Quality of Life
&
Huntington’s disease
Dr Aileen K Ho
University of Reading, UK
EHDN Quality of Life Working Group
Reading
Frequency of HD
Harper, 2002
Biopychosocial model
World Health Organisation International Classification of
Functioning, Disability and Health framework
Huntington’s disease (HD)
HD brain
HD movement
HD thinking
HD behaviour
HD limitations
HD HrQoL
Affects life before birth
– genetic disease
George Huntington
• Long Island, US
• “hereditary chorea”
• 1872
George Huntington
(1850-1916)
Molecular Genetics
Affects the person from conception
– abnormal HD cellular activity
•Expansion of CAG repeat on
the HD gene, chromosome
4p, IT15 gene
•n Autosomal dominant (transmission risk 50%)
(CAG)n
[ 40] HD allele
40
[36- 39] HD allele with reduced penetrance
36
[27- 35] normal unstable allele
27
[6-27] normal allele
1
ATG
2
gene IT-15
CAG = glu (glutamine), or Q
(CAG)n = polyglutamine), or polyQ
exões
Affects the brain
– 20% reduction of whole brain weight
Human brain:
•~ 3 pounds (1400 grams)
•e.g. cantaloupe
•Generates enough electricity to power
a 25-watt light bulb
Dog brain:
•~ 3 ounces (80 grams)
•e.g. small kiwifruit
Affects the brain
– 50% loss of the brain’s basal ganglia
Affects behaviour
– the neuronal foundation of behaviour regulation is eroded
Victorson et al 2014
Biopychosocial model
World Health Organisation International Classification of
Functioning, Disability and Health framework
Huntington’s disease (HD)
HD brain
HD movement
HD thinking
HD behaviour
HD limitations
HD HrQoL
According to WHO
quality of life is:
‘individual’s perception of their
position in life in context of the
culture and value systems in which
they live and in relation to their
goals, expectations, standards and
concerns’
(WHOQOL Group,1995)
• Person-centered
• Subjective
• Patient-reported outcome measure
12
Quality of life (QOL)
•Multi-dimensional construct and may include
dimensions of physical, emotional, social,
productive and material well-being, interpersonal
relations, personal development, selfdetermination, social inclusion, and individual
rights (Felce & Perry, 1995).
Health-related quality of life (HrQOL)
•Disease-specific measures address concerns or
issues pertinent to a particular illness, and capture
the impact of the condition, limitations or
restrictions in function.
HrQoL in Huntington’s disease …
Biopychosocial model
World Health Organisation International Classification of
Functioning, Disability and Health framework
Huntington’s disease (HD)
HD brain
HD movement
HD thinking
HD behaviour
HD limitations
HD HrQoL
‘‘If you really want to help somebody, first you
must find out where he is. This is the true secret of
caring … Helping somebody implies … [that] you
must understand what he understands.’’
Interviews
•
Face-to-face
•
At home
•
Recorded
•
Semi-structured
•
Topics from the literature, operationalised HrQOL concept.
‘…Emotional well-being, spirituality, sexuality, social functioning, family life, occupational functioning, communication,
eating, functional ability, physical status, treatment satisfaction, self-esteem, body image, future orientation…
(Fitzpatrick 1996)
•
Open-ended questions and probes
•
Average 1 hour (1/2hr ~ 2hrs)
•
Verbatim transcription
•
39 individuals interviewed
Health professionals (2)
Partners/carers (11)
People with HD (26)
HDQoL
Available in 18 translations
including Norweigian
100

0

•Self-report questionnaire
•HD specific
•Acceptable to patients & carers
•Quick
•Psychometric validation
•Used in Clinical, Research, Care
applications
6 Specific Scales
- Physical & Functional
- Cognitive
- Mood State
- Hopes & Worries
- Self & Vitality
- Services
Thank You!
Ongoing work
•HDQOL 2nd validation study
– Large well-characterised diverse sample
- Check scale characteristics
- Robust instrument
•Electronic administration
•Follow-up administration
Biopychosocial model
World Health Organisation International Classification of
Functioning, Disability and Health framework
Huntington’s disease (HD)
HD brain
Neuron
HD movement
HD thinking
HD behaviour
HD limitations
HD QoL
Whole person
Thank You
Dr Aileen K Ho
a.k.ho@reading.ac.uk