Introducing ataxia and Ataxia UK

Ataxia is a group of rare neurological disorders that affect coordination, balance and speech. People with ataxia often have difficulties with balance and walking, speaking, swallowing, vision, and tasks that involve a high degree of control. There are many different types of ataxia – some are acquired whereas some are hereditary (see the NHS Choices ataxia page for more information).

Ataxia UK is a registered charity whose vision is a world free of ataxia. They fund research into finding treatments and cures, and offer advice, information and support.

The third edition of the ataxia guideline

For many ataxias, there are no curative treatments available however, there are interventions to treat specific symptoms. In 2016, Ataxia UK led the development of the third edition of the ataxia medical guideline which provides a list of evidence-based recommendations for these interventions. It is aimed at healthcare professionals (HCPs) to improve awareness of the condition and to support appropriate treatment and care for patients.

As a complex group of disorders, it is important to distinguish between the different types of ataxia in medical guidelines. Ataxia UK divided medical intervention recommendations into the following sections:

● Symptomatic treatments – further sub-divided into specific symptoms, such as muscle spasticity, tremor, dystonia and scoliosis.

● Treatable ataxias – further sub-divided into specific types of treatable ataxias, such as gluten ataxia and Niemann-Pick type C.

● Treatable causes in children – further sub-divided into specific treatable causes in children, such as biotinidase deficiency and pyruvate dehydrogenase deficiency.

As well as medical intervention recommendations, the guideline also provided guidance on diagnosis, patient pathways, allied health professional interventions, palliative care, and future research. See below for the full list of contents.

How did Ataxia UK get to the finished version?

The Committee: Guideline Development Group

Ataxia UK formed a Guideline Development Group to oversee the medical guideline process. There were five members of the Guideline Development Group, including the Ataxia UK Research Manager, two neurologists, an ataxia patient, and an Ataxia UK trustee (also a parent of an ataxia patient).

The Guideline Development Group was responsible for coordinating and reviewing information sent in by over 30 ‘Specialist Contributors’. This group was initially formed from the 12 members of Ataxia UK’s Medical Advisory Board, who then reached out to other known clinicians. Ataxia UK endeavoured to invite a cohort with a diverse clinical expertise and a wide geographical spread across the UK. These contributors were requested to review published literature related to their specialism and submitted summaries based on best practice.

The scope: changes from the previous version

As well as suggesting updates to the guidelines, new sections were also suggested by medical professionals and patients based on their experience. For instance, the decision to include new sections on palliative care and on nutrition was based on feedback from patients on the second version of the guidelines.

Evidence analysis

Ataxia UK analysed evidence submitted by their contributors in a two-stage process:

1. Identification of the level of evidence for each intervention. Each piece of evidence was rated from I to IV, described in the image below and based on the Guideline International Network Criteria.
2. Grading the recommendations for the interventions based on the quality of evidence, rated from A to GPP. This rating scale was adapted by Ataxia UK from the I to IV Guideline International Network Criteria as described in the previous stage of evidence analysis.

Page 6 of the guideline explains what each point of the I-IV and A-GPP scales corresponds to:

This grading system was used to make the document easier for HCPs and patients to make informed decisions about the patient’s care and treatment. For instance, this set of recommendations is taken from page 27 of the guideline, focusing on scoliosis. You can see that the recommendation is graded according to the evidence used to generate it:

Where no published data existed, recommendations were based on data related to similar conditions, such as multiple sclerosis, or based on expert consensus.

Of the 128 recommendations made, six were graded B, seven were graded C, 10 were graded D and 105 were graded GPP. Some recommendations could not be graded using this methodology so were graded GPP by default. For instance, genetic testing is carried out when the NHS refers patients to genetic labs, and while this action is self-evident and strongly endorsed, there is no published literature to inform this decision.

Analysing existing evidence allowed the team to identify any gaps in current ataxia literature. This has helped them to identify key areas for future research.

Challenges

Writing the third edition of the ataxia guideline wasn’t a simple task! Julie explained that the key challenges were:

• The size of the document was very large and therefore coordination of writing and revision of sections was challenging.
• The process was very time consuming.
• It was difficult to identify specialists with the knowledge and expertise required.
• Arranging meetings of the Guideline Development Group and the Specialist Contributors was logistically challenging.

Julie stressed that medical guidelines cannot be developed without collaborative working. Input is required from a range of stakeholders, including specialists working in multiple medical areas.

Dissemination

Ataxia UK disseminated their completed guideline in the following ways:

• The full document is available to download on the Ataxia UK website. The sections have also been broken into separate webpages (designed by Costello Medical) to improve accessibility.
• Patients and carers can request printed copies to be sent to them to give to their GPs and consultants.
• The guideline has been published in scientific journals:

– Orphanet Journal of Rare Diseases: De Silva et al. 2019

– Practical Neurology: De Silva et al. 2019

• Guidelines were presented to a range of professional bodies, such as the College of Occupational Therapists, the Association of British Neurologists, and the Society of Physiotherapy.
• Because the guideline is expensive to print, Ataxia UK also developed a leaflet to point people in the direction of the online version.
• Working with an organisation called ‘Guidelines’, Ataxia UK also developed a 3-page summary for GPs. ‘Guidelines’ made the document available to their registry, before providing a PDF version to Ataxia UK after three months.

Moving forward

Ataxia UK have sought feedback from patients/families and healthcare professionals to understand the impact of the guidelines, and have invited the submission of new ideas and evidence ready for the next edition.

Ataxia UK is planning to review and update each section individually rather than updating the guideline in its entirety. They also hope to include two additional sections in the next edition on fatigue and mental health.

Although their current guideline isn’t NICE approved, Ataxia UK are hoping to ensure that the fourth edition will be developed following the NICE structure and recommendations more strictly, so that NICE-accredited guidelines are available for this group of disorders.