1. Huntington’s Disease An Overview
Huntington’s Disease Association
Dee Boyd – Regional Care Advisor
Add your own information
What is HD –
Basiic quiz on HD as participants come in and re do at the end
Brain storm – to raise the issues

2. Contents
What is HD?
Statistics
Genetics
Symptoms

3. What is Huntington’s disease?
A hereditary degenerative neuro-psychiatric disorder
Symptoms of HD usually start between the ages of years, although late onset and juvenile manifestation does occur
The prognosis is usually between years from onset of symptoms
Currently no cure
Comment that it is a mouthful – but then break down into understandable sections
A disorder of the brain that gets worse over time passed down from your mum or your dad
Neuro affects your brain
Psychiatric affects your mood and emotions
Currently no cure but we can treat the symptoms – try to take a positive stance on what we can do

4. Statistics 6,000 -10,000 – in the population of the UK 1in 10,000
6-10,000 in the US too
Collate figures for your local regions
Comparison with other neuro conditions – MS is 144 in 10,000
Contrary to popular belief the incidences throughout the UK is fairly constant
There is no official registration of data collection – figures given in this area are based on figures that we know – but there will be others not known to us

5. Genetics
An inherited dominant genetic condition caused by a mutation on chromosome 4
Each child of an affected parent has a 50:50 chance of inheriting the gene and therefore developing the disease at some stage
Identified the gene in 1989 and a predictive test has been available from 1993
Suggested activities:
You may wish to do a ice-breaker in relation to the 50:50 rule.
Use M&M’s (2 different colours) and ask people to choose from a bag without looking – those who get the red have the gene.
Have a 2 bags one of red and green counters (or equivalent e.g. Lego bricks) – this represents the affected parent and one bag with
All green. Place the bags on separate tables and ask people to walk through the middle selecting one from each bag. This represents the genetic mix a family could get from having an affected and unaffected parent.
Take a bag of 2p’s and ask everyone to flick the coin – all heads affected by HD all tails not (in the right environment you can ask people to do this with their own money and then all the heads have to donate the coin)
Choices – you may wish to open if the question whether people would test if they knew they were at risk? Try and make sure people think about the implications (e.g. Ask them – if you had a negative test how would you feel? Are there any negatives to a negative test?)
You may wish to go into more detail in relation to predictive testing, pre natal, PIGD, ethics
Case study – on genetics is available

6. Implications Huntington’s disease affects the whole family
It can have an effect on generations
Sometimes a person who has the HD gene dies before any symptoms appear. The gene may have been passed on without anyone realising it is in the family
Anyone who inherits the gene will develop the disease unless they die before this happens

7. These problems interact with each other
A Triad of problems with Huntington’s disease
These problems interact with each other
Physical problems
Emotional problems
Cognitive problems

8. Healthy vs. HD Brain Healthy on the left affected on the right.
Important to see how drastic the changes are (smaller, area of deterioration in basal ganglia /frontal lobes how this links with the symptoms)– and these changes in the brain aren’t going to reverse. When we have to deal with symptoms of HD, it’s not the fault of the person with HD it is the devastating effect that the disease has had on the brain, so a lot of our work is trying to accommodate the changes in out management. 8

9. Typical Physical Changes
Chorea - Often starts with fidgety movements
Might seem clumsy or stumble more than usual
Over time movements tend to become more noticeable
Voluntary movements also affected
Rigidity
Movements – fidgety (esp. hand and feet), in the early stages hardly noticeable, changes into the random involuntary movements (chorea), these involuntary movements can be misinterpreted as misbehaviour, over time people often become rigid and the problems change.
Voluntary movements – fine motor control – slowed movements and lack of control of force of movement; examples – slammed door- can be misinterpreted as aggressor. moderator button
Point out that involuntary movements tend to lessen in the later stages and people may become rigid –
Important to review medication and check for pain due to contractions – also pressure sores due to weight loss and inactivity, friction burns 9

10. Typical Physical Changes
Speech might sound a bit slurred
Lack of control of volume
As the disease progresses, swallowing problems are common
Weight Loss
Incontinence
Speech – starts with slight slurring of speech (people are often mistaken for being drunk*), then partly because of the physical changes in terms of the muscles around the throat speech deteriorates, but this is also because of the problems with thinking. At a stage where speech is beginning to deteriorate communication aids can be used, where people can point to answers rather than say them. In time people tend to lack much communication – but it is important to remember that most people with HD can understand what is being said to them right the way through the disease.
*Gait and slurring – what would this lead people to believe?
Swallow – because of physical changes and muscles around the throat. Starts with coughing with certain foods, in time choking on foods, certain food have to be avoided and other foods adapted – liquids thickened and solids pureed. In the end stages people will loose the ability to swallow and often a PEG feed is needed. Input of SALT is essential throughout. Linked to this is problem of weight loss – people with HD tend to loose weight, not exactly sure of the reasons but partly because of the movement, and may be due to the swallow. But as a general rule people with HD need to take in around 5000 calories a day – twice that of other people. This is done by eating more food and adapting the food they are eating.
Why do you think people would lose weight? – movements and swallowing difficulty. Research suggests that it may be related to a chemical imbalance in the brain – resulting in an alteration in the metabolic rate.
Is it truly incontinence, or lack of time – to get there, to get clothing adjusted etc. 10

