Autism Spectrum Disorders
“The evidence that immune dysfunction likely plays a role in the etiology/pathophysiology of ASD (autism spectrum disorder) is becoming substantial.”
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Is autism caused by brain inflammation?
Autism and immune system dysfunction
Autism and immune system dysfunction
Is autism caused by brain inflammation?

Is autism caused by brain inflammation?

Autism spectrum disorders may be caused by “environmental factors that affect cell signaling, metabolic, immune and epigenetic processes in genetically sensitive individuals.” 8 Additionally, studies indicate that neuroinflammation and immune dysfunction plays a role in ASD for a subset of patients.

“One of the major advancements in ASD research in the last 10 years is evidence that active neuroinflammation is a significant component of ASD, including chronically activated microglia.” 1

Multiple studies report that an abnormal immune function, which includes inflammation, cytokine dysregulation, and anti-brain autoantibodies, can significantly influence the development of autism spectrum disorders. These findings have led researchers to look more closely at the role of immune dysfunction and autoimmunity in ASD patients. 2

Investigators from Tufts University School of Medicine have identified high numbers of an inflammatory protein, known as Interleukin-18 (IL-18), in the brains of children with autism spectrum disorder. They also found increased levels of IL-37, an anti-inflammatory protein. 3

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Evidence supports the presence of immune dysfunction in the brains of children with autism

“Increasing evidence supports the presence of immune dysfunction and inflammation in the brains of children with ASD,” the authors concluded. 3

What exactly is triggering this inflammatory reaction is not yet known. But researchers believe that, in some cases, infections affecting the central nervous system in early childhood years may trigger an autoimmune response, causing antibodies to mistakenly attack healthy cells in the brain. These “autoantibodies” induce brain inflammation and the onset of abnormal behaviors associated with autism.

“Asymptomatic infections induce an immune response, even though disease is not present, and could still affect neurodevelopment.” (7)

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“Autoantibodies specific to self-proteins in the brain, CNS and cellular components have been frequently reported in individuals with ASD.” 1

For example, one study found, “the proportion of children with positive levels for [herpes simplex virus autoantibodies] IgM (indicative of acute infection) was significantly greater in autistics (65%) than in healthy children.” 4

And herpes simplex encephalitis was associated with the onset of autistic symptoms in a 14-year-old girl. Investigators concluded “that autoimmunity against encephalic structures elicited by HSV [herpes simplex virus] infections could be involved in autism.” 5

Another case report describes a toddler who developed “regressive behaviors and autistic features” when she contracted enterovirus encephalitis. 6

Meanwhile, other studies have found the exposure rate and titer of varicella zoster virus autoantibodies to be “significantly higher in children with ASD.” 6

“The presence of autoantibodies in individuals with ASD is increased, and evidence of neuroinflammation has been substantiated both in vivo and in post-mortem brain tissue.” 1

Investigators point out, however, that some individuals may not display outwards signs of infection but instead suffer from subclinical (or asymptomatic) infections. For instance, polyomavirus (typically an asymptomatic infection) was found “more frequent in the brains of patients with autism,” according to Lintas et al. 7

“Asymptomatic infections induce an immune response, even though disease is not present, and could still affect neurodevelopment,” Lintas warns. 7

