Related Experiment Video
Updated: Jan 5, 2026
Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
Published on: May 11, 2018
The implementation of newborn screening for spinal muscular atrophy: the Australian experience
Didu S T Kariyawasam1,2, Jacqueline S Russell3, Veronica Wiley4,5
1Department of Neurology, Sydney Children's Hospital, Randwick, Sydney, NSW, Australia. didu.kariyawasam@health.nsw.gov.au.
Insights
Australia's first statewide newborn screening for spinal muscular atrophy (SMA) program demonstrates essential clinical utility. Early identification and management of SMA in newborns are vital for timely intervention and improved outcomes.
Area of Science:
- Genetics
- Pediatrics
- Public Health
Background:
- Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder.
- Newborn screening (NBS) offers a critical opportunity for early detection and intervention.
- The implementation of a statewide NBS program for SMA in Australia marks a significant advancement in pediatric care.
Purpose of the Study:
- To evaluate the implementation of Australia's first statewide newborn screening program for spinal muscular atrophy (SMA).
- To appraise processes that support and hinder the clinical development, translation, and sustainability of this primary genetic screening program.
Main Methods:
- Prospective description of the clinical course for SMA screen-positive newborns in New South Wales and Australian Capital Territory.
- Data collection from August 1, 2018, to July 31, 2019, covering timelines, health processes, and preliminary clinical outcomes.
- Analysis of screening results, genetic confirmation, clinical evolution, and time to care plan implementation.
Main Results:
- 103,903 newborns were screened in the first year, with 10 testing positive for SMA.
- Genetic confirmation of SMA was achieved in 90% of screen-positive infants.
- Median time to care plan implementation, including disease-modifying therapies, was 26.5 days from birth; 44% showed clinical signs within 4 weeks.
Conclusions:
- Newborn screening (NBS) is crucial for early and equitable identification of SMA patients.
- Prompt diagnosis and management are vital due to potentially brief disease latency.
- NBS demonstrates significant clinical utility, aiding parental decision-making, specialist access, and personalized therapy initiation.
Purpose:
To evaluate the implementation of the first statewide newborn screening (NBS) program for spinal muscular atrophy (SMA) in Australia. Processes that hinder and support clinical development, translation, and sustainability of the first primary genetic screening program in Australia are appraised.
Methods:
The study prospectively describes the course (timelines, health processes, and preliminary clinical outcomes) for SMA screen-positive newborns from 1 August 2018 to 31 July 2019 in New South Wales and Australian Capital Territory, Australia.
Results:
In the first year of the program, 103,903 newborns were screened. Ten newborns screened positive for SMA. Genetic confirmation of SMA occurred in 9/10 (90%) of infants. Clinical signs of SMA evolved in 4/9 (44%) within 4 weeks of life, heralded by hypotonia and weakness initially recognized in the neck. Median time to implementing a care plan (including commencement of disease-modifying therapies) was 26.5 days (16-37 days) from birth.
Conclusion:
NBS is essential for early and equitable identification of patients with SMA. Expedient diagnosis and management are vital, as disease latency appears brief in some cases. NBS shows significant clinical utility to support early parental decision making, improve access to specialist neuromuscular expertise, and facilitate initiation of personalized therapeutic strategies.