11. Typical Cognitive Changes
Harder to plan and think ahead
Harder to switch from one task to another
Prefer a set routine, and want things done in a certain way and immediately. Change to routine can cause anxiety or frustration
Changes in behaviour may be due to medication, pain, temperature, visitors, staff, fatigue, processing skills, frustration and overload
Planning and thinking ahead – simple tasks become very difficult e.g. getting dressed – have to go and get clothes out decide what is an appropriate selection for where we are going and the time of year etc, then get the clothes on in the right order, we would normally look in the mirror to get feedback – see if our jumper is back to front or flies undone – someone with HD might end up without socks on or with a blouse over a jumper etc.
Switching from one task to another (multi-tasking) most of us find this difficult if we are tired or stressed but people with HD find it difficult all the time. E.g. Ironing while watching the TV.
Lack of motivation – appear lazy, often a problem with initiation rather than the task itself – e.g. cleaning takes a lot of planning
Memory – an impaired ability to learn new information and an impaired ability to recall the information – this could because we normally have strategies to help us remember e.g. grouping information
Inability to recognise a problem, may be unable to recognise their own disability. E.g. someone with severe choreic movements going and getting in the car and driving.
Daily tasks become exhausting. Fatigue affects day to day performance and behaviour – can lead to irratability
Day/night reversal may occur – whose problem is it. Scenario on night shift
Use Stroop slide - test 11

12. Typical Cognitive Changes
Lack of motivation – appear lazy
Memory and concentration problems
Inability to recognise they have a problem
Denial – or is it?
Reduced ability to read facial expression
Inability to adapt behaviour
Extra processing time is required. Longer to receive an answer
Organic denial due to the degeneration of the brain
Initiate people to do things and after that they will participate
The person may not pick up on others people emotions, ie. Anger, joy, frustration, pain
As care giver you have to adapt your behaviour as they are unable to adapt theirs – remember the picture of the brain.
Describe the ticking clock – no answer does not mean no + no does not always mean no.
Could use some of Jim P’s material to demonstrate
Counting back in 7’s from 100 – also months of the year backwards

13. Typical Emotional Changes
Cognitive changes lead to frustration which in turn lead to temper outbursts
Emotional changes often start with subtle changes to mood / behaviour
Some people become aggressive, demanding, stubborn and self-centred.
Depression is common, but very treatable
Someone who was once calm in their nature becomes irritable
Temper outbursts can put a great strain on a relationships especially if outbursts are directed towards the partner. Many reasons for a person with HD to be angry – having HD, loosing a parent to it, putting children at risk, being dependant on others for care, losing control of ones day-to-day activities. These reason plus damage to the brain which means it’s difficult to control impulses create a tendancy to become angry quickly “short fuse”. This can be very frightening for those on the receiving end – this is the time to give space or a ‘wide berth’ protect yourself and those nearby – do not attempt to reason, explain or persuade. This may further antagonise. Try to figure out what caused the outburst and make sure it doesn’t happen in future. People with HD often ‘cool down’ as quickly as they ‘heat up’. Often people will apologise later on – accept this.
This is often happening before a diagnosis and it can be a frightening and very difficult time for the person and those around them
Depression can come from changes in the brain or a reaction to the nature of the disease itself 13

14. Typical Emotional Changes
Again because of cognitive changes people can be impulsive or irrational, behaving in a disinhibited way or obsessive with things
These may lead to social isolation
Find it difficult to see things from someone else’s point of view – often though will find that people do come and apologise later on
Impulsive or irrational – seen with money, people going and buying a car on their credit card when they can no longer drive
Disinhibited – way they dress, talking about inappropriate things
Obsessive – esp see this with smoking or tea making – people get stuck on an idea and can’t move away from it
Possible use of case study or vignette – ask for local anecdotal evidence

15. Points to remember
Some people with Huntington’s disease can experience mental health issues
People with HD are individuals and will differ in the extent and sequence with which they experience symptoms
However, although people may move in and out of the stages, there are broad developments during the progress of the disease
Schizophrenia, OCD, paranoia, psychosis, dementia (not global dementia, only affects certain parts of the brain), suicide (Literature suggests there is a much higher incidence, but in reality is equivalent to other terminal diseases), addiction (drugs/alchohol/cigarettes)
You hear people talking about stages and this may be misleading -

16. Other considerations HD can make a person more difficult to live with
Relationship changes
Not the person I married
Loss and bereavement

17. Salient Points
Huntington’s Disease can be considered as a veil. Sometimes you can see through the veil
The movement disorder is the most apparent
The mental health/behavioural aspects are the most worrisome
The cognitive impairment is the most disabling
Huntington’s Disease affects every individual in a unique way
The Huntington’s Disease Association is a national charitable organisation, employing Regional Care Advisers across England and Wales, providing advice, support and training to families and professionals
NB Re do the quiz from the beginning
Evaluation sheets for feedback

18. Further Reading Huntington’s Disease Association Fact Sheets
A range of other books, leaflets and resources available via the HDA Website and Head Office

19. Huntington’s Disease Association
For more information contact Head Office
Suite 24
Liverpool Science Centre
I31 Mount Pleasant
Liverpool L3 5TF
Tel:
E mail:
Web: