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Down Syndrome Regression Disorder: Two varied experiences

Down Syndrome Regression Disorder (DSRD), sometimes also referred to as just regression, is a disorder that occurs in some adolescents and young adults with Down syndrome. It is a serious disorder wherein the individual loses skills they had previously learned such as daily living, language, movement, or social skills. Although documented since the 1940s, criteria and treatment options have only become available in the last decade and there is still much that we do not know about DSRD.

As of today, DSRD is diagnosed through exclusion. A diagnosis of exclusion (DOE) is reached when all other possible diagnoses have been ruled out. The process can be agonizingly slow, but it is important to rule out all other possible diagnoses to ensure the correct treatment options are given for the best possible outcome. DSRD symptoms can mimic so many other disorders. This is also why there is now a DSRD symptoms checklist for medical professionals to use to help identify symptom clusters.

Down Syndrome Regression Disorder Case #1: Sara

Sara was a seemingly normal 17-year-old girl.  She was attending school and had a social life. However, in August of 2023, her mom Betsy noticed that she developed skin irritation, and her mobility had become altered; it was hard for her to get around. Things that came naturally to her now seemed confusing, like opening the car door or brushing her teeth. She became extremely withdrawn and started speaking to an imaginary friend.

Betsy, determined to understand what was happening, sought the assistance of Sara’s healthcare providers but was disappointed in their inability to give a direct answer. She sought a second opinion, where she had better luck. Eventually, Sara was diagnosed with Down Syndrome Regression Disorder or DSRD, but not before undergoing a multitude of tests including lumbar puncture, brain magnetic resonance imaging (MRI), bloodwork, urine studies, and an electroencephalogram (EEG). These tests were performed in a medical setting, requiring support from her family and the nursing staff. To keep Sara comfortable, she was given medication to allow her to sleep through some of these tests and also received anesthesia to get through the more invasive ones.

After months of Sara’s symptoms persisting, she began treatment with Intravenous immunoglobulin therapy or IVIG. Sara’s family noticed some improvement after receiving IVIG, but sadly, the effects didn’t seem to last very long. She underwent six treatments in total, one treatment a month for six months.  The treatment did not have the hoped-for effect. It was then that her neurologist decided that the impact of the infusions was not beneficial enough to continue. Sara was taken off of the IVIG treatment.  Instead, she started a medication called Lorazepam (an anxiolytic), and Sertraline (a Selective Serotonin Reuptake Inhibitor) meant to decrease her catatonia and improve her ability to move while also positively impacting her mood.

Betsy thinks she has seen some improvement with the addition of the medications, but she can’t be sure.  The hardest thing for Sara’s mom, she says, is that “I can see that Sara is in there, and she just can’t get out, it’s heartbreaking.”

A woman in a black dress poses with her daughter who is in a glittery dress.

Down Syndrome Regression Disorder Case #2: Morgan

A mother and daughter smile at the camera together.

In 2018, Morgan was an 18-year-old with a whole lot of love to give. She was living with her family, going to school, engaging in social activities, and playing pranks on unsuspecting people. At the end of that year, Morgan’s mom Dawn noticed that she started to act “off.”

Dawn brought Morgan to her Primary Care Physician (PCP) who thought she had something called Tardive Dyskinesia; a movement disorder associated with certain medications.  She was tapered off of the suspected medication, but her symptoms just worsened.  Morgan’s symptoms began with an eerie laugh that had a “cackling quality,” and she began rocking back and forth in her seat during car rides.  She also developed difficulty with movement, later determined to be catatonia, and would at times seem “oblivious to the world around her.”  Other symptoms she displayed were a lack of sensation of pain, and lastly, she completely stopped speaking.  About six months after her symptoms began, she had what seemed like a seizure. Morgan was referred to neurology for an evaluation and underwent a number of tests, but no formal diagnosis was given. It wasn’t until her mom stumbled into an online forum about DSRD that a lightbulb went off.  She immediately began researching DSRD, its treatment, and where they needed to go for evaluation.

In 2022, four years after development of symptoms, she underwent the same litany of tests that Sara endured.  Her neurologist arranged for her to start IVIG infusions shortly thereafter, however her family and her medical providers were concerned about efficacy.  Because Morgan’s symptoms had persisted for so long, it wasn’t clear if IVIG would be effective.  Her first infusion was relatively easy, she tolerated the medication well. The second infusion was more difficult, she spiked a fever and felt completely exhausted and worn down.

For the first six months she had a treatment monthly, and for the last eighteen months, she has had treatments every three weeks.  Slowly, Morgan has begun to regain function.   She is now able to engage socially, and she has rekindled friendships that had lagged while she was in full-blown regression.  The fear that the treatment wouldn’t be effective seems to have been unwarranted. Just as her speech was the last thing to be affected when she first deteriorated, it was also the last thing to return. The first words she spoke were to her mother Dawn. She said, “I love you.”

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