Understanding Alzheimer’s in Down Syndrome: Early Signs, Diagnosis, and Caregiver Insights with Dr. Beau Ances

The podcast “IDD Health Matters” hosted by Dr. Craig Escude features an episode with Dr. Beau Ances, an adult neurologist specializing in adults with Down syndrome, particularly focusing on the early detection of Alzheimer’s disease in this population. Dr. Ances explains that individuals with Down syndrome are at a higher risk of developing Alzheimer’s disease at a younger age due to having three copies of chromosome 21, which leads to an overproduction of amyloid precursor protein, a hallmark of Alzheimer’s.

Key points discussed in the episode include:

• Early Signs of Alzheimer’s in Down Syndrome: Dr. Ances highlights early signs such as social withdrawal, forgetfulness, changes in sleep patterns, increased falls, and the onset of seizures as indicators of Alzheimer’s in individuals with Down syndrome. He notes that seizures, which may occur early in life and then reappear as cognitive decline sets in, are a significant sign of the disease’s progression.

• Challenges in Diagnosis: The conversation also covers the difficulty in diagnosing Alzheimer’s in individuals with Down syndrome due to pre-existing communication challenges and varying baseline cognitive abilities. Dr. Ances emphasizes the importance of observing changes from an individual’s baseline behavior and abilities as a key diagnostic tool.

• Caregiver Observations: The role of caregivers in monitoring and reporting changes in behavior, skills, and abilities is crucial for early detection and diagnosis. Dr. Ances shares an example of how a patient’s progression of Alzheimer’s was observed through changes in her ability to color over the years, illustrating the disease’s impact on her cognitive and motor skills.

• Importance of Baseline Assessments: Establishing a baseline of cognitive and functional abilities in individuals with Down syndrome is vital for early detection of Alzheimer’s. Dr. Ances advises getting baseline assessments in the 20s or 30s to track any decline or changes over time.

• Advancements in Alzheimer’s Diagnosis: The episode touches on new diagnostic methods for Alzheimer’s, including PET imaging and spinal taps, which can indicate the presence of Alzheimer’s pathology before symptoms appear. These advancements offer hope for earlier and more accurate diagnosis, not only in the general population but also specifically in individuals with Down syndrome.

Dr. Ances’s insights provide valuable information on the intersection of Down syndrome and Alzheimer’s disease, highlighting the unique challenges and considerations in diagnosing and managing Alzheimer’s in this population. The discussion underscores the importance of early detection, caregiver involvement, and the need for tailored diagnostic approaches to improve outcomes for individuals with Down syndrome facing the risk of Alzheimer’s disease.