Frequently asked questions

What is the relationship between Down syndrome and Alzheimer’s disease?

Individuals with Down syndrome have a 90% risk of developing Alzheimer’s disease during their lifetime, and this is related to the presence of the amyloid precursor protein gene, located on chromosome 21, which is triplicated in people with Down syndrome.

What are the cognitive symptoms of Alzheimer’s disease in Down syndrome?

In most cases, similar to the general population, the earliest symptom of Alzheimer’s disease is memory loss from recent events. As the disease progresses, other symptoms such as increased disorientation in time and space, greater difficulty finding the right words, worsening visuospatial functions, or increased difficulty solving everyday problems appear.

What are the psychological and behavioral symptoms of Alzheimer’s disease?

Alzheimer’s disease can cause changes in the personality and behavior of the affected person and can occur at any stage of the disease. The most common symptoms often include apathy, anxiety, sadness, irritability, and/or aggression, negativism, motor restlessness, and behavioral disinhibition, among others. These symptoms can cause significant stress for the primary caregiver and are typically the main reason for the patient’s institutionalization.

What is the pharmacological treatment for Alzheimer’s disease in individuals with Down syndrome?

Treatments for Alzheimer’s disease in patients with Down syndrome are similar to those available for the general population and are usually aimed at controlling the cognitive and behavioral symptoms of the disease. These may include cholinesterase inhibitors such as donepezil or rivastigmine, which aim to slow down the progression of cognitive deterioration, as well as other medications for the specific treatment of affective or behavioral disorders.

Besides Alzheimer’s disease, what other factors can influence cognitive abilities?

Before establishing a diagnosis of Alzheimer’s disease, it is essential to rule out other causes that may mask or contribute to cognitive decline, such as sensory deficits, metabolic disorders, sleep disturbances, mood disorders, epileptic seizures, the effect of certain medications, etc. People with Down syndrome may be especially sensitive to these changes, and it is crucial to make a good differential diagnosis to identify these issues, which are often treatable.

How is epilepsy associated with Alzheimer’s disease in Down syndrome?

Dementia due to Alzheimer’s disease in Down syndrome is associated with a high prevalence of epilepsy, characterized by the appearance of myoclonus and/or generalized tonic-clonic seizures. Generally, the onset of epilepsy after the age of 40 tends to be a marker of the onset of cognitive deterioration and worsens the prognosis of dementia.

What is dysphagia, and what is its relationship with Alzheimer’s disease?

Individuals with Down syndrome and Alzheimer’s disease may experience dysphagia, or difficulty swallowing food, drinks, or even their saliva, due to muscle hypotonia, cognitive impairment, and sensory alterations. Dysphagia can lead to severe complications, such as the aspiration of food into the lungs, which can result in pneumonia or other respiratory problems. A specialized medical team can assess and treat dysphagia through dietary recommendations, swallowing therapy, and strategies to improve safe eating and hydration.