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Down Syndrome Association of Greater Cincinnati Resources
Adults with Down syndrome lead full and meaningful lives. It is important to ensure that as the individual ages, their needs will be addressed and met. Each family will approach the aging process differently. Planning for the future can allow families to decrease decisions made during crisis. Thus families can feel more prepared and educated about options and opportunities for the future of their family member with Down syndrome. The DSAGC provides consultation, education and tools to assist in supporting families throughout the lifespan in whatever stage or situation you are experiencing.
Christy Gregg is a Certified Therapeutic Recreational Specialist (CTRS) with a Bachelors in Science. She is the Adult Matters Coordinator, who is responsible for programming and support for adults with Down syndrome and their families. Christy has the knowledge and expertise of living with a person with Down syndrome. She is a sibling to a younger brother with Down syndrome, and she understands the values of person/family living and supports across the lifespan.
Clarissa Rentz is a masters-prepared registered nurse with board certification in gerontological nursing (GCNS-BC). Prior to retirement in 2011, Clarissa worked with providers, and family members of persons with Down syndrome, who were experiencing cognitive and functional changes associated with the aging process. Since 2011, she has volunteered at the DSAGC, where she serves on the Health Advisory Board, and most recently was appointed to the Board of Directors of the DSAGC. In her current volunteer capacity at the DSAGC, she assists Christy in the development of programming for the aging person with Down syndrome and their family members.
If your loved one is 35 or older, we will send you an "Aging Toolkit" at no charge. Planning for the future and having conversations about the next phases of life can be a difficult and emotional process, but it is also a very important one. We urge you to have these hard conversations and to complete the steps necessary to make the future more secure for your loved one. Please contact Christy Gregg (513-761-5400) to receive the toolkit.
The Connection Between Alzheimer’s Disease and Down Syndrome ©
Written by: Clarissa Rentz, MSN, GCNS-BC. Partially attributed to: Aging and Down Syndrome: A Health and Well-being Guidebook, Lead Author, Julie Moran, DO, Editors, The National Down Syndrome Society.
Alzheimer’s disease and Down syndrome share a genetic connection, leading to the increased risk of dementia at an earlier age for the person with Ds (Strydom et al., 2010). This is frightening for family members to consider. However, if one obtains accurate information and education about the risk of Alzheimer’s disease in the person with Ds, then family members can be prepared for the future, with or without Alzheimer’s disease.
The article below describes Alzheimer’s disease, the risk factors, and the Down syndrome connection. There is discussion of the presenting suspicious symptoms, diagnostic process, and importance of using the Baseline Assessment tool (referenced in topic area VI). Concluding with treatment and supportive options for care.
The Connection between Alzheimer’s Disease (AD) and Down Syndrome (DS)
Alzheimer’s disease is a progressive, degenerative brain disorder, which affects individuals’ abilities to think, reason, remember, use language and know where they are in space and time. Eventually, an affected person is unable to recognize family and friends, mute, unable to swallow, is bed-bound, incontinent, and ultimately requires total care. It is incurable and considered a terminal disease.
The course of the disease can last 3-20 years, affecting all areas of family life. It is a disease that imposes serious financial strains on the family, society and health care systems. Most of the cost of care is borne by families, individuals, or the Medicaid system.
The cause of Alzheimer’s disease is still unknown, and to date, the treatment is medication for symptom management, as well as education and support throughout the course of the illness for individuals and family members affected by Alzheimer’s disease.
The Down Syndrome (DS) Connection
Down syndrome appears in 1 to 691 live births and accounts for approximately 15% of cases of developmental disabilities. In the early 1970’s the, the average life expectancy of persons with Down syndrome did not extend beyond their early 30’s. Despite the accelerated aging process that occurs in persons with Down syndrome, advances in medical, technological and personal care procedures have contributed to approximately 70% of individuals now living beyond their 50th birthday. However, living into old age is not without risk.
Through research and well documented studies we now know that individuals with DS, over 40 years, are at greater risk of developing Alzheimer’s disease. The risk increases with each decade of life. Depending on the particular study one reads, it is estimated that clinical and behavioral symptoms of Alzheimer’s disease present in approximately 50-70% of individuals with Down syndrome by the time they reach 60 years of age.
Why is this so? We know that DS occurs when an individual has a full or partial third copy of chromosome 21. Interestingly chromosome 21 plays an important role in the relationship between DS and Alzheimer’s disease because it carries a gene that produces one of the key proteins involved with changes in the brain caused by AD. Additionally the accelerated aging process that is so evident in persons with Ds is attributed to several genes on chromosome 21 involved in the aging process. Keep in mind, however, that age still remains the greatest risk factor for Alzheimer’s disease in both populations.
