Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA)
| Autor: | Lisa Belter, Rosangel Cruz, Jill Jarecki, Mary K. Schroth, Megan Lenz, Mary Curry |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Neuromuscular disease Referral Early signs RJ1-570 Muscular Atrophy Spinal 03 medical and health sciences 0302 clinical medicine Atrophy 030225 pediatrics medicine Humans Mass Screening Genetic Testing Pediatricians Child Referral and Consultation Genetic testing Cause of death medicine.diagnostic_test business.industry Infant Spinal muscular atrophy medicine.disease SMA United States Pediatrics Perinatology and Child Health business 030217 neurology & neurosurgery Research Article |
| Zdroj: | BMC Pediatrics BMC Pediatrics, Vol 21, Iss 1, Pp 1-13 (2021) |
| ISSN: | 1471-2431 |
| Popis: | Background Spinal Muscular Atrophy (SMA), a leading genetic cause of death in infants, is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. While early diagnosis of SMA is critical to modifying disease progression and improving outcomes, serious diagnostic delays persist. There is a need to improve SMA awareness, screening, and referral patterns. Methods Two online surveys, developed by Cure SMA for general pediatricians, were distributed by Medscape Education via email (September 2018, n = 300, December 2019, n = 600). The surveys asked about adherence to the American Academy of Pediatrics (AAP) developmental screening and surveillance guidelines, comfort with identification of early signs of neuromuscular disease (NMD), familiarity with SMA, and barriers to timely referral. Results In 2018, 70.3% of survey respondents indicated comfort in identifying early signs of NMD and 67.3% noted familiarity with SMA. 52.7% correctly indicated the need for genetic testing to make a definitive diagnosis of SMA, 74.0% meet or exceed developmental screening recommendations, and 52.0% said they would immediately refer to a specialist. In 2019, with a larger sample, 73.0% adhere to developmental screening guidelines, and awareness of the genetic testing requirement for SMA was significantly lower by 7.7% (p Conclusions Many pediatricians underutilize developmental screening tools and lack familiarity with diagnostic requirements for SMA. Continuing efforts to expand awareness and remove barriers to timely referral to SMA specialists, including reducing appointment wait times, are needed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink