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March 14, 2025 – A groundbreaking study led by Dr. Jonathan D. Santoro, Director of the Neuroimmunology Program at Children’s Hospital Los Angeles, provides compelling evidence linking blood-brain barrier dysfunction and central nervous system inflammation to Down syndrome regression disorder (DSRD). Published in the Annals of Clinical and Translational Neurology on February 25, 2025, the study represents a significant step forward in understanding this rare yet increasingly diagnosed condition.
Breakthrough in DSRD Research
Dr. Santoro collaborated with Dr. Saba Jafarpour, Natalie K. Boyd, Benjamin N. Vogel, Lina Nguyen, and Lilia Kazerooni from CHLA’s Neurological Institute, alongside the Linda Crnic Institute at the University of Colorado, led by Dr. Joaquin Espinosa. Their research identifies clear indications of neuroinflammation and blood-brain barrier dysfunction, which could redefine how DSRD is diagnosed and treated.
“This is a huge missing piece in the puzzle of what we know about Down syndrome regression disorder,” Dr. Santoro stated.
Understanding Down Syndrome Regression Disorder
DSRD is a condition that causes rapid neurological decline in individuals with Down syndrome, leading to sudden loss of basic functions, including speech, mobility, and self-care. Previously thought to be a psychiatric condition or a form of early-onset Alzheimer’s, recent research suggests that DSRD is linked to immune system dysfunction.
The study involved an in-depth analysis of cerebrospinal fluid samples from individuals with DSRD, patients with known neuroinflammatory conditions, and neurotypical control subjects. Researchers found proteomic and metabolic signatures consistent with neuroinflammation and increased permeability of the blood-brain barrier.
“The blood-brain barrier is critical for keeping the immune system out of the brain,” Dr. Santoro explained. “Any disruption could be enough to cause neurologic disease.”
Paving the Way for New Treatments
Dr. Santoro and his team previously found success treating DSRD patients with high-dose steroids and intravenous immunoglobulin (IVIG), enabling many individuals to regain lost abilities. The latest findings further support the immune-related nature of DSRD and have prompted a Phase IIb clinical trial to assess the safety and efficacy of immunotherapy.
“The implications of these findings are profound and will hopefully serve as the next step for finding the cause of DSRD,” Dr. Santoro noted.
A Step Forward in Neurological Research
This research represents a significant step in understanding neuroinflammatory conditions in individuals with Down syndrome. The discovery of blood-brain barrier dysfunction as a key component of DSRD could lead to more targeted treatments, improving the lives of those affected by this disorder.
Disclaimer
This article is for informational purposes only and does not constitute medical advice. Readers are encouraged to consult healthcare professionals for medical concerns related to Down syndrome regression disorder or any other condition.
