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Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study

Year 2024, Volume: 8 Issue: 2, 441 - 447, 31.05.2024
https://doi.org/10.30621/jbachs.1387268

Abstract

Background and Purpose: Early diagnosis of Spinal Muscular Atrophy (SMA) is crucial. This study assesses the awareness and attitudes toward SMA screening among individuals preparing for marriage.

Methods: This cross-sectional study was conducted in three family health centers in the central district of XXX from June to September 2023. A researcher-designed 15-item instrument was utilized to collect demographic data and assess knowledge and attitudes regarding SMA among participants aged 18-65, excluding those with a diagnosis of mental retardation.

Results: The study was participated in by 197 individuals, with an average age determined to be 29.45±7.48. The proportion of those supporting the implementation of SMA screening was 84.8% (n=167), while the intention to undergo the test was identified at 72.6% (n=143).

A significant relationship was found between the willingness to be tested and variables such as the level of education, absence of disabled close relatives, not considering SMA to be genetically inherited, finding screenings appropriate, the perceived impact of test results on marriage, and the belief that screening could not be conducted after marriage.

Conclusion: While most recognized SMA's severity, there's a notable deficit in understanding its preventability, suggesting the need for targeted educational interventions to enhance genetic screening uptake.

Ethical Statement

The research received ethical approval from the Erzincan Binali Yıldırım University Clinical Research Ethics Committee with the decision number 2023-08/4.

Supporting Institution

The authors declare that they have no financial or non-financial competing interests in relation to this manuscript

Thanks

none

References

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  • Lipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, et al. Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PLoS One. 2019;14(3):e0213680.
  • Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurologic clinics. 2015;33(4):831-46.
  • Wijngaarde CA, Stam M, Otto LA, van Eijk RP, Cuppen I, Veldhoen ES, et al. Population-based analysis of survival in spinal muscular atrophy. Neurology. 2020;94(15):e1634-e44.
  • Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of> 72 400 specimens. European journal of human genetics. 2012;20(1):27-32.
  • Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genetics in Medicine. 2002;4(1):20-6.
  • Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. American journal of medical genetics. 2002;110(4):301-7.
  • Lipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, et al. Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PLoS One. 2019;14(3):e0213680.
  • Monani UR. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron. 2005;48(6):885-95.
  • Meldrum C, Scott C, Swoboda KJ. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives. Journal of child neurology. 2007;22(8):1019-26.
  • Madlensky L, Trepanier AM, Cragun D, Lerner B, Shannon KM, Zierhut H. A rapid systematic review of outcomes studies in genetic counseling. Journal of genetic counseling. 2017;26(3):361-78.
  • Teo CH, Ng CJ, White A. Factors influencing young men's decision to undergo health screening in Malaysia: a qualitative study. BMJ open. 2017;7(3):e014364.
  • McCaul KD, Tulloch HE. Cancer screening decisions. JNCI Monographs. 1999;1999(25):52-8.
  • Prior TW. Spinal muscular atrophy: a time for screening. Current Opinion In Pediatrics. 2010;22(6):696-702.
  • Aro AR, Hakonen A, Hietala M, Lönnqvist J, Niemelä P, Peltonen L, et al. Acceptance of genetic testing in a general population: age, education and gender differences. Patient education counseling. 1997;32(1-2):41-9.
  • Hafertepen L, Pastorino A, Morman N, Snow J, Halaharvi D, Byrne L, et al. Barriers to genetic testing in newly diagnosed breast cancer patients: Do surgeons limit testing? The American Journal of Surgery. 2017;214(1):105-10.
  • Gaugler JE, Pavlik E, Salsman JM, Andrykowski MA. Psychological and behavioral impact of receipt of a “normal” ovarian cancer screening test. Preventive medicine. 2006;42(6):463-70.
  • Tacken MA, Braspenning JC, Hermens RP, Spreeuwenberg PM, Van Den Hoogen HJ, De Bakker DH, et al. Uptake of cervical cancer screening in The Netherlands is mainly influenced by women's beliefs about the screening and by the inviting organization. The European Journal of Public Health. 2007;17(2):178-85.

Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study

Year 2024, Volume: 8 Issue: 2, 441 - 447, 31.05.2024
https://doi.org/10.30621/jbachs.1387268

Abstract

References

  • Mercuri E, Sumner CJ, Muntoni F, Darras BT, Finkel RS. Spinal muscular atrophy. Nature Reviews Disease Primers. 2022;8(1):52.
  • Lipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, et al. Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PLoS One. 2019;14(3):e0213680.
  • Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurologic clinics. 2015;33(4):831-46.
  • Wijngaarde CA, Stam M, Otto LA, van Eijk RP, Cuppen I, Veldhoen ES, et al. Population-based analysis of survival in spinal muscular atrophy. Neurology. 2020;94(15):e1634-e44.
  • Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of> 72 400 specimens. European journal of human genetics. 2012;20(1):27-32.
  • Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genetics in Medicine. 2002;4(1):20-6.
  • Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. American journal of medical genetics. 2002;110(4):301-7.
  • Lipnick SL, Agniel DM, Aggarwal R, Makhortova NR, Finlayson SG, Brocato A, et al. Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PLoS One. 2019;14(3):e0213680.
  • Monani UR. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron. 2005;48(6):885-95.
  • Meldrum C, Scott C, Swoboda KJ. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives. Journal of child neurology. 2007;22(8):1019-26.
  • Madlensky L, Trepanier AM, Cragun D, Lerner B, Shannon KM, Zierhut H. A rapid systematic review of outcomes studies in genetic counseling. Journal of genetic counseling. 2017;26(3):361-78.
  • Teo CH, Ng CJ, White A. Factors influencing young men's decision to undergo health screening in Malaysia: a qualitative study. BMJ open. 2017;7(3):e014364.
  • McCaul KD, Tulloch HE. Cancer screening decisions. JNCI Monographs. 1999;1999(25):52-8.
  • Prior TW. Spinal muscular atrophy: a time for screening. Current Opinion In Pediatrics. 2010;22(6):696-702.
  • Aro AR, Hakonen A, Hietala M, Lönnqvist J, Niemelä P, Peltonen L, et al. Acceptance of genetic testing in a general population: age, education and gender differences. Patient education counseling. 1997;32(1-2):41-9.
  • Hafertepen L, Pastorino A, Morman N, Snow J, Halaharvi D, Byrne L, et al. Barriers to genetic testing in newly diagnosed breast cancer patients: Do surgeons limit testing? The American Journal of Surgery. 2017;214(1):105-10.
  • Gaugler JE, Pavlik E, Salsman JM, Andrykowski MA. Psychological and behavioral impact of receipt of a “normal” ovarian cancer screening test. Preventive medicine. 2006;42(6):463-70.
  • Tacken MA, Braspenning JC, Hermens RP, Spreeuwenberg PM, Van Den Hoogen HJ, De Bakker DH, et al. Uptake of cervical cancer screening in The Netherlands is mainly influenced by women's beliefs about the screening and by the inviting organization. The European Journal of Public Health. 2007;17(2):178-85.
There are 18 citations in total.

Details

Primary Language English
Subjects Clinical Sciences (Other)
Journal Section Research Article
Authors

Gadime Yanmaz 0000-0003-0722-5053

Ersan Gürsoy 0000-0002-5020-412X

Publication Date May 31, 2024
Submission Date November 7, 2023
Acceptance Date March 29, 2024
Published in Issue Year 2024 Volume: 8 Issue: 2

Cite

APA Yanmaz, G., & Gürsoy, E. (2024). Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study. Journal of Basic and Clinical Health Sciences, 8(2), 441-447. https://doi.org/10.30621/jbachs.1387268
AMA Yanmaz G, Gürsoy E. Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study. JBACHS. May 2024;8(2):441-447. doi:10.30621/jbachs.1387268
Chicago Yanmaz, Gadime, and Ersan Gürsoy. “Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study”. Journal of Basic and Clinical Health Sciences 8, no. 2 (May 2024): 441-47. https://doi.org/10.30621/jbachs.1387268.
EndNote Yanmaz G, Gürsoy E (May 1, 2024) Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study. Journal of Basic and Clinical Health Sciences 8 2 441–447.
IEEE G. Yanmaz and E. Gürsoy, “Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study”, JBACHS, vol. 8, no. 2, pp. 441–447, 2024, doi: 10.30621/jbachs.1387268.
ISNAD Yanmaz, Gadime - Gürsoy, Ersan. “Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study”. Journal of Basic and Clinical Health Sciences 8/2 (May 2024), 441-447. https://doi.org/10.30621/jbachs.1387268.
JAMA Yanmaz G, Gürsoy E. Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study. JBACHS. 2024;8:441–447.
MLA Yanmaz, Gadime and Ersan Gürsoy. “Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study”. Journal of Basic and Clinical Health Sciences, vol. 8, no. 2, 2024, pp. 441-7, doi:10.30621/jbachs.1387268.
Vancouver Yanmaz G, Gürsoy E. Knowledge and Awareness of Spinal Muscular Atrophy in Pre-Marital Health Screenings: A Cross-Sectional Study. JBACHS. 2024;8(2):441-7.