National Alzheimer's Project Act: Public Comments on Advisory Council Meeting, April 2018

I would like to thank all the council members and support staff of the NAPA Advisory Council for your tireless efforts towards a seamless, person-centered, young onset Alzheimer's disease services and supports system that is sustainable. It is time to ensure that our commitment is turned into concerted action. The National Alzheimer's disease Advisory Committee sets out what it intends to do to help improve the lives of Americans with intellectual and developmental disabilities (I/DD) living with young onset dementia. However, radical and sustainable change will only come about through the action of persons served with I/DD living with young onset Alzheimer's disease, carers, family members, and organizations working together to challenge fragmented support and services from a myriad of providers to implement a comprehensive IDD syndrome specific person-centered young onset dementia capable system.

Outcome

Persons served with Intellectual and Developmental Disabilities (I/DD) (especially Down syndrome) living with young onset Alzheimer's disease have access to a timely, accurate, and compassionately delivered diagnosis of young onset dementia.

Problem

The Cognitive Impairment Care Planning Toolkit G0505 does not identify I/DD(especially Down syndrome) assessment tools.

I commend and applaud the Alzheimer's Association which has long advocated for Medicare reimbursement for services aimed at improving detection, diagnosis, and care planning and coordination for persons served living with Alzheimer's disease and related dementias (ADRD) and their caregivers.

G0505 provides reimbursement to physicians and other eligible billing practitioners for a clinical visit that results in a comprehensive care plan. G0505 requires a multidimensional assessment that includes cognition, function, and safety; evaluation of neuropsychiatric and behavioral symptoms; review and reconciliation of medications; and assessment of the needs of the patient's caregiver. These components are central to informing, designing, and delivering a care plan suitable for patients with cognitive impairment.

The assessment tools identified in the Cognitive Impairment Care Planning Toolkit are for detection of dementia in the general population and are not appropriate for persons served with intellectual and developmental disabilities (I/DD) (especially Down syndrome). For example, widely-used tools such as the Mini-Mental State Examination (MMSE) (Folstein & Folstein, 2001) assume the pre-morbid level of functioning to have been within the average range. There is great variability of functioning within the population of persons served with (I/DD). Comparison with 'peer-related' norms is not possible as it is with mainstream dementia assessments. Assessment of decline needs to be personalized to each person served with I/DD (especially Down syndrome) with their own unique 'baseline of functioning' being the comparison when concerns arise.

Solution

I implore the NAPA committee to create an informational "Cognitive Impairment Care Planning Toolkit (I/DD, especially Down syndrome specialized) G0505" document.

Interest from all parts of the aging, I/DD, health, behavioral, and social services spectrum abounds with mental acquisitiveness. Education, training, guidelines, standards of care, and skills acquisition are a hallmark of exceptional-quality I/DD specialized young onset dementia care. It is extremely well referenced not just in terms of guides for persons served with I/DD living with young onset dementia, but also for the British Psychological Society and the NTG who developed professional guidelines for I/DD specialized young onset person-centered dementia care. The British Psychological Society and the NTG should be proud of their publication for guidance on the assessment, diagnosis, interventions and support of persons served with I/DD who develop young onset dementia.

Recognizing the epidemic of persons served with I/DD (especially Down syndrome) living with young onset Alzheimer's disease in the community are desperately in need of I/DD specialized person-centered dementia services and supports, I have provided a summary of the incredible exceptional-quality British Psychological Society and the NTG guidance on the assessment, diagnosis, interventions and support of persons served with I/DD who develop dementia to supplement the Cognitive Impairment Care Planning Toolkit. The addition of the I/DD (especially Down syndrome) specialized Dementia assessments recommendation to health care professionals will dramatically increase both awareness and exceptional-quality of the assessment, screening, diagnosis and management of young onset dementia for persons served with I/DD (especially Down syndrome) living with young onset dementia.

Screening Tools for persons served with I/DD (especially Down syndrome)

Cognitive screening in persons served with Down syndrome or other I/DD is challenging and presents several important obstacles. Baseline cognition limits both initial and interval assessments, making the diagnosis difficult. Down syndrome is also associated with a normal-age related cognitive decline and differentiating this from dementia is equally challenging. As Alzheimer's disease often presents atypically in persons served with Down syndrome with frontal type behavioral disturbance and loss of function, onset can be overlooked or misattributed (diagnostic overshadowing).

Treatable conditions that persons served with Down syndrome are more susceptible to that can be confused with young onset dementia.

