SMA in infants: a new era for management

Summary

This webinar, hosted by Sue Thomas, an independent healthcare consultant, features an expert panel of speakers who all contributed to the development of the national SMA paediatric pathway itself.

It is intended to support improved understanding and awareness of SMA in healthcare professionals, and is a practical support to the paediatric pathway. With clear information surrounding SMA and its presentations, forms of treatment and management, and the importance of early detection, diagnosis and access to treatment, this webinar provides a 1-hour essential guide to SMA management.

The webinar opens with Consultant Paediatric Neurologist Vasantha Gowda providing a detailed overview of the condition and its genetic causes. She gives a clear summary of the medications now available and the trials supporting their use and highlights the necessity of early access to treatment, as the earlier they were treated, the better the children's outcomes.

Min Ong, paediatric neurology consultant goes on to demonstrate paediatric SMA in practice through a series of case studies looking at children with SMA. She presents the history, management and treatment of children in different scenarios and with different presentations.

The case studies each demonstrate the importance of early diagnosis, early treatment and early supportive management. Other key elements highlighted are:

• the use of genetic testing to confirm the diagnosis

• the need for a multidisciplinary approach needed, especially via therapists, including speech and language and physiotherapy

• the importance of connectivity across the range of specialists involved in a person with SMA's care.

Finally, Lisa Edel, Senior Specialist Paediatric Respiratory Neuromuscular Physiotherapist discusses the early identification of complications and respiratory management in children with SMA, particularly in SMA type 1, as the majority of respiratory challenges are found in this group.

Highlighting some of the core signs of respiratory difficulty in SMA and discussing what these look like and why they occur, Lisa addresses:

• general increased work of breathing

• a bell-shaped chest

• paradoxical breathing

• poor cough

• recurrent chest infections