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