Down Syndrome Regression Disorder

What is Down syndrome regression disorder (DSRD)?

Down syndrome regression disorder (DSRD) is a rare but serious disorder that affects some people with Down syndrome in later childhood or in the early stages of adulthood. It involves regression and is often paired with significant changes in personality, sleep, mood, hallucinations or speed of movements. Clinical and diagnostic criteria exist for DSRD, and often care teams must rule out other conditions before they can diagnose DSRD.  

What is a regression?

A regression is the loss of prior developmental, cognitive or self-care skills. The skills lost can include speech, social interaction, eating, maintaining hygiene or performing daily routines independently. Some people with Down syndrome may have a regression early in life related to autism or late in life related to Alzheimer’s disease. Having a regression does not mean it must be from Down syndrome regression disorder.  

What causes Down syndrome regression disorder?

The exact cause of DSRD is unknown, but experts think it may be different for different people. For some people, it could be related to life stressors or psychiatric diagnoses; for others, inflammation in the body or the brain could cause symptoms.

Who gets Down syndrome regression disorder?

While DSRD can affect people with Down syndrome, most people with Down syndrome will not develop this condition. The symptoms of DSRD appear most often in adolescents and young adults, although DSRD may also occur in other ages.

What are the signs and symptoms of Down syndrome regression disorder?

Families may notice a sudden occurrence of symptoms or gradual changes over a few months, often without a clear explanation. This may appear as:

• New slowness of movements
• Social withdrawal
• Decreased speech or communication
• Abnormal repetitive movements
• Significant sleep changes
• Confusion
• Difficulty with feeding, bathing or toileting
• Hallucinations
• New or significantly worsened anxiety, depression or obsessions and compulsions

How do we diagnose Down syndrome regression disorder? 

Our doctors at the Down Syndrome Regression Disorder Clinic diagnose DSRD through multidisciplinary evaluation, diagnostic testing and standard-of-care guidelines. This includes assessing the number, type and severity of symptoms that are occurring. Other diseases may also cause one or more of the above symptoms and mimic DSRD — such as autism spectrum disorder, psychiatric disease, thyroid disease, arthritis, hearing loss, obstructive sleep apnea or celiac disease. It is important to evaluate and exclude these conditions as the cause of symptoms, as they may have different treatments than those used for DSRD.

What tests are used to diagnose Down syndrome regression disorder? 

Our team will use some of the following common tests to diagnose DSRD.

• History and physical exam: Our team will review the presence and timing of symptoms and look for signs of arthritis or other autoimmune diseases.
• Blood testing: We may use a set of blood tests to look for signs of inflammation or untreated autoimmune, thyroid or other conditions.
• Magnetic resonance imaging (MRI) of the brain: This test looks for signs of inflammation, strokes or abnormal blood vessels in the brain that may be causing symptoms.
• Electroencephalogram (EEG): This tests for the presence of seizures, including unrecognized seizures during sleep, to help find treatment options.
• Lumbar puncture and spinal fluid analysis: Our team performs this set of tests to look for signs of autoimmune encephalitis and brain inflammation.

How do we treat Down syndrome regression disorder? 

DSRD treatment depends on the most likely underlying cause, which may be different from person to person. After a comprehensive evaluation, doctors may recommend specific medical disease treatments, psychiatric medication management, therapies, physical or mental activities or immunotherapy treatments.

Why choose us for Down syndrome regression disorder care? 

Children's Hospital Colorado offers one of the few multidisciplinary clinics in the United States for evaluating DSRD. Our team has extensive experience evaluating and treating this complex disorder. Through research and leading clinical trials, our specialists are working to answer key questions that may help identify the underlying causes of the disease and the best treatment option for an individual. Appointments with individual specialists who work in the Down Syndrome Regression Disorder Clinic (psychiatry, psychology, neurodevelopmental disabilities and neuroimmunology) may also be available if needed.

Helpful resources

• For information and resources on Down syndrome, the Anna and John J. Sie Center for Down Syndrome
• For research studies related to DSRD at the University of Colorado, please visit the Linda Crnic Institute for Down Syndrome Research.
• National Down Syndrome Society resource page and symptom checklist for DSRD