Post on 13-Jul-2020
MembersMeets
UCLH Education Centre
London
14th May 2018
ATAXIA: conditions that affect co-ordination,
balance and speech
Prof Paola Giunti
Ataxia Centre, Institute of Neurology
UCL/UCLH
Ataxia, definition, causes, epidemiology,
symptoms
Ataxia centre as a model of care in
partnership with patients
Research Projects at the Ataxia centre Dr. Nita Solanky, Research Coordinator
Means « lack of order, coordination »
• Loss of balance with unsteady, irregular,
wide-based gait with swaying and risk of
falls
• Limb movements are irregular, fragmented,
tremulous.
• Eye movements are interrupted, not
calibrated, fixation maybe unstable with or
without double vision
• Speech is slurred, in speed and volume
• Tremor in the hands or legs
ATAXIA
Inherited ataxias
–Hereditary ataxias may be
congenital, episodic, or progressive
–Inheritance may be autosomal
dominant, autosomal recessive, X-
linked and mitochondrial
Other forms of ataxia
–Vascular, Inflammatory (eg: multiple
sclerosis)
–Traumatic Metabolic, Developmental,
–Toxic / drug-related (eg: alcohol)
–Neoplastic / paraneoplastic Epilepsy
(in children) Infectious
Treatable Ataxias
• Gluten Ataxia
• Vitamin E deficiency
• Vitamin B12 deficiency
• CoQ10 (ubiquinone) deficiency
• Cerebrotendinous xanthomatosis
• Niemann-Pick type C (NPC)
Treatable Ataxias Mostly in Children
Glucose transporter 1 deficiency
Hypobetalipoproteinaemia
Hartnup disease
Biotinidase deficiency
Pyruvate dehydrogenase deficiency
Structural disorders
Acute encephalopathis
Non-convulsive status epilepticus/ other
epilepsies
Sensory ataxias
Urology
Blurred vision
Dysphagia Myoclonus
Dystonia
Spasticity
Tremor
Cognitive decline Bowel & Bladder
Imbalance
Muscle spasms
Cardio
Slurred speech
Loss of coordination
Common symptoms in different types of Ataxia
Pain
Parkinsonism
Patients clinical pathway
Ataxic Patients
Ataxia Centre
Multidisciplinary
clinical setting
Research (descriptive,
experimental,
interventional)
Translational
Research
Clinical
Excellence
The Ataxia Centre
…a truly multidisciplinary approach to
management
The first Ataxia UK Accredited Ataxia
Centre in the UK 2005
Three Accredited Centres in the UK
• Partnership to
develop Centres
• Funding
• Ongoing
communications
• Volunteer scheme
London
Sheffield
Newcastle
SPECIALIST ATAXIA CLINIC Diagnosis and symptomatic treatment
Improved service
Improved levels of support
Expanding research potential
Start date: February 2005
Received Accreditation in November 2005 by Ataxia UK as first operating Ataxia Centre of Excellence in UK
• Continuity of care - the same neurologist
every visit.
• One hour for new patients, 30mins for
follow up.
• Once weekly clinic.
• Referrals from neurologists and GPs.
…a truly multidisciplinary approach
to management !
The Ataxia Centre
The Ataxia Centre
…a truly multidisciplinary approach to
management !
• Support both during and between clinic visits
via the neurogenetic nurse. This nurse is
available to discuss medical, social or financial
queries.
• Close links with primary, community and
secondary care services for shared care and
education on the ataxias.
• Establishment of an ataxia database, facilitating
research.
• Validation of new genetic tests as they emerge.
The Ataxia Centre …a truly multidisciplinary approach to management!
Related Specialties….
Named consultants for: ENT, Cardiology, Neuro-ophthalmology,
Orthopedics, Neuro-psychiatry, Neuro-Psychology, Neuro-urology,
Neuro-electrophysiologist
Establishment of a holistic interdisciplinary clinic…
Where patients see Physiotherapists, Occupational Therapists and
Speech and Language Therapists and Neurologists in one clinic for a
personalised management programme
Other team members…
Neurogenetics specialist nurse, research nurse, research fellow, Ataxia
UK representative
PG203-PG204
Clinic Frequency
Feb 2005 1/ month
Oct 2005 2/ month
May 2006 1/ week
July 2013 2/ week
Patients seen per year
Feb 05/Jan06 62 patients
Feb 06/Jan07 170 patients
Feb07/Jan 08 229 patients
Feb 08/Jan 09 263 patients
Feb 09/Jan 10 300 patients
Feb 10/Jan11 420 patients
Feb 12/Jan13 540 patients
Feb 13/Jan14 630 patients
Feb 14/Jan 15 749 patients
Feb 15/Jan 16 818 patients
Success of the Ataxia clinic!
90.8%
1.8% 1.5%
0.7%
Is it beneficial to attend an Ataxia specific clinic?
Yes
No
Fairly
Not Sure
Patient Feedback 2010-2017
Data from surveys compiled by Ataxia UK
clinic evaluation Sep 2010- now
.
Yes 902 92.1%
No 1 0.1%
Fairly 12 1.2%
Incomplete Form/ NA 64 6.5%
No 23 2.8%
Yes 136 16.6%
Fairly 0 0.0%
Incomplete Form/ NA 659 80.6%
Patient Feedback 2010-2017
Data from surveys compiled by Ataxia UK
clinic evaluation Sep 2010- now
45.0%
50.3%
4.7%
Do you feel that you have received support and advice
between clinic appointments?
I haven't needed help
Yes I received advicewhen I needed it
No, I didn't receiveadvice when Ineeded it
I haven’t needed help 219 45.0%
Yes I received advice when 245 50.3%
I needed it
No, I didn’t receive advice 23 4.7%
when I needed it
397
26
Is the Care at this Clinic an
Improvement on Previous Care?
Improvement
Not an Improvement
Improvement 397 93.9%
Not an Improvement 26 6.1%
Patient Feedback 2010-2017
Data from surveys compiled by Ataxia UK
clinic evaluation Sep 2010- now
Reasons Patients Prefer Ataxia Clinics
0.00%
10.00%
20.00%
30.00%
40.00%
50.00%
60.00%
70.00%
80.00%
90.00%
100.00%
1 2 3 4 5 6 7 8 9
1 - Understanding of
Ataxia
2 - Confidence in
Neurologist
3 - Medical Advice on
Symptom Management
4 - Better able to Cope
5 - Precise Diagnosis
6 - Information about
Research
7 - Practical Advice about
Living with your
Condition
8 - Other
Data from response forms of 800 patients seen over the last
10 years
Success of Ataxia Centre/s
Improved care - 95%
improvement compared
to other clinics Data: London Ataxia Centre 2005- 2017
Research focus Large database
Expertise
Networks
Ataxia Guidelines of
best practice
Ataxia Centre multidisciplinary approach for
patients with rare and chronic conditions,
brings
• Quicker diagnosis
• Precise diagnosis
• More effective
management
• Cost reduction
• Improved patient
satisfaction
All this is due
to our tight
involvement in
research
Referral to Ataxia Centre
https://www.uclh.nhs.uk/HP/Howtorefer/Pages/Home
Support from the clinical team at the London ataxia centre…
Paralympic glory for NHS patient
THE LONDON ATAXIA PATIENTS ACHEIVEMENTS
Ain't no mountain high
enough for Ataxia patient