Medicine & Health School of Clinical Medicine

Newborn screening for spinal muscular atrophy

Guidelines for Australia and New Zealand

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The National Committee for Newborn Screening in Spinal Muscular Atrophy (Australia and New Zealand) are inviting feedback on the following Guideline:

National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand.

What is the Guideline about

This Guideline provides advice and information to everyone working to screen, diagnose and care for children and their families through the process of newborn screening for spinal muscular atrophy. This includes for approved providers, service leaders, educators and other staff as well as families with children who screen positive for SMA through newborn screening.

The Guideline has been developed by a range of people who have knowledge and skills in (newborn) screening, diagnosis and clinical care of children with SMA. Importantly the Guideline has been developed with consumer involvement with parents of affected children and patient advocates.

The Guideline is meant to reflect the healthcare journey of a child who screens positive for SMA from newborn screening in Australia and New Zealand. It includes key stages of:

  1. Screening for SMA
  2. Diagnosis post screening 
  3. Post diagnosis assessment, care and treatment of children confirmed to have SMA through newborn screening
  4. Information and support for families

How can I make a submission

If you would like to provide feedback, submissions should be made via the online form.

The online forms are in the style of free responses (open ended feedback) to each stage of the Guideline as above and a box for additional comments. 

You do not have to respond to all questions. Please focus on the topics of most interest to you and/or your organisation.

Where possible, please refer to the relevant line and page number of the relevant draft PDF when providing comments.

The form will be open for feedback from 9am 12th August 2024 to 5pm 23rd September 2024 (6 weeks) AEST. Unfortunately we cannot accept late submissions.
The Guideline

National Recommendation for Newborn Screening in Spinal Muscular Atrophy - the Guideline explains to healthcare practitioners involved in (newborn) screening, diagnostics and clinical care of newborns and infants with SMA, how to practice in ways that are accurate, timely and helpful to individuals with the condition and their families.

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Technical and administrative report

This report details the processes used to develop the Guideline  The report includes information on our funding source, who and how we developed the Guideline and how we invited your feedback. In this report we also detail information on how the evidence was gathered, put together and assessed for quality and graded.

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Family fact sheet - brief overview

This report details key findings from the Guideline for a family perspective. It is used to summarise the data and give families an overview of how the Guideline was developed and what the recommendations mean for them.

Brief summary

A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"

A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"

A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"

A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"

A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"

A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"

A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"

A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"

A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"
A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"
A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"
A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"
A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"
A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"
A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"
A page from a summary document titled "National Recommendations for Newborn Screening in Spinal Muscular Atrophy in Australia and New Zealand"

Contact us

Dr Didu (Sandi Kariyawasam) and Professor Michelle Farrar are co-leads of the Guidance Development Group for National Newborn Screening in SMA.