Down’s Syndrome and
Alzheimer’s Disease
Judith McBrien
Consultant Clinical Psychologist
Learning Disability Service, Plymo...
¼ million½ million
¾ million
DDREG Dementia Group
Plymouth Team
Judith McBrien, Clin Psychologist.
Sarah Whitwham, Clin Ps...
Down’s Syndrome is caused
by an extra chromosome 21
There is a link between
Trisomy 21 and Alzheimer’s
Disease.
People wit...
Age-related prevalence of Alzheimer’s in
Down’s Syndrome & general population
0%
10%
20%
30%
40%
50%
60%
70%
30-39 40-49 5...
Down’s Syndrome &
Alzheimer’s
• Average age of onset of AD is 51-55
(Hutchinson 1999).
• Interval from diagnosis to death:...
Double Jeopardy
• “With an older person it’s
expected, with a younger
person it’s hard to accept”
• “When they first told ...
Importance in ID services
• DS is the most common known cause of
learning disabilities.
• 10-12% of people with ID have DS...
• Prone to health problems giving similar
symptoms.
• Lack of communication skills to report on
symptoms experienced.
• Al...
Why is screening important in the
healthy Down’s population?
• The high risk of Alzheimer’s from 40 years on +
increased l...
Symptoms causing concern
• decline in abilities and/or loss of skills
• deterioration in personality and
behaviour
• loss ...
Differential Diagnosis
or - what else could it be?
• Hypo-thyroidism
• Depression
• Sensory
impairment
• Other physical
pr...
Diagnosis
“The foremost impediment to progress in the
understanding and treatment of dementia in adults
with intellectual ...
Making a diagnosis
• Changes in function must be measured
against a baseline, rather than against a
change from ‘normal’ l...
Screening
• Must be prospective, longitudinal.
• Need measures that do not suffer from
floor effect.
• Internationally agr...
Research meets Practice
What are we doing about this in the Plymouth LD
service?
• Checklist for carers
• Screening progra...
• Many referrals reached
us too late – people
were already in mid-
stage dementia.
• Some carers do not
recognise that cha...
Who refers for dementia
assessment?
• Residential home 25%
• Care Manager 20%
• Community Nurse 15%
• Multi-Disc LD team 1...
What did referrers mention?
• We examined 59 referrals for ‘? Dementia’.
• What did the referrer mention?
– Behaviour chan...
Example Question
Has there been a negative change in memory functioning over
the past 12 months?
For example: Short-term m...
Retrospective Pilot N 44
• Most recent 44 referrals for ‘?dementia’.
• Checklist completed by 2 psychologists from
referra...
Main phase N 159
• Checklist completed on next 159
referrals/re-screens.
• 12 ms later: 120 OK; 39 dementia.
• Correlation...
Cut off scores
• 72% of those who went on to get
dementia scored 3+ (max score 9).
• But 28% who later got dementia had
sc...
“Is there anything to differentiate those scoring ‘1 or 2’
on the checklist?”
Can we ask extra questions?
1. Is the person...
Non-
dementia
Dementia
Higher Score
Lower score
Mood
Memory
Behaviour
Behaviour
Memory
Mood
Behaviour - highest scoring do...
If scoring 1 or 2, refer anyway if:
The score is attributable to change in
the behaviour domain.
The person has Down’s Syn...
The Plymouth Down’s Syndrome
Screening Programme
• Based on best practice guidance (Turk et al 2001).
• A register of all ...
Care Pathway: for when there are concerns about
deterioration in memory, mood, behaviour
• Community Nurse health screen.
...
The Psychology Screen
(for the prospective screening)
Stage 1: Review all file information
Stage 2: With an informed carer...
Stage 3: Individual testing
– Receptive language (BPVS)
– Motor co-ordination (Dalton Brief Praxis
Test): on VIDEO
– Namin...
Use of NAID
• Our first 50 clients were assessed using
the Crayton & Oliver battery & continue
to be.
• Our new battery in...
BPVS
Dalton Brief Praxis Test
Lift your right arm over your head
Dalton Brief Praxis Test
Put the coins in the jar
Dalton Brief Praxis Test
Unlock the padlock ….. Lock the padlock
Dalton Brief Praxis Test
Point to your index finger
Crayton & Oliver
Object Memory
Rivermead Behavioural Memory Test
Picture Recognition subtest
Frequency of screening
• Under 30 years: screen once.
