi.org/10.1038/ng.3039 DOI: https://doi.org/10.1038/ng.3039
GAIATO, Mayra. Autismo: Diagnóstico Precoce – saiba como identificar os sintomas em crianças pequenas. São Paulo: Instituto Singular, 2016. https://institutosingular.org/wp-content/uploads/2021/05/guia-do-autismo-infantil.pdf
HOANG, Ny; CYTRYNBAUM, Cheryl; SCHERER, Stephen W. Communicating complex genomic information: A counselling approach derived from research experience with autism spectrum disorder. Patient Education and Counseling. v. 101, n .2, p. 352-361, 2018. https://doi.org/10.1016/j.pec.2017.07.029 DOI: https://doi.org/10.1016/j.pec.2017.07.029
HUNTJENS, Anne et al. The effect of dialectical behaviour therapy in autism spectrum patients with suicidality and/or self-destructive behaviour (DIAAS): Study protocol for a multicentre randomised controlled. BMC Psychiatry, v. 20, n. 127, 2020. https://doi.org/10.1186/s12888-020-02531-1 DOI: https://doi.org/10.1186/s12888-020-02531-1
JACK, Allison et al. A neurogenetic analysis of female autism. Oxford University Press: Brain, 2021. https://doi.org/10.1093/brain/awab064 DOI: https://doi.org/10.1093/brain/awab064
KANDEL, Eric R et al. Princípios de Neurociências (5th ed.). Porto Alegre: Artmed, 2014.
KELLY, Elyza. Regulation of autism–relevant behaviors by cerebellar-prefrontal cortical circuits. Nature Neuroscience, v. 23, p. 1102-1110, 2020. https://doi.org/10.1038/s41593-020-0665-z DOI: https://doi.org/10.1038/s41593-020-0665-z
KERCHE, Leandra Ernst; CAMPAROTO, Marjori Leiva; RODRIGUES, Felipe Viegas. As alterações genéticas e a neurofisiologia do autismo. Sabios Revista de Saúde e Biologia, v. 15, n. 1, p. 40-56, 2020. Consultado em: https://www.researchgate.net/profile/Leandra-Kerche/publication/341160501_AS_ALTERACOES_GENETICAS_E_A_NEUROFISIOLOGIA_DO_AUTISMO_GENETIC_ALTERATIONS_AND_THE_NEUROPHYSIOLOGY_OF_AUTISM/links/5eb171ab45851592d6b9af0c/AS-ALTERACOES-GENETICAS-E-A-NEUROFISIOLOGIA-DO-AUTISMO-GENETIC-ALTERATIONS-AND-THE-NEUROPHYSIOLOGY-OF-AUTISM.pdf
KISER, Martha D.; PELPHREY, Kevin. A. Disrupted action perception in autism: Behavioral evidence, neuroendophenotypes, and diagnostic utility. Developmental Cognitive Neuroscience, v. 2, n. 1, p. 25-35, 2012. https://doi.org/10.1016/j.dcn.2011.05.005 DOI: https://doi.org/10.1016/j.dcn.2011.05.005
KISHIMOTO, Tizuko Morchida. Brinquedos e brincadeiras na educação infantil. In: Anais do I Seminário Nacional: Currículo em movimento – perspectivas atuais. Belo Horizonte, novembro de 2010. Consultado em: https:// https://moodle.ufsc.br/mod/resource/view.php?id=497687&forceview=1
KLEI, Lambertus et al. How rare and common risk variation jointly affect liability for autism spectrum disorder. Molecular Autism, v. 12, n. 1, p. 66, 2021. https://doi.org/10.1186/s13229-021-00466-2 DOI: https://doi.org/10.1186/s13229-021-00466-2
KNIGHT, Emily J. et al. Attentional influences on neural processing of biological motion in typically developing children and those on the autism spectrum. Molecular Autism, v. 13, n. 1, p. 33, 2022. https://doi.org/10.1186/s13229-022-00512-7 DOI: https://doi.org/10.1186/s13229-022-00512-7
KROL, Alexandra et al. Thalamic reticular dysfunction as a circuit endophenotype in neurodevelopmental disorders. Neuron, v. 98, n. 2, p. 282-295, 2018. https://doi.org/10.1016/j.neuron.2018.03.021 DOI: https://doi.org/10.1016/j.neuron.2018.03.021
KUO, Susan S. et al. Developmental variability in autism across 17000 autistic individual and 4000 siblings without an autism diagnosis: Comparisons by cohort, intellectual disability, genetic etiology, and age at diagnosis. JAMA Pediatrics, v. 176, n. 9, p. 915-923, 2022. https://doi.org/10.1001/jamapediatrics.2022.2423 DOI: https://doi.org/10.1001/jamapediatrics.2022.2423
