Spinal Muscular Atrophy Carrier Screening Program: Awareness and Attitude of Healthcare Professionals in Turkey Article Swipe
Kübra Müge Çelik
,
Canan Ceylan Köse
,
Dilaver Kaya
,
Koray Tekin
,
Fatma Sılan
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-4716412/v1
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-4716412/v1
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by mutations in the SMN1 gene, leading to progressive muscle weakness. The global incidence of SMA is approximately 1–3 per 10,000 live births, and the carrier frequency of SMN1 gene mutations is estimated to be about 1 in 50 individuals. In response to increasing carrier rates, especially due to consanguineous marriages, Turkey launched the SMA Carrier Screening Program in 2021. Considering that recent SMA cases have emerged among healthcare workers, we aimed to evaluate their awareness of this program. After receiving ethics approval, 1,322 healthcare professionals completed a 15-item survey based on the SMA Carrier Screening Guidelines. Of these, 5.8% were unaware of SMA, and 26% lacked information about the national screening program. Awareness of the screening program was significantly lower among secondary and tertiary healthcare professionals compared to primary healthcare professionals (p < 0.0001), and among non-physician healthcare professionals compared to physician (p < 0.0001). Additionally, a serious lack of information was observed concerning the parts of the screening covering the pregnancy period. Although there is generally high awareness of the SMA Carrier Screening Program among healthcare professionals, significant knowledge gaps exist. These findings highlight the need for increased efforts to more effectively deliver screening programs and continue the education of healthcare professionals. Education and awareness campaigns can enhance program awareness and effectiveness, reach wider audiences, and contribute to preventive measures for the health of future generations.
Related Topics
Concepts
SMN1
SMA*
Spinal muscular atrophy
Health care
Medicine
Health professionals
Family medicine
Carrier testing
Disease
Pregnancy
Pathology
Prenatal diagnosis
Political science
Mathematics
Genetics
Law
Combinatorics
Fetus
Biology
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.21203/rs.3.rs-4716412/v1
- https://www.researchsquare.com/article/rs-4716412/latest.pdf
- OA Status
- gold
- References
- 24
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4401509628
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4401509628Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.21203/rs.3.rs-4716412/v1Digital Object Identifier
- Title
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Spinal Muscular Atrophy Carrier Screening Program: Awareness and Attitude of Healthcare Professionals in TurkeyWork title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-08-12Full publication date if available
- Authors
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Kübra Müge Çelik, Canan Ceylan Köse, Dilaver Kaya, Koray Tekin, Fatma SılanList of authors in order
- Landing page
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https://doi.org/10.21203/rs.3.rs-4716412/v1Publisher landing page
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https://www.researchsquare.com/article/rs-4716412/latest.pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://www.researchsquare.com/article/rs-4716412/latest.pdfDirect OA link when available
- Concepts
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SMN1, SMA*, Spinal muscular atrophy, Health care, Medicine, Health professionals, Family medicine, Carrier testing, Disease, Pregnancy, Pathology, Prenatal diagnosis, Political science, Mathematics, Genetics, Law, Combinatorics, Fetus, BiologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
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24Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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