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    Differential Diagnosis of Down Syndrome

    Differential Diagnosis of Down Syndrome

    Key features

    • As they age, individuals affected by Down syndrome have a greatly increased risk of developing a type of dementia that’s either the same as or very similar to Alzheimer’s disease.

      • Studies suggest that people with Down syndrome have a 90% lifetime risk of developing dementia. For most people with Down syndrome, this occurs in their 50s, although there is a broad age range.

    • Most adults with Down syndrome will not self-report concerns about memory. Diagnosing dementia in a person with Down syndrome can be difficult because of the challenges involved in assessing thinking-skill changes in those with intellectual disabilities. Yet, recognition of adult cognitive change is important for providing appropriate services and support for individuals with Down syndrome and their caregivers. 

    • Experts recommend the following principles as key to person-centered diagnosis in those with Down syndrome:

      • Document baseline adult function by age 35. Ongoing evaluation of intellectual, behavioral and social function is important for everyone with Down syndrome. By age 35, each individual's medical record should ideally include detailed information on his or her adult abilities. The person with Down syndrome, family members, and other reliable individuals are helpful sources for this information.

      • Watch for changes in day-to-day function. Reduced enthusiasm for daily activities, loss of interest in social interactions, and changes in personality and behavior are often early signs of an underlying decline in thinking skills.

      • Consider professional assessment by a dementia expert. A variety of cognitive tests have been used to evaluate thinking changes in adults with Down syndrome. However, experts caution that cognitive tests should never be used as the only benchmark to diagnose dementia. Typically, Alzheimer's and other dementias are diagnosed using a variety of approaches and tools, including review of the person’s medical history, physical exam, lab testing, and, in some cases, brain imaging. 

      • Rule out other causes of symptoms. It’s important to rule out other medical conditions commonly associated with Down syndrome as the cause of changes in thinking and function, including thyroid problems, depression, chronic ear and sinus infections, vision loss, and sleep apnea.  

    Treatment

    The U.S. Food and Drug Administration has approved one treatment that may address the underlying biology of Alzheimer's and may be appropriate for people living in the early stages of the disease. This treatment has not been tested in people with Down syndrome. Additionally, availability of this drug is limited. Other medications may help lessen symptoms, such as memory loss and confusion. These drugs have been tested in people with Down syndrome in small studies. 

    Experts urge more research and clinical studies to identify effective treatments for dementia in those with Down syndrome. Because there may be differences in the way people with Down syndrome process medications, experts advise caution about using any drug that has not specifically been shown to be safe and effective in this group.  

    Pathology

    Scientists think that the increased risk of dementia — like other health issues associated with Down syndrome — results from the extra genes present. One of the genes on chromosome 21 of interest in the Down syndrome/Alzheimer’s connection codes for amyloid precursor protein (APP). Scientists don’t yet know APP’s function, but they’ve learned that day-to-day brain activity involves continuous “processing” of APP into shorter pieces. One of the brain’s APP processing pathways produces beta-amyloid, a fragment that’s the chief component of plaques and a prime suspect in Alzheimer’s-related brain changes. Having an extra copy of the APP gene increases production of beta-amyloid, and this may contribute to the chain of biological events leading to Alzheimer’s-related brain changes.  

    For your patients and families: Down Syndrome and Alzheimer's Disease

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