LIBERALESSO, Paulo; LACERDA, Lucelmo. Autismo: compreensão e práticas baseadas em evidências. Curitiba: capricha na inclusão, 2020 Consultado em: https://mid.curitiba.pr.gov.br/2021/00312283.pdf
LI, Min et al. Atypical structural connectivity of languages networks in autism spectrum disorder: A meta-analysis of diffusion tensor imaging studies. Autism Research, v. 15, n. 9, p. 1585-1602, 2022. https://doi.org/10.1002/aur.2789 DOI: https://doi.org/10.1002/aur.2789
MAENNER, Matthew J. et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, united states, 2020. MMWR Surveillance Summaries, v. 72, n. 2, p. 1-14, 2023. https://dx.doi.org/10.15585/mmwr.ss7202a1 DOI: https://doi.org/10.15585/mmwr.ss7202a1
MATURANA, Humberto R.; VARELA, Francisco J. A árvore do conhecimento: as bases biológicas da compreensão humana (9th ed). São Paulo: Palas Athena Editora, 2011
MEYER-LINDENBERG, Hannah et al. Facial expression recognition is linked to clinical and neurofunctional differences in autism. Molecular Autism v. 13, n. 43, 2022. https://doi.org/10.1186/s13229-022-00520-7 DOI: https://doi.org/10.1186/s13229-022-00520-7
NATIONAL AUTISTIC SOCIETY. Interview with Lorna Wing about autism: Prof. Christopher Gillberg talks to Lorna Wing, founding member of the National Autistic Society, 2 March 2011. 1 vídeo (26:30m). Disponível em: https:// www.youtube.com/watch?v=L_4loBEg9kw&t=2s
OLIVER, Chris; LICENCE, Lucy; RICHARDS, Caroline. Self-injurious behaviour in people with intellectual disability and autism spectrum disorder. Current Opinion in Psychiatry, v. 30, n. 2, p. 97-101, 2017. https://doi.org/10.1097/YOC.0000000000000313 DOI: https://doi.org/10.1097/YCO.0000000000000313
PIVEN, J.; ELISON, J. T.; ZYLKA, M. J. Toward a conceptual framework for early brain and behavior development in autism. Molecular Psychiatry, v. 22, n. 10, p. 1385–1394, 2017. https://doi.org/10.1038/mp.2017.131 DOI: https://doi.org/10.1038/mp.2017.131
PORCELLI, Stefano et al. Social brain, social dysfunction and social withdrawal. Neuroscience Biobehavior, v. 97, p. 10-33, 2018. https://doi.org/10.1016/j.neubiorev.2018.09.012 DOI: https://doi.org/10.1016/j.neubiorev.2018.09.012
POSAR, Annio; VISCONTI, Paola. Sensory abnormalities in children with autism spectrum disorder. Jornal de Pediatria, v. 94, p. 342-350, 2018. https://doi.org/10.1016/j.jped.2017.08.008 DOI: https://doi.org/10.1016/j.jped.2017.08.008
QIU, Shuang et al. Prevalence of autism spectrum disorder in asia: A systematic review and meta-analysis. Psychiatry Research, v. 284, p. 112679, 2020. https://doi.org/10.1016/j.psychres.2019.112679 DOI: https://doi.org/10.1016/j.psychres.2019.112679
RANDELL, Elizabeth et al. Sensory integration therapy versus usual care for sensory processing difficulties in autism spectrum disorder in children: study protocol for a pragmatic randomised controlled trial. Trial, v. 20, n. 1, p. 113, 2019. https://doi.org/10.1186/s13063-019-3205-y DOI: https://doi.org/10.1186/s13063-019-3205-y
REED, Phil et al. Impact of diagnostic practices on the self-reported health of mothers of recently diagnosed children with ASD. Environmental Research and Public Health, v. 13, n. 9, p. 888, 2016. https://doi.org/10.3390/ijerph13090888 DOI: https://doi.org/10.3390/ijerph13090888
ROGERS, Sally J.; DAWSON Geraldine. Intervenção precoce em crianças com autismo: Modelo denver para a promoção da linguagem, da aprendizagem e da socialização. Lisboa: LIDEL, 2014.
