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Down Syndrome And Alzheimer’s

Dementia Scale And Questionnaire

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The diagnosis of dementia still is based primarily on clinical history and examination. Generally, the diagnostic methods used for testing persons without developmental disabilities, are unreliable for diagnosing dementia in persons with developmental disabilities. Additionally, standard neuropsychological tests cannot evaluate many people with developmental disabilities.

There is no universally accepted protocol for diagnosing individuals with intellectual disabilities. Guidelines for diagnosing dementia, with around 90% accuracy in individuals without developmental disabilities, have been published by different associations.

An evidence-based guideline released by The Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup recommends screening for Alzheimer-type dementia from 40 years of age. Other recommendations include managing the risk factors of cardiovascular disease and stroke prevention, obesity screening, and secondary causes of osteoporosis evaluation. Although this guideline provides guidance to adults with DS, further research and studies are needed for high-quality evidence.

Some tools that have proved to be very useful are the Dementia Scale for Down Syndrome , which was specifically designed to be used in individuals with DS, and the Dementia Questionnaire for Mentally Retarded Persons.

Functional Assessment Tool For Alzheimer’s Disease

This is a summary of scoring for the Alzheimer’s Functional Assessment Tool. This tool can be used to document the progression of the symptoms, and it can also be helpful to evaluate the usefulness of any drug treatment or behavioral intervention. It is not intended to make the diagnosis of Alzheimer’s disease.

Toileting

  • Can use the bathroom in familiar and unfamiliar environments independently
  • Goes to the toilet independently or asks for assistance may need reminders to use toilet paper and wash hands
  • Has occasional toileting accidents needs verbal reminders
  • Needs assistance going to the bathroom on a schedule remains continent 90% of the time
  • Needs assistance going to the bathroom on a schedule remains continent 50% of the time or less
  • No bowel or bladder control may require frequent changing or special clothing
  • Dining

  • Can prepare simple food , can set table and clean up after a meal, uses knife and fork to cut food, may or may not use adaptive equipment to eat independently
  • Can use fork and spoon to eat independently but needs food to be cut
  • Eats independently with the help of adaptive equipment
  • Can use fork and spoon to eat independently but may need occasional prompts to start or continue eating, may finger feed, needs food to be cut
  • Needs physical assistance to complete the meal
  • Develops swallowing problems, needs change in consistency of food or thick drinks
  • Completely dependent on assistance, may need specialized feeding program
  • Walking/motor

    What Is Down Syndrome

    Down syndrome is a genetic disorder caused when, due to a biological error at the time of conception, a person has 3 copies of chromosome 21 in every cell body instead of the usual pair, so upsetting the gene balance. This extra gene material causes a collection of characteristics which can result in some degree of developmental delay and some common physical traits.

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    How The Medical System Is Failing People With Down Syndrome And Alzheimers Disease

    Patient Affected By Down’s Syndrome.

    Over just the past few decades, the life expectancy of people with Down Syndrome has increased from less than 30 years to nearly 60. But for many, that remarkable advancement comes at a high price. As they live longer, up to ninety percent of people with DS will have Alzheimers Disease. It is, in fact, the leading cause of death among the 200,000 or more people in the US and the 400,000 people in Europe with DS.

    Yet, the challenges of Alzheimers in this population are largely being ignored by the health care and social support systems in the US. Physicians dont know how to diagnose it. Families get little assistance or advice in how to care for loved ones with Alzheimers. Few residential care settings will accept or are prepared to care for people with DS. And many parents of children with DS seem unwilling to even acknowledge the high incidence of Alzheimers and thus do little to prepare for it.

    Just imagine: A severe disease strikes 90 percent of a population and most of us dont even know it. And the medical establishment seems largely disinterested.

    DS occurs when a person has an extra copy of Chromosome 21. By middle-age, nearly everyone with Downs shows signs of Alzheimers Disease, including telltale plaques and tangles on the brain. They also began to exhibit symptoms such as memory loss and other cognitive impairment.

