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Spinal Muscular Atrophy updates

The team at the Royal Children's Hospital presented a fantastic professional development day updating physios on current management for children with SMA. 

 

 

 

Spinal Muscular Atrophy (SMA) is a recessive genetic condition, causing progressive motor weakness. There are three types of SMA, which reflect the severity of the condition.

 

Huge strides have been made in recent years due to use of a new medication, Nusinersen, also known as Spinraza. We are now seeing children upright or walking where this was previously not possible. Children with SMA 1 who have been treated have now celebrated their third birthday, which was previously extremely rare.

 

The goals currently are to diagnose and begin treatment with both medial and and allied health professional care (physio, OT and speech pathology) as soon as possible. Medication can even be given before symptoms arise! This has been done for some siblings of children with SMA, though use of genetic testing. 

 

The goal is then to optimise function and independence in everyday life and to extend their life span. There is further research being conducted into less invasive, and also different, medical treatments. 

 

The team went through the changing way children with SMA are presenting when treated with Nusinersen; Standards of Care; respiratory, swallowing and scoliosis considerations; managing muscle length and 24 hour positioning; weakness and appropriate exercise prescription; the benefits of aquatic physiotherapy; outcome measures that can be used; referral processes. There was also discussion around how to advocate for children with SMA when writing reports to the NDIS and other funding bodies, such as in transitioning to school 

 

The team put a great deal of work into a fantastic day of presentations, and I am grateful for their time in sharing their udpates with the physiotherapy community.

 

Shayna Gavin is a physiotherapist who is passionate about helping babies, children and young people learn functional skills so they can participate in life at home, school and in their community. Recognising that children do best in their own environments,  she visits homes, schools, and leisure activities from football fields to ballet classes. She also has daily aquatic physiotherapy sessions available at two private swimming schools in Moonee Ponds and Greensborough, Melbourne. She combines principles of paediatric physiotherapy, Contemporary Neuro Developmental Treatment, motor learning, and swimming teaching to address the individual needs of each child and their family. She loves providing professional development to physiotherapists, allied health and education professionals, allied health assistants and swimming teachers. 

 

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