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  1. Hughes HK, Mills Ko E, Rose D, Ashwood P. Immune Dysfunction and Autoimmunity as Pathological Mechanisms in Autism Spectrum Disorders. Front Cell Neurosci. 2018;12:405. Published 2018 Nov 13. doi:10.3389/fncel.2018.00405 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6242891/
  2. Meltzer A, Van de Water J. The Role of the Immune System in Autism Spectrum Disorder. Neuropsychopharmacology. 2017;42(1):284–298. doi:10.1038/npp.2016.158 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143489/
  3. Irene Tsilioni, Arti B. Patel, Harry Pantazopoulos, Sabina Berretta, Pio Conti, Susan E. Leeman, Theoharis C. Theoharides. IL-37 is increased in brains of children with autism spectrum disorder and inhibits human microglia stimulated by neurotensin. Proceedings of the National Academy of Sciences Oct 2019, 116 (43) 21659-21665; DOI: 10.1073/pnas.1906817116 https://www.pnas.org/content/116/43/21659
  4. Zappulo et al. Prevalence of HSV1/2 Congenital Infection Assessed Through Genome Detection on Dried Blood Spot in Individuals with Autism Spectrum Disorders. In Vivo. 2018 Sep-Oct; 32(5): 1255–1258. doi: 10.21873/invivo.11373 https://www.ncbi.nlm.nih.gov/pubmed/19961054
  5. Gillberg C. Onset at age 14 of a typical autistic syndrome. A case report of a girl with herpes simplex encephalitis. J Autism Dev Disord. 1986 Sep;16(3):369-75. https://www.ncbi.nlm.nih.gov/pubmed/3558293
  6. Marques et al. Autism spectrum disorder secondary to enterovirus encephalitis. J Child Neurol. 2014 May;29(5):708-14. doi: 10.1177/0883073813508314. https://www.ncbi.nlm.nih.gov/pubmed/24782421
  7. Lintas et al. Association of autism with polyomavirus infection in postmortem brains. J Neurovirol. 2010 Mar;16(2):141-9. doi: 10.3109/13550281003685839. https://www.ncbi.nlm.nih.gov/pubmed/20345322
  8. Frye RE, Rossignol DA. Identification and Treatment of Pathophysiological Comorbidities of Autism Spectrum Disorder to Achieve Optimal Outcomes. Clin Med Insights Pediatr. 2016;10:43-56. Published 2016 Jun 15. doi:10.4137/CMPed.S38337 https://pubmed.ncbi.nlm.nih.gov/27330338/
Learn More About Testing
Is autism caused by brain inflammation?

Recently, there has been mounting evidence indicating an association between brain inflammation and autism spectrum disorders.

Infections may result in developing autism from immune system dysfunction
Mounting evidence indicates an association between brain inflammation and autism spectrum disorders

Learn more about how infections can trigger neuropsychiatric symptoms

Cunningham Panel helps identify an autoimmune disorder in child initially diagnosed with schizophrenia

Cunningham Panel™ helps identify an autoimmune disorder in child initially diagnosed with schizophrenia

Researchers describe a complex case involving a 15-year-old girl, who abruptly developed multiple neurologic and psychiatric symptoms.

The association between streptococcus pyogenes and tics/OCD

The association between streptococcus pyogenes and tics/OCD

In this book chapter, Dr. Madeleine Cunningham explains the association between Group A strep and the onset of tics and/or OCD and their clinical manifestations in children with the autoimmune neuropsychiatric disorder, PANDAS.

Childhood infections can increase risk of mental illness in kids

Childhood infections can increase risk of mental illness in kids

Nationwide study finds both mild and severe infections can increase risk of mental disorders in children and adolescents..

  • Test Order Process
    The Cunningham Panel™ – Antibody testing that helps determine whether an autoimmune response may be triggering neurologic and/or psychiatric symptoms.
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B. Robert Mozayeni, MD

Medical and Clinical Advisor

B. Robert Mozayeni MD

Dr. B. Robert Mozayeni was trained in Internal Medicine and Rheumatology at Yale and at NIH. He has had pre- and post-doctoral Fellowships in Molecular Biophysics and Biochemistry at Yale, and also at NIH where he was a Howard Hughes Research Scholar at LMB/DCBD/NCI and later, Senior Staff Fellow at LMMB/NHLBI/NIH. Editorial board of Infectious Diseases – Surveillance, Prevention and Treatment. Past President of the International Lyme and Associated Diseases Society (ILADS).

He is an expert in Translational Medicine, the science and art of advancing medical science safely and efficiently. He is a Fellow of the non-profit Think Lead Innovate Foundation and is a co-founder of the Foundation for the Study of Inflammatory Diseases. He is a Founder of the Foundation for the Study of Inflammatory Diseases to crowd-source medical solutions for complex conditions using existing knowledge, diagnostic methods, and therapies to meet patient needs immediately. He is the Chief Medical Officer of Galaxy Diagnostics, LLC. He is a Board member of the Human-Kind Alliance. Dr. Mozayeni has held admitting privileges (since 1994) on the clinical staff of Suburban Hospital, a member of Johns Hopkins Medicine and an affiliate of the National Institutes of Health Clinical Center.