    So do the rest of us.

    What Is The Link Between Down Syndrome And Alzheimer’s Disease

    Alzheimers Disease in People with Down Syndrome

    The reason Alzheimer’s disease is more common in people with Down syndrome is not completely known. Alzheimer’s disease is associated with increased production of a compound called amyloid-beta in the brain. Amyloid-beta accumulates and causes the loss of brain cells called neurons. Exactly how neuron loss occurs is not well understood. The higher risk for Alzheimer’s disease in people with Down syndrome may be related to the extra copy of chromosome 21 because it leads to increased production of amyloid-beta.

    The age when symptoms of Alzheimer’s disease actually develop may be related to a person’s mental capacity or some anatomic characteristics of the brain. That means people with greater brain weight, more brain cells , and more education may not have symptoms of Alzheimer’s disease as early as people with less cognitive reserve. People with Down syndrome may develop symptoms of Alzheimer’s disease earlier in life than other people because of their increased production of amyloid-beta and their smaller cognitive reserve.

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    Down Syndrome And Alzheimer’s Research

    Scientists are working hard to understand why some people with Down syndrome develop dementia while others do not. They want to know how Alzheimers disease begins and progresses so they can develop drugs or other treatments that can stop, delay, or even prevent the disease process. They are also hopeful that research on Alzheimer’s and Down syndrome will not only help those with both conditions, but also may lead to effective treatments for all people with Alzheimer’s. Research in this area includes:

    • Basic studies to improve understanding of the genetic and biological causes of brain abnormalities that lead to Alzheimers
    • Observational research to measure cognitive changes in people over time
    • Studies of biomarkers , brain scans, and other tests that may help diagnose Alzheimers even before symptoms appear and show brain changes as people with Down syndrome age
    • Clinical trials to test treatments for dementia in adults with Down syndrome

    The Alzheimer’s Biomarkers Consortium – Down Syndrome is a National Institutes of Health -funded research initiative to find biomarkers that indicate Alzheimer’s disease is developing or progressing, and to track the Alzheimer’s process in people with Down syndrome.

    What Kind Of Treatment Is Available

    Currently there are no approved pharmaceutical drugs used specifically to treat dementia associated with Down syndrome. In the United Kingdom, cholinesterase inhibitors , are approved to treat dementia in people with Down syndrome. However, there isn’t enough evidence to reach a definitive conclusion about their effectiveness.

    An international clinical study has shown no benefit for the Alzheimer’s drug Memantine in adults with Down syndrome. More research and clinical studies are required to identify effective treatments for dementia in those with Down syndrome.

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    Alzheimer’s Disease In People With Down Syndrome

    Many but not all people with Down syndrome develop Alzheimers disease when they get older.

    People with Down syndrome are born with an extra copy of chromosome 21, which carries a gene that produces a specific protein called amyloid precursor protein . Too much APP protein leads to a buildup of protein clumps calledbeta-amyloid plaquesin the brain. The presence of beta-amyloid plaques is one of the hallmarks of Alzheimer’s disease.

    This type of Alzheimers in people with Down syndrome is not passed down genetically from a parent to a child.

    Biomarkers Potentially Useful For Early Diagnosis

    Down Syndrome and Alzheimer’s Disease – On Our Mind

    Biomarkers, physical signs, or lab tests consistently associated with a particular disease help confirm the diagnosis, monitor the condition, evaluate treatment efficacy, and facilitate early intervention to delay disease progression.

    Unfortunately, at present, there are no reliable biomarkers helpful in diagnosing AD and DS, nor are there good predictors of disease progression or treatment response. However, potential biomarkers have been and continue to be investigated.

    Tau protein and beta-amyloid peptide levels in CSF might help differentiate AD from other dementias. Low Abeta42 and high tau protein levels might be associated with a higher risk of AD.

