Effect of Genetics on Autism Spectrum Disorders: A Review Study

Raneem Nabil Halaweh

doi:doi:10.11648/j.cnn.20240804.11

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Effect of Genetics on Autism Spectrum Disorders: A Review Study

Raneem Nabil Halaweh^*

Published in Clinical Neurology and Neuroscience (Volume 8, Issue 4)

Received: 18 October 2024 Accepted: 4 November 2024 Published: 26 November 2024

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Abstract

Autism Spectrum Disorders (ASD) are intricate neurodevelopmental conditions marked by challenges in social interaction, communication, and repetitive behaviors. The etiology of ASD is multifaceted, involving genetic mutations, perinatal, nutritional and environmental factors. This review explores the various genetic mutations implicated in the development of ASD for the purpose of examining the diverse genetic factors contributing to the pathogenesis of ASD such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes. A comprehensive review of literature was conducted to gather information on genetic influences related to ASD. Studies investigating the complex interplay of those factors were analyzed to elucidate how they contribute to the development of ASD. Results found that genetic mutations in genes like Shank3 and SCGN have been identified as playing a role in the pathogenesis of ASD through their impact on glutamic excitatory pathways and oxytocin signaling. ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes have also been linked to an increased risk of ASD and associated cognitive and neurological impairments. In conclusion, research on different genetic mutations and deletions affecting autism spectrum disorder (ASD) highlights the complexity of the disease. Key genes such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, and KMT2C are implicated, each contributing uniquely to ASD. Genetic variations, mutations, and heritability play significant roles, with factors like zinc deficiency and advanced paternal age also linked to increased ASD risk. While genomic technology has identified specific markers and pathways, the effect of multiple genetic mutations on symptom severity remains unclear. Understanding these genetic factors is crucial for improving diagnostic precision and developing targeted therapies, necessitating continued interdisciplinary research.

Published in	Clinical Neurology and Neuroscience (Volume 8, Issue 4)
DOI	10.11648/j.cnn.20240804.11
Page(s)	47-53
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

ASD, SHANK3, SGGN, ADNP, ARID1B, CHD8, DYRK1A, KMT2C

References

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Halaweh, R. N. (2024). Effect of Genetics on Autism Spectrum Disorders: A Review Study. Clinical Neurology and Neuroscience, 8(4), 47-53. https://doi.org/10.11648/j.cnn.20240804.11

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Halaweh, R. N. Effect of Genetics on Autism Spectrum Disorders: A Review Study. Clin. Neurol. Neurosci. 2024, 8(4), 47-53. doi: 10.11648/j.cnn.20240804.11

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Halaweh RN. Effect of Genetics on Autism Spectrum Disorders: A Review Study. Clin Neurol Neurosci. 2024;8(4):47-53. doi: 10.11648/j.cnn.20240804.11

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@article{10.11648/j.cnn.20240804.11,
  author = {Raneem Nabil Halaweh},
  title = {Effect of Genetics on Autism Spectrum Disorders: A Review Study
},
  journal = {Clinical Neurology and Neuroscience},
  volume = {8},
  number = {4},
  pages = {47-53},
  doi = {10.11648/j.cnn.20240804.11},
  url = {https://doi.org/10.11648/j.cnn.20240804.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cnn.20240804.11},
  abstract = {Autism Spectrum Disorders (ASD) are intricate neurodevelopmental conditions marked by challenges in social interaction, communication, and repetitive behaviors. The etiology of ASD is multifaceted, involving genetic mutations, perinatal, nutritional and environmental factors. This review explores the various genetic mutations implicated in the development of ASD for the purpose of examining the diverse genetic factors contributing to the pathogenesis of ASD such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes. A comprehensive review of literature was conducted to gather information on genetic influences related to ASD. Studies investigating the complex interplay of those factors were analyzed to elucidate how they contribute to the development of ASD. Results found that genetic mutations in genes like Shank3 and SCGN have been identified as playing a role in the pathogenesis of ASD through their impact on glutamic excitatory pathways and oxytocin signaling. ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes have also been linked to an increased risk of ASD and associated cognitive and neurological impairments. In conclusion, research on different genetic mutations and deletions affecting autism spectrum disorder (ASD) highlights the complexity of the disease. Key genes such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, and KMT2C are implicated, each contributing uniquely to ASD. Genetic variations, mutations, and heritability play significant roles, with factors like zinc deficiency and advanced paternal age also linked to increased ASD risk. While genomic technology has identified specific markers and pathways, the effect of multiple genetic mutations on symptom severity remains unclear. Understanding these genetic factors is crucial for improving diagnostic precision and developing targeted therapies, necessitating continued interdisciplinary research.
},
 year = {2024}
}

