Search

Background: 22q11.2 Deletion Syndrome (22q11.2DS) can result in array of congenital abnormalities including immune dysfunction. International guidelines recommend immune evaluation of 22q11.2DS patients prior to live vaccine administration. A rotavirus vaccination program for infants aged 2 and 4 months was implemented in British Columbia (BC) in 2012. Adherence to immune workup recommendations prior to 2 months of age in patients with 22q11.2DS and adverse events following immunization is not known. Methods: A retrospective chart review of children diagnosed with 22q11.2DS in BC from January 1, 2012 to January 1, 2019 was conducted. Demographic, clinical, laboratory, immunization data and adverse reactions to vaccines were obtained. International guidelines were used as a reference for adherence to immunologic workup recommendations. Results: Forty-two children with 22q11.2DS were included. Immunization records were available for 39 children, and 22 (52.3%) received at least one dose of a live rotavirus vaccine. No adverse events following immunization were noted in clinical records. While 25 out of 27 (92.6%) of patients who received an immunological workup had a CD4 + lymphocyte count to qualify for safe administration of a live vaccination, only 12 (44%) received the Rotavirus vaccine. Of 22 infants diagnosed with 22q11.DS prior to 8 weeks of age, only ten (45.5%) received an immune workup before the rotavirus vaccine. Conclusions: The majority of our infant cohort did not receive medical care consistent with international 22q11.2DS vaccination and immunological surveillance recommendations. More effective dissemination of 22q11.2DS guidelines and improved immunological assessment for infants with 22q11.2DS in BC is necessary. [ABSTRACT FROM AUTHOR]

Background: Patients diagnosed with 22q11.2 deletion syndrome, also known as 22q11DS or DiGeorge syndrome, have a diverse array of congenital anomalies and chronic health conditions. Because no study has reported on the coordination of multidisciplinary health services in British Columbia required by individuals with 22q11DS, we set out to determine which health care services these patients access and what barriers in health informatics affect institutional and provincial data sharing. Methods: A retrospective review of patient care at BC Children's Hospital (BCCH) was conducted using the provincial discharge abstract database and databases from hospital specialty services involved in the care of patients with 22q11DS. Data were collected for patients seen at the hospital from April 2001 to March 2018. This 17-year review considered patient age at diagnosis, distribution of patient ages within the study cohort, number and type of specialty services accessed, and length of follow-up. Results: A total of 293 patients with 22q11DS were identified from the hospital discharge abstract databases (DAD) and seven BCCH specialty clinic databases. Data could not be retrieved from some clinic databases due to coding and reporting discrepancies, which prevented the amalgamation of data from all hospital specialty services. Data from the DAD and seven BC Children's Hospital specialty services were then amalgamated, and duplicates were removed to identify 293 unique patients with 22q11DS. On average, patients accessed five services, with 13 new patients being seen each year and followed for an average of 7 years. Most of the pediatric care was provided by the Cleft Palate/ Craniofacial Program, Cardiology, Endocrinology, and Otolaryngology. Using BC Women's Hospital Medical Genetics 22q11DS data (n = 400), we were able to corroborate the size of our study cohort and to estimate the prevalence of 22q11DS in BC for the study period. Conclusions: Barriers to data retrieval and sharing at institutional and provincial levels were found to limit care coordination for patients with 22q11DS, who require ongoing, complex, multidisciplinary management. Incongruent and incomplete data systems in BC are hindering our ability to provide this coordinated care and plan transition, leaving us without the evidence needed by provincial health care providers, local experts, policymakers, and national and international 22q11DS research centres. [ABSTRACT FROM AUTHOR]