Towards a future molecular diagnosis of autism: Recent advances in biomarkers research from saliva samples

Galiana-Simal, Adrián; Muñoz-Martínez, Victoria Eugenia; Calero-Bueno, Paloma; Vela-Romero, Maria; Beato-Fernández, Luís

doi:10.1016/j.ijdevneu.2018.03.004

Cited by 10 publications

(7 citation statements)

References 44 publications

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“…Using blood or amniotic fluid is still considered the gold standard in research and clinical diagnostics. In general, saliva is used for the monitoring of oral and systemic diseases, whereas in the field of other various disorders, saliva is secondary to the other mentioned body fluids or tissues [ 18 , 44 ].…”

Section: Saliva In Asd Researchmentioning

confidence: 99%

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Potential of Salivary Biomarkers in Autism Research: A Systematic Review

Janšáková

Kyselicová

Ostatníková

et al. 2021

IJMS

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The diagnostic process for autism spectrum disorders (ASD) is based on a behavioral analysis of the suspected individual. Despite intensive research, no specific and valid biomarker has been identified for ASD, but saliva, with its advantages such as non-invasive collection, could serve as a suitable alternative to other body fluids. As a source of nucleic acid of both human and microbial origin, protein and non-protein molecules, saliva offers a complex view on the current state of the organism. Additionally, the use of salivary markers seems to be less complicated not only for ASD screening but also for revealing the etiopathogenesis of ASD, since enrolling neurotypical counterparts willing to participate in studies may be more feasible. The aim of the presented review is to provide an overview of the current research performed on saliva in relation to ASD, mutual complementing, and discrepancies that result in difficulties applying the observed markers in clinical practice. We emphasize the methodological limitations of saliva collection and processing as well as the lack of information regarding ASD diagnosis, which is critically discussed.

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Section: Saliva In Asd Researchmentioning

confidence: 99%

“…Since the specific etiology of ASD remains dominantly unknown, discovering a tangible biomarker is challenging. The global scientific community is looking for these markers predominantly in blood, amniotic fluid, or alternatively in saliva [ 16 , 17 , 18 ]. Saliva presents an underrated body fluid with many advantages and abilities.…”

Section: Introductionmentioning

confidence: 99%

Potential of Salivary Biomarkers in Autism Research: A Systematic Review

Janšáková

Kyselicová

Ostatníková

et al. 2021

IJMS

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“…The development of increasingly effective approaches to the computer analysis of non-invasively recorded characteristics of patients with ASD has made it possible to demonstrate the diagnostic potential of other bioelectrical parameters, such as the electrocardiogram [35] and heart rate variability [36], a magnetoencephalogram [37], electromyogram [38] and others. Given the difficulties of contact with ASD patients, innovative diagnostic methods based on biochemical analysis of saliva seem to be promising [39][40][41].…”

Section: High Technology In the Diagnosis Of Autism Spectrum Disordersmentioning

confidence: 99%

Modern Technologies in Studying the Mechanisms, Diagnostics, and Treatment of Autism Spectrum Disorders (Review)

Федотчев¹,

Dvoryaninova²,

Velikova³

et al. 2019

Sovrem Tehnol Med

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Autism spectrum disorders (ASD) are among the most common and intractable neurological diseases characterized by high heterogeneity and requiring a person-oriented approach to diagnostics and treatment. The purpose of this review is to summarize the literature data of the last 5 years on the contribution of modern technologies to the knowledge of mechanisms, diagnostics, and treatment of ASD. Particular attention is paid to the possibilities of non-drug treatment of ASD with the help of neurointerface technologies, including the brain-computer interface and neurofeedback technologies. The advantages of the musical neurointerface elaborated by the authors with complex feedback from brain and heart biopotentials, providing the possibility of personalized treatment of ASD, are grounded.

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“…Com a comprovação de sua grande heterogeneidade genética, compreendeu-se que seu entendimento clínico demanda uma fundamentação genética (6,7). Nesse cenário, em 2013, o Colégio Americano de Genética Médica e Genômica (ACMG), estabeleceu diretrizes que direcionaram testes moleculares para o suporte diagnóstico do TEA, apresentando eficácia em 15 a 20% dos casos.…”

Section: Introductionunclassified

Transtorno do espectro autista (TEA): da classificação genética ao diagnóstico molecular

Fontes

Souza

2022

SaBios

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O Transtorno do Espectro Autista (TEA), é caracterizado por déficits sociocomunicativos persistentes em conjunto com padrões comportamentais repetitivos e restritos. Com o progresso da biologia molecular e genética, sobrevém importantes ferramentas que contribuem para o seu conhecimento genético e diagnóstico. Dessa forma, esta revisão objetiva abordar a classificação genética do TEA e revisar os avanços diagnósticos do distúrbio a partir de técnicas da biologia molecular. Para isso, foi realizada uma revisão bibliográfica, utilizando bancos de dados como National Library of Medicine (PUBMED), Scientific Electronic Library Online (SCIELO), preconizando artigos de 2013 a 2020. Com base nos resultados alcançados visualiza-se que a classificação genética do TEA em formas sindrômicas e não sindrômicas, surgiu da necessidade de olhar a condição sobre a ótica das causas genéticas envolvidas. Quanto aos avanços diagnósticos, técnicas como Análise Cromossômica por Microarray, cariótipo, pesquisa para X frágil e sequenciamento dos genes MECP2 e PTEN, são visualizadas como ferramentas complementares ao diagnóstico clínico do TEA. Por fim, conclui-se que a classificação genética do TEA ressalta a importância de considerar as questões genéticas para o aperfeiçoamento do conhecimento do transtorno, dado que a maioria das diretrizes diagnósticas atuais se fundamentam exclusivamente na clínica do paciente, excluindo aspectos genéticos já comprovadamente relacionados ao distúrbio. Considerando o diagnóstico molecular do TEA observa-se que entre seus avanços e perspectivas, técnicas da biologia molecular podem contribuir para identificação etiológica do caso, tornando o aconselhamento genético e diagnóstico clínico mais eficientes.

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Towards a future molecular diagnosis of autism: Recent advances in biomarkers research from saliva samples

Cited by 10 publications

References 44 publications

Potential of Salivary Biomarkers in Autism Research: A Systematic Review

Potential of Salivary Biomarkers in Autism Research: A Systematic Review

Modern Technologies in Studying the Mechanisms, Diagnostics, and Treatment of Autism Spectrum Disorders (Review)

Transtorno do espectro autista (TEA): da classificação genética ao diagnóstico molecular

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