Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
Abstract
:1. Introduction
2. Diagnostic Delay
- Classic IOPD patients—cardiac function, hearing, muscle strength and motor development were all impaired, one in three (36%) required supplemental oxygen and two in three (64%) required nasogastric tube feeding;
- LOPD patients—advanced muscle weakness and impaired respiratory function were present, causing varying degrees of handicap, and respiratory support (14% of adults) and use of a wheelchair (7% of adults) were required.
2.1. Barriers to Timely Diagnosis—Australian Perspectives
2.2. Diagnostic Delays—Australian IOPD Experiences
3. What Do We Know about NBS for PD?
- The development of promising new treatment options;
- Advances in screening technology;
- Advocacy by special interest groups.
3.1. Benefits of NBS for PD
3.1.1. Reduced Diagnostic Odyssey in IOPD
3.1.2. Greater Knowledge of Reproductive Risk
3.1.3. Improved Understanding of the True Prevalence of PD
3.2. What Have We Learnt from Current PD NBS Programs?
3.3. Impact on Immunomodulation Protocols
3.4. Weighing Prognostic Uncertainty against Informed Decision Making
3.4.1. False Positives
3.4.2. Early Identification of LOPD
“There is much that needs to be done to help people with rare diseases, particularly around raising awareness to the public and also medical professionals in order for early diagnosis and also correcting misdiagnosis to occur. Had I been diagnosed even in 1997 when I was 17 and received treatment as soon as it became available perhaps my life would be very different today.”
4. Specific Considerations for NBS in the Australian Setting
4.1. Current NBS Policies and Processes
4.2. Application to Include PD in the NBS
4.3. Access to Current Therapies in Australia
4.4. Potential Impact of Future Therapies
5. Conclusions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Age Group | Results | Reference |
---|---|---|
Adults | Time to diagnosis:
| Molster, 2016 [13] |
Children | Time to diagnosis:
| Zurynski, 2017 [12] |
Key Considerations:
|
Country and Region | Sample Size | Total Cases of IOPD | Total Cases of LOPD | Prevalence |
---|---|---|---|---|
Taiwan | 473,738 | 9 | 19 | 1/16,919 |
Austria * | 34,736 | 0 | 4 | 1/8684 |
Italy * | 3403 | 0 | 0 | - |
Hungary * | 40,024 | 7 | 2 | 1/4400 |
USA (State): | ||||
Illinois * | 166,463 | 2 | 9 | 1/15,133 |
Missouri | 269,500 | 4 | 20 | 1/11,229 |
Washington * | 154,544 | 0 | 5 | 1/31,000 |
New York | 390,000 | 1 | 30 | 1/165,000 |
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Saich, R.; Brown, R.; Collicoat, M.; Jenner, C.; Primmer, J.; Clancy, B.; Holland, T.; Krinks, S. Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective. Int. J. Neonatal Screen. 2020, 6, 1. https://doi.org/10.3390/ijns6010001
Saich R, Brown R, Collicoat M, Jenner C, Primmer J, Clancy B, Holland T, Krinks S. Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective. International Journal of Neonatal Screening. 2020; 6(1):1. https://doi.org/10.3390/ijns6010001
Chicago/Turabian StyleSaich, Raymond, Renee Brown, Maddy Collicoat, Catherine Jenner, Jenna Primmer, Beverley Clancy, Tarryn Holland, and Steven Krinks. 2020. "Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective" International Journal of Neonatal Screening 6, no. 1: 1. https://doi.org/10.3390/ijns6010001
APA StyleSaich, R., Brown, R., Collicoat, M., Jenner, C., Primmer, J., Clancy, B., Holland, T., & Krinks, S. (2020). Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective. International Journal of Neonatal Screening, 6(1), 1. https://doi.org/10.3390/ijns6010001