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Doctoral Thesis
DOI
https://doi.org/10.11606/T.10.2020.tde-27082020-174347
Document
Author
Full name
Anita Jovelina Brito de Jesus
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2020
Supervisor
Committee
Braga, Patricia Cristina Baleeiro Beltrao (President)
Durigon, Danielle Bruna Leal de Oliveira
Fachel, Ângela Aguirres
Liberalesso, Paulo Breno Noronha
Russo, Fabiele Baldino
Title in Portuguese
Avaliação de componentes de risco para o Transtorno do Espectro do Autismo em participantes do Projeto a Fada do Dente
Keywords in Portuguese
Autismo
Projeto a Fada do Dente
Risco ambiental
Risco genético
TEA
Abstract in Portuguese
Os Transtornos do Espectro do Autismo (TEA) são quadros complexos do neurodesenvolvimento, cujos sintomas incluem déficits na interação e comunicação social associados a comportamentos restritos e repetitivos. Sabe-se que as causas do TEA são multifatoriais, envolvendo genética e ambiente. Neste trabalho, nosso objetivo foi levantar dados sobre fatores genéticos e ambientais em indivíduos brasileiros com TEA, a partir de uma anamnese on-line que captou dados de famílias de todo o território nacional. A ocorrência de fatores genéticos foi testada com base no histórico familiar. Já para os fatores ambientais, foram consideradas exposição a fatores de risco durante a gestação. O grupo investigado contou com 2141 pessoas com TEA e 408 indivíduos para o grupo controle. Os respondentes foram captados em palestras dadas em todo o território nacional, e pelas redes sociais do “Projeto a Fada do Dente”. Nossas análises revelaram que é possível separar componentes de vulnerabilidade genética e exposição ambiental na população estudada, entretanto, não é possível separar grupos de pacientes que correspondam a um ou a outro componente, mas sim um continuum com diferentes composições dos componentes genéticos e ambientais. Além disso, alguns fatores ambientais considerados como de associação para o TEA, como parto cesárea, fumo e idade dos pais não se mostraram relevantes nesta população estudada.
Title in English
Assessment of risk components for Autism Spectrum Disorder in participants of the Tooth Fairy Project
Keywords in English
ASD
Autism
Environmental risk
Genetic risk
Tooth Fairy Project
Abstract in English
Autism spectrum disorders (ASD) are complex neurodevelopmental disorders that include deficits in interaction and social communication associated with restricted and repetitive behaviors. It is known that the causes of ASD are multifactorial, involving genetics and the environment. Our objective here was to collect data on genetic and environmental factors in Brazilian individuals with ASD, based on an online anamnesis that captured data from families across the country. The occurrence of genetic factors was tested based on family history. As for environmental factors, we considered exposure to risk factors during pregnancy. There were 2141 people with ASD in the investigated group, and 408 individuals in the control group. Respondents were captured in lectures given throughout Brazil, and by the social networks of “Projeto a Fada do Dente”. Our analyzes revealed that it is possible to separate components of genetic vulnerability and environmental exposure in the population studied. However, it is not possible to separate groups of patients that correspond to only one or the other component, but rather a continuum with different compositions of the genetic and environmental components. In addition, some environmental factors considered to be associated with ASD, such as cesarean delivery, smoking during gestation and parents' age were not relevant in this population studied.
 
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Publishing Date
2020-10-09
 
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