• Poor eyesight
• Depression
• Poor diet -- leading to nutritional problems or anemia.
• Recent bereavement or significant change
• Cardiac abnormalities -- especially if undetected in earlier life
• Osteoporosis
• Coning of the cornea
• Hypothyroidism
• Sleep apnea/ lack of sleep
• Spine disturbance
• Side effects of medication
• Menopause
• Hearing loss
• Cataracts
• Inflammation of the cornea
• Urinary tract infection
• Changes in knee or hip joints
• Diabetes
• Compulsive disorders

   

General Principles of Cognitive Screening in Persons Served with I/DD (especially Down Syndrome)

The I/DD specialized young onset dementia care pathway for a person served with I/DD living with young onset dementia, their families and carers will involve a workforce that is extensive and diverse, including many staff closely engaged in providing I/DD specialized syndrome specific clinical care as well as offering information, support and assistance. This I/DD specialized, young onset, syndrome specific, person-centered care may be offered in a broad variety of settings including a person served own home, community settings, residential care homes and acute hospitals. Staff will:

• be able to recognize signs of young onset dementia and be aware that these signs may be associated with other health conditions or circumstances
• know why early diagnosis of young onset dementia is important
• be aware of the impact of young onset dementia on persons served with I/DD, families and society
• be able to communicate effectively and compassionately with persons served with I/DD living with young onset dementia
• understand reasons why a person served with I/DD living with young onset dementia may exhibit signs of distress and how behaviors seen in person served with I/DD living with young onset dementia may be a means for communicating unmet needs
• be able to signpost person served with I/DD living with young onset dementia, families and carers to young onset dementia advice, support and information.

   

Young Onset Dementia identification, assessment and diagnosis

Exceptional-quality young onset dementia diagnosis and intervention is one of the objectives identified in the "Cognitive Impairment Care Planning Toolkit." Timely diagnosis is important as it helps persons served with I/DD living with young onset dementia, carers, and family members receive information, support and treatment to improve their quality of life. The diagnosis of young onset dementia where the diagnosis is more complex is carried out by a clinician with I/DD specialist skills. However, non-specialists also have an important role in being able to recognize possible symptoms of young onset dementia, refer to I/DD specialist services and provide sympathetic and non-stigmatizing support.

I/DD specialized young onset dementia specialized professionals:

• understand the different types of young onset dementia, the stages or variants of these diseases and their primary symptoms
• understand how to differentiate between young onset dementia, delirium, depression and other conditions presenting with similar symptoms (hypothyroidism, polypharmacy)
• be able to undertake a comprehensive assessment for persons served with I/DD living with young onset dementia utilizing appropriate investigations and tools
• be able to establish a differential diagnosis of young onset dementia and the underlying disease processes, where appropriate to role
• be aware of the potential impact of diagnostic errors
• be able to act on the findings in partnership with persons served with I/DD living with young onset dementia and the transdisciplinary team
• be aware of the experience of a person served with I/DD living with young onset dementia and their family and carers and be able to communicate with sensitivity about the diagnosis of young onset dementia and related implications
• know how to enroll the person served with I/DD living with young onset dementia in post-diagnosis support services and advanced care planning
• understand the impact of a diagnosis for younger persons served with I/DD living with young onset dementia and their families
• understand the needs of persons served with I/DD living with young onset dementia
• understand the importance of equal access to young onset dementia assessment and diagnosis for persons served with I/DD from diverse communities
• be able to document assessment and diagnosis decisions

   

Symptoms that may indicate the presence of early stage dementia in persons served with Down syndrome.

• Disorientation
• Loss of road sense -- may be earlier than in others
• No interest in previously enjoyed hobbies
• Confusion for no obvious reason
• Onset of seizures -- may occur earlier than in others
• Will attempt tasks without being aware that they are not successful
• Person is not aware that they forget things
• Loss of daily living skills
• Walking apparently aimlessly
• New short-term memory loss
• Deterioration in communication
• Loss of social skills

Reasons persons served with I/DD display cognitive decline

Efficient and effective screening for persons served with I/DD living with young onset Alzheimer's disease is required to diagnose, manage and exclude reversible causes. Older persons served with Down syndrome often have significant co-morbidities (average 5.4 comorbid conditions) and it is important to manage these multiple chronic health conditions, including young onset dementia. Management of young onset dementia, including Alzheimer's disease is like the general population, requiring prompt initiation to maximize benefit and is predominantly supportive.

