Swipe om te navigeren naar een ander artikel
Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and many held beliefs about genetic evaluation that did not align with guidelines. Barriers were lack of insurance coverage for genetic evaluation/testing and long wait times to see geneticists. Pediatricians with beliefs aligned with guidelines and those aware of the role of genetic counselors were more likely to adhere to guidelines. Efforts to educate pediatricians are needed along with system level solutions regarding availability of geneticists and reimbursement for genetic testing.
Log in om toegang te krijgen
Met onderstaand(e) abonnement(en) heeft u direct toegang:
AAP. (2012). Caring for children with autism spectrum disorders: A resourse toolkit for clinitians (2nd ed.). Elk Grove Village: American Academy of Pediatrics.
APA. (2013). Diagnostic and statistical manual of mental disorders: DSM-5 (5th ed.). Washington, DC: APA.
Barton, K. S., Tabor, H. K., Starks, H., Garrison, N. A., Laurino, M., & Burke, W. (2017). Pathways from autism spectrum disorder diagnosis to genetic testing. Genetics in Medicine. https://doi.org/10.1038/gim.2017.166.
Cuccaro, M. L., Czape, K., Alessandri, M., Lee, J., Deppen, A. R., Bendik, E., et al. (2014). Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD). American Journal of Medical Genetics Part A, 164A(10), 2592–2600. https://doi.org/10.1002/ajmg.a.36698. CrossRefPubMed
Li, M., Amuta, A., Xu, L., Dhar, S. U., Talwar, D., Jung, E., et al. (2016). Autism genetic testing information needs among parents of affected children: A qualitative study. Patient Education and Counseling. https://doi.org/10.1016/j.pec.2015.12.023. PubMedCentral
Miles, J. H. (2011). Autism spectrum disorders—a genetics review. Genetics in Medicine, 13(4), 278–294. https://doi.org/10.1097/GIM.0b013e3181ff67ba. CrossRefPubMed
Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., et al. (2011). Recurrence risk for autism spectrum disorders: A baby siblings research consortium study. Pediatrics, 128(3), e488–e495, https://doi.org/10.1542/peds.2010-2825..
Peabody, J., DeMaria, L., Tamandong-LaChica, D., Florentino, J., Acelajado, M. C., & Burgon, T. (2015). Low rates of genetic testing in children with developmental delays, intellectual disability, and autism spectrum disorders. Global Pediatric Health. https://doi.org/10.1177/2333794X15623717. PubMedPubMedCentral
Schaefer, G. B. (2016). Clinical genetic aspects of ASD spectrum disorders. International Journal of Molecular Sciences. https://doi.org/10.3390/ijms17020180.
Selkirk, C. G., McCarthy Veach, P., Lian, F., Schimmenti, L., & LeRoy, B. S. (2009). Parents’ perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors. The Journal of Genetic Counseling, 18(5), 507–519. https://doi.org/10.1007/s10897-009-9233-0. CrossRefPubMed
Tchaconas, A., & Adesman, A. (2017). Diagnostic evaluation of children with autism spectrum disorders: Clinician compliance with published guidelines. Journal of Developmental and Behavioral Pediatrics, 38(1), 29–38. https://doi.org/10.1097/DBP.0000000000000349. CrossRefPubMed
Wydeven, K., Kwan, A., Hardan, A. Y., & Bernstein, J. A. (2012). Underutilization of genetics services for autism: The importance of parental awareness and provider recommendation. The Journal of Genetic Counseling, 21(6), 803–813. CrossRef
- Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder
Karin M. Dent
Lorenzo D. Botto
Paul C. Young
Paul S. Carbone
- Springer US
- Journal of Autism and Developmental Disorders
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432