• 40-49 years: every 2 years.
• 50 + years: annually.
• On anti-deme...
184 ‘Down’s Syndrome’
names received
162 Down’s Syndrome
7 moved out
of area
14 not
Down’s
Syndrome
154 consented /
assent...
Age groups of 153 adults with DS
as of Sept 2005
0
5
10
15
20
25
30
35
40
N
18-29 30-39 40-49 50-59 60-69 70+
screened OK ...
Expected and actual prevalence of dementia in N 152
*Expected based on Prasher 1995; and Lai & Williams for 65 yrs +
Age
b...
Usefulness of DMR
• Dementia Questionnaire for the Mentally Retarded (Evenhuis,
1988). Widely used.
• Carer questionnaire,...
Differences between Concerns Cohort
and Healthy Cohort
• Concerns
cohort are
more impaired
on DMR.
• Is it due to
gender o...
Differences between Concerns Cohort
and Healthy Cohort
• Concerns cohort
are older & more
likely to have
diagnosis of
deme...
Differences between cohorts,
controlling for age
• There’s something
wrong with the
concerns group
reflected in raised
DMR...
Differences between cohorts,
controlling for age & dementia
• There are now
no differences
between groups.
• So DMR is
pic...
DMR sensitivity & specificity
0
10
20
30
40
50
60
70
80
90
100
accurate false pos false neg
Prasher cut
offs
Evenhuis
chan...
Did Prasher’s cut-off scores
for DMR work on 1st ass’t?
n False
positives
False
negatives
Accurate
Mild 5 0 0 100%
Mod 29 ...
Conclusions
• The suggested cut-off points of Prasher
(1997) work well for those with mild,
moderate or severe ID. They lo...
Residential Care
• 85% of those with AD are living in local
residential homes for people with ID
(compared to 51% of those...
Importance of research in
clinical practice
• This programme illustrates how
clinical services and research can go
hand in...
Discussion points
• Does your ID team know how many adults
with DS live in your catchment area?
• Is your service offering...
Some of the team … & some
imposters
Reading
• Dodd, K. et al (2002) Down’s Syndrome and
Dementia Resource Pack. BILD
• Janicki, M. & Dalton, A. (1998) Dementi...
DMR cut-off scores for suspecting
possible dementia (Prasher 1997)
Pre-morbid
ID
Cognitive
score
Social score
Mild ID
IQ 5...
Dementia
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Dementia

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Dementia

  1. 1. Down’s Syndrome and Alzheimer’s Disease Judith McBrien Consultant Clinical Psychologist Learning Disability Service, Plymouth Primary Care Trust and DDREG, University of Plymouth Advancing Practice March 2006
  2. 2. ¼ million½ million ¾ million DDREG Dementia Group Plymouth Team Judith McBrien, Clin Psychologist. Sarah Whitwham, Clin Psychologist Lorna Rogers, Community Nurse Tracey Salvidge, Research Assistant Collaborating with Prof Stephen Brown, Psychiatrist & Wendy Mathurin, Specialist Nurse in Cornwall; Dr Caroline Smith, Psychiatrist & Sue Cullen, Clin Psych Exeter.
  3. 3. Down’s Syndrome is caused by an extra chromosome 21 There is a link between Trisomy 21 and Alzheimer’s Disease. People with DS are at risk of AD at a much earlier age than the general population.
  4. 4. Age-related prevalence of Alzheimer’s in Down’s Syndrome & general population 0% 10% 20% 30% 40% 50% 60% 70% 30-39 40-49 50-59 60-69 70-79 80+ age bands DS Gen Pop
  5. 5. Down’s Syndrome & Alzheimer’s • Average age of onset of AD is 51-55 (Hutchinson 1999). • Interval from diagnosis to death: average 3-6 yrs (Prasher 1995). • Life expectancy of DS has increased - now over 50 years. • Virtually all people with DS >40 years show characteristic brain changes of AD - although not all show clinical signs.
