A dementia assessment clinic model for adults with Down syndrome ...

A dementia assessment clinic
model for adults with Down
syndrome in the Netherlands

A dementia assessment clinic model
for adults with Down syndrome in the
Netherlands
Antonia Coppus, MD, PhD
Cape-Town 2012

A dementia assessment clinic model for adults with
Down syndrome in the Netherlands
I. Introduction
II. Health Watch
III. Results
IV. Conclusion

Introduction: Down syndrome
Characteristics
• Down syndrome is caused by the triplication of
chromosome 21
• Triplication of chromosome 21 occurs 1/750 live births
• Chromosome 21 contains several genes that have been
implicated in neurodegenerative mechanism and
accelerated aging

I. Introduction: Down syndrome
In Down syndrome,
Alzheimer disease is
assumed to be caused by
the triplication and
overexpression of the
gene for Amyloid
Precursor Protein (APP),
leading to the
accumulation of cerebral
Beta-Amyloid

Sabbagh 2011,Arch Neurol
Sabbagh 2011,Arch Neurol

I. Introduction: Down syndrome
Landt, J. et al. Arch Neurol
2011;68:890-896.
Radio-labeled Positron Emisson Tomography

I. Introduction: Down syndrome
Prevalence of dementia
Age-associated dementia in the general population*
65-69 years 0.6%
70-74 years 1.0%
> 90 years 25%
Age-associated dementia Down syndrome**
45-49 years 8.9%
50-54 years 18%
> 60 years 75%
*HEBERT LE ET AL. JAMA 273:1354 1995
**COPPUS ET AL. J. INTEL. DIS RES. 2006

Introduction: Down syndrome
Characteristics
• Persons with DS show a premature and accelerated
aging and an increased risk to develop Alzheimer's
disease
• Alzheimer disease is the main predictor of morbidity and
mortality in this syndrome
• Life expectancy has increased, however there is a lower
life expectancy by 15-20 years compared with the
general population

II. Health Watch- Dementia Diagnosis
Accelerated aging
• Dementia
• Skin and hair changes
• Early onset of menopause
• Visual, hearing impairment
• Thyroid dysfunction
• Seizure disorders

II. Health Watch- Dementia Diagnosis
Accelerated aging
• Obesity
• Sleep apnoea
• Musculoskeletal problems
• Cardiac disorders
• Depression
• Social/family problems

II. Health Watch- Dementia Diagnosis
Multidisciplinairy outpatient clinic
• Physician, specialized in Intellectual Disability Medicine
• Psychologist
• Nutritionist
• Eye specialist
• ENT specialist(ear, nose ,throat)
• Audiologist
• Lab, Echocardiography, X-ray

II. Health Watch- Dementia Diagnosis
Multidisciplinary approach:
• Prevention and early detection of physical and mental
health problems
• Dementia diagnosis
• Intervention

II. Health Watch- Dementia Diagnosis
Health Watch program a dementia assessment
clinic model
• Annually
• Physical and mental health aspects

II. Health Watch- Dementia Diagnosis
Definition DSM-IV:
“The development of multiple cognitive deficits that include
memory impairment and at least one of the following:
aphasia, apraxia, agnosia, or a disturbance in executive
functioning. The cognitive deficits must be sufficiently
severe to cause impairment in occupational or social
functioning”

II. Health Watch- Dementia Diagnosis
• The diagnosis is based on the ICD-10 Symptom
Checklist for Mental Disorders and the guidelines
produced by an international consensus panel
established under the auspices of the Ageing Special
Interest Group of the International Association for the
Scientific Study of Intellectual Disabilities (IASSID)(Aylward,
Burt et al. 1997; 2000)
• ICD-10 criteria put more emphasis on non cognitive
symptoms
• ICD-10 criteria have been modified for use in adults with
Intellectual Disabilities: DC-LD criteria

II. Health Watch- Dementia Diagnosis
Diagnostic Tools (National Institutes of Health)
The initial clinical evaluation of dementia should include:
• Chronology of symptoms
• Family history
• Behavioural and functional changes
• Physical examination
• Mental status test / pre-existing level of cognitive ability
(DMR, DSDS)

II. Health Watch- Dementia Diagnosis
Diagnostic Tools
Basic laboratory test should include:
• Complete blood count
• Electrolytes
• Metabolic panel
• Thyroid function tests
• Vitamin B12 and folate levels
etc

III. Results
± 100 participants
Mean age 36 years (18.6-63.4)
• 20% < 20 years
• 20% > 50 years
Sex:
• Men: 60%
• Women: 40%

III. Results
Living situation:
• Family living 38.2%
• Community setting 56.2%
• Residential setting 5.6%

III. Results
Physical health
• Visual impairment:
Cataract: 40%
Keratoconus: 8%
80% (31% not wearing the
correct glasses)
• Hearing impairment:
71% (30% hear aid, 6% not)

III. Results
Physical health
Thyroid disorders: known: 28%
new : 41%
• subclinical hypothyroidism: 30%
• clinical hypothyroidism : 8%
• clinical hyperthyroidism : 3%

III. Results
Physical health
Congenital heart defects
< 40 years > 40 years
69% 31 %

III. Results
Physical health
Medication use:
Year 1: 49.5%
Year 2: 41.2%
Year 3: 39.2%
Year 4: 29.9%

III. Results
Mental Health
age < 40 years >40 years
• Depression 7.3% 22.5%
• Behavioural disorders 57.1% 87.8%
• Dementia 0% 26.8%
After 4 years follow-up 0% 31.3%

IV. Conclusion
• Medical, behaviour and psychiatric problems are
common among adults with Down syndrome and require
full and early assessment to treat remediable causes
• Systematic screening of adults with Down syndrome
within a Health Watch Program, is usefull in considering
early onset aging or dementia processes

Questions?