Lung Management

Lung (respiratory) care

It is not unusual for people with myotubular and centronuclear myopathies to experience breathing problems.  Mostly all children who present with symptoms of severe muscle weakness from birth will require support with their breathing for some hours of the day and/or night.

There are two ways that ventilation can be delivered, depending on how much support is needed:

• Invasive ventilation is when breathing support is delivered via a tracheostomy – a small incision by surgical procedure into the windpipe.
• Non-invasive ventilation is when breathing support is delivered via a nose or face mask.

Getting on top of breathing problems can really help to improve quality of life. It is especially important that children and young people have a good multidisciplinary team regularly involved in their breathing care, especially to help through periods of rapid growth or changes in physical ability. Older children and adults who have not previously needed breathing support are advised to be aware of the signs of poor breathing function. They will also need access to modern equipment to help them manage good airways clearance and maintain good breathing support.

PUBLICATIONS

Airways clearance techniques in neuromuscular disorders: a state of the art review (full version). This very welcome and long awaited resource is an international review of the best evidence available on airway clearance techniques in neuromuscular disorders. Written by a group of 21 international experts in this field, it is all encompassing in its review, from published research to patient case studies. (Open access sponsored by Myotubular Trust).

British Thoracic Society Guidelines for respiratory management of children with neuromuscular weakness (full version) Guidance written by members of the British Thoracic Society – respiratory consultants from all over the UK –
on best practice respiratory support advice to healthcare practitioners looking after children with neuromuscular conditions. (2012)

Guidance on breathing and non-invasive ventilation (NIV) for children from the age of two years old living with a neuromuscular condition This is a patient-friendly guide on non-invasive ventilation advice within the ‘British Thoracic Society Guidelines for respiratory management of children with neuromuscular weakness’. An NHS SWNODN publication, endorsed by NIHR Respiratory Biomedical Research Unit, Royal Brompton Hospital London. (Reviewed 2017)

Developing best practice guidelines for management of mouthpiece ventilation in neuromuscular disorders. 252nd ENMC international workshop (2020) written by an international group of respiratory professionals and patient organisations (including Myotubular Trust) to provide practical information and tools to help respiratory practitioners with their greater understanding for, and the successful delivery of mouthpiece ventilation to patients with neuromuscular conditions.

Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type This paper evidences use of positive pressure non-invasive ventilation (NIPPV) and cough assist (M-IE) in a cohort of children with SMA1 (spinal muscular atrophy type 1) to facilitate a transfer home.  SMA1 presents similarly to x-linked myotubular myopathy (XLMTM) however, XLMTM is non progressive so there are differences in expected outcomes. (2010)

Long Term Non-Invasive Ventilation in Children: Impact on Survival and Transition to Adult Care A paper by respiratory experts at the Royal Brompton Hospital in London on long term non-invasive ventilation in children moving to adulthood. (2015)

OTHER PUBLISHED RESOURCES

MYOTUBULAR MYOPATHY Facebook Group  (A private social media support group for anyone affected by myotubular and centronuclear myopathy)

Chronic Ventilator Roadmap, is a useful reference tool to help parents of children who are long-term ventilated in their transition from hospital to home.  You can find the roadmap within this publication, and how A Standardized Discharge Process Decreases Length of Stay for Ventilator-Dependent Children Baker et al (2015)

RESPIRATORY MEDICINE PRESENTATIONS

Please see the following presentations from respiratory experts on You Tube filmed at the Myotubular and Centronuclear Family Conference in UK in 2018:

Professor Anita Simonds
Consultant in Respiratory Medicine, Royal Brompton Hospital, London, UK

“Update on respiratory care: what’s new and what works”, watch now : https://youtu.be/4KxFFNonjwo

Click here to see Professor Anita Simond’s presentation (PDF).