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Question:

Our daughter is 30 and has slowly been withdrawing into herself over several years. Most notably her decrease in speaking. It often takes several prompts to get her to answer us. She uses her CPAP machine nightly with good success. It was after seeing some old home videos that we realized what a difference there was in her talking.

She recently had an incident with smearing her BM on floor, stool and walls. I was horrified! She has never really liked getting her hands dirty and this is so out of character for her. Our doctor ordered an Xray and it said she has mild scattered stools and ordered Miralax. I fear this is the start of more regression although her caregiver provider says not to worry.

We were working with University of Iowa and the doctor (Dr. Pixie Plummer) told us about DS Regression. We were thinking about starting medication for her but unfortunately the doctor is no longer there. We are at a loss as to where to turn. How does one determine if she is depressed? She never says she has pain or doesn’t feel well. She has a pat answer of “I am fine” even when we know she must not feel well.

Answer:

People with Down syndrome can regress for many reasons including mental and physical health problems. Considering that there are many possible causes for a person with Down syndrome to have a decline in skills or regression, a good history and physical exam is recommended as the initial step in the evaluation. Further assessment (labs, imaging/x-ray, and referrals to specialists) are determined by the findings in the history and physical exam. One of the causes of regression in a person with Down syndrome is depression. Depression, a mood disorder, is more common in people with Down syndrome than in others.

Depression is a mental health condition that is characterized by persistent feelings of sadness and/or a decreased interest in things that an individual previously enjoyed. We provide an overview of depression in people with Down syndrome in the article linked here.

Stool smearing

Stool smearing can occur for a variety of reasons including physical problems such as constipation or diarrhea. It can also be a form of communication of distress. It is a behavior that certainly gets others’ attention. Once the person has our attention, the challenge is trying to decipher what is being communicated. Some individuals will do stool smearing when they are depressed.

Providers

Various providers can assess and treat individuals who are regressing including primary care physicians or nurse practitioners, neurologists, psychiatrists, and/or others. A physician or other health care provider familiar with caring for people with Down syndrome, particularly those who have a decline in skills or regression and/or depression, can be helpful. Information about finding a mental health provider for a person with Down syndrome can be found at this link. If such a provider is not readily available, the individual’s primary physician can initiate the evaluation and treatment and refer as needed.

There are a variety of resources for providers who are unfamiliar (and even those who are familiar) with caring for people with Down syndrome who are declining and/or are depressed. The links below provide some information and recommended resources. In addition, the Down Syndrome Medical Interest Group (DSMIG-USA) has a work group on Adult Issues and Regression in which providers who care for people with Down syndrome who show symptoms of regression work together to improve our understanding. That is a good resource for any provider treating these individuals. Providers can join DSMIG-USA and learn with a variety of providers about heath care for people with Down syndrome including those with regression.

Additional Resources

  1. Presentation on Regression and Loss of Skills in Adolescents and Adults with Down Syndrome
  2. Collection of Resources on Decline in Skills and Regression
  3. Collection of Resources on Mental Health
  4. Mood Disorders (Chapter 17) in the 2nd edition of Mental Wellness in Adults with Down Syndrome: A Guide to Emotional and Behavioral Strengths and Challenges