ROMBERT, Joana. A linguagem mágica dos bebés. Lisboa: A Esfera dos Livros, 2017.
SEYMOUR, R. A. et al. Dysregulated oscillatory connectivity in the visual system in autism spectrum disorder. Oxford Academic: Brain, v. 142, n. 10, p. 3294-3305, 2019. https://doi.org/10.1093/brain/awz214 DOI: https://doi.org/10.1093/brain/awz214
SILVA, Ana Beatriz Barbosa; GAIATO, Mayra. Bonifácio; REVELES, Leandro Tadeu. Mundo singular: entenda o autismo. [Adobe Digital Editions version], 2012. Consultado em: https://institutosingular.org/wp-content/uploads/2021/05/Mundo-Singular-Ana-Beatriz-Barbosa-Silva.pdf
SCHMIDT, Carlo et al . Inclusão escolar e autismo: uma análise da percepção docente e práticas pedagógicas. Psicol. teor. prat., São Paulo, v. 18, n. 1, p. 222-235, abr. 2016. Disponível em: http://pepsic.bvsalud.org/scielo.php?script=sci_arttext&pid=S1516-36872016000100017&lng=pt&nrm=iso DOI: https://doi.org/10.15348/1980-6906/psicologia.v18n1p222-235
SOARES, Sandra C. et al. Fast detector/first responder: interactions between the superior colliculus pulvinar pathway and stimuli relevant to primates. Frontiers in Neuroscience, Volume 11, 2017. https://doi.org/10.3389/fnins.2017.00067 DOI: https://doi.org/10.3389/fnins.2017.00067
TODOROVA, Greta Krasimirova; HATTON, Rosalind Elizabeth McBean; POLLICK, Frank Earl. Biological motion perception in autism spectrum disorder: A meta-analysis. Molecular Autism, v. 18, n. 10, p. 49, 2019. https://doi.org/10.1186/s13229-019-0299-8 DOI: https://doi.org/10.1186/s13229-019-0299-8
XIAO, Yaqiong. Atypical functional connectivity of temporal cortex with precuneus and visual regions maybe an early-age signature of ADS. Molecular Autism, v. 14, n. 1, p. 111, 2023. https://doi.org/10.1186/s13229-023-00543-8 DOI: https://doi.org/10.1186/s13229-023-00543-8
YANKOWITZ, L. D. Infants later diagnosed with autism have lower canonical babling rations in the first year of life. Autism Molecular, v. 13, n. 1, p. 28, 2022. https://doi.org/10.1186/s13229-022-00503-8 DOI: https://doi.org/10.1186/s13229-022-00503-8
ZHOU, Wensu et al. Emotional problems in mothers of autistic children and their correlation with socioeconomic status and the children´s core symptoms. Medicine (Baltimore), v. 98, n. 32, p. e16794, 2019. https://doi.org/10.1097/MD0000000000016794 DOI: https://doi.org/10.1097/MD.0000000000016794
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