DOWN SYNDROME AND ALZHEIMER’S DISEASE

Alzheimer’s disease (AD) is a prolonged, progressive, and incurable dementia that

affects an individual, cognitively, functionally and emotionally. A person is unable to think

coherently, use reason or logic, language, or may be disoriented to space, time and self. The

individual may be unable to start or complete an activity thus becoming easily distracted and

frustrated at this loss of purpose. As the person moves toward the middle stages of the

disease, the individual is unable to complete basic activities of daily living, recognize family

and familiar objects, thereby requiring full time supervision and care. In advanced disease the

person is bed bound, mute, bowel and bladder incontinent, unable to eat or swallow. The

course of the disease can last 3-20 years thus imposing a long and intense illness for the

affected person and caregiving experience for family members and caregivers.

The cause of Alzheimer’s disease is still unknown, and to date, the treatment is

palliative with cholinesterase inhibitors and other medications to manage some of the

cognitive and behavioral symptoms associated with Alzheimer’s disease. Education, respite

and emotional support remain the most important strategies for helping affected individuals

and family/caregivers through-out the prolonged course.

A probable clinical diagnosis is made in life, and definite diagnosis only on

autopsy. Based on the presentation of the clinical features seen in the person in life, and

then on autopsy if the hallmark neurofibrillary tangles and neuritic plagues are present, then

a definitive diagnosis of Alzheimer’s disease is confirmed.

Risk factors for Alzheimer’s disease are:

Age represents the greatest risk factor. Approximately one in 8 adults over 65 and

approximately 50% of individuals over the age of 85 are affected.

Family History

Genotype

Down Syndrome

DOWN SYNDROME AND THE CONNECTION TO ALZHEIMER’S DISEASE Down syndrome (Ds) appears in 1 to 691 live births and accounts for approximately 15% of

cases of developmental disabilities. As recently as the 1930’s, the average life expectancy of

persons with Down syndrome did not extend beyond the early 20’s. Advances in medical,

technological and personal care procedures have contributed to approximately 70% of

individuals now living beyond their 50th birthday. Nevertheless, it is known that individuals

over 40, who have Down syndrome and who have a family member with Alzheimer’s disease,

are at greater risk of developing Alzheimer’s disease. Why is this?

Clinicians have noted that persons with Down syndrome have an accelerated aging process,

which means that as early as 40 years, individuals have certain conditions, and physical

features common to the experience of an elderly person in the general population. Although,

this is not fully understood, it is suspected that certain genes located on chromosome 21 are

associated with the aging process and also the production of a key protein found in the brains

of persons with Alzheimer’s disease.

As we know persons with Ds have a third full or partial copy of chromosome 21 making the

person with Ds more vulnerable to aging and Alzheimer’s disease. Interestingly, the hallmark

tangles and plaques of Alzheimer’s disease are present in the brains of all adults with Down

syndrome by the age of 40 years. However, research has shown that these characteristic

tangles and plaques do not necessarily mean that all individuals with Down syndrome will

develop Alzheimer’s disease. Although it has been suggested that approximately 50% of

adults age 60 and older will present with clinical symptoms of dementia, Alzheimer’s disease

is not inevitable in the person with Down syndrome. Nevertheless, just as in the general

population, risk increases with age.

CLINICAL FEATURES 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. The

symptoms are sometimes subtle and because of the pre-existing cognitive impairments,

family members and care providers may not notice that something is amiss. However, just as

in the general population, the course and symptom presentation is unpredictable and unique

to the individual.

Some of the symptoms family members or care providers may see in a person with Down

syndrome are:

Personality changes, irritability or apathy

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

Loss of speech or change in language skills

Disorientation to time, place

Short- term memory loss may depend upon the previous level of memory demands and

reliance on memory in everyday life

Sleep/wake cycle disruptions

IMPORTANCE OF ESTABLISHING A BASELINE

One of the most important things family members can do when a person reaches adulthood

is to keep a journal or log of the individuals’ cognitive, functional, social and occupational

abilities and habits. This baseline (normal behavior) establishes for the family, providers and

clinicians what the person is able to do, when functioning at their very best. Therefore when

changes are seen in the person, those changes can be compared to the person’s previous

level of functioning. The physician has a clear clinical picture and then can determine an

accurate differential diagnosis.

DIAGNOSIS-IMPORTANT CONSIDERATIONS Because the person with Down syndrome has pre-existing cognitive impairment and

functional disability, the diagnosis of Alzheimer’s disease is challenging. Most importantly AD

is not the most likely cause of the functional losses one first sees in the aging person with

Down syndrome, therefore the diagnostic process must be thoughtful and thorough and

always requires multiple clinical visits and monitoring over time. Direct physical exam by the

physician in a clinical setting is an essential part of the process. The diagnosis should not be

made by video or telemedicine.