    Abeta42, total tau protein, and tau phosphorylated at position threonine 181 levels in CSF have sensitivity and specificity enough to allow AD identification compared with cognitively normal elderly persons. In addition, these biomarkers can recognize patients with mild cognitive impairment who progressed to AD and those who did not. However, repeated lumbar punctures to monitor the improvement of a potential treatment limited the utility of these markers as front-line screeners.

    Blood biomarkers might be more efficient and cost-effective than CSF biomarkers or radiological tests. However, there are several difficulties in finding the more appropriate ones. Although many biomarkers have minor diagnostic potential, plasma NfL is minimally invasive and cost-effective it can be used for diagnosing AD in DS.

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    Facts On Alzheimer’s Disease In Those With Down Syndrome

    • Alzheimer’s disease is the most common form of dementia. The disease is progressive, and the brain degenerates. Alzheimer’s disease is strongly associated with old age. However, it should not be considered a normal part of aging.
    • Down syndrome is a genetic disorder in which a person has extra genes because of extra chromosome 21 material. The syndrome causes delays and limitations in physical and intellectual development. The extra chromosome material can be inherited from either parent. Common characteristics of the syndrome include:
    • Low muscle tone
    • Flat face
    • Eye openings that slant downward and inward
    • A single crease across the center of the palm
    • Smaller than normal size
    • Delay of both physical and intellectual development
  • People with Down syndrome, also called trisomy 21, develop a syndrome of dementia that has the same characteristics as Alzheimer’s disease that occurs in individuals without Down syndrome. The only difference is that Alzheimer’s disease occurs much earlier in people with Down syndrome patients with Down syndrome begin to have symptoms in their late 40s or early 50s.
  • Most people with Down syndrome develop the brain changes associated with Alzheimer’s disease. However, Alzheimer’s disease is not more common in individuals with intellectual disabilities from causes other than Down syndrome.
  • How Is It Diagnosed

    Diagnosing dementia in a person with Down syndrome can be difficult because of the challenges involved in assessing changes in cognitive skills in people with intellectual disabilities. The following guidelines have been recommended:

    • Document baseline adult function by age 35. Ideally, each individual’s medical record should include detailed information about adult abilities and intellectual, social and behavioral functions.
    • Watch for changes in day-to-day function. Reduced enthusiasm for daily activities, lack of interest in social interactions and changes in personality and behavior are often early signs.
    • Consider professional assessment by a dementia expert. A variety of cognitive tests have been used to evaluate thinking changes in adults with Down syndrome. Keep in mind that cognitive tests should never be used as the only benchmark to diagnose dementia in a person with Down syndrome.
    • Rule out other causes of symptoms. Thyroid conditions, depression, chronic ear and sinus infections and sleep apnea can cause changes in a person’s thinking and functioning.

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    What Do We Already Know

    People with Down’s syndrome have an increased risk of developing Alzheimer’s disease, usually at a relatively young age. Most people with Down’s syndrome will have the Alzheimer’s hallmark clumps of amyloid and tau proteins in their brain by the age of 40, and two thirds will have Alzheimer’s by the age of 60.

    Our genes are arranged on structures called chromosomes and a single chromosome contains several hundred different genes. Most people have 23 pairs of chromosomes but Down’s syndrome is caused by having an extra copy of a particular chromosome, called chromosome 21. One of the known genetic links to younger onset dementia is the amyloid precursor protein gene, which is found on chromosome 21. This is thought to be the reason why people with Down’s syndrome have an increased risk of Alzheimer’s.

    However, the research team believes that there may be other genes present on this chromosome that also influence a person’s risk of developing Alzheimer’s disease. These genes are likely to have an effect on the amyloid precursor protein, causing it to form the toxic amyloid clumps associated with the condition.

    How Is The Diagnosis Of Alzheimers Disease Made In A Person With Down Syndrome

    Down Syndrome and Dementia

    The diagnosis of Alzheimers disease can be difficult in a person with Down syndrome because of the intellectual disability already present. The knowledge of close family members is especially important and useful information for the doctor. A close family member knows the baseline capabilities the intellectual and functional abilities of their loved one with Down syndrome and are usually the first person to notice changes. It is also helpful to find a memory specialist who is trained in diagnosing people who have intellectual disabilities.

