People with Down syndrome (DS) are at an increased risk of Alzheimer’s disease (AD) because of the presence of three copies of chromosome 21. Chromosome 21 contains over 300 genes including several that are associated with AD; the amyloid precursor protein gene (APP) is one of these genes. This and other genes are associated with the plaques that accumulate in the brain as well as inflammation and oxidative stress that takes place early in development and progressively leads to mitochondrial impairment, degeneration of neuronal pathways, accelerated aging and loss of brain cells in the cerebral cortex and hippocampus. Although in DS AD brain pathology is frequently seen in the 40’s not everyone with DS exhibits the clinical signs of Alzheimer’s, which usually happens in the 50’s and 60’s, even though all have the brain pathology.
Current scientific evidence from studies of normal aging and AD in the general population points to a healthy Mediterranean diet with fish, nuts, legumes, fruit and vegetables; early treatment of sleep disorders, such as sleep apnea; daily moderate exercise; maintaining a healthy weight; monitoring cardiovascular health; maintaining social connections; and regularly learning new things; as the best ways to try to reduce the risk of AD. New research is focused on discovering novel therapeutic interventions, that may include both pharmaceutical and non-pharmaceutical approaches, but so far prevention is still the best tool we have, as there is no effective treatment. We hope than in the near future there will be more clinical trials dedicated to helping older people with DS to find ways to slow or prevent dementia.
At the Down Syndrome Resource Foundation we receive frequent requests for information from families and community professionals who are supporting someone with DS and AD.
The following information is organized around the headings of:
1. Medical screening to rule out other treatable conditions that might lead to decline
2. The National Task Group Early Detection Screen for Dementia
3. Living with dementia: information for families and caregivers
4. Models of community care: information for service systems
1. Medical Screening to rule out other treatable conditions that might lead to decline
When there is a change in behaviour, or decline in skills, it is very important to rule out other treatable conditions before concluding Alzheimer’s is the cause. According to Dr. Brian Chicoine, in Mental Wellness in Adults with Down Syndrome: A Guide to Emotional and Behavioural Strengths and Challenges (2006):
“If we had assumed that all of our patients over the age of 40 with declines in function had Alzheimer disease, we would have been wrong 75 percent of the time. Only 25 percent had Alzheimer disease. The other 75 percent are being successfully treated for other conditions. There is no cure for Alzheimer disease at this time, so detection of treatable conditions is a vital element of patient care.”
Some of these treatable conditions include thyroid disease, depression, B-12 deficiency, celiac disease, untreated sleep apnea, hearing or vision problems, and a range of other conditions.
The Surrey Place Centre in Toronto, Ontario has developed toolkits for primary health care providers including a Health Watch Table for Down syndrome. These and other resources can be found on their website.
Adult Health Watch Tables and Tool Kits are available on the Vanderbilt Kennedy Center website.
The American Academy of Pediatrics published Health Supervision for Children with Down Syndrome in 2011, which covers the period to young adulthood (so this provides some guidance regarding regular health screening for adults).
Elizabeth Head, PhD, is an Associate Professor at the Sanders-Brown Center on Aging in Lexington, Kentucky, and presented at the DSRF October 2015 Good to Great: Enhancing Quality of Life for People with Down Syndrome, and we recorded her 1.5 hour presentation on preventative strategies for reducing the risk of Alzheimer’s for people with Down syndrome.
2. The National Task Group Early Detection Screen for Dementia
The ‘NTG’ is a coalition of individuals and organizations working toward ensuring that the needs and interests of adults with intellectual and developmental disabilities who are affected by Alzheimer’s disease and related dementias – as well as their families and friends – are taken into account as part of the National Plan to Address Alzheimer’s Disease. Members are families, association and organization representatives, practitioners, academics, and others who contribute time and effort to its activities.
The NTG is supported by the American Academy of Developmental Medicine and Dentistry and the Rehabilitation Research and Training Center on Developmental Disabilities and Health at the University of Illinois at Chicago and other partners, such as the Center on Excellence in Aging at the University at Albany and the Gerontology Division of AAIDD. (retrieved April 29, 2016 http://aadmd.org/ntg).
The National Task Group (NTG) has developed many helpful resources including a dementia screening tool. They recommend that families and caregivers start to use this tool for people with Down syndrome by age 40 so that early indicators will not be missed over time.
3. Living with Dementia: Information for families and caregivers
Dr. Karen Dodd is an international expert in Down syndrome and dementia care practices who presented at the DSRF October 2015 Good to Great: Enhancing Quality of Life for People with Down Syndrome, and we have recorded her presentations. The first two presentations are 1.5 hours each and provide good information for families and caregivers about dementia in Down syndrome and important principals in the provision of care.
DSRF speech language pathologists, Jillian Baldwin and Riley Rosebush prepared a special presentation on supporting communication in Down Syndrome and Alzheimer’s Disease at the DSRF October 2015 conference and we recorded this 1.5 hour presentation:
4. Models of Community Care: Information for Service Systems
Dr. Karen Dodd is an international expert in Down syndrome and dementia care practices and presented at the DSRF October 2015 Good to Great: Enhancing Quality of Life for People with Down Syndrome and we have recorded her presentations. The next two presentations are 1.5 hours each and provide information, for government service planners; government funding bodies; contracted service agencies; and family/community advocates, about service organization and measuring outcomes for people with intellectual disabilities and dementia.
Advocate Medical Group (Adult Down Syndrome Center). The Adult Down Syndrome Center is a primary and specialty healthcare clinic that has served the medical and psychosocial needs of over 6,000 teens and adults with Down syndrome since 1992. Their website includes an online library of over 250 resources for people with Down syndrome, their family and caregivers, and medical professionals.