We also know that the neuropathological hallmark lesions (tangles and plaques) of Alzheimer’s disease are present in the brains of all adults with Down syndrome by the age of 40 years. This is the confounding part, because not all persons with DS will present with probable Alzheimer’s disease despite these characteristic lesions. Thus the most important caveat is, Alzheimer’s disease is not inevitable in people with Down syndrome.
The symptoms and progression of Alzheimer’s disease in the Down syndrome population present somewhat differently than in the general population. The progression of Alzheimer’s disease for persons with Down syndrome takes, on average, about eight years but it may also advance more rapidly in some individuals. The symptoms are often subtle but because of the pre-existing cognitive impairments, families and care providers may not notice that something is amiss.
Some of the symptoms family members or care providers may see in a person with Down syndrome are:
- Personality changes, irritability or apathy
- Loss of speech or change in language skills
- Disorientation to time, place
- Decline in self care skills; this is important because it reflects a person’s level of functioning and it is here that a care provider or family can observe over time, a subtle or sudden decline
- Abrupt onset of seizure activity when there had been none in the past
- Incontinence, when an individual has always been independent in toileting
- Short- term memory loss may depend upon the previous level of memory demands and reliance on memory in everyday life
- Sleep/wake cycle disruptions
Just as in the general population, the course and symptom presentation is unpredictable and unique to the individual.
The same diagnostic process that applies to individuals in the general population is applicable to those with Down syndrome. However, when there is pre-existing cognitive impairment and variation in a person’s functional ability, the diagnosis of Alzheimer’s disease is difficult and must be determined thoughtfully and thoroughly.
Be aware that common neurocognitive diagnostic tests used in the general population are not useful in individuals with Down syndrome or other developmental disabilities. A determination of probable or possible Alzheimer’s disease can be reached through a focused, comprehensive historical, medical, neurological, and neuropsychological assessment.
The clinician must:
- Rule out and treat all possible causes for the observed changes; for example, hypothyroidism, sensory losses (sight and hearing), acute medical condition (e.g. urinary tract infection), atlantoaxial subluxation, constipation, and sleep apnea, polypharmacy which may cause untoward medication interactions and side-effects.
- Diagnose and treat delirium (an acute confusional state), which can look like a dementia but is acute in onset, treatable and reversible. Often caused by undiagnosed UTI, over-medication, pain, sleep deprivation (due to sleep apnea), as well as other unrecognized, untreated medical conditions.
- Diagnose and treat depression, which can present like dementia, but is also a reversible disorder.
Clinicians must consider all of the above, treat that which is reversible, and then conduct periodic assessments over time.
Importance of Obtaining a Baseline Assessment
Ideally, periodic screenings with identification of baseline skills and functional status should be conducted regularly (yearly after age 35) so that, should changes occur, the baseline measures and life histories will highlight the significance of those changes or losses. (See the NTG-Early Detection Screen for Dementia). This yearly assessment can assist physician in determining the cause for the functional and perceived cognitive losses, which may be treatable conditions and unrelated to Alzheimer’s disease.
Treatment and Supportive Care
However, if an individual with DS is determined to have a probable Alzheimer’s disease, there is no cure. It is a progressive disease meaning that the person’s condition worsens over time thereby requiring more care and supervision. Treatment may include medications such as the cholinesterase inhibitors.
The trade name of these drugs are first, followed by the generic name. Aricept (Donepezil), Exelon (Rivastigmine), Razadyne (Galantamine), and Namzaric (Memantine). These medications have modest effect for only a short period of time. They do not halt the progression of the disease. If necessary, antidepressants may help and for some individuals medications may be prescribed for neuro-psychiatric and behavioral symptom management. Nothing, however is more important than the ongoing education and support to family and care providers as they deal with changes experienced by the affected person throughout the course of the disease. The intensive caregiving is grueling and requires, in the end, full time supervision and support.
Often, the person with Down syndrome is living with an elderly parent or sibling. These family members have advocated and cared for their children/siblings all of their lives. Once again they are faced with new challenges, but at this time in their lives, they are also dealing with their own frailties and health concerns. Siblings are often rearing their own children, but continue to have an important role to play in the care of their family members (both parents and sibling with DS), who are aging and frail.
Some person’s with DS have lived in group home environments. This is the person’s home and care providers are their families, so it is critical that all families and group home providers develop a care plan that is realistic, appropriate, and will meet the needs of both the individual and family/care providers.
- planning for the legal and financial future of the individual
- planning for the future long-term supportive housing/care needs of the individual so that s/he has the opportunity to “age in place”
- addressing the delicate balance that exists between preserving a person’s autonomy, yet providing the supports necessary for maintaining the person in a safe emotional and physical environment
- learning how to care for the individual throughout the course of the disease and, recognizing and addressing the respite needs of all formal and informal caregivers
- consider palliative and hospice care as the person advances into disease, and family/care-providers require more supports to care for the individual in residential or long term care setting