Patient care & support

RCPCH Hosts an Evening of Evidence for NMDs and Launches eLearning Tool to Improve Diagnosis

On Monday 5th March RCPCH held an Evening of Evidence which focussed on the early diagnosis of Neuromuscular diseases. The evening was built around the launch of their new eLearning module. The eLearning module is aimed at healthcare professionals to educate them on the early signs and symptoms of neuromuscular diseases, with an aim to reduce the average age of diagnosis of neuromuscular diseases.

Dr Henriette Van Ruiten, from Newcastle, spoke about why diagnosis is delayed and what we can do to change this. Each neuromuscular disease may be classed as rare, but there are around 70,000 people in the UK who suffer with one. Late diagnosis is prevalent in all neuromuscular diseases. Because NMDs are progressive illnesses, there is a huge benefit to patients who have early diagnoses. Early diagnosis is not only helpful in terms of treatment and preventing muscle deterioration, but allows for family planning and alleviates anxiety for parents and families.

The average age of diagnosis for Duchenne muscular dystrophy in 1978 was reported as 5.7 years in a paper by Gardner-Medwin. This paper stressed the importance of early diagnosis and suggested a routine CK test for any boy not walking by the age of 18 months. In 2014, the average age of diagnosis had only reduced to 4.3 years, despite huge progress in the understanding of DMD. Diagnosis of NMDs is delayed because of lack of awareness, pressures on primary care and a lack of assessment of children’s motor development. Dr Van Ruiten concluded that to reduce diagnosis age we need to communicate with primary care, improve the assessment of child motor development and to utilise the CK test for diagnosis.

Professor Victor Dubowitz, the founder of World Muscle Society and the journal Neuromuscular disorders, gave up a talk through his more than 60 years’ experience in the field of neuromuscular diseases. Professor Dubowitz gave an overview of how the field of DMD has evolved throughout his long and rich career. Huge milestones include the introduction of steroids, physiotherapy and orthoses.

Michaela Guglieria then gave an overview of the recent advances in care and therapies for neuromuscular diseases. Better care and increased research has improved quality of life for DMD patients and families, as well as improved disease outcomes. The introduction of standards of care for DMD has provided a guide for healthcare professionals to ensure all patients are receiving the best care possible. The recently updated 2018 standards of care also now include adult care, which demonstrates the advances in care as some years ago these were not deemed necessary. Michaela Guglieria concluded that early diagnosis and early intervention with treatments such as steroids provides between short term and long term benefits. Early diagnosis gives more opportunities to clinical trials and improved quality of life.

The evening then ended with the launch of the eLearning module. The resource has open access for all health visitors, nurses, school nurses, paediatric physiotherapists, GPs, paediatricians and any HCTs involved in assess child health.

The Recognising Neuromuscular Disorders eLearning module is now live on the RCPCH Compass. To access the module, follow this link: https://rcpch.learningpool.com/login/index.php

Please find below a press release about a project launched today which has developed an e-learning tool to improve diagnosis rates of Neuromuscular diseases. It will have particular importance for improving the age of diagnosis for DMD. This is launched by the RCPCH in partnership with the John Walton Muscular Dystrophy Research Centre in Newcastle and the Great North Children's Hospital:

Doctors launch ‘game-changing’ new eLearning tool to help identify muscle degenerative disorders

The lives of thousands of children who suffer debilitating muscle degenerative disorders could be dramatically enhanced as doctors launch a new tool that opens the door to treatment before conditions fully take hold.

The new eLearning resource, launched today by the Royal College of Paediatrics and Child Health (RCPCH), aims to equip health professionals with the information to identify conditions such as Duchenne muscular dystrophy and spinal muscular atrophy at the earliest opportunity. This will allow treatment to begin much earlier which will in turn, enhance mobility, prolong life and allow family members to be tested to assess the risk of passing the condition on to future generations.

In the UK, more than 70,000 people have muscular dystrophy or a related condition. Doctors say this new resource, aimed at health visitors, GPs, nurses and physiotherapists will void the gap of knowledge that currently exists and will finally enable awareness to catch up with the science.

Dr Henriette van Ruiten of the RCPCH said:

'For several years, these rare genetic diseases have been considered without a treatment, but just last year, revolutionary new drugs have been approved that if used early – from as young as three months old in some conditions – have the power to greatly enhance muscle strength, improve quality of life and survival. However, early diagnosis is key, the longer diagnosis is left, the more the muscles are damaged and the more severe the condition becomes. This makes treatments less effective.

This new eLearning program can be used worldwide to help health professionals spot the early signs of muscle disorders. Only with early diagnosis can patients gain quick access to the new drugs and trials on offer and this will ultimately improve outcomes.'

The RCPCH, in partnership with the John Walton Muscular Dystrophy Research Centre in Newcastle and the Great North Children’s Hospital, has developed the eLearning tool which comprises clear and easily understandable video footage of normal and abnormal development. It also provides clear action points at five key stages of motor development that will give the user confidence in knowing how to identify a child at risk and what to do next.

Dr Michela Guglieri, Clinical Trial Leader at the John Walton Muscular Dystrophy Research Centre, said:

'Over the last 10 years clinical research has been moving fast in the field with several new investigational drugs, including gene therapy currently tested in clinical trials. These offer real hope for the future. Despite this, several studies have shown that there is still a delay in identifying and diagnosing these conditions. Not just here in the UK but in other countries including the United States. Early access to care combined with research has the power to enhance quality of life for patients and their families. We know the science exists but we now need to support healthcare professionals to ensure these families get the opportunity to benefit from it.'

Dr Henriette van Ruiten continues:

'For the last 30 years we have been trying to lower the age at which muscle disorders are diagnosed but we have had no success. This new eLearning tool is a game changer. We have teamed up with health visitors, physiotherapists, GPs and nurses to create a tool to help assess child (motor) development in the community. It will aid in recognising the red flags in motor development which are often a first sign of a muscle disorders.

I urge all health professionals to visit RCPCH Learning Pool, learn the signs and help improve the quality of a child’s life today.'



The original press release can also be found on the RCPCH website.

Published on 3 May 2018

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