Preprint / Version 1

Autism From A Neurobiological Perspective

A Disorder, Not A Disease

##article.authors##

  • Hasmitha Kanugula Student
  • Tiffany Chen Mentor

DOI:

https://doi.org/10.58445/rars.1521

Keywords:

Neuroscience, Autism Spectrum Disorder, Therapies, ASD Diagnosis, Neurobiology

Abstract

This paper focuses on eradicating stigmas related to Autism Spectrum Disorder (ASD), particularly addressing the misconception that ASD is a disease requiring a cure rather than a neurodevelopmental disorder with various behaviors and symptoms that can be managed through specific and personalized interventions. The current societal approach often frames autism as a condition to be "fixed," that fails to acknowledge the spectrum's complexity. This paper seeks to challenge these views by delving into the neurobiological factors of ASD, including genetics, neuroanatomy, and brain function. Through a comprehensive analysis of these factors, the goal is to promote a more nuanced understanding of ASD that respects the individuality of those on the spectrum. By shifting the focus from "curing" autism to understanding its variability, this paper aims to propose more ethical, effective, and representative treatment approaches, fostering greater acceptance and inclusion within society.

References

Abdulamir, H. A., Abdul-Rasheed, O. F., & Abdulghani, E. A. (2018). Serotonin and serotonin Transporter levels in autistic children. Saudi Medical Journal, 39(5), 487–494. https://doi.org/10.15537/smj.2018.5.21751

Apte, M., & Kumar, A. (2023). Correlation of mutated gene and signaling pathways in ASD. IBRO neuroscience reports, 14, 384–392. https://doi.org/10.1016/j.ibneur.2023.03.011

Almalki N. S. (2022). Using the Model, Lead, and Test Technique and "GoTalk NOW" App to Teach Children With Intellectual and Developmental Delays to Correctly Request. Frontiers in psychology, 12, 811510. https://doi.org/10.3389/fpsyg.2021.811510

Bai, C., Wang, Y., Zhang, Y., Wang, X., Chen, Z., Yu, W., Zhang, H., Li, X., Zhu, K., Wang, Y., & Zhang, T. (2023). Abnormal gray matter volume and functional connectivity patterns in social cognition-related brain regions of young children with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research, 16(6), 1124–1137. https://doi.org/10.1002/aur.2936

Bakshi, A., & Tadi, P. (2022). Biochemistry, Serotonin. In StatPearls. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK560856/

Child Mind Institute. (n.d.). Why autism diagnoses are often delayed. Child Mind Institute. https://childmind.org/article/why-autism-diagnoses-are-often-delayed/

Cleveland Clinic. (n.d.). Fragile X syndrome.

https://my.clevelandclinic.org/health/diseases/5476-fragile-x-syndrome

Coelho-Medeiros, M. E., Bronstein, J., Aedo, K., Pereira, J. A., Arraño, V., Perez, C. A.,

Valenzuela, P. M., Moore, R., Garrido, I., & Bedregal, P. (2019). M-CHAT-R/F

Validation as a screening tool for early detection in children with autism

spectrum disorder. Validación del M-CHAT-R/F como instrumento de tamizaje

para detección precoz en niños con trastorno del espectro autista. Revista

chilena de pediatria, 90(5), 492–499. https://doi.org/10.32641/rchped.v90i5.703

Courchesne, E., Campbell, K., & Solso, S. (2011). Brain growth across the life span in autism: age-specific changes in anatomical pathology. Brain research, 1380, 138–145. https://doi.org/10.1016/j.brainres.2010.09.101

Conner, C. M., Cramer, R. D., & McGonigle, J. J. (2019). Examining the Diagnostic

Validity of Autism Measures Among Adults in an Outpatient Clinic Sample.

Autism in adulthood : challenges and management, 1(1), 60–68.

https://doi.org/10.1089/aut.2018.0023

Dingemans, A.J.M., Truijen, K.M.G., van de Ven, S. et al. The phenotypic spectrum and

genotype-phenotype correlations in 106 patients with variants in major autism

gene CHD8. Transl Psychiatry 12, 421 (2022).

https://doi.org/10.1038/s41398-022-02189-1

Duvall, R. M. (2020). The relationship between autism and the multiple intelligences

theory: Identifying patterns in learning for educational purposes (Honors thesis). Digital

Commons. https://encompass.eku.edu/honors_theses/715

Ebert, D. H., & Greenberg, M. E. (2013). Activity-dependent neuronal signalling and

autism spectrum disorder. Nature, 493(7432), 327–337.

https://doi.org/10.1038/nature11860

Fishman, I., Keown, C. L., Lincoln, A. J., Pineda, J. A., & Müller, R. A. (2014).

