Author: Whited, T.
Abstract
DiGeorge Syndrome, also referred to as 22q11.2 deletion syndrome, is the most common microdeletion syndrome in humans (Kuo, Signer & Saitta, 2018) It affects ~ 1 in 2,000-4,000 live births worldwide (McDonald-McGinn, 2018). DiGeorge has variable phenotypic expression. Multiple systems can be affected including the heart, genitourinary tract, thymus, parthyroid, palate, and musculoskeletal systems (Sullivan, 2019). Patients with DiGeorge syndrome can have developmental delays, learning disabilities, and psychiatric illness (Batavia et al., 2019).
Due the variable expression of DiGeorge Syndrome, the patient should have appropriate work up, diagnosis and management to allow them to reach their full potential. The literature has identified multiple interventions for the diagnosis and care of these special children including management of heart disease, developmental screenings, early intervention, management of immunodeficiencies, and long term care (McDonald-McGinn, 2018; Sullivan, 2019; Swillen & McDonald-McGinn, 2015).
This interactive session using the audience response system will assist providers in identifying the latest recommendations related to DiGeorge Syndrome. The session will discuss the key components in caring for children with DiGeorge Syndrome and ways to maximize their potential. Finally, the session will focus on the nurse practitioners role in caring for children and adolescents with DiGeorge Syndrome. Pediatric Nurse Practitioners need to be prepared to care for these challenging but wonderful patients.
References
Batavia, J. Crowley, T., Burrows, E. Zackai, E., Shanna-Cherchi, S., McDonald-McGinn, D. & Kolon, T. (2019). Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome. American Journal of Medical Genetics Part A, 179 (a), 381-385. doi: 10.1002/ajmg.a.61020
Kuo, C., Signer, R. & Saitta, S. (2018). Immune and genetic features of the chromosome 22q11.2 deletion (DiGeorge Syndrome). Current Allergy and Asthma Reports, 18 (2018), 75-82. doi: 10.1007/s11882-018-0823-5
McDonald-McGinn, D. (2018). 22q11.2 deletion syndrome: A tiny piece leading to a big picture. American Journal of Medical Genetics, 176(10), 2055-2057. doi: 10.1002/ajmg.a.40653
Sullivan, K. (2019). Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Immunological Reviews, 287(2019), 186-201. doi: 10.1111/imr.12701
Swillen, A. & McDonald-McGinn, D. (2015). Developmental trajectories in 22q11.2 deletion. American Journal of Medical Genetics Part C, 169(C), 172-181. doi: 10.1002/ajmg.c.31435
Conference/Symposium/Course name, dates and location where the work was supposed to be presented:
NAPNAP National Conference 2020. March 26th. Long Beach California