Older persons served with Down syndrome have a relatively high prevalence of heart disease, obesity and diabetes for their age. Conditions mimicking young onset dementia, such as thyroid disease, are also prevalent in persons served with Down syndrome and are frequently under-diagnosed. The lifetime prevalence of thyroid disease approaches 30% and hypothyroidism, is underdiagnosed. Depression, which can also mimic dementia, is common in persons served with Down syndrome and is screened for and treated.

There are several common reasons for apparent decline in functioning in persons served with I/DD. Changes in functional ability with or without behavior change are often the initial presentation of young onset dementia in persons served with I/DD (especially Down syndrome). It is important to remember, however, that some changes may be part of the normal ageing process. There are several other reasons a person served with I/DD (especially Down syndrome) may show a cognitive decline. The list below, while not exhaustive, describes the most common reasons for change in ability. It is important to recognize that two or more comorbid health conditions is common.

1. Young Onset Dementia: The typical presentation of young onset dementia is one of gradual loss of skills along with change in personality and cognitive decline. Young onset dementia is a diagnosis of exclusion therefore, it is important to consider other conditions that may cause loss of skills and cognitive decline, especially as many of these are treatable.

2. Physical problems include such conditions as hypothyroidism, anemia, uncontrolled epilepsy and chronic infections. Electrolyte abnormalities, hypo- or hyper-glycaemia, nutritional deficiencies particularly vitamin B12 or folate could also cause functional decline in persons served with I/DD. A thorough physical examination and relevant clinical tests are required at the time of initial assessment. These may need to be repeated from time to time as necessary.

3. Sensory impairments: Persons served with I/DD in general and those with Down syndrome in their middle/old age specifically are likely to develop hearing and visual impairments. Visual impairment could be due to development of cataract or conditions such as keratoconusin persons served with Down syndrome. Some 60-80 per cent of persons served with Down syndrome will have hearing problems at some point in their lives. Conductive hearing deficit caused by earwax and the narrow acoustic canal is frequently seen in persons served with Down syndrome.

4. Mental health problems: The most common differential diagnosis is depressive illness (McBrien, 2003) but other conditions such as the exacerbation of an existing psychotic disorder can mimic the presentation of young onset dementia. Severe anxiety can also cause an apparent decline in functioning.

5. Sleep problems: Obstructive sleep apnea or other sleep disorders can cause day time drowsiness, mental slowing as well as confusion, and are particularly common in persons served with Down syndrome. Day time drowsiness and slowing could be interpreted as young onset dementia if the sleep problem is not identified.

6. Iatrogenic (medication related) causes: Medications with anticholinergic side effects can cause cognitive impairments in elderly people and persons served with I/DD. Use of high dose psychotropic/anti-epileptic medications and multiple medications can contribute to cognitive impairment as well.

7. Impact of life events: Persons served with I/DD in their middle age can face several life events such as loss of a parent or long-term carer, moving away from home or loss of day activities. In some persons served, the impact of life events may lead to a regressive state with apparent loss of skills. Changes in routine such as new structure to day opportunities or changes in support staff can cause profound reactions in persons served with I/DD leading to functional decline and a dementia- like presentation.

8. Abuse: Current or recent physical, emotional or sexual abuse in persons served with I/DD may result in loss of skills and regression and the development or exacerbation of behavior problems that might superficially mimic young onset dementia.

9. Impact of poor environment: An unsuitable environment associated with a lack of stimulation, isolation and lack of social opportunities for positive interaction can lead to loss of skills. If this is also associated with changes in support structure, where people do not know the person served with I/DD well, these changes may be attributed to young onset dementia.

10. Acute organic brain syndrome: This may co-exist with young onset dementia or be part of the differential diagnosis. Persons served with I/DD and uncontrolled epilepsy, for example, could present with confusionalstate that may mimic dementia. Persons served with I/DD living with young onset dementia may deteriorate rapidly and develop an acute confusionalstate when they have an acute physical health problem such as a urinary tract or respiratory infection.

