Autism – References

Richard E. Frye

Current: Chief Scientific Officer, Autism Discovery and Treatment Foundation, Phoenix, AZ (autismdiscovery.org)

Dr. Frye is a Harvard trained Child Neurologist who received both an MD and PhD from Georgetown University. Dr. Frye

References

Autism – References

  1. Soke, G.N.; Maenner, M.J.; Christensen, D.; Kurzius-Spencer, M.; Schieve, L.A. Prevalence of Co-occurring Medical and Behavioral Conditions/Symptoms Among 4- and 8-Year-Old Children with Autism Spectrum Disorder in Selected Areas of the United States in 2010. Journal of autism and developmental disorders 2018, 48, 2663-2676, doi:10.1007/s10803-018-3521-1.
  2. Vargason, T.; Frye, R.E.; McGuinness, D.L.; Hahn, J. Clustering of co-occurring conditions in autism spectrum disorder during early childhood: A retrospective analysis of medical claims data. Autism research : official journal of the International Society for Autism Research 2019, 12, 1272-1285, doi:10.1002/aur.2128.
  3. Parikh, S.; Goldstein, A.; Karaa, A.; Koenig, M.K.; Anselm, I.; Brunel-Guitton, C.; Christodoulou, J.; Cohen, B.H.; Dimmock, D.; Enns, G.M.; et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med 2017, 19, doi:10.1038/gim.2017.107.
  4. Clemente-Suarez, V.J.; Redondo-Florez, L.; Beltran-Velasco, A.I.; Ramos-Campo, D.J.; Belinchon-deMiguel, P.; Martinez-Guardado, I.; Dalamitros, A.A.; Yanez-Sepulveda, R.; Martin-Rodriguez, A.; Tornero-Aguilera, J.F. Mitochondria and Brain Disease: A Comprehensive Review of Pathological Mechanisms and Therapeutic Opportunities. Biomedicines 2023, 11, doi:10.3390/biomedicines11092488.
  5. Frye, R.E.; Rose, S.; Slattery, J.; MacFabe, D.F. Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome. Microb Ecol Health Dis 2015, 26, 27458, doi:10.3402/mehd.v26.27458.
  6. Frye, R.E. A Personalized Multidisciplinary Approach to Evaluating and Treating Autism Spectrum Disorder. J Pers Med 2022, 12, doi:10.3390/jpm12030464.
  7. Walker, M.A.; Slate, N.; Alejos, A.; Volpi, S.; Iyengar, R.S.; Sweetser, D.; Sims, K.B.; Walter, J.E. Predisposition to infection and SIRS in mitochondrial disorders: 8 years’ experience in an academic center. J Allergy Clin Immunol Pract 2014, 2, 465-468, 468 e461, doi:10.1016/j.jaip.2014.02.009.
  8. Edmonds, J.L.; Kirse, D.J.; Kearns, D.; Deutsch, R.; Spruijt, L.; Naviaux, R.K. The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection. Arch Otolaryngol Head Neck Surg 2002, 128, 355-362, doi:10.1001/archotol.128.4.355.
  9. Hughes, H.K.; Mills Ko, E.; Rose, D.; Ashwood, P. Immune Dysfunction and Autoimmunity as Pathological Mechanisms in Autism Spectrum Disorders. Frontiers in cellular neuroscience 2018, 12, 405, doi:10.3389/fncel.2018.00405.
  10. Bernier, F.P.; Boneh, A.; Dennett, X.; Chow, C.W.; Cleary, M.A.; Thorburn, D.R. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002, 59, 1406-1411, doi:10.1212/01.wnl.0000033795.17156.00.
  11. Morava, E.; van den Heuvel, L.; Hol, F.; de Vries, M.C.; Hogeveen, M.; Rodenburg, R.J.; Smeitink, J.A. Mitochondrial disease criteria: diagnostic applications in children. Neurology 2006, 67, 1823-1826, doi:10.1212/01.wnl.0000244435.27645.54.
  12. Rossignol, D.A.; Frye, R.E. A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures. Molecular psychiatry 2012, 17, 389-401, doi:10.1038/mp.2011.165.
  13. Rossignol, D.A.; Frye, R.E. Evidence linking oxidative stress, mitochondrial dysfunction, and inflammation in the brain of individuals with autism. Frontiers in physiology 2014, 5, 150, doi:10.3389/fphys.2014.00150.
  14. Frye, R.E.; Cakir, J.; Rose, S.; Palmer, R.F.; Austin, C.; Curtin, P.; Arora, M. Mitochondria May Mediate Prenatal Environmental Influences in Autism Spectrum Disorder. J Pers Med 2021, 11, doi:10.3390/jpm11030218.
  15. Cieślik, M.; Zawadzka, A.; Czapski, G.A.; Wilkaniec, A.; Adamczyk, A. Developmental Stage-Dependent Changes in Mitochondrial Function in the Brain of Offspring Following Prenatal Maternal Immune Activation. Int J Mol Sci 2023, 24, doi:10.3390/ijms24087243.
  16. Zolkipli-Cunningham, Z.; Naviaux, J.C.; Nakayama, T.; Hirsch, C.M.; Monk, J.M.; Li, K.; Wang, L.; Le, T.P.; Meinardi, S.; Blake, D.R.; et al. Metabolic and behavioral features of acute hyperpurinergia and the maternal immune activation mouse model of autism spectrum disorder. PLoS One 2021, 16, e0248771, doi:10.1371/journal.pone.0248771.
  17. Frye, R.E.; Rincon, N.; McCarty, P.J.; Brister, D.; Scheck, A.C.; Rossignol, D.A. Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis. Neurobiol Dis 2024, 197, 106520, doi:10.1016/j.nbd.2024.106520.
