IVIG Shows Potential to Reverse Symptoms of Down Syndrome Regression Disorder

Treatment with intravenous immunoglobulin (IVIG) shows promise for children and young adults with Down syndrome regression disorder (DSRD), according to researchers at Children’s Hospital Los Angeles (CHLA).

DSRD is a condition in which functioning children and young adults with Down syndrome cease to eat, talk, exercise, and perform normal daily functions, such as getting dressed and going to the bathroom.

According to CHLA Director of Neuroimmunology Jonathan Santoro, IVIG has not been used for DSRD in the past; however, IVIG in combination with psychotropic medication showed promising results in 80% of approximately 120 patients in the CHLA program, which is the largest of its kind in the country, according to a press release.

Santoro is the lead for a multi-center study on IVIG use in this patient population, which is expected to go to clinical trial in 2022, pending approval by the National Institutes of Health.

IVIG is comprised of purified polyclonal immunoglobulin G antibodies administered to manage several immunodeficiencies and other autoimmune, infectious, and inflammatory conditions.

The goal of IVIG administration is to normalize how a compromised immune system functions. Use of IVIG replacement therapy has increased as a treatment of choice for humoral primary immunodeficiencies. IVIG has also been found beneficial in organ-specific diseases of the skin and nervous system, in particular.

Down syndrome occurs in approximately 1 in 800 US births and less than 1% of this patient population develops DSRD, which typically afflicts teen females and young adult males, according to CHLA. DSRD can cause active young people with independent living skills to lose function, including a lack of talking and movement, as well as causing weight gain, anorexia, incontinence, hallucinations, and inability to recognize family, according to CHLA.

Santoro said that because there is an inflammatory component to DSRD, it may potentially be reversible with immunotherapy.

“Traditionally, it’s been thought of as a psychiatric condition, and neurologists weren’t even involved in the care of children with these symptoms,” Santoro said in a press release. “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.”

In autoimmune encephalitis, the body’s immune system attacks the brain, causing several neuropsychiatric symptoms.

Santoro sought to develop an advanced neurodiagnostic workup loosely based on the evaluation of autoimmune encephalitis in children, including MRI, EEG, and lumbar puncture. The CHLA investigators found that in approximately 15% to 20% of this patient population, an inflammatory component of DSRD is rapidly reversible with immunotherapy.

Santoro added that this unique condition may be related to a predisposition toward autoimmunity in all individuals with Down syndrome.

Reference

Intravenous Immunoglobin Therapy Shows Promise Treating Children with Down Syndrome Regression Disorder. Children’s Hospital Los Angeles. News release. Accessed April 14, 2022. https://www.newswise.com/articles/intravenous-immunoglobin-therapy-shows-promise-treating-children-with-down-syndrome-regression-disorder