New NIH-funded study will investigate debilitating disease

Denver, CO, Sept. 29, 2022 (GLOBE NEWSWIRE) — Scientists and physicians from the Linda Crnic Institute for Down Syndrome at the University of Colorado, Children’s Hospital Colorado (CHCO) and Children’s Hospital Los Angeles (CHLA) are se are associated with identifying effective treatments for people with Down syndrome regression disorder (DSRD).

This new study, which will be funded over five years by a $5.3 million grant from the Eunice Kennedy Shriver The National Institute for Child Health and Human Development (NICHD) is a first-in-kind holistic investigation into the potential causes of DSRD as well as promising treatment approaches for this debilitating disease affecting a small but growing percentage of adolescents and young adults with Down. syndrome. The multidisciplinary team is led by Dr. Joaquín Espinosa, Executive Director of the Crnic Institute, Dr. Elise Sannar, Assistant Professor of Psychiatry at CHCO, and Dr. Jonathan D. Santoro, Director of Neuroimmunology and Assistant Professor of Neurology and of Pediatrics at CHLA and the Keck School of Medicine at the University of Southern California. The Crnic Institute is an affiliate organization of the Global Down Syndrome Foundation (GLOBAL) and the largest Down syndrome research center in the world.

DSRD is a serious neurological condition with symptoms such as acute loss of speech, inability to perform activities of daily living, catatonia, hallucinations, delusions, depersonalization, insomnia and ‘aggressiveness. Although rare, adolescents and young adults with Down syndrome appear to be at higher risk of contracting this disease.

Lina Patel, PsyD, associate professor of psychiatry at the University of Colorado School of Medicine and member of the Crnic Institute research team says, “DSRD is often described as a condition in which a person withdraws in his own inner world. Many common daily activities are suddenly interrupted, such as going to the bathroom, eating, communicating with others – everything suddenly goes away and they lose a lot of the skills they have acquired during their lifetime.

Eileen Quinn, MD, is an associate professor of pediatrics at the University of Toledo College of Medicine and Life Sciences and runs a Facebook group for families and healthcare professionals seeking answers about DSRD. She started the group after her own daughter Sara, who has Down syndrome, began to show signs of regression.

“I was terrified, because I could tell what it was, and I knew there were no right answers.”

Prior to undergoing a regression, an evaluation from Sara’s elementary school teacher noted, “Sara has a bright personality” and “lots of friends who want to hang out with her.” But, after starting middle school, Sara suddenly became withdrawn, unable to make eye contact, and developed repetitive and ritualistic behaviors among other symptoms.

“Losing her like that, so abruptly and completely…it was just awful,” Quinn said.

According to Quinn, it took years of seeking treatment and trying many drugs and therapies to see some improvement, but she thinks Sara isn’t as capable as she could be with more effective treatments.

It’s stories like Sara’s that inspired this multidisciplinary research team to develop an ambitious study into the causes and potential treatments for DSRD.

Currently, the true cause of DSRD is unknown. Until recently, it was considered a strictly psychiatric condition and was often misdiagnosed with more common conditions such as autism spectrum disorder (ASD) or early-onset Alzheimer’s disease in people with the syndrome. of Down. However, emerging research from CHCO and CHLA has revealed a possible immune mechanism in some patients.

“Growing evidence points to dysregulation of the immune system as a possible mechanism underlying DSRD,” says Dr. Espinosa. “Research at the Crnic Institute has shown that people with Down syndrome suffer from chronic hyper-inflammation throughout their lives and are highly predisposed to developing autoimmune diseases. In many ways, DSRD resembles neurological conditions where the immune system attacks the brain, such as autoimmune encephalitis.

This new research study will focus on investigating the role of the immune system in DSRD as well as comparing current treatments to find the most effective option. To do this, the team will conduct a research-intensive clinical trial to compare the safety and efficacy of three alternative therapeutic approaches: two promising immunomodulatory drugs, intravenous immunoglobulin (IVIg) and JAK inhibitor, tofacitinib (also known as Xeljanz), and the psychiatric drug Lorazepam, a benzodiazepine used to treat catatonia and other symptoms of DSRD.

Dr. Santoro, a neuroimmunologist by training and a leading expert in the clinical management of DSRD, has seen promising results in treating the disease with several immunomodulatory drugs, particularly in patients with diagnostic abnormalities indicating inflammation affecting the brain. .

“We saw patients with Down syndrome who hadn’t spoken or moved in two or three years started running down the hall and talking within weeks of treatment,” Santoro said. “It completely changed our understanding and treatment of DSRD.”

“This is an important study that will compare three different treatments acting through various mechanisms and will directly test the hypothesis that immune dysregulation underlies many cases of DSRD,” added Dr. Sannar.

“We are thrilled that GLOBAL’s advocacy work with our self-advocates, congressional champions, and the NIH has led to the creation of INCLUDE, the trans-NIH Down Syndrome Research Project,” said Michelle. Sie Whitten, President and CEO of GLOBAL. “INCLUDE-funded clinical trials specifically for people with Down syndrome, such as the DSRD study, have led to a renaissance in Down syndrome research and care. We are deeply grateful to our scientists, the NIH and to our incredible Down Syndrome community for investing in GLOBAL’s work to extend life and improve health outcomes.

To learn more about this exciting study, please email [email protected]

About the Linda Crnic Institute for Down Syndrome

The Linda Crnic Institute for Down Syndrome is one of the only academic research centers entirely dedicated to improving the lives of people with Down Syndrome through advanced biomedical research, ranging from basic science to investigative translational and clinical. Founded through the generous support and partnership of the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation, and the University of Colorado, the Crnic Institute supports a thriving Down syndrome research program involving more than 60 research teams at four Colorado campuses. Range forward. To learn more, visit or follow us on Facebook and Twitter @CrnicInstitute.

About the World Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest nonprofit organization in the United States working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to create the first Down Syndrome Research Institute that supports more than 400 scientists and more than 2,200 Down Syndrome patients in 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the leading advocacy organization in the United States for Down syndrome research and care. GLOBAL has over 120 Down Syndrome organizations worldwide and is part of a network of affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome and the University of Colorado Alzheimer’s and Cognition Center – all on campus Anschutz Medical Center.

GLOBAL’s widely distributed medical publications include Global guidelines for medical care for adults with Down syndrome, Prenatal and Newborn Information on Down Syndromeand the award-winning magazine Down Syndrome World MT. GLOBAL also hosts the Be Beautiful Be Yourself Fashion Show, the world’s largest fundraiser for Down syndrome. Visit and follow us on social media (Facebook & Twitter: @GDSFoundation, Instagram: @globaldownsyndrome)


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