    The doctor will assess the patient using a variety of thinking tests adapted for a person with Down syndrome as well as perform tests and lab work to rule out other causes of the symptoms.

    Experts recommend that the close family member of the person with Down syndrome do the following to assist in a possible diagnosis:

    • Get a full intellectual, social, and behavior assessment of your loved one by the age of 35. Make sure the results of the assessment are documented in his or her medical record. This assessment will be useful as the baseline to which future changes will be compared.
    • Keep a journal of any changes in the day-to-day behavior of your loved one with Down syndrome .

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    Why Is This Important

    This study is helping researchers to understand more about the build-up of amyloid and tau two key proteins that go awry in Alzheimers.

    They will share this new knowledge about when these proteins start to build up in the brain and the impact this has on brain function within the research community, adding to the growing research in this area.

    As people with Downs syndrome are at such an increased risk of developing Alzheimers, they provide a unique insight into the disease and, in future, will be an important group of people to trial new treatment and prevention approaches.

    However, before that can take place, researchers need to better understand how Alzheimers develops in people with Downs syndrome, and highlight the best window of opportunity for testing new treatments.

    New medicines are entering development that aim to attack the damaging processes underlying Alzheimers, but they need to be tested in the right people at the right time to have the best chance of success getting this timing right is absolutely crucial for bringing new treatments to the clinic.

    Is It Genetic Can It Be Passed On To Family Members

    It is believed that the extra chromosome 21 is responsible for the symptoms of dementia in individuals with Down syndrome. One of the chromosome 21 genes in Down syndrome codes for amyloid precursor protein . The exact function of APP is not known, but it is believed 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, the chief component of plaques and a prime suspect in Alzheimers disease. Having an extra copy of the APP gene may increase the production of beta-amyloid and trigger the chain of biological events leading to Alzheimer’s disease.

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    Seeking A Memory Evaluation

    Look for a memory specialist . Ideally, the specialist would have experience assessing individuals with intellectual disabilities. Assessments should be comprehensive and adapted appropriately for each patients baseline intellectual disability. A thorough assessment should take into account all other potential contributing factors that could also account for, or contribute to, the reported changes.

    What Does This Project Involve

    Defeat Dementia in Down’s Syndrome

    The PhD student will use cells in the lab that have an extra copy of chromosome 21 to understand the effects of the chromosome at the molecular level. The student will add amyloid precursor protein to these cells to understand how the extra chromosome affects this protein. The study will particularly focus on a component of the cell called endosomes, which are responsible for sorting and recycling toxic proteins within the cell. The researchers believe that the endosomes could be responsible for breaking down the amyloid precursor protein into the toxic fragments that cause damage to cells in Alzheimer’s. The student will investigate how endosomes are affected by the extra chromosome.

    The student will use this information to understand which genes on chromosome 21 could be influencing the risk of Alzheimer’s alongside the amyloid precursor protein.

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    An Extra Dose Of Amyloid

    One of the genes on chromosome 21 codes for the Amyloid Precursor Protein , which is chopped up inside the brain to make the protein, amyloid. A build-up of amyloid in the brain is one of the hallmark features of Alzheimers, and while its still unclear exactly how amyloid contributes to the disease, its the focus of much research into new treatments.

    Its thought that because people with Downs syndrome get an extra dose of APP, they can develop an excess of amyloid in the brain. This appears to make them much more likely to develop Alzheimers than someone without Downs syndrome and at an earlier age.

    Despite this, not all people with Downs syndrome will develop Alzheimers and understanding why some people dont is another important avenue for investigation.

    The unique genetic cause of Downs syndrome makes it an important condition to study to help unravel the causes of Alzheimers and help those affected by both conditions.

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