Atypical cross talk between mentalizing and mirror neuron networks in

autism spectrum disorder. JAMA psychiatry, 71(7), 751–760.

https://doi.org/10.1001/jamapsychiatry.2014.83

Ganz J. B. (2015). AAC Interventions for Individuals with Autism Spectrum Disorders:

State of the Science and Future Research Directions. Augmentative and

alternative communication (Baltimore, Md. : 1985), 31(3), 203–214.

https://doi.org/10.3109/07434618.2015.1047532

Gasiewski, K., Weiss, M. J., Leaf, J. B., & Labowitz, J. (2021). Collaboration

between Behavior Analysts and Occupational Therapists in Autism Service

Provision: Bridging the Gap. Behavior analysis in practice, 14(4), 1209–1222.

https://doi.org/10.1007/s40617-021-00619-y

Geschwind D. H. (2011). Genetics of autism spectrum disorders.

Trends in cognitive sciences, 15(9), 409–416. https://doi.org/10.1016/j.tics.2011.07.003

Gzielo, K., & Nikiforuk, A. (2021). Astroglia in Autism Spectrum Disorder.

International journal of molecular sciences, 22(21), 11544.

https://doi.org/10.3390/ijms222111544

Ha, S., Sohn, I. J., Kim, N., Sim, H. J., & Cheon, K. A. (2015). Characteristics of Brains

in Autism Spectrum Disorder: Structure, Function and Connectivity across the Lifespan.

Experimental neurobiology, 24(4), 273–284. https://doi.org/10.5607/en.2015.24.4.273

Hashem, S., Nisar, S., Bhat, A. A., Yadav, S. K., Azeem, M. W., Bagga, P., Fakhro, K.,

Reddy, R., Frenneaux, M. P., & Haris, M. (2020). Genetics of structural and

functional brain changes in autism spectrum disorder. Translational psychiatry, 10(1), 229. https://doi.org/10.1038/s41398-020-00921-3

Hirota, T., & King, B. H. (2023). Autism Spectrum Disorder: A Review. JAMA, 329(2),

–168. https://doi.org/10.1001/jama.2022.23661

Hours, C., Recasens, C., & Baleyte, J. M. (2022). ASD and ADHD Comorbidity: What Are

We Talking About?. Frontiers in psychiatry, 13, 837424.

https://doi.org/10.3389/fpsyt.2022.837424

Hua, X., Thompson, P. M., Leow, A. D., Madsen, S. K., Caplan, R., Alger, J. R.,

O'Neill, J., Joshi, K., Smalley, S. L., Toga, A. W., & Levitt, J. G. (2013). Brain

growth rate abnormalities visualized in adolescents with autism. Human brain mapping,

(2), 425–436. https://doi.org/10.1002/hbm.21441

Inside the Autism Brain Channel: The Transmitter. (2020, October 9). [Video].

YouTube. https://www.youtube.com/watch?v=iJMWATYG9Zc

Kilner, J. M., & Lemon, R. N. (2013). What we know currently about mirror

neurons. Current biology : CB, 23(23), R1057–R1062.

https://doi.org/10.1016/j.cub.2013.10.051

Kim, S. H., Joseph, R. M., Frazier, J. A., O'Shea, T. M., Chawarska, K., Allred, E. N.,

Leviton, A., Kuban, K. K., & Extremely Low Gestational Age Newborn

(ELGAN) Study Investigators (2016). Predictive Validity of the Modified

Checklist for Autism in Toddlers (M-CHAT) Born Very Preterm. The Journal of

pediatrics, 178, 101–107.e2. https://doi.org/10.1016/j.jpeds.2016.07.052

King, M., Romski, M., & Sevcik, R. A. (2020). Growing up with AAC in the digital age: a longitudinal profile of communication across contexts from toddler to teen. Augmentative and alternative communication (Baltimore, Md. : 1985), 36(2), 128–141. https://doi.org/10.1080/07434618.2020.1782988

