MRCPsych Training: Down

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MRCPsych TrainingDowns Syndrome and
Alzheimers Disease
Once youve met one person with dementia.youve
met one person with dementia Tom Kitwood

• Dr Shelley Bevins, Clinical Psychologist
• Lorna Rogers Community Nurse
• Community Learning Disabilities Team, Plymouth
  Community Healthcare, CIC

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This morning

• What we hope to cover
• What is dementia and why is it more prevalent in
  people with Downs syndrome?
• Assessment of dementia (including a brief
  introduction to neuropsychological assessment in
  people with LD)
• Supporting people with LD and dementia.
• Case vignettes

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What do you know about dementia?

• What are the symptoms?
• Who is at risk?
• Can it be treated?
• Can it be cured?
• Is there a test for it?
• How long does it last?

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DSM-IV definition of dementia

• Diagnostic features include memory impairment
  and at least one of the following aphasia,
  apraxia, agnosia, disturbances in executive
  functioning.
• In addition, the cognitive impairments must be
  severe enough to cause impairment in social and
  occupational functioning.
• Importantly, the decline must represent a decline
  from a previously higher level of functioning.
• Finally, the diagnosis of dementia should NOT be
  made if the cognitive deficits occur exclusively
  during the course of a delirium.

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What causes dementia?

• Cerebral cortical degeneration
• AD, LBD, FTD (behavioural and language variants)
• Subcortical degeneration
• PD, HD, CBD, PSP
• Toxic/metabolic disorders
• Alcohol, Vitamin B12 deficiency
• Cerebrovascular
• Multi-infarct dementia, Subcortical Ischemic
  Vascular Disease, CADISIL
• Infections/inflammation
• CJD, MS, AIDS
• Neurological insult
• Tumour, hydrocephalus, brain injury, dementia
  pugilistica, subdural haematoma.

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Fronto-temporal dementia (9-12)
Vascular Dementia (10-15)
Lewy Body Dementia (10)
Alzheimers type dementia (50-70)
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Causes Risk Factors of dementia

• Age
• Gender (even when controlling for longevity).
  Females increased AD likelihood, Males VD
• Vascular risk factors (smoking, vascular disease,
  diabetes etc), even in AD
• Head Trauma
• Education (and head size) ? Cognitive reserve
• Family history
• Apolipoprotein E (ApoE) status
• McCullagh et al., (2001)

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Alzheimers Disease Plaques and Tangles

• ? Cause or symptom
• Amyloid Plaques are deposits of beta-amyloid
  protein that build up in the spaces between nerve
  cells.
• Neurofibrillary Tangles are twisted fibres of tau
  protein that build up inside cells.
• Neocortical atrophy with neuronal loss
• Synaptic loss
• Neurochemical changes cholinergic deficits to
  cortical and limbic regions.

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Diagnostic Triangle
History (Medical, Personal)
Test Scores
Presentation
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Symptoms of Alzheimers Disease - What to look
out for
EARLY STAGE Loss of short-term memory Loss of
daily living skills Loss of sociability Loss of
interest in favoured hobbies Withdrawal of
spontaneous communication Disorientation /
confusion Increased wandering Onset of seizures
MID STAGE Language problems - naming objects,
maintaining conversation, understanding
others. Disorientation in time, place and
person. Confusion. Loss of self-care /
incontinence. More severe changes in
personality and social behaviour. Irrational
fears. Verbal / physical aggression.
LATE STAGE Problems with walking/balance
Seizure activity Loss of eating/drinking/self-c
are skills Severe intellectual
deterioration Marked personality and mood
changes Incontinence
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Downs Syndrome (DS)

• DS is the most common syndrome associated with
  learning disabilities (20).
• 95 of DS cases are Trisomy 21, 5 caused by
  other abnormalities of chromosome 21
  (translocation and mosaicism.)
• People with DS are at higher risk of Alzheimers
  Disease at an earlier age than the general
  population.

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Downs Syndrome Dementia

• Increased life expectancy
• Link between chromosome 21 and amyloid production
• Average age of onset is 55 years. 9 years (on
  average) from diagnosis to death.
• Virtually all people with DS gt40 years show
  characteristic brain changes of AD - although not
  all show clinical signs.

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Why this risk?

• In DS, apoE4 protein (established risk factor)
  might interact with A? deposit, promoting amyloid
  formation.
• This results in the development of plaques and
  tangles as seen in AD.
• This build up is thought to be due to the over
  expression of the A? precursor gene on Chromosome
  21.

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Differential Diagnosis

• If not dementia, what could it be??

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• Thyroid Disease
• Depression grief reactions
• Sensory Impairment
• Tumours
• Vitamin B12
• Acute confusional state (delirium, constipation,
  infections, sodium levels, lack of sleep)
• Environmental changes
• Medication Side Effects
• Subdural haematomas
• Stroke
• Brain Injury
• Cervical Spine Instability
• Alcohol drugs
• Epilepsy in dementia

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Neuropsychology and the Assessment and Treatment
of Dementia
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• What is clinical neuropsychology?
• The study of brain-behaviour relationships
• Neurologists - how the brain is functioning
• Neuropsychologists - how the person is
  functioning
• as a result of the brain changes.

