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News — A potential breakthrough medical treatment showing promise for children and young adults afflicted with is being developed at Children’s Hospital Los Angeles.

Down Syndrome Regression Disorder occurs when functioning children and young adults with Down syndrome stop eating, talking, exercising as well as ceasing normal day to day functions like getting dressed and going to the bathroom.

Children’s Hospital Los Angeles neurologist Jonathan Santoro, a neuroimmunologist in the hospital’s Neurological Institute, is in the early stages developing an experimental treatment – called intravenous immunoglobulin (IVIg), which has not been used for this condition before but is showing promising results, in combination with psychotropic medication - in 80 percent of his more than 120 patients in the CHLA program – the largest program of its kind in the country.

 Santoro is leading a multi-center study on the therapy which is expected to go to clinical trial in 2022, pending NIH approval. 

World Down Syndrome Day is March 21. Dr. Santoro is available for an interview.

Down syndrome occurs in about 1 in 800 U.S. births and less than 1 percent of the Down syndrome population is afflicted with DSRD – which hits teen females and young adult males seemingly overnight, taking them from being active young people – (school, friends, independent living skills like dressing and going to the bathroom, and talking) to losing function – no talking, no movement, weight gain, anorexia, incontinence, hallucinating, inability to recognize family. It is a condition that is devastating to patients and their families since there is no cure.

 It was Santoro’s expertise in both immunology and neurology that led to this breakthrough treatment which is now being implemented by teams at several hospitals across the U.S.  Overall, Santoro says his findings – that there’s an inflammatory component to DSRD that is rapidly reversible with immunotherapy – is showing promise.

 “Traditionally, it’s been thought of as a psychiatric condition, and neurologists weren’t even involved in the care of children with these symptoms,” says Santoro, Director of Neuroimmunology at Children’s Hospital Los Angeles, where the treatment is being delivered. “When our team started evaluating patients with DSRD, we wondered: If this patient didn’t have Down syndrome, what would we be testing for? And our answer was autoimmune encephalitis.”

Autoimmune encephalitis occurs when the body’s immune system attacks healthy brain, leading to a variety of neuropsychiatric symptoms and seizure. Santoro created an advanced neurodiagnostic workup loosely based on the evaluation of autoimmune encephalitis in children which included MRI, EEG and lumbar puncture. His team found that in about 15% to 20% of these patients, there’s an inflammatory component to DSRD that is rapidly reversible with immunotherapy. While experts used the construct of autoimmune encephalitis to perform the highest yield testing, Santoro believes that this condition is unique and may be related to a predisposition toward autoimmunity that all people with Down syndrome have.