Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.

PURPOSE OF REVIEW: This review focuses on immunologic findings, relationships among immunologic findings and associated conditions of autoimmunity and atopy, and management of immunologic disease in chromosome 22q11.2 deletion syndrome (22q11.2DS, historically known as DiGeorge syndrome). RECENT FINDINGS: The implementation of assessment of T cell receptor excision circles (TRECs) in newborn screening has led to increased detection of 22q11.2 deletion syndrome. While not yet applied in clinical practice, cell-free DNA screening for 22q11.2DS also has the potential to improve early detection, which may benefit prompt evaluation and management. Multiple studies have further elucidated phenotypic features and potential biomarkers associated with immunologic outcomes, including the development of autoimmune disease and atopy. The clinical presentation of 22q11.2DS is highly variable particularly with respect to immunologic manifestations. Time to recovery of immune system abnormalities is not well-defined in current literature. An understanding of the underlying causes of immunologic changes found in 22q11.2DS, and the progression and evolution of immunologic changes over the lifespan have expanded over time and with improved survival. An included case highlights the variability of presentation and potential severity of T cell lymphopenia in partial DiGeorge syndrome and demonstrates successful spontaneous immune reconstitution in partial DiGeorge syndrome despite initial severe T cell lymphopenia.

Demographic and Risk-Factor Differences between Users and Non-Users of Unscheduled Healthcare among Pediatric Outpatients with Persistent Asthma.

This study assesses differences between users and non-users of unscheduled healthcare for persistent childhood asthma, with regard to select demographic and risk factors. The objectives are to provide important healthcare utilization information and a foundation for future research on self-management effectiveness (SME), informed by a recently developed "holistic framework" for measuring SME in childhood asthma. An 18-month retrospective chart review was conducted on 59 pediatric outpatients with persistent asthma-mild, moderate, or severe, to obtain data on various demographic and risk factors, and healthcare use for each child. The study examined five types of "unscheduled" healthcare use. Users had non-zero encounters (at least one) in any of the five types; non-users had zero encounters (not even one) in all five types. Differences between users and non-users were assessed using contingency table and logistic regression analysis. There were 25 users and 34 non-users of unscheduled healthcare. Each severity category contained users and non-users. The only statistically significant finding was that the mild persistent category had fewer users than severe persistent (p < 0.05). There were no significant differences between users and non-users for any other demographic or risk factor examined. After adjusting for asthma severity, there were no other significant differences between users and non-users of unscheduled healthcare. This is a crucial finding which suggests that something else is driving unscheduled healthcare use in these children, given there were users and non-users in each asthma severity category. These results provide impetus for future research on the role of other aspects of the "holistic framework" in explaining differences in uses of unscheduled healthcare in persistent childhood asthma.

Measurement of Key Constructs in a Holistic Framework for Assessing Self-Management Effectiveness of Pediatric Asthma.

The 2007 U.S. National Institutes of Health EPR-3 guidelines emphasize the importance creating a provider-patient partnership to enable patients/families to monitor and take control of their asthma, so that treatment can be adjusted as needed. However, major shortfalls continue to be reported in provider adherence to EPR-3 guidelines. For providers to be more engaged in asthma management, they need a comprehensive set of resources for measuring self-management effectiveness of asthma, which currently do not exist. In a previously published article in the Journal of Asthma and Allergy, the authors conducted a literature review, to develop a holistic framework for understanding self-management effectiveness of pediatric asthma. The essence of this framework, is that broad socioecological factors can influence self-agency (patient/family activation), to impact self-management effectiveness, in children with asthma. A component of socio-ecological factors of special relevance to providers, would be the quality of provider-patient/family communication on asthma management. Therefore, the framework encompasses three key constructs: (1) Provider-patient/family communication; (2) Patient/family activation; and (3) Self-management effectiveness. This paper conducts an integrative review of the literature, to identify existing, validated measures of the three key constructs, with a view to operationalizing the framework, and discussing its implications for asthma research and practice.