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| Main Author: | |
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| Format: | Recurso digital |
| Language: | English |
| Published: |
Zenodo
2025
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| Subjects: | |
| Online Access: | https://doi.org/10.5281/zenodo.17949207 |
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Table of Contents:
- <p>The statement “autism is genetic” is accurate but fundamentally incomplete. With her-<br>itability estimates of 64–91% and over 100 identified risk loci, the genetic basis of autism is<br>well-established. However, the conventional framing—that genes cause autism as a disorder—<br>fails to account for (a) the polygenic architecture with individually small effect sizes, (b) en-<br>hanced perceptual abilities in autistic individuals (d = 0.47–1.12), (c) the extraordinary autism-<br>savant association (OR = 109,444), and (d) the 23% non-genetic variance suggesting environ-<br>mental tuning.<br>This paper applies the Field-Node-Cockpit (FNC) framework to autism genetic ar-<br>chitecture, proposing a paradigm shift: genes do not cause a disorder—they specify tuning<br>parameters for neural information processing. Analysis of the SFARI Gene database (N =<br>1,255 autism-associated genes) reveals that 25.7% (n = 322) map directly to FNC-predicted<br>tuning categories: synaptic architecture (195 genes, 15.5%), ion channel function (89 genes,<br>7.1%), GABAergic signaling (23 genes, 1.8%), glutamatergic transmission (15 genes, 1.2%),<br>and myelination (12 genes, 1.0%). This distribution is precisely what FNC predicts for Node<br>tuning parameters—and entirely inconsistent with a “disease gene” profile.<br>Integration with GWAS Catalog data (51,813 autism associations) confirms polygenic<br>architecture with effect sizes predominantly below OR = 1.5, supporting distributed tuning<br>rather than monogenic pathology. Twin studies (MZ concordance 64–98%, DZ 0–53%) demon-<br>strate strong heritability that is nonetheless non-deterministic, consistent with genes setting<br>tuning parameters while environment and development calibrate within those parameters.<br>The FNC reframe has significant implications: if autism represents alternative tuning<br>rather than genetic pathology, then research priorities, clinical language, and screening ethics<br>require fundamental reconsideration.<br><br></p>