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Neuropsychopathology of Autism Spectrum Disorder: Complex Interplay of Genetic, Epigenetic, and Environmental Factors

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Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management

Part of the book series: Advances in Neurobiology ((NEUROBIOL,volume 24))

Abstract

Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive development disorders (PDD) which ranges from atypical autism, autism, and Asperger syndrome affecting brain in the developmental stage. This debilitating neurodevelopmental disorder results in both core as well as associated symptoms. Core symptoms observed in autistic patients are lack of social interaction, pervasive, stereotyped, and restricted behavior while the associated symptoms include irritability, anxiety, aggression, and several comorbid disorders.

ASD is a polygenic disorder and is multifactorial in origin. Copy number variations (CNVs) of several genes that regulate the synaptogenesis and signaling pathways are one of the major factors responsible for the pathogenesis of autism. The complex integration of various CNVs cause mutations in the genes which code for molecules involved in cell adhesion, voltage-gated ion-channels, scaffolding proteins as well as signaling pathways (PTEN and mTOR pathways). These mutated genes are responsible for affecting synaptic transmission by causing plasticity dysfunction responsible, in turn, for the expression of ASD.

Epigenetic modifications affecting DNA transcription and various pre-natal and post-natal exposure to a variety of environmental factors are also precipitating factors for the occurrence of ASD. All of these together cause dysregulation of glutamatergic signaling as well as imbalance in excitatory: inhibitory pathways resulting in glial cell activation and release of inflammatory mediators responsible for the aberrant social behavior which is observed in autistic patients.

In this chapter we review and provide insight into the intricate integration of various genetic, epigenetic, and environmental factors which play a major role in the pathogenesis of this disorder and the mechanistic approach behind this integration.

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Acknowledgements

Research grants sanctioned by SERB, Department of Science & Technology (grant no SB/FT/LS-284/2012), All India Council of Technical Education (11-25/RIFD/CAYT/POL-II/2013-14) and University Grants Commission (20-29(12)/2012(BSR), New Delhi to Dr Anurag Kuhad are gratefully acknowledged. Senior Research Fellowship sanctioned by Indian Council of Medical Research, New Delhi to Ms. Ranjana Bhandari is also gratefully acknowledged.

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The authors declare no conflicts of interest.

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Authors and Affiliations

  1. Pharmacology Research Laboratory, University Institute of Pharmaceutical Sciences, UGC-Centre of Advanced Study, Panjab University, Chandigarh, India

    Ranjana Bhandari, Jyoti K. Paliwal & Anurag Kuhad

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  1. Ranjana Bhandari
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  2. Jyoti K. Paliwal
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  3. Anurag Kuhad
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  1. Food Science and Nutrition, CAMS, Sultan Qaboos University, Muscat, Oman

    M. Mohamed Essa

  2. World Innovation Summit for Health WISH, Qatar Foundation, Doha, Qatar

    M. Walid Qoronfleh

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Bhandari, R., Paliwal, J.K., Kuhad, A. (2020). Neuropsychopathology of Autism Spectrum Disorder: Complex Interplay of Genetic, Epigenetic, and Environmental Factors. In: Essa, M., Qoronfleh, M. (eds) Personalized Food Intervention and Therapy for Autism Spectrum Disorder Management. Advances in Neurobiology, vol 24. Springer, Cham. https://doi.org/10.1007/978-3-030-30402-7_4

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