Kleinman, J. M., Robins, D. L., Ventola, P. E., Pandey, J., Boorstein, H. C., Esser, E. L., Wilson, L. B., Rosenthal, M. A., Sutera, S., Verbalis, A. D., Barton, M., Hodgson, S., Green, J., Dumont-Mathieu, T., Volkmar, F., Chawarska, K., Klin, A., & Fein, D. (2008). The modified checklist for autism in toddlers: a follow-up study investigating the early detection of autism spectrum disorders. Journal of autism and developmental disorders, 38(5), 827–839. https://doi.org/10.1007/s10803-007-0450-9

Kyle, S. M., Vashi, N., & Justice, M. J. (2018). Rett syndrome: a neurological

disorder with metabolic components. Open biology, 8(2), 170216.

https://doi.org/10.1098/rsob.170216

Lamanna, J., & Meldolesi, J. (2024). Autism spectrum disorder: Brain areas involved,

neurobiological mechanisms, diagnoses, and therapies. International Journal

of Molecular Sciences, 25(4), 2423. https://doi.org/10.3390/ijms25042423

Leaf, J. B., Cihon, J. H., Leaf, R., McEachin, J., Liu, N., Russell, N., Unumb, L., Shapiro,

S., & Khosrowshahi, D. (2022). Concerns About ABA-Based Intervention:

An Evaluation and Recommendations. Journal of autism and developmental disorders,

(6), 2838–2853. https://doi.org/10.1007/s10803-021-05137-y

Leblanc, L. A., Esch, J., Sidener, T. M., & Firth, A. M. (2006). Behavioral language

interventions for children with autism: comparing applied verbal behavior

and naturalistic teaching approaches. The Analysis of verbal behavior, 22(1), 49–60.

https://doi.org/10.1007/BF03393026

LeClerc, S., & Easley, D. (2015). Pharmacological therapies for autism spectrum

disorder: a review. P & T : a peer-reviewed journal for formulary

management, 40(6), 389–397. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450669/

Lordan, R., Storni, C., & De Benedictis, C. A. (2021). Autism spectrum disorders:

Diagnosis and treatment. In A. M. Grabrucker (Ed.), Autism spectrum disorders [Internet]

(Chapter 2). Exon Publications. https://www.ncbi.nlm.nih.gov/books/NBK573609/

Mandic-Maravic, V., Grujicic, R., Milutinovic, L., Munjiza-Jovanovic, A., &

Pejovic-Milovancevic, M. (2022). Dopamine in Autism Spectrum

Disorders-Focus on D2/D3 Partial Agonists and Their Possible Use in

Treatment. Frontiers in psychiatry, 12, 787097.

https://doi.org/10.3389/fpsyt.2021.787097

Marco, E. J., Hinkley, L. B., Hill, S. S., & Nagarajan, S. S. (2011). Sensory processing in

autism: a review of neurophysiologic findings. Pediatric research, 69(5 Pt 2), 48R–54R.

https://doi.org/10.1203/PDR.0b013e3182130c54

Marotta, R., Risoleo, M. C., Messina, G., Parisi, L., Carotenuto, M., Vetri, L., & Roccella,

M. (2020). The Neurochemistry of Autism. Brain sciences, 10(3), 163.

https://doi.org/10.3390/brainsci10030163

Maseri, M., Mamat, M., Yew, H. T., & Chekima, A. (2021). The Implementation of

Application Software to Improve Verbal Communication in Children with

Autism Spectrum Disorder: A Review. Children (Basel, Switzerland), 8(11), 1001.

https://doi.org/10.3390/children8111001

MedlinePlus Genetics. (n.d.). Autism spectrum disorder. National Library of Medicine.

https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/

Nadeem, M. S., Murtaza, B. N., Al-Ghamdi, M. A., Ali, A., Zamzami, M. A., Khan,

J. A., Ahmad, A., Rehman, M. U., & Kazmi, I. (2021). Autism - A Comprehensive

Array of Prominent Signs and Symptoms. Current pharmaceutical design, 27(11),

–1433. https://doi.org/10.2174/1381612827666210120095829

National Institute of Neurological Disorders and Stroke. (n.d.). Rett syndrome. National