Observer-rated Scales

As many neuropsychological tests are not suitable or have not been validated for use in persons served with developmental ages less than five or six, a collateral history is crucial to a diagnosis of young onset dementia in persons served with I/DD, including Down syndrome. Observer-rated scales, also called informant guided questionnaires or interviews, are often preferred over direct neuropsychological testing. Observer-rated scales must however, be interpreted with caution as ageing caregivers may be developing cognitive difficulties themselves or may know the subject too well or insufficiently to be objective. Multiple informants are consulted when persons served with I/DD reside in residential care. While they include cognitive domains, they do not directly test cognition. Several observer-rated scales have been developed, each with their own strengths and weaknesses

Observer-rated Scales

• Dementia Scale for Down Syndrome (DSDS)
• Dementia Questionnaire for Mentally Retarded Persons (DMR)
• The CAMDEX-DS
• Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID)

   

Neuropsychological Tests

• The Down Syndrome Mental Status Examination (DSMSE)
• The Cambridge Cognition Examination or CAMCOG
• The Test for Severe Impairment or TSI
• The DAMES (Down's syndrome attention, memory, and executive function scales)

Measures of Adaptive Behavior

• Adaptive Behavior Dementia Questionnaire (ABDQ)
• Daily Living Skills Questionnaire (DLSQ)

The table below is a comparison of the advantages and disadvantages of different assessment instruments for persons served with Down syndrome living with dementia.

Table 2: Domains included in different screening and assessments instruments for persons served with Down syndrome living with dementia.

Hello. My comments today will be brief. On behalf of AFTD I would like to thank the NAPA council, one more time, for helping to make the Research summit on dementia care and services a reality and for giving the research recommendations generated by the summit a home. I recognize the value of biomedical research but am also aware of how desperate the immediate need for better tools and strategies for care is. While I am hopeful that the work being done to develop medical treatments for these diseases will eventually yield results, I know that there is a lot we can do today to improve care and make life with dementia better.

I also want to commend the summit organizers for including people with dementia as a stakeholder group. Including the patient's voice in research on dementia care and services is critical for understanding how services can improve quality of life

Organizing and presenting the research recommendations is the first step and I look forward to this afternoon's presentation. AFTD is also looking forward to the next steps of implementing those recommendations and remain eager to help however we can.

Thank you for the opportunity to make a brief public statement today.

I wish to reflect on the presentation made by Dr. Randy Bateman regarding the Dominant Inherited Alzheimer's Network during the January 2018 Advisory Council meeting.

First let me say that I was profoundly touched by Dr. Bateman's presentation. The rich scientific research that is focusing on this rare condition is promising and the story that Dr. Bateman told of families most compelling.

In preparation for this statement I went back and listened to the January presentation. Dr. Bateman reflected on the desperation that families feel as they face the high probability of a diagnosis. He spoke of the concern individuals identified had for their children and the motivation to participate in clinical trials based on the incredibly high risk that future generations faced. He noted that families are an essential part of this research and conveyed a deep respect and authentic concern for the community with whom he worked.

In his presentation Dr. Bateman noted the positive outcome of bringing families together to share their experiences at the increasingly successful Family Conferences. He noted the importance of the convergence of families, researchers, doctors, government regulatory representatives and the "Pharma Guys". The video that focused on the man hoping to change the future outcome for his children was a window into their reality.

By the end of Dr. Bateman's presentation I found myself experiencing a broad range of emotions that fluctuated between profound sadness mixed with realistic optimism countered by utter consternation.

The similarities between the experiences of those with Dominantly Inherited Alzheimer's Disease and the experiences of individuals Down syndrome and their families was most striking. In the brief conversation that I had with Dr. Bateman after his presentation, he acknowledged the similarities and the effort they have made to share information and protocols with those doing research on DS.

During Dr. Hodes' introduction of Dr. Bateman, he referred to the "humanly touching consortium" and the marvelous collection of human beings impacted by this rare form of Alzheimer's disease. Though people with Down Syndrome are generally not Mothers and Fathers, they are children, brothers, sisters, aunts, uncles, cousins and beyond. They are a very similarly small group of people disproportionately impacted by a devastating form of AD at a young age. Our families experience a similar fear and sense of desperation with each passing year or with each subtle change in behavior as people age. We are grateful to the community of researchers who are focused on learning more about the onset of AD in this population and hope that one day they will discover the optimal time to intervene before brain damage and loss occurs.

Recently the National Down Syndrome Society hosted an Adult DS Summit here in Washington, DC. They included many sessions dedicated to AD in the DS population. This was a very important step in bringing individuals and families together to share their stories, challenges and reality. We are most grateful to the NDSS for hosting this event. Wouldn't it be equally as significant at some future date to bring together families, researchers, doctors, government regulatory representatives and the "Pharma Guys" to focus on this marvelous collection of human beings?

I close by saying that individuals with DS are also a touching consortium about whom I one day hope to hear in this setting.