  6. 6. Double Jeopardy • “With an older person it’s expected, with a younger person it’s hard to accept” • “When they first told me - all those years of striving to give him some sort of life - just seemed to have been fruitless. It was just like the beginning when they told me he had DS”
  7. 7. Importance in ID services • DS is the most common known cause of learning disabilities. • 10-12% of people with ID have DS (Janicki). • In pop’n of 260,000 (i.e. Plymouth) there are 1,326 adults with learning disabilities known to ID services • Therefore might expect 133-160 to have DS. • We have found 162 adults with DS (12.2%).
  8. 8. • Prone to health problems giving similar symptoms. • Lack of communication skills to report on symptoms experienced. • Already lower levels of ability mean tests used in general population are not useable. • Carers can change frequently with consequent lack of detailed knowledge of changes in functioning. Why is diagnosis difficult in people with DS?
  9. 9. Why is screening important in the healthy Down’s population? • The high risk of Alzheimer’s from 40 years on + increased life expectancy. • There is no test for Alzheimer’s so diagnosis relies on establishing a change in function from a known baseline. • Early diagnosis is essential because – the available drugs work best if prescribed early – it can progress rapidly requiring urgent attention to care management and treatment. • If there is no screening, diagnosis is very difficult and slow.
  10. 10. Symptoms causing concern • decline in abilities and/or loss of skills • deterioration in personality and behaviour • loss of short term memory and/or confusion What’s the differential diagnosis?
  11. 11. Differential Diagnosis or - what else could it be? • Hypo-thyroidism • Depression • Sensory impairment • Other physical problems • Abuse • Stress
  12. 12. Diagnosis “The foremost impediment to progress in the understanding and treatment of dementia in adults with intellectual disability is the lack of standardized criteria and diagnostic procedures” (Aylward, 1997).
  13. 13. Making a diagnosis • Changes in function must be measured against a baseline, rather than against a change from ‘normal’ level. Longitudinal testing is essential. • Perception of decline and way it is shown depends on pre-morbid level of intellectual function AND demands on person in everyday life. • Diagnosis should use ICD-10 criteria.
  14. 14. Screening • Must be prospective, longitudinal. • Need measures that do not suffer from floor effect. • Internationally agreed battery exists but little used in UK. • Attention needed to record keeping over many years.
  15. 15. Research meets Practice What are we doing about this in the Plymouth LD service? • Checklist for carers • Screening programme • Multi-disciplinary care • Training for carers • Research
  16. 16. • Many referrals reached us too late – people were already in mid- stage dementia. • Some carers do not recognise that changes are occurring. • We wanted to provide a simple tool to alert people to when to refer. The screening checklist Sarah Whitwham
  17. 17. Who refers for dementia assessment? • Residential home 25% • Care Manager 20% • Community Nurse 15% • Multi-Disc LD team 13% • Psychiatrist LD 10%
  18. 18. What did referrers mention? • We examined 59 referrals for ‘? Dementia’. • What did the referrer mention? – Behaviour changes 56% – Mood changes 19% – Memory changes 17% • These three areas = 92% of reasons. • So these 3 make up the checklist. • Similar findings Lai & Williams, 1989, Evenhuis, 1990
  19. 19. Example Question Has there been a negative change in memory functioning over the past 12 months? For example: Short-term memory problems? Repetitive in conversation? Needs frequent reminding/ prompting? Concentration problems? No Change Extensive Change     0 1 2 3
  20. 20. Retrospective Pilot N 44 • Most recent 44 referrals for ‘?dementia’. • Checklist completed by 2 psychologists from referral letter information. • Inter-rater reliability good for each domain and total score. • 13/44 developed dementia (5-22 ms later). • Strong correlations between each domain & total score and later diagnosis.
  21. 21. Main phase N 159 • Checklist completed on next 159 referrals/re-screens. • 12 ms later: 120 OK; 39 dementia. • Correlations p <0.01 re higher scores on each domain and total score for those later diagnosed.
  22. 22. Cut off scores • 72% of those who went on to get dementia scored 3+ (max score 9). • But 28% who later got dementia had scored less than 3. • We looked at these more carefully.
  23. 23. “Is there anything to differentiate those scoring ‘1 or 2’ on the checklist?” Can we ask extra questions? 1. Is the person over a certain age? 2. Is the person male or female? 3. Were there differences in scores in particular domains (memory, mood & behaviour)? NO! NO! Question…..?
