Huntington's Disease Care Pathway

Individuals At Risk

Definition of ‘at risk’

• Every child has a 50% risk of inheritance
• If positive test, they will develop HD
• Male and female prevalence is equal
• Can not skip generations

Huntington’s Disease Association

• Regional Care Advisory Service
• Leaflets and publications
• Internet
• Message board
• Peer support
• Branches and support groups
• Independent advice
• Education
• Employment advice
• Insurance advice
• Support in the caring role
• Psychological support
• Information on research

General Practitioners

• Establish family pedigree
• Advice and support
• Information about the HDA
• Leaflets and publications
• Discuss predictive testing
• Discuss options about having children
• Advice on employment
• Support in the caring role
• Counselling and psychological services
• ? referral to clinical genetics

Clinical Genetics

• Establish family pedigree
• Information about HDA
• Leaflets and publications
• Discuss options re having children, insurance and employment
• Information about genetic testing
• Implications of undergoing predictive test
• Genetic counselling
• Predictive testing
• Follow up support whether positive or negative
• Psychological support
• Information on research
• Family support

Diagnosis of Huntington’s disease (HD)

Definition of HD

• Neuropsychiatric disorder
• Hereditary disease caused by faulty gene on chromosome 4
• Symptoms usually begin between age 30-50 (although late onset can occur)
• Prognosis 15-20 years
• There is a juvenile form
• Incidence of 6-10,000 in the UK
• Prevalence 1 per 100,000 in the UK

Clinical presentation

• Mental Health Symptoms
• Cognitive/Emotional Symptoms
• Motor Symptoms

Mental Health Symptoms

• Irritability
• Aggression
• Obsessive Compulsive Disorders
• Anxiety and apathy
• Depression

Clinical assessment of mental health symptoms

• GP
• HDA
• Community Mental Heath Team
• Psychiatrist
• Psychologist
• Community Psychiatric Nurse
• Specialist HD service
• Social Care
• Employment
• Vulnerable adults
• Driving

Management of Mental Health Symptoms

• Medication
• Training and education of carers
• Structure, routine and boundaries
• Mental Health Act (sectioning)
• Support and care package
• De escalation and distraction techniques
• Environmental enrichment
• Parenting skills

Cognitive and Emotional Symptoms

• Difficulty in switching attention
• Inability to concentrate on more than one thing at a time
• Delayed processing skills
• Loss of drive, initiative and spontaneity
• Impaired recognition and recall
• Impulsive behaviour
• Rigidity of routine
• Emotional blunting
• Inability to read facial expression
• Impaired executive functioning

Clinical assessment of Cognitive and Emotional Symptoms

• GP
• HDA
• Psychologist
• Counsellor
• Neuropsychologist
• Psychiatrist
• Specialist HD service
• Social Care
• Capacity
• Advance Decision to Refuse Treatment (ADRT)
• Lasting Power of Attorney (LPA)
• Employment
• Vulnerable adult
• Driving

Management of Cognitive and Emotional Symptoms

• Medication
• Cognitive Behavioural Therapy (CBT)
• Support worker/care package
• Aide memoires
• Alarms
• Complementary Therapies
• De escalation techniques
• Parenting skills

Motor Symptoms

• Chorea
• Other involuntary movements
• Bradykinesia
• Dystonia
• Rigidity
• Speech
• Swallow

Clinical Assessment of Motor Symptoms

• GP
• HDA
• Neurologist
• Speech and Language Therapist
• Dietitian
• Physiotherapist
• Occupational Therapist
• Wheelchair Services
• Specialist HD Services
• Social Care
• Employment
• Vulnerable adult
• Driving

Management of Motor Symptoms

• Medication
• Aids and adaptations
• Specialist seating, beds, mattresses etc
• Care package
• Massage and complementary therapies
• Parenting skills
• Continuous assessment

End of Life

• Pain relief
• Management of secretions
• Pressure area care
• Artificial feeding
• Preferred place of care
• Advance Directive to Refuse Treatment (ADRT)
• Spiritual/faith
• Dignified death
• Brain and organ donation

Resources and Services

• Residential Care Homes
• Specialist HD Care Homes
• Day Centres
• Care packages
• Social Care
• GP
• HDA
• Community Mental Health Team
• Psychiatrist
• Psychologist
• Counselling
• Spiritual care
• Neuropsychologist
• Independent Mental Capacity Act Assessor (IMCA)
• Independent advocate
• Specialist HD Services
• Neurologist
• Speech and Language Therapist
• Dietitian
• Physiotherapist
• Occupational Therapist
• Wheelchair Services
• Aids and adaptations
• Support worker
• Palliative Care Team
• MacMillan Nurses
• Admiral Nurses
• Hospices
• Housing
• Employment Advisers
• Substance Misuse Teams
• Early Onset Dementia Teams
• Support worker
• District Nurses
• Personalised Budgets/Direct Payments
• Blue badge
• Carer support
• Benefits
• Citizens Advice Bureaux
• Specialist HD Nurses
• Research opportunities
• Respite
• DVLA
• Continence Nurses
• Pain Management Clinic
• Alternative Therapies