Mapping the Structure of Biomarkers in Autism Spectrum Disorder: a Review of the Most Influential Studies

Overview

Journal Front Neurosci

Date 2024 Dec 30

PMID 39734494

Authors

Fang Jin

Zhidan Wang

Affiliations

Soon will be listed here.

Abstract

Background: Autism spectrum disorder is a distinctive developmental condition which is caused by an interaction between genetic vulnerability and environmental factors. Biomarkers play a crucial role in understanding disease characteristics for diagnosis, prognosis, and treatment. This study employs bibliometric analysis to identify and review the 100 top-cited articles' characteristics, current research hotspots and future directions of autism biomarkers.

Methods: A comprehensive search of autism biomarkers studies was retrieved from the Web of Science Core Collection database with a combined keyword search strategy. A comprehensive analysis of the top 100 articles was conducted with CiteSpace, VOSviewer, and Excel, including citations, countries, authors, and keywords.

Results: The top 100 cited studies were published between 1988 and 2021, with the United States led in productivity. Core biomarkers such as genetics, children, oxidative stress, and mitochondrial dysfunction are well-established. Potential trends for future research may include brain studies, metabolomics, and associations with other psychiatric disorders.

Conclusion: This pioneering bibliometric analysis provides a comprehensive compilation of the 100 most-cited studies on autism, which not only offers a valuable resource for doctors, and researchers but shedding insights into current shortcomings and future endeavors. Future research should prioritize the application of emerging technologies for biomarkers, longitudinal study of biomarkers, and specificity of autism biomarkers to advance the precision of ASD diagnosis and treatment.

References

Kim Y, Fombonne E, Koh Y, Kim S, Cheon K, Leventhal B . A comparison of DSM-IV pervasive developmental disorder and DSM-5 autism spectrum disorder prevalence in an epidemiologic sample. J Am Acad Child Adolesc Psychiatry. 2014; 53(5):500-8. PMC: 4058782. DOI: 10.1016/j.jaac.2013.12.021. View

Ying Cai R, Richdale A, Dissanayake C, Uljarevic M . Resting heart rate variability, emotion regulation, psychological wellbeing and autism symptomatology in adults with and without autism. Int J Psychophysiol. 2018; 137:54-62. DOI: 10.1016/j.ijpsycho.2018.12.010. View

Tang G, Gudsnuk K, Kuo S, Cotrina M, Rosoklija G, Sosunov A . Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Neuron. 2014; 83(5):1131-43. PMC: 4159743. DOI: 10.1016/j.neuron.2014.07.040. View

Brito A, Vasconcelos M, Domingues R, Hygino da Cruz Jr L, Rodrigues L, Gasparetto E . Diffusion tensor imaging findings in school-aged autistic children. J Neuroimaging. 2009; 19(4):337-43. DOI: 10.1111/j.1552-6569.2009.00366.x. View

Buxbaum J, Silverman J, Smith C, Greenberg D, Kilifarski M, Reichert J . Association between a GABRB3 polymorphism and autism. Mol Psychiatry. 2002; 7(3):311-6. DOI: 10.1038/sj.mp.4001011. View

Tager-Flusberg H . A psychological approach to understanding the social and language impairments in autism. Int Rev Psychiatry. 2006; 11(4):325-34. PMC: 1350917. DOI: 10.1080/09540269974203. View

Gaugler T, Klei L, Sanders S, Bodea C, Goldberg A, Lee A . Most genetic risk for autism resides with common variation. Nat Genet. 2014; 46(8):881-5. PMC: 4137411. DOI: 10.1038/ng.3039. View

Haar S, Berman S, Behrmann M, Dinstein I . Anatomical Abnormalities in Autism?. Cereb Cortex. 2014; 26(4):1440-52. DOI: 10.1093/cercor/bhu242. View

Zhang S, Wang S, Liu R, Dong H, Zhang X, Tai X . A bibliometric analysis of research trends of artificial intelligence in the treatment of autistic spectrum disorders. Front Psychiatry. 2022; 13:967074. PMC: 9464861. DOI: 10.3389/fpsyt.2022.967074. View

10.

Pizzarelli R, Cherubini E . Alterations of GABAergic signaling in autism spectrum disorders. Neural Plast. 2011; 2011:297153. PMC: 3134996. DOI: 10.1155/2011/297153. View

11.

Frye R, Vassall S, Kaur G, Lewis C, Karim M, Rossignol D . Emerging biomarkers in autism spectrum disorder: a systematic review. Ann Transl Med. 2020; 7(23):792. PMC: 6989979. DOI: 10.21037/atm.2019.11.53. View

12.

Ozonoff S, Young G, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L . Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics. 2011; 128(3):e488-95. PMC: 3164092. DOI: 10.1542/peds.2010-2825. View

13.

Vasa R, Mazurek M . An update on anxiety in youth with autism spectrum disorders. Curr Opin Psychiatry. 2015; 28(2):83-90. PMC: 5764108. DOI: 10.1097/YCO.0000000000000133. View

14.

Loth E, Murphy D, Spooren W . Defining Precision Medicine Approaches to Autism Spectrum Disorders: Concepts and Challenges. Front Psychiatry. 2016; 7:188. PMC: 5126086. DOI: 10.3389/fpsyt.2016.00188. View

15.

Glessner J, Wang K, Cai G, Korvatska O, Kim C, Wood S . Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009; 459(7246):569-73. PMC: 2925224. DOI: 10.1038/nature07953. View

16.

. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium. Hum Mol Genet. 1998; 7(3):571-8. DOI: 10.1093/hmg/7.3.571. View

17.

Khodatars M, Shoeibi A, Sadeghi D, Ghaasemi N, Jafari M, Moridian P . Deep learning for neuroimaging-based diagnosis and rehabilitation of Autism Spectrum Disorder: A review. Comput Biol Med. 2021; 139:104949. DOI: 10.1016/j.compbiomed.2021.104949. View

18.

Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E . Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet. 1999; 8(5):805-12. DOI: 10.1093/hmg/8.5.805. View

19.

Castellanos F, Proal E . Large-scale brain systems in ADHD: beyond the prefrontal-striatal model. Trends Cogn Sci. 2011; 16(1):17-26. PMC: 3272832. DOI: 10.1016/j.tics.2011.11.007. View

20.

Lord C, Risi S, Lambrecht L, Cook Jr E, Leventhal B, DiLavore P . The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000; 30(3):205-23. View