Safedin Sajo Beqaj, PhD, HCLD, CC (ABB)

Moleculera Labs, Clinical Laboratory Advisor
Medical Database, Inc., President and CEO

Sajo Baqaj, PhD

Dr. Sajo Beqaj is board certified in molecular pathology and genetics and licensed as a Bioanalyst and High Complexity Laboratory Director. He has been practicing as a laboratory director since 2005.

Dr. Beqaj served as a technical director and was part of the initial management team for several well-known laboratories in the clinical lab industry including PathGroup, Nashville, TN; DCL Medical Laboratories, Indianapolis, IN, and Pathology, Inc, Torrance, CA. He is currently serving as off-side CLIA laboratory director for BioCorp Clinical Laboratory, Whittier, CA and Health360 Labs, Garden Grove, CA.

Dr. Beqaj received his Ph.D. in Pathology from Wayne State University Medical School, Detroit, Michigan. He performed his post-doctoral fellowship at Abbott Laboratories from 2001-2003 and with Children’s Hospital and Northwestern University from 2003-2005.

Dr. Beqaj has taught in several academic institutions and has published numerous medical textbook chapters and journal articles. He has served as a principal investigator in clinical trials for several well-known pharmaceutical and diagnostic companies such as Roche HPV Athena, Merck HPV vaccine, BD vaginitis panel, Roche (Vantana) CINtec® Histology clinical trials, and has presented various scientific clinical abstracts and presentations.

He is a member of several medical and scientific associations including the Association of Molecular Pathology, American Association of Clinical Chemistry and the Pan Am Society for Clinical Virology. He has served on a number of clinical laboratory regulatory and scientific committees, and has assisted several laboratories and physicians as a Clinical Laboratory Consultant.

Rodney Cotton, MBA

Moleculera Labs Board Member

Rodney Cotton, MBA

Rodney Cotton, MBA is an entrepreneurial thought leader in the pharmaceutical/biotech industry who is known for his holistic perspective, bias for action in the face of challenges, and commitment to agile processes.

Rod is an independent director for Orchard Software, a private equity-backed health technology company owned by Francisco Partners; an advisory board member to Flo2 Ventures, a venture capital-backed healthcare and health equity accelerator; and a member of the board of directors and three board committees (Audit, Compliance & Finance; Governance & Equity; and Quality of Care) for Community Health Network.

He built a successful career at Roche spanning more than two decades and culminating in the role of SVP, Head of Strategy & Transformation, and Chief of Staff to the CEO for Roche Diagnostics, the North American headquarters of the world’s largest ($17B) diagnostics company.

While at Roche, Rod led key enterprise initiatives, such as milestone corporate communications, health equity coalitions, the US/Roche Group audit, and global/US acquisition integrations. With 40+ years of experience, he drove the financial turnaround and cultural transformation of four global healthcare companies, led teams of up to 280 total reports, managed P&L of more than $1 billion, and served as a key member of the senior leadership team executing the most significant restructuring of the company in two decades.

In the face of the COVID-19 pandemic, Rod and his team at Roche accelerated six ground breaking products in 11 months, including the first launch of the market’s most accurate and in demand molecular diagnostic test. He also solved extraordinary challenges of product scarcity, supply chain, product allocation, and logistics to achieve accelerated global sourcing and self manufacturing in line with testing guidelines.

A frequent public speaker on health equity and other topics, Rod was named one of the Most Influential Black Executives in Corporate America by Savoy Magazine and one of the Top Blacks in Healthcare by BlackDoctor.org. He also received The Sagamore of the Wabash Award, one of the highest Indiana State honors, bestowed by Indiana Governor Eric J. Holcomb.

Rod holds an M.B.A. from California State University, Dominguez Hills, an M.S. in Strategic Management from the University of Southern California, and a B.A. in Biological Sciences & Technology from the University of California at Santa Barbara.