New Research Shows Rare Gene Variants Can Impact Neuropsychiatric Disorders Triggered By Strep And Other Infections


Herb Lachman, MD and Peter van der Spek, MD

“Those in attendance learned from world-renowned experts how to distinguish immune-mediated mental health disorders from primary psychiatric disorders; the symptoms are similar but the cause is different and requires treatment of the underlying infection like strep or lyme disease.”

Researchers from the US and the Netherlands released new findings at a symposium in Portsmouth, New Hampshire that could impact future testing for post-infectious neuropsychiatric disorders called PANDAS (Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus) and PANS (Pediatric Acute-onset Neuropsychiatric Syndrome)

Experts say the rapid onset of OCD, anxiety, and tics in children and young adults can be triggered by infections such as strep (streptococcal) bacteria, however, the underlying infectious cause is not widely recognized or treated. According to Herb Lachman,MD, a significant problem in PANDAS and PANS disorders is the lack of reliable tests that can be used to help physicians diagnose the condition. In addition, the response to various immune-based treatments is variable. Says Lachman, “These problems create PANS skepticism among physicians, preventing PANS patients from getting proper care. One way to address this conundrum is to identify genes that might be involved in the predisposition to develop PANS.”

DNA sequencing studies carried out by Drs. Lachman, Peter van der Spek, and Rosario Trifiletti have resulted in the identification of more than a dozen such genes. The studies show that the PANS clinical state can be caused by several different pathways including dysfunction of immune regulation and alterations in the function of glutamatergic neurons, one of the major neurotransmitter systems in the brain. In addition, overlap was found between the mutations that increase PANS susceptibility with autism spectrum disorders and immune disorders.

Says Lachman, “With additional genetic studies, we hope to identify new treatment paradigms or match specific immune-modulating medications to patients depending on their underlying genetic profile.”

The team released their findings at the symposium, entitled PANDAS/PANS: Recognizing, Understanding and Treating Immune-Mediated Neuropsychiatric Disorders in Portsmouth, New Hampshire last week. Other new advances were also discussed. Says organizer Susan Manfull, PhD, who lost her daughter to PANDAS, “The Alex Manfull Fund is a nonprofit organization that is committed to providing an opportunity for clinicians to discuss early detection and treatment.” The event was filled to capacity and videotaped recordings will be available for viewing on the website soon at no charge: TheAlexManfullFund.org

Says Manfull, “Those in attendance learned from world-renowned experts how to distinguish immune-mediated mental health disorders from primary psychiatric disorders; the symptoms are similar but the cause is different and requires treatment of the underlying infection like strep or lyme disease.”

About The Alex Manfull Fund

The Alex Manfull Fund was established in 2018 to build awareness of PANDAS/PANS so young people will have improved treatment outcomes. Alex Manfull was 26 when she died from the effects of PANDAS. Her parents started the nonprofit organization to honor their daughter’s legacy: TheAlexManfullFund.org

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