Disorder affecting small but growing number of adolescents, young adults

By Terri McLean

For most of her young life, Rebecca, who has Down syndrome, had a bubbly personality that endeared her to everyone. She made friends easily and spent time with them as often as she could. She was also very independent and exhibited proficiency in many daily living skills

But once she finished high school, Rebecca suddenly became withdrawn and preferred being alone. She also no longer picked out her own clothes or took pride in her appearance She even developed repetitive, ritualistic behaviors.

Rebecca – not a real person – is an example of someone experiencing regression, sometimes called Down syndrome regression disorder or Down syndrome disintegrative disorder. Regression is the unusual loss of previously acquired developmental skills. It can occur quickly or over weeks to months

Though relatively rare, regression is receiving increased attention in the Down syndrome community. Recently, the National Institute of Health announced funding for a study that will investigate the disorder affecting a small but growing percentage of adolescents and young adults with Down syndrome, according to a Global Down Syndrome Foundation press release The study will investigate potential causes and look at promising therapeutic approaches. (Continued on page 10)

Ac g y est Group-USA* (DSMIG-USA), a group of health professionals that promote the health care and wellness of individuals with Down syndrome across the lifespan, it is common for people with Down syndrome to experience some of the behaviors listed below. But if you have concerns or notice these behaviors for an extended period, contact your medical professional.

Social withdrawal from friends, family

Loss of language or diminished language - decreased speaking, loss of certain words, sentence structure changes, “baby talk,” speaking in a whisper)

Loss of previously acquired developmental milestones or abilities

Loss of independence in activities or need for significant assistance - can no longer toilet independently, feed self, dress self, or bathe self

Development of autism-like features that were not previously present (onset over weeks, not chronic) –decreased eye contact, repeating what other people say or repeating lines from movies/television, decreased showing of empathy or emotions toward others, anger or frustration, repetitive hand or body movements, lack of interest in others

Changes in motor activity – stiffness, slow movements, freezing, tics and/or extra movement that are not purposeful

Changes in eating patterns (e.g., not wanting to eat or extreme slowness with eating)

Insomnia and difficulty sleeping

Compulsive and/or obsessive behaviors not previously present

Facial grimacing

Bizarre thought content or experiences (e.g., hallucinations or altered awareness)

Inappropriate mood (e g , crying for no reason)

Aggressiveness toward self or others

Increased self-talk

Center for Intellectual and Developmental Disabilities in Cincinnati.

It’s also important to note that people with regression often express these symptoms in less than three months’ time, instead of gradually. If you’re loved one is experiencing any of these symptoms, evaluation by an expert is recommended, DSMIG says.

“Individuals and families are encouraged to create a baseline and update this yearly or as best fits the needs. A baseline is created to be able to capture one's current physical, mental and emotional health By creating a baseline one can better distinguish the amount of time and areas in which changes occur. This can lead to a well-informed conversation with your healthcare practitioner,” said Christy Gregg, program manager at the Timothy Freeman, MD, Center for Intellectual and Developmental Disabilities.

Causes of regression

There are several things that might cause regression: a medical condition, such as obstructive sleep apnea and hypothyroidism; a psychiatric/psychological condition, such as depression, anxiety and autism spectrum disorder; and a neurological condition, such as seizures, stroke and mitochondrial disease.

Within the psychiatric/psychological realm lies stress, which might be brought on by a variety of “triggers.” According to the Massachusetts General Down Syndrome Program, these may include death of a loved one or pet, siblings moving out of the family home, moving to a new home, puberty, and changes in school or work. Importantly, no two cases of regression are alike

the Timothy Freeman,

Finding the likely cause of regression in a person with Down syndrome is extremely important because the therapies that can be offered vary widely.

Are there tests available?

Because there are many potential causes of regression in people with Down syndrome, the DSMIGUSA recommends a broad work-up of tests based on an individual’s symptoms. Testing may (but not always) include blood work, an MRI or CT scan, an EEG, a sleep study, a spinal tap, and sometimes genetic or metabolic testing. Again, testing should be based on an individual’s symptoms and determining the most likely cause or regression.

What about treatments?

There is no singular treatment for people with regression. However, once a cause is identified, doctors can work together to come up with the best treatment options available.

*Regression in Persons with Down Syndrome: Current Consensus Update for Families; primary member author: Jonathan Santoro, M D

Could it be Alzheimer’s disease?

Often, families are told that their loved one with Down syndrome and regression has “early onset Alzheimer’s Disease.” For a person younger than 40 years old, this is very rare. Other causes should be ruled out prior to an Alzheimer’s disease diagnosis.

DSMIG-USA