Institutes of Health. https://www.ninds.nih.gov/health-information/disorders/rett-syndrome

National Institute on Deafness and Other Communication Disorders. (2020). Autism

spectrum disorder: Communication problems in children. National Institutes of Health.

https://www.nidcd.nih.gov/health/autism-spectrum-disorder-communication-problems-ch

ildren

Neuroscience Transmissions. (2023, May 25). The neuroscience of Autism ft. 12tone

[Video]. YouTube. https://www.youtube.com/watch?v=275TqUelUX0

Posar, A., Resca, F., & Visconti, P. (2015). Autism according to diagnostic and statistical

manual of mental disorders 5(th) edition: The need for further improvements. Journal of

pediatric neurosciences, 10(2), 146–148. https://doi.org/10.4103/1817-1745.159195

Paul R. (2008). Interventions to improve communication in autism. Child and adolescent

psychiatric clinics of North America, 17(4), 835–x.

https://doi.org/10.1016/j.chc.2008.06.011

Robins, D. L., Casagrande, K., Barton, M., Chen, C. M., Dumont-Mathieu, T., & Fein,

D. (2014). Validation of the modified checklist for Autism in toddlers,

revised with follow-up (M-CHAT-R/F). Pediatrics, 133(1), 37–45.

https://doi.org/10.1542/peds.2013-1813

Rothwell, P. E., Fuccillo, M. V., Maxeiner, S., Hayton, S. J., Gokce, O., Lim, B. K.,

Fowler, S. C., Malenka, R. C., & Südhof, T. C. (2014). Autism-associated

neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors.

Cell, 158(1), 198–212. https://doi.org/10.1016/j.cell.2014.04.045

Sharifi, O., & Yasui, D. H. (2021). The Molecular Functions of MeCP2 in Rett

Syndrome Pathology. Frontiers in genetics, 12, 624290.

https://doi.org/10.3389/fgene.2021.624290

Tian, J., Gao, X., & Yang, L. (2022). Repetitive Restricted Behaviors in Autism

Spectrum Disorder: From Mechanism to Development of Therapeutics.

Frontiers in neuroscience, 16, 780407. https://doi.org/10.3389/fnins.2022.780407

University of Maryland School of Medicine. (2023, January 24). New research shows

how brain inflammation in children may cause neurological disorders such as autism or

Schizophrenia.https://www.medschool.umaryland.edu/news/2023/new-research-shows-h

Ow-brain-inflammation-in-children-may-cause-neurological-disorders-such-as-autism-or

-schizophrenia.html

Virués-Ortega J. (2010). Applied behavior analytic intervention for autism in early

childhood: a meta-analysis, meta-regression, and dose-response meta-analysis of

multiple outcomes. Clinical psychology review, 30(4), 387–399.

https://doi.org/10.1016/j.cpr.2010.01.008

Volkmar, F. R., & Reichow, B. (2013). Autism in DSM-5: progress and challenges.

Molecular autism, 4(1), 13. https://doi.org/10.1186/2040-2392-4-13

Werkhoven, S., Anderson, J. H., & Robeyns, I. A. M. (2022). Who benefits from

Diagnostic labels for developmental disorders? Developmental medicine

and child neurology, 64(8), 944–949. https://doi.org/10.1111/dmcn.15177

Wilkinson, M., Wang, R., van der Kouwe, A., & Takahashi, E. (2016). White and gray

matter fiber pathways in autism spectrum disorder revealed by ex vivo diffusion MR

tractography. Brain and behavior, 6(7), e00483. https://doi.org/10.1002/brb3.483

Wulffaert, J., Van Berckelaer-Onnes, I. A., & Scholte, E. M. (2009). Autistic disorder

Symptoms in Rett syndrome. Autism: the international journal of research and

practice, 13(6), 567–581. https://doi.org/10.1177/1362361309338184

Xavier S. D. (2021). The relationship between autism spectrum disorder and sleep.

Sleep science (Sao Paulo, Brazil), 14(3), 193–195.

https://doi.org/10.5935/1984-0063.20210050

Posted

2024-08-25