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Ciolino et al. J Transl Genet Genom 2022;6:429-42 Journal of Translational
DOI: 10.20517/jtgg.2022.15
Genetics and Genomics

Perspective Review Open Access

The importance of genetics in an advanced
integrative model of autism spectrum disorder

1,3
1,2
Andrés Ciolino , María Luján Ferreira , Nicolás Loyacono 4
1
Planta Piloto de Ingeniería Química (PLAPIQUI-UNS-CONICET), Bahía Blanca 8000, Argentina.
2
Departamento de Ingeniería Química, Universidad Nacional del Sur (UNS), Bahía Blanca 8000, Argentina.
3
Departamento de Química, Universidad Nacional del Sur (UNS), Bahía Blanca 8000, Argentina.
4
SANyTA (Sociedad Argentina de Neurodesarrollo y Trastornos Asociados, CABA C1426BUE, Argentina.
Correspondence to: Dr. Nicolas Loyacono, SANyTA (Sociedad Argentina de Neurodesarrollo y Trastornos Asociados),
Migueletes 681 Piso 2, Departamento 2, CABA C1426BUE, Argentina. E-mail: nicoloya@hotmail.com
How to cite this article: Ciolino A, Ferreira ML, Loyacono N. The importance of genetics in an advanced integrative model of
autism spectrum disorder. J Transl Genet Genom 2022;6:429-42. https://dx.doi.org/10.20517/jtgg.2022.15

Received: 1 Aug 2022 First Decision: 5 Oct 2022 Revised: 24 Oct 2022 Accepted: 10 Dec 2022 Published: 29 Dec 2022

Academic Editors: Sanjay Gupta, Shu-Feng Lei Copy Editor: Ke-Cui Yang Production Editor: Ke-Cui Yang

Abstract
Genes have long been considered to cause autism spectrum disorder (ASD). However, data obtained over the last
10 years indicate that the true role of genetics in ASD and the cost-benefit ratio of genetic testing following an ASD
diagnosis warrant further investigation. ASD is heterogeneous with high individual complexity, and new findings
related to systemic alterations in ASD (in addition to genetics) should be considered when attempting to optimize
patient health. However, for some people with ASD and their families, genetic testing can identify genetic
mutations or chromosomic alterations. This review mainly considers recent research (the last 5 years) on the role
of genetic factors in ASD and the importance of genetic testing in a new Advanced Integrative Model of ASD.

Keywords: Genetic testing, Advanced Integrative Model, mutation

INTRODUCTION
Studies spanning the past 50 years have indicated the heterogeneous nature of autism spectrum disorder
[1]
(ASD), not only in terms of clinical presentation but also the underlying etiology . Although increasing
numbers of studies with large sample sizes have enabled researchers to identify common genetic factors
associated with autism, the genetic predisposition for ASD may be different in each individual . As
[2]

© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0
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