  24. 24. Non- dementia Dementia Higher Score Lower score Mood Memory Behaviour Behaviour Memory Mood Behaviour - highest scoring domain for dementia group and the lowest scoring domain for the non-dementia group The dementia group scored significantly higher on the Behaviour domain Those scoring 1 or 2
  25. 25. If scoring 1 or 2, refer anyway if: The score is attributable to change in the behaviour domain. The person has Down’s Syndrome Conclusion…..
  26. 26. The Plymouth Down’s Syndrome Screening Programme • Based on best practice guidance (Turk et al 2001). • A register of all adults with DS has been set up. • Every adult has been screened at least once. • If problems are identified, referrals are made for appropriate assessment, treatment or therapy. • Those with diagnosis of AD receive integrated, multi- disciplinary support and treatment, based on a Care Pathway. • This programme is one of very few in the UK doing prospective screening.
  27. 27. Care Pathway: for when there are concerns about deterioration in memory, mood, behaviour • Community Nurse health screen. • Blood tests to rule out thyroid dysfunction and other problems – G.P. • Screen by Clinical Psychology to assess cognitive level, adaptive behaviour, mood. • Screen by Psychiatrist (inc. refer for CT scan/EEG) to make differential diagnosis. Drugs prescribed where indicated. • Referrals to other members of multi-disciplinary team. • Regular multi-disciplinary review.
  28. 28. The Psychology Screen (for the prospective screening) Stage 1: Review all file information Stage 2: With an informed carer • Checklist of memory, mood, daily living skills & behaviour (DMR) • Measure of carer burden (CAS-ID) • Life events scale
  29. 29. Stage 3: Individual testing – Receptive language (BPVS) – Motor co-ordination (Dalton Brief Praxis Test): on VIDEO – Naming Objects (Crayton & Oliver) – Tests of memory (Crayton & Oliver, RBMT item) – Orientation
  30. 30. Use of NAID • Our first 50 clients were assessed using the Crayton & Oliver battery & continue to be. • Our new battery includes some of the NAID sub-tests.
  31. 31. BPVS
  32. 32. Dalton Brief Praxis Test Lift your right arm over your head
  33. 33. Dalton Brief Praxis Test Put the coins in the jar
  34. 34. Dalton Brief Praxis Test Unlock the padlock ….. Lock the padlock
  35. 35. Dalton Brief Praxis Test Point to your index finger
  36. 36. Crayton & Oliver Object Memory
  37. 37. Rivermead Behavioural Memory Test Picture Recognition subtest
  38. 38. Frequency of screening • Under 30 years: screen once. • 40-49 years: every 2 years. • 50 + years: annually. • On anti-dementia drugs: screen every 6 months (NICE guidance).
  39. 39. 184 ‘Down’s Syndrome’ names received 162 Down’s Syndrome 7 moved out of area 14 not Down’s Syndrome 154 consented / assented 8 refused consent/assent 154 All screened 4 died 25 dementia (16%) 6 died 6 found to have concerns – 4 dementia, 2 other
  40. 40. Age groups of 153 adults with DS as of Sept 2005 0 5 10 15 20 25 30 35 40 N 18-29 30-39 40-49 50-59 60-69 70+ screened OK 151 dementia 25 Age range 20 - 76 yrs. Average age 42 yrs Gender 61% 39% Men Women BPVS mean age 4 yrs 5 ms (range 2-11 yrs) 28% of >40s have dementia
  41. 41. Expected and actual prevalence of dementia in N 152 *Expected based on Prasher 1995; and Lai & Williams for 65 yrs + Age bands N DS (% of 152) Expected Prevalence AD* N expected in Plymouth N for Plymouth cohort 18-29 29 (19) 0% 0 0 30-39 33 (22) 2% 0.66 0 40-49 27 (18) 9.4% 2.55 5 50-59 34 (22) 36.1% 12.3 9 60-69 17 (11) 75% of 65 yrs + 14.3 11
  42. 42. Usefulness of DMR • Dementia Questionnaire for the Mentally Retarded (Evenhuis, 1988). Widely used. • Carer questionnaire, measures cognitive and social functioning across 8 sub-scales, divided into two areas: • Cognitive Score: short term memory, long term memory, spatial and temporal orientation. • Social Score: speech, practical skills, mood, activity and interest, behavioural disturbance. • Evenhuis (1992, 1996) reported sensitivity up to 100% in identifying dementia. Proposed cut-off & change scores for probable dementia. • Prasher (1997) independent evaluation on 100 adults with DS in UK - poor specificity, suggested modifications to the cut-off scores.