  18. Frye, R.E.; McCarty, P.J.; Werner, B.A.; Rose, S.; Scheck, A.C. Bioenergetic signatures of neurodevelopmental regression. Frontiers in physiology 2024, 15, 1306038, doi:10.3389/fphys.2024.1306038.
  19. Frye, R.E.; Cakir, J.; Rose, S.; Delhey, L.; Bennuri, S.C.; Tippett, M.; Melnyk, S.; James, S.J.; Palmer, R.F.; Austin, C.; et al. Prenatal air pollution influences neurodevelopment and behavior in autism spectrum disorder by modulating mitochondrial physiology. Molecular psychiatry 2021, 26, 1561-1577, doi:10.1038/s41380-020-00885-2.
  20. Frye, R.E.; Cakir, J.; Rose, S.; Delhey, L.; Bennuri, S.C.; Tippett, M.; Palmer, R.F.; Austin, C.; Curtin, P.; Arora, M. Early life metal exposure dysregulates cellular bioenergetics in children with regressive autism spectrum disorder. Transl Psychiatry 2020, 10, 223, doi:10.1038/s41398-020-00905-3.
  21. Frye, R.E.; Lane, A.; Worner, A.; Werner, B.A.; McCarty, P.J.; Scheck, A.C.; Collins, H.L.; Adelman, S.J.; Quadros, E.V.; Rossignol, D.A. The Soluble Folate Receptor in Autism Spectrum Disorder: Relation to Autism Severity and Leucovorin Treatment. J Pers Med 2022, 12, doi:10.3390/jpm12122033.
  22. Rossignol, D.A.; Frye, R.E. Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis. J Pers Med 2021, 11, doi:10.3390/jpm11111141.
  23. Hill, Z.; McCarty, P.J.; Boles, R.G.; Frye, R.E. A Mitochondrial Supplement Improves Function and Mitochondrial Activity in Autism: A Double-Blind Placebo-Controlled Cross-Over Trial. International Journal of Molecular Sciences 2025, 26, 2479.
  24. Frye, R.E. Mitochondrial Dysfunction in Autism Spectrum Disorder: Unique Abnormalities and Targeted Treatments. Semin Pediatr Neurol 2020, 35, 100829, doi:10.1016/j.spen.2020.100829.
  25. Miller, V.J.; LaFountain, R.A.; Barnhart, E.; Sapper, T.S.; Short, J.; Arnold, W.D.; Hyde, P.N.; Crabtree, C.D.; Kackley, M.L.; Kraemer, W.J.; et al. A ketogenic diet combined with exercise alters mitochondrial function in human skeletal muscle while improving metabolic health. American Journal of Physiology-Endocrinology and Metabolism 2020, 319, E995-E1007, doi:10.1152/ajpendo.00305.2020.
  26. Monda, A.; La Torre, M.E.; Messina, A.; Di Maio, G.; Monda, V.; Moscatelli, F.; De Stefano, M.; La Marra, M.; Padova, M.D.; Dipace, A.; et al. Exploring the ketogenic diet’s potential in reducing neuroinflammation and modulating immune responses. Front Immunol 2024, 15, 1425816, doi:10.3389/fimmu.2024.1425816.
  27. Howsmon, D.P.; Kruger, U.; Melnyk, S.; James, S.J.; Hahn, J. Classification and adaptive behavior prediction of children with autism spectrum disorder based upon multivariate data analysis of markers of oxidative stress and DNA methylation. PLoS Comput Biol 2017, 13, e1005385, doi:10.1371/journal.pcbi.1005385.
  28. Howsmon, D.P.; Vargason, T.; Rubin, R.A.; Delhey, L.; Tippett, M.; Rose, S.; Bennuri, S.C.; Slattery, J.C.; Melnyk, S.; James, S.J.; et al. Multivariate techniques enable a biochemical classification of children with autism spectrum disorder versus typically-developing peers: A comparison and validation study. Bioeng Transl Med 2018, 3, 156-165, doi:10.1002/btm2.10095.
  29. Ghezzi, P.; Lemley, K.V.; Andrus, J.P.; De Rosa, S.C.; Holmgren, A.; Jones, D.; Jahoor, F.; Kopke, R.; Cotgreave, I.; Bottiglieri, T.; et al. Cysteine/Glutathione Deficiency: A Significant and Treatable Corollary of Disease. In The Therapeutic Use of N-Acetylcysteine (NAC) in Medicine, Frye, R.E., Berk, M., Eds.; Springer Singapore: Singapore, 2019; pp. 349-386.
  30. Rossignol, D.A.; Frye, R.E. The Effectiveness of Cobalamin (B12) Treatment for Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. J Pers Med 2021, 11, doi:10.3390/jpm11080784.
  31. Hollowood-Jones, K.; Adams, J.B.; Coleman, D.M.; Ramamoorthy, S.; Melnyk, S.; James, S.J.; Woodruff, B.K.; Pollard, E.L.; Snozek, C.L.; Kruger, U.; et al. Altered metabolism of mothers of young children with Autism Spectrum Disorder: a case control study. BMC Pediatr 2020, 20, 557, doi:10.1186/s12887-020-02437-7.
  32. Han, V.X.; Patel, S.; Jones, H.F.; Dale, R.C. Maternal immune activation and neuroinflammation in human neurodevelopmental disorders. Nat Rev Neurol 2021, 17, 564-579, doi:10.1038/s41582-021-00530-8.
  33. Desai, A.; Sequeira, J.M.; Quadros, E.V. Prevention of behavioral deficits in rats exposed to folate receptor antibodies: implication in autism. Molecular psychiatry 2017, 22, 1291-1297, doi:10.1038/mp.2016.15.

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