Autism Spectrum Disorders
Autism, or autism spectrum disorder (ASD), is a complex neurological and developmental condition that typically begins in early childhood. It usually appears by age 2 or 3 but can be diagnosed as early as 18 months.2 Autism is characterized by impaired communication, difficulty with social interaction and rigid, repetitive patterns of behavior. The range and severity of symptoms can vary widely.
The cause of autism is still unknown but both environmental and genetic factors are believed to play key roles. 13  In addition, “accumulating evidence indicates that immune [system] dysfunction is associated with autism disorders in a significant subset of children.” 3

Autism and immune system dysfunction

Autism and immune system dysfunction research has shown that immune abnormalities can occur on many levels. For instance, when postmortem brains of autism patients were examined, investigators found chronic brain inflammation, activated microglia, increased inflammatory cytokines, altered blood brain barrier, and autoantibodies targeting the brain and central nervous system (CNS). 4

Meanwhile, researchers from Beth Israel Deaconess Medical Center report finding the presence of “cellular features consistent with an immune response targeting specialized brain cells in more than two thirds of autistic brains analyzed postmortem.” 5

“With this new research, we haven’t proved causality, but this is one clue in support of the idea that autism might be an autoimmune disorder, just like multiple sclerosis is thought to be,” said Anderson, lead author of the study. 5

Get treated for treatment-resistant symptoms

Chronic brain inflammation (neuroinflammation) can be caused by multiple factors. Traumatic brain injury, environmental stressors, toxins, autoimmunity and infectious pathogens have all been associated with neuroinflammation. 12

In recent years, researchers have found evidence that “active neuroinflammation is a significant component of ASD [autism spectrum disorders].” 1

Some individuals with autism and immune system dysfunction may have an infection-driven autoimmune reaction causing neuroinflammation. This autoimmune attack on the brain may result in inflammation and behaviors associated with autism spectrum disorders.

Neuroinflammation found in brains of some autism patients

Many studies indicate that individuals with autism “have brain pathology suggestive of ongoing neuroinflammation or encephalitis in different regions of their brains.” In fact one study reports, at least 69% of people with autism spectrum disorder have microglial activation or neuroinflammation/encephalitis. 6

Neuroinflammation or autoimmune encephalopathy can be triggered, in part, by an infection. “It is plausible that systemic inflammation and/or infection could trigger the inflammation or encephalitis seen in the brains of children with an ASD.” 6

Therefore, many believe that “addressing inflammatory processes could be the aim of the next pharmacological therapy for [autism spectrum disorder].” 4 Clinical trials have already demonstrated the benefits of immunosuppressive treatment for a subset of patients with autism. 1

Autism symptoms may improve with encephalitis treatment

“Several studies that link encephalitis with the onset of autism or an ASD, also report the improvement or amelioration of autism/ASD symptoms when the encephalitis was treated.” 7

Autoantibodies specifically targeting cells in the brain have been identified in ASD patients. These autoantibodies have been found in the prefrontal cortex, caudate, putamen, cerebellum and cingulated gyrus regions of the brain 10 and hypothalamus 11 in children with autism spectrum disorder.

Utilizing the Cunningham Panel™ of tests, one study found that a majority of patients with autism spectrum disorder had elevated levels of autoantibodies directed against brain tissue. For this group of patients, intravenous immunoglobulin (IVIG) treatments were effective in reducing symptoms. And the Cunningham Panel™ predicted response to IVIG treatment with an accuracy of 81-88%. 8

Read highlights of the study: Intravenous immunoglobulin for the treatment of autoimmune encephalopathy in children with autism

Similar studies have also shown positive results. “Following treatment with IVIG, significant improvement [in autism behaviors] was observed — and significant reductions were seen in the markers of neuroinflammation.” 9

  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. Estimated Prevalence of Autism and Other Developmental Disabilities Following Questionnaire Changes in the 2014 National Health Interview Survey. Natl Health Stat Report. 2015 Nov 13;(87):1-20. https://www.ncbi.nlm.nih.gov/pubmed/26632847 
  3. Enstrom A, Krakowiak P, Onore C, et al. Increased IgG4 levels in children with autism disorder. Brain Behav Immun. 2009;23(3):389–395. doi:10.1016/j.bbi.2008.12.005 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2696343/ 
  4. Siniscalco D, Schultz S, Brigida AL, Antonucci N. Inflammation and Neuro-Immune Dysregulations in Autism Spectrum Disorders. Pharmaceuticals (Basel). 2018;11(2):56. Published 2018 Jun 4. doi:10.3390/ph11020056 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027314/
  5. DiStasio et al. T lymphocytes and cytotoxic astrocyte blebs correlate across autism brains. Annals of Neurology. 2019 Oct 8. https://doi.org/10.1002/ana.25610 https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25610
  6. Kern JK, Geier DA, Sykes LK, Geier MR. Relevance of Neuroinflammation and Encephalitis in Autism. Front Cell Neurosci. 2016;9:519. Published 2016 Jan 19. doi:10.3389/fncel.2015.00519 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717322/
  7. McDougle CJ, Carlezon WA Jr. Neuroinflammation and autism: toward mechanisms and treatments. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 2013 Jan;38(1):241-242. DOI: 10.1038/npp.2012.174 https://europepmc.org/article/PMC/3521978
  8. Connery, K., Tippett, M., Delhey, L.M. et al. Intravenous immunoglobulin for the treatment of autoimmune encephalopathy in children with autism. Transl Psychiatry 8, 148 (2018). https://doi.org/10.1038/s41398-018-0214-7 https://www.nature.com/articles/s41398-018-0214-7
  9. Melamed et al. A pilot study of high‐dose intravenous immunoglobulin 5% for autism: Impact on autism spectrum and markers of neuroinflammation. Autism Research. 2018 Feb 10. https://doi.org/10.1002/aur.1906 https://onlinelibrary.wiley.com/doi/pdf/10.1002/aur.1906
  10. Singer et al. Antibrain antibodies in children with autism and their unaffected siblings. Journal of Neuroimmunology. Volume 178, Pg 149-155, Sept 1, 2006. DOI:https://doi.org/10.1016/j.jneuroim.2006.05.025 https://www.ncbi.nlm.nih.gov/pubmed/16842863
  11. Cabanlit et al. Brain‐Specific Autoantibodies in the Plasma of Subjects with Autistic Spectrum Disorder. The New York Academy of Sciences. 2007 Aug 28. https://doi.org/10.1196/annals.1381.010 https://www.ncbi.nlm.nih.gov/pubmed/17804536
  12. DiSabato DJ, Quan N, Godbout JP. Neuroinflammation: the devil is in the details. J Neurochem. 2016;139 Suppl 2(Suppl 2):136–153. doi:10.1111/jnc.13607 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025335/
  13. Rossignol, D. A., & Frye, R. E. (2012). A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures. Mol Psychiatry, 17(4), 389-401. doi:10.1038/mp.2011.165 https://pubmed.ncbi.nlm.nih.gov/22143005/
immune system abnormalities were found in brains of autism patients

Systemic inflammation and/or infection could trigger the inflammation seen in the brains of children with autism.

Infections may result in developing autism from immune system dysfunction
Autism and immune system dysfunction

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 kidss

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.

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.