  43. 43. Differences between Concerns Cohort and Healthy Cohort • Concerns cohort are more impaired on DMR. • Is it due to gender or ability? • Is it age, is it dementia? Variable (medians) Concerns Cohort (25) Healthy y Cohort (75) Sig DMR Cog 20.5 10 p < 0.001 DMR Soc 14.5 6 p < 0.001
  44. 44. Differences between Concerns Cohort and Healthy Cohort • Concerns cohort are older & more likely to have diagnosis of dementia. • No differences in ability or gender. Variable Concerns Cohort (25) Healthy Cohort (75) Sig > 45 years 84% 30.7% p < Dementia 40% 2.7% p < More able (BPVS +/- 50) 54.5% 49.3% ns Men 60% 66.7% ns
  45. 45. Differences between cohorts, controlling for age • There’s something wrong with the concerns group reflected in raised DMR scores that is not accounted for by age. • Try removing those with dementia. Variable (medians) Concerns 45+ years (18) Healthy 45+ years (23) Sig DMR Cog 23 14 p < 0.01 DMR Soc 19 6 p < 0.01 Mean age 55 years 54 years ns
  46. 46. Differences between cohorts, controlling for age & dementia • There are now no differences between groups. • So DMR is picking up cases of dementia. Variable Concerns 45+ years no dementia (9) Healthy 45+ yrs no dementia (21) Sig DMR Cog median 18 14 ns DMR Soc median 9 6 ns
  47. 47. DMR sensitivity & specificity 0 10 20 30 40 50 60 70 80 90 100 accurate false pos false neg Prasher cut offs Evenhuis change scores
  48. 48. Did Prasher’s cut-off scores for DMR work on 1st ass’t? n False positives False negatives Accurate Mild 5 0 0 100% Mod 29 0 0 100% Severe 48 0 0 100% Profound 28 3 2 82% Total 110 3 2 95%
  49. 49. Conclusions • The suggested cut-off points of Prasher (1997) work well for those with mild, moderate or severe ID. They lose specificity and sensitivity for those with profound ID. No cut-off points for those with profound ID have been proposed. • Longitudinal data will be more useful and will become available. • Small numbers available with diagnosis of dementia at the moment.
  50. 50. Residential Care • 85% of those with AD are living in local residential homes for people with ID (compared to 51% of those without dementia). • Looking at those aged over 40 years only, who has had to move home? – Those with diagnosis of AD: 44% (11/25) – Those without diagnosis: 15% (9/61)
  51. 51. Importance of research in clinical practice • This programme illustrates how clinical services and research can go hand in hand. • The prospective screening programme is an important clinical service of benefit to service users and carers. • It has provided a unique data set for research studies.
  52. 52. Discussion points • Does your ID team know how many adults with DS live in your catchment area? • Is your service offering routine screening to all adults with DS under the age of 30 years? • Is your service providing a co-ordinated, multi-disciplinary response to referrals of ‘query dementia’? • Are the anti-Alzheimer drugs routinely prescribed to adults with DS with diagnoses of probable dementia?
  53. 53. Some of the team … & some imposters
  54. 54. Reading • Dodd, K. et al (2002) Down’s Syndrome and Dementia Resource Pack. BILD • Janicki, M. & Dalton, A. (1998) Dementia, Ageing and Intellectual Disabilities. Brunner Mazel. • Kerr, D. (1997) Downs’ Syndrome and Dementia: practitioner’s guide. Venture Press • McBrien, J. et al (2005) TLDR
  55. 55. DMR cut-off scores for suspecting possible dementia (Prasher 1997) Pre-morbid ID Cognitive score Social score Mild ID IQ 50-69 ≥ 7 ≥ 10 Moderate ID IQ 35-49 ≥ 25 ≥ 15 Severe ID IQ 20-34 ≥ 34 ≥ 15

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