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TY  - JOUR
T1  - Effect of Genetics on Autism Spectrum Disorders: A Review Study

AU  - Raneem Nabil Halaweh
Y1  - 2024/11/26
PY  - 2024
N1  - https://doi.org/10.11648/j.cnn.20240804.11
DO  - 10.11648/j.cnn.20240804.11
T2  - Clinical Neurology and Neuroscience
JF  - Clinical Neurology and Neuroscience
JO  - Clinical Neurology and Neuroscience
SP  - 47
EP  - 53
PB  - Science Publishing Group
SN  - 2578-8930
UR  - https://doi.org/10.11648/j.cnn.20240804.11
AB  - Autism Spectrum Disorders (ASD) are intricate neurodevelopmental conditions marked by challenges in social interaction, communication, and repetitive behaviors. The etiology of ASD is multifaceted, involving genetic mutations, perinatal, nutritional and environmental factors. This review explores the various genetic mutations implicated in the development of ASD for the purpose of examining the diverse genetic factors contributing to the pathogenesis of ASD such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes. A comprehensive review of literature was conducted to gather information on genetic influences related to ASD. Studies investigating the complex interplay of those factors were analyzed to elucidate how they contribute to the development of ASD. Results found that genetic mutations in genes like Shank3 and SCGN have been identified as playing a role in the pathogenesis of ASD through their impact on glutamic excitatory pathways and oxytocin signaling. ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes have also been linked to an increased risk of ASD and associated cognitive and neurological impairments. In conclusion, research on different genetic mutations and deletions affecting autism spectrum disorder (ASD) highlights the complexity of the disease. Key genes such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, and KMT2C are implicated, each contributing uniquely to ASD. Genetic variations, mutations, and heritability play significant roles, with factors like zinc deficiency and advanced paternal age also linked to increased ASD risk. While genomic technology has identified specific markers and pathways, the effect of multiple genetic mutations on symptom severity remains unclear. Understanding these genetic factors is crucial for improving diagnostic precision and developing targeted therapies, necessitating continued interdisciplinary research.

VL  - 8
IS  - 4
ER  -

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Raneem Nabil Halaweh

Royal College of Surgeons in Ireland, Medical University of Bahrain, Bahrain, Ireland

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http://orcid.org/0009-0000-7380-8607

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Halaweh, R. N. (2024). Effect of Genetics on Autism Spectrum Disorders: A Review Study. Clinical Neurology and Neuroscience, 8(4), 47-53. https://doi.org/10.11648/j.cnn.20240804.11

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ACS Style

Halaweh, R. N. Effect of Genetics on Autism Spectrum Disorders: A Review Study. Clin. Neurol. Neurosci. 2024, 8(4), 47-53. doi: 10.11648/j.cnn.20240804.11

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AMA Style

Halaweh RN. Effect of Genetics on Autism Spectrum Disorders: A Review Study. Clin Neurol Neurosci. 2024;8(4):47-53. doi: 10.11648/j.cnn.20240804.11

