Introduction to Autism

Autism was first identified by Leo Kanner in his article "Autistic disturbances of affective contact" in 1943 in The Nervous Child Journal[1] [2]. It currently is classified as a neurological and behavioral disorder with impaired social interaction, repetitive and restricted behavior, and various types of speech disorders[3]. On March 23, 2023, the Centers for Disease Control and Prevention (CDC Newsroom) reported Autism Prevalence according to data from 11 ADDM Autism and Developmental Disorders) reaching 1 in 36 children on the autism spectrum[4]; while in the 1970s it was more than 140-280 times rarer than today, with only 1 to 2 cases in 10,000[5] [6]. What can explain this continued increase in the incidence of autism? And why, despite the efforts of scientists, we still cannot find an answer to the true nature of autism. A possible answer is that autism is a complex, heritable multisystem disease affecting various organs and systems, in which pathological changes in the nervous system manifest themselves in the most obvious way. The types and severity of symptoms and signs of autism vary from patient to patient and tend to change during the development of an autistic child. The variety of clinical manifestations of autism are predetermined by the difference in the degree of damage to one or another organ or system of the body.

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And, most likely, solving the problem of autism, unlike many other diseases, requires the use of a systems biology-based approach, that is, methods of functional medicine.

While the source and nature of the identified inflammatory signals are still considered uncertain, some research suggests the inflammation observed in neurodevelopmental disorders might be an environmental or secondary component, rather than purely genetic[7].

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In this eBook, based on the knowledge accumulated by scientists in various fields of autism research, as well as other areas of life sciences, to formulate our understanding of the etiology and pathogenesis of this pathology and supplement with feasible approaches. For autism, as for the effective treatment of any disease, it is crucial to understand a disease’s triad: clinical manifestations (physical results of a disease or infection), pathogenesis (a disease development mechanisms, course, and outcomes), and etiology (causes and conditions of a disease's occurrence).

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By understanding these three crucial aspects of disease, one could apply a more comprehensive approach to therapy. The comprehensive approach, incorporating symptomatic and etiopathogenetic therapies, can provide a strong foundation for more effective disease treatment.

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[1] Harris JC. The origin and natural history of autism spectrum disorders. Nat Neurosci. 2016; 19(11):1390-1391. doi:10.1038/ejhg.2016.85

[2] Cohmer S. ""Autistic Disturbances of Affective Contact" (1943), by Leo Kanner". Embryo Project Encyclopedia ( 2014-05-23 ). ISSN: 1940-5030 https://hdl.handle.net/10776/7895

[3]American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders: Diagnostic and Statistical Manual of Mental Disorders (2013) Fifth Edition. Arlington, VA: American Psychiatric Association.

[4] Centers for Disease Control and Prevention: https://www.cdc.gov/media/releases/2023/p0323-autism.html [accessed 22 Jul 2024]

[5] Rutter M. Aetiology of autism: findings and questions. J Intellect Disabil Res. 2005 Apr; 49(Pt 4):231-8. doi: 10.1111/j.1365-2788.2005.00676.x. PMID: 15816809.

[6] Treffert DA. Epidemiology of infantile autism. Arch Gen Psychiatry. 1970 May; 22(5):431-8. doi: 10.1001/archpsyc.1970.01740290047006. PMID: 5436867.

[7]Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature. 2011 May 25; 474(7351):380-4. doi: 10.1038/nature10110. PMID: 21614001; PMCID: PMC3607626.