Increasing Primary Care Provider-Initiated Geneticist Referrals in 22q11.2 Deletion Syndrome

  • B. Bavette Miller Oklahoma State University Center for Health Sciences
Keywords: 22q, 22q Deletion Syndrome, DiGeorge Syndrome, Genetic Deletion, Physician Education, Geneticist Referral, Primary Care Education, Continuing Medical Education, Velofacial Cardiac Syndrome

Abstract

A 22q11.2 Deletion Syndrome (22q) diagnosis is relevant at any given time. With the barriers and quality of life concerns, it is important that a timely and accurate diagnosis is made. In order for this to occur, primary care providers should have the knowledge to properly assess the presenting abnormalities that may be found in a patient. Without a recognizable anomaly such as a heart disorder or palate deficiencies, individuals affected with 22q could live years without answers to critical health conditions. The lack of this diagnosis may cause additional medical conditions, even premature death. The purpose of this study was to measure primary care provider knowledge on 22q. Next, it was to examine the effect of education on the number of primary care initiated referrals when two or more known 22q anomalies are present. Many medical conditions associated with 22q are complex and complicated. Primary care providers in this research is defined as those physicians, medical residents, medical students, and other healthcare providers who attended the annual 2016 family practice spring conference in Tulsa, OK.

References

Bassett, A. S., McDonald-McGinn, D. M., Devriendt, K., Digilio, M. C., Goldenberg, P., Habel, A., & ... Vorstman, J. Practical guidelines for managing patients with 22q11.2 deletion syndrome. The Journal of Pediatrics. 2011;159(2), 332-9.e1

Shprintzen, R. J. Velo-cardio-facial syndrome: 30 Years of study. Developmental Disabilities Research Reviews. 2008;14(1), 3-10.

Fung W.L., Butcher N.J., Costain G., Andrade D.M., Boot E., Chow E.W., … Bassett A.S.. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genetics in Medicine. 2015;17, 599–609.

Robin, N. H. & Shprintzen, R. J.. Defining the clinical spectrum of deletion 22q11.2. The Journal of Pediatrics. 2005; 147(1), 90-96.

McDonald-McGinn D.M. & Sullivan K.E.. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Medicine (Baltimore). 2011; 90(1), 1-18.

Evers, L. M., van Amelsvoort, T. J., Candel, M. M., Boer, H., Engelen, J. M., & Curfs, L. G.. Psychopathology in adults with 22q11 deletion syndrome and moderate and severe intellectual disability. Journal of Intellectual Disability Research: JIDR. 2014; 58(10), 915-925.

Furuya, K., Sasaki, Y., Takeuchi, T., & Urita, Y. Characteristics of 22q11.2 deletion syndrome undiagnosed until adulthood: an example suggesting the importance of psychiatric manifestations. BMJ Case Reports. 2015; bcr2014208903.

Kaiser Family Foundation (2015). Total Professionally Active Physicians. Retrieved from http://kff.org/other/state-indicator/total-active-physicians/. Accessed November 20, 2016.

Creswell, John W. Research Design: Qualitative, Quantitative, and Mixed Methods Approaches. SAGE, 2014.

Cancrini, C., Puliafito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., … Rossi, P. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. The Journal of Pediatrics. 2014; 164(6), 1475–1480.e2.

Friedman, N., Rienstein, S., Yeshayahu, Y., Gothelf, D., & Somech, R. Post-childhood presentation and diagnosis of DiGeorge syndrome. Clinical Pediatrics. 2016; 55(4), 368–373.

Goodwin, J., Schoch, K., Shashi, V., Hooper, S. R., Morad, O., Zalevsky, M., & ... Campbell, L. E. A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders. Journal of Intellectual Disability Research: JIDR. 2015; 59(5), 474-486.

Goodwin, J., McCormack, L., & Campbell, L. E. “You don’t know until you get thereâ€: The positive and negative “lived†experience of parenting an adult child with 22q11.2 deletion syndrome. Health Psychology. 2017b; 36(1), 45–54.

Published
2019-11-08
Section
Medical