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Neuropsychological Assessment

• Reasons for a neuropsychological assessment in
  learning disability work
• Baseline of functioning
• Monitoring change over time
• Differential and clinical diagnosis
• Specificity of diagnosis (type of dementia)
• Monitoring impact of medication
• Cognitive strengths and weaknesses - capacity
• Assessment of executive functioning
• Intervention planning

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Neuropsychological Assessment
Executive functions
ADLs
Visuospatial skills
Language
Memory
Praxis
Ability to organise life
Orientation
Social skills
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Neuropsychological assessment of dementia (non LD)

• Screening tools include
• AMTS, MMSE, ACE-R, CamCog, MEAMS, RBANs
• NART / WTAR (premorbid functioning)
• Further Assessments may include
• Estimates of premorbid level of functioning
• Memory
• Language
• Executive functions
• Attention concentration
• Visuospatial
• IQ
• Praxis

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Neuropsychological Assessment of dementia (LD)

• The Plymouth Psychology dementia screen
• Review all file information
• Individual testing
• Verbal comprehension (and general verbal ability
  level)
• Tests of visual memory
• Naming
• Orientation
• Tests of planning and problem solving (new)
• With an informed carer
• Clinical interview
• Checklist of memory, mood, daily living skills
  behaviour (DLD)
• Life events scale
• Depression scale, if relevant

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BPVS
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Crayton OliverObject Memory
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Dementia in Learning Disabilities (DLD)

• Formerly known as the DMR (Evenhuis et al.,
  2007).
• 50 item informant questionnaire.
• Eight sub-scales short term memory, long term
  memory, orientation (making up Sum of Cognitive
  Scores), speech, practical skills, mood, activity
  and interest and behavioural disturbance (making
  up Sum of Social Scores).
• Problems with poor inter-rater reliability
• Cut off scores are available for probable
  dementia in people with Downs syndrome
  (separated into people with mild, moderate and
  severe LD)

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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 for
  as long as required.
• For non-DS, people are screened as and when
  concerns arise and re-screened 6-12 months later.

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104 people with DS on screening programme register
92 no concerns
5 with concerns being investigated
5 with Dementia
Age group National rates (from BPS/MRCPsych) Plymouth rates
30-39 Up to 2 0
40-49 10-25 2/31 (7)
50-59 20-50 1/18 (6)
60 30-75 2/4 (50)
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Group Activity

• Derek Video

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Interventions

• ACIs (Anti-dementia medications)
• Environmental modification
• Memory boxes/books
• Communication passports
• Training and education for individual, friends,
  carers and family
• Individualised (person-centred) plans for
  supporting the person with dementia.
• Health Action Plans Annual Health Checks

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Acetyl cholinesterase inhibitors (AChIs)

• Donepezil (Aricept)
• Rivastigmine
• Galantamine
• Memantine partial NMDA antagonist

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Cholinergic hypothesis

• Levels of choline acetyltransferase activity
  reduces in AD, DLB and Parkinsons dementia.
• There is a correlation of cholinergic deficit
  with degree of dementia and with pathological
  lesions (plaques)
• Acetylecholinesterase inhibitors prevent the
  breakdown of acetylcholine postsynaptically by
  deactivating AChE thereby increasing ACh
  activity

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Choline acetyltransferase synthesises choline and
acetyl-coenzyme A into the neurotransmitter
acetylcholine
Acetylcholinesterase (AChE) breaks acetylcholine
back into acetate and choline
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Efficacy of medications

• NICE guidelines (2011) recommend for
  mild-moderate AD.
• Small treatment effects on RCT studies in general
  population (Cochrane, 2009).
• However, AD2000 (2004) study showed no benefit
  from donepezil in a large RCT.
• Cognition averaged 0.8 MMSE points better
• Functional skills 1.0 BADLs point better
• No significant benefits in terms of
  institutionalisation or progression of disability
• No difference in BPSD, carer distress, formal
  care costs, unpaid caregiver time, adverse events
  or deaths
• Conclusion Donepezil is not cost effective,
  with benefits below minimally relevant
  thresholds. More effective treatments than
  Cholinesterase Inhibitors are needed for
  Alzheimer's disease.

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• In people with Downs syndrome
• Rivastigmine
• Less decline over 24 weeks in global functioning
  and adaptive behaviours (Prasher et al., 2005)
• Mixed results for Donepezil
• No improvement in cognition (Prasher et al.,
  2002)
• Significant positive effects (Lott et al., 2002).
• Initial improvement in global functioning and
  adaptive behaviours. Follow up at 104 weeks
  significantly less ? in the treatment group
  (Prasher et al., 2003)

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Recap

• Recap on dementia, particularly AD, including
  risk factors and neurodegenrative process
• Downs syndrome and link between DS and AD
• Neuropsychological assessment of dementia in
  general and Downs syndrome populations
• Interventions, including non-pharmacological
  interventions
• ACIs and evidence for their use in DS populations

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Vignettes

• Consider
• What might be happening for the Service User?
• What differential diagnoses might you consider?
• What assessments would you want to undertake?
• What would you do next?
• Who else would you involve?