The physician must rely on the family or provider to give an accurate historical account of the

changes, with time of onset of observed symptoms, duration and also provide the baseline for

that person. Then the determination of probable or possible Alzheimer’s disease can be

reached using a focused, comprehensive historical, medical and neurological and

neuropsychological assessment.

It is important to note that since the person with Ds has pre-existing cognitive impairments,

the standard neuropsychological tests used to determine cognitive losses in the general

population should not be used with the person with Down syndrome. There are dementia

specific neurocognitive assessment tools developed for the person with Ds who has

suspicious symptoms.

The physician must:

Rule out and treat all possible medical causes for the observed changes.

1. As an example hypothyroidism is a common condition in the person with Ds.

2. Or there may be an acute medical condition such as urinary tract infection,

pneumonia, constipation; obstructive sleep apnea.

3. Consider pre-existing head injury; sub-dural hematoma?

4. Cardiac function should be checked, regardless of previous medical history.

5. Other considerations include; poly-pharmacy (many medications, medication

interactions or over-medication).

6. Untreated pain due to osteoarthritis or other chronic conditions.

7. And if appropriate, consider cervical spine concerns.

Rule out delirium (an acute confusional state) due to pre-existing medical conditions or

infection, medication reactions.

Schedule routine hearing and vision screenings to rule out age related hearing loss and

vision impairment.

Diagnose and treat depression. Note if behavior patterns shift over time. It may be useful

to look at other details of life, including visitors or care providers who come and go,

siblings who leave home, deaths of familiar people, pets. Sudden changes in behavior may

reflect acute emotional trauma from events that the person is unable to describe or report

and may increase severity of depression symptoms.

Establish if there is a decline from baseline level of functional performance of daily skills.

Physicians must consider all of the above, treat that which is reversible, monitor the person

and then conduct periodic assessments over time. Then and only then can a probable

diagnosis of Alzheimer’s disease be determined.

THE DIAGNOSIS IS AD: TREATMENT AND SUPPORTIVE CARE As with Alzheimer’s disease in the general population, there is no cure, however the physician

may consider supportive treatment such as cholinesterase inhibitors, or medications for

psychiatric and behavioral symptom management, and as importantly, ongoing education and

support to family and care providers.

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. They are now

faced with the person’s deteriorating status with all of the accompanying care concerns and in

many instances, the elder has limited energy and resources to continue to provide care.

Furthermore, family members and care-providers soon realize that the person with Ds and AD

can no longer learn new skills (at whatever level) so they must be engaged in failure free

activities, or activities that are appropriate for where the person is at in the disease process.

In doing so, the affected person is able to be successful at the activity, thus avoiding

frustration and anxiety.

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. This

involves:

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 from early

stages into advanced disease

recognizing and addressing the respite needs of all formal and informal caregivers

If you are interested in speaking with someone about your family member’s

particular situation, please call the Down Syndrome Association of Greater

Cincinnati Chapter at (513) 761-5400 and ask for Christy Gregg, Adult Matters

Coordinator.

RESOURCES

Down Syndrome Association of Greater Cincinnati

644 Linn Street, Suite 1100

Cincinnati, Ohio 45203

(513) 761-5400

www.dsagc.com

American Association on Intellectual and Developmental Disabilities

ATTN: Alzheimer Disease Workgroup

444 North Capitol Street, NW Suite 846

Washington, DC 20001-1512

1-202-387-1968

www.aamr.org

National Down Syndrome Society

666 Broadway, 8th Fl.

NY, NY 10012

800-221-4602

www.ndss.org

National Task Group on Intellectual Disabilities and Dementia Practices/NTG

www.aadmd.org/ntg

The Arc

National Headquarters

1010 Wayne Ave. Suite 650

Silver Spring, MD 20910

301-565-3842

301-565-5342

www.thearc.org

All web sites are current/accessed December 2013

References

Aging and Down Syndrome: A Health and Well-Being Guidebook

Authored by Julie Moran DO, and Published by National Down Syndrome Society

Alzheimer’s Association, Facts and Figures, 2013

Down Syndrome: Neurobehavioural Specificity, Edited by Jean A. Rondal, Juan Perera.

John Wiley & Sons: 2006

From the National Task Group on Intellectual Disabilities and Dementia Practices/NTG

www.aadmd.org/ntg

1. Guidelines for Structuring Community Care and Supports for People with

Intellectual Disability Affected by Dementia

2. The National Task Group on Intellectual and Dementia Practices Consensus

Recommendations for the Evaluation and Management of Dementia in

Adults with Intellectual Disabilities

3. National Task Group (NTG) Early Detection Screen for Dementia

This brief Informational paper was written by Clarissa Rentz, GCNS-BC, for the Down Syndrome Association of Greater Cincinnati with the intent of summarizing current clinical literature on Down syndrome and Alzheimer’s disease particular to presenting clinical features, diagnosis, treatment and support throughout the course of the disease experience. It is not intended to be a comprehensive document. For further reading on this topic, see above references. December 2013.