Copy | Download

@article{10.11648/j.cnn.20240804.11,
  author = {Raneem Nabil Halaweh},
  title = {Effect of Genetics on Autism Spectrum Disorders: A Review Study
},
  journal = {Clinical Neurology and Neuroscience},
  volume = {8},
  number = {4},
  pages = {47-53},
  doi = {10.11648/j.cnn.20240804.11},
  url = {https://doi.org/10.11648/j.cnn.20240804.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cnn.20240804.11},
  abstract = {Autism Spectrum Disorders (ASD) are intricate neurodevelopmental conditions marked by challenges in social interaction, communication, and repetitive behaviors. The etiology of ASD is multifaceted, involving genetic mutations, perinatal, nutritional and environmental factors. This review explores the various genetic mutations implicated in the development of ASD for the purpose of examining the diverse genetic factors contributing to the pathogenesis of ASD such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes. A comprehensive review of literature was conducted to gather information on genetic influences related to ASD. Studies investigating the complex interplay of those factors were analyzed to elucidate how they contribute to the development of ASD. Results found that genetic mutations in genes like Shank3 and SCGN have been identified as playing a role in the pathogenesis of ASD through their impact on glutamic excitatory pathways and oxytocin signaling. ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes have also been linked to an increased risk of ASD and associated cognitive and neurological impairments. In conclusion, research on different genetic mutations and deletions affecting autism spectrum disorder (ASD) highlights the complexity of the disease. Key genes such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, and KMT2C are implicated, each contributing uniquely to ASD. Genetic variations, mutations, and heritability play significant roles, with factors like zinc deficiency and advanced paternal age also linked to increased ASD risk. While genomic technology has identified specific markers and pathways, the effect of multiple genetic mutations on symptom severity remains unclear. Understanding these genetic factors is crucial for improving diagnostic precision and developing targeted therapies, necessitating continued interdisciplinary research.
},
 year = {2024}
}

Copy | Download

TY  - JOUR
T1  - Effect of Genetics on Autism Spectrum Disorders: A Review Study

AU  - Raneem Nabil Halaweh
Y1  - 2024/11/26
PY  - 2024
N1  - https://doi.org/10.11648/j.cnn.20240804.11
DO  - 10.11648/j.cnn.20240804.11
T2  - Clinical Neurology and Neuroscience
JF  - Clinical Neurology and Neuroscience
JO  - Clinical Neurology and Neuroscience
SP  - 47
EP  - 53
PB  - Science Publishing Group
SN  - 2578-8930
UR  - https://doi.org/10.11648/j.cnn.20240804.11
AB  - Autism Spectrum Disorders (ASD) are intricate neurodevelopmental conditions marked by challenges in social interaction, communication, and repetitive behaviors. The etiology of ASD is multifaceted, involving genetic mutations, perinatal, nutritional and environmental factors. This review explores the various genetic mutations implicated in the development of ASD for the purpose of examining the diverse genetic factors contributing to the pathogenesis of ASD such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes. A comprehensive review of literature was conducted to gather information on genetic influences related to ASD. Studies investigating the complex interplay of those factors were analyzed to elucidate how they contribute to the development of ASD. Results found that genetic mutations in genes like Shank3 and SCGN have been identified as playing a role in the pathogenesis of ASD through their impact on glutamic excitatory pathways and oxytocin signaling. ADNP, ARID1B, CHD8, DYRK1A, KMT2C, OT, AVP and zinc transporter genes have also been linked to an increased risk of ASD and associated cognitive and neurological impairments. In conclusion, research on different genetic mutations and deletions affecting autism spectrum disorder (ASD) highlights the complexity of the disease. Key genes such as SHANK3, SCGN, ADNP, ARID1B, CHD8, DYRK1A, and KMT2C are implicated, each contributing uniquely to ASD. Genetic variations, mutations, and heritability play significant roles, with factors like zinc deficiency and advanced paternal age also linked to increased ASD risk. While genomic technology has identified specific markers and pathways, the effect of multiple genetic mutations on symptom severity remains unclear. Understanding these genetic factors is crucial for improving diagnostic precision and developing targeted therapies, necessitating continued interdisciplinary research.

VL  - 8
IS  - 4
ER  -

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