Health in Down syndrome: creating a conceptual model.

BACKGROUND: Down syndrome (DS) has a unique medical and psychological profile that could impact how health is defined on three dimensions: physical, social and mental well-being. METHODS: In 2021, we presented our proposed conceptual model to three expert panels, four focus groups of parents of individuals with DS age 0-21 years and four focus groups of individuals with DS age 13-21 years through videoconferencing technology. Participants gave feedback and discussed the concept of health in DS. RESULTS: Feedback from participants resulted in iterative refinement of our model, retaining the three dimensions of health, and modifying constructs within those dimensions. Experts and parents agreed that individuals with DS have unique health concerns that necessitate the creation and validation of a syndrome-specific health model. We present key themes that we identified and a final conceptual model of health for individuals with DS. CONCLUSION: Health in DS is a multi-dimensional, multi-construct model focused on relevant constructs of causal and effect indicators. This conceptual model can be used in future research to develop a syndrome-specific measure of health status.

Allogeneic bone marrow transplant in pediatric patients with high-risk hematopoietic malignancies early in the course of their disease.

PURPOSE: The purpose of this study was to investigate the role of bone marrow transplant (BMT) early in the course of disease for pediatric patients with high-risk leukemia using a preparatory regimen of fractionated total body irradiation (FTBI) and etoposide (VP-16). PATIENTS AND METHODS: Those studied were 33 patients aged < or =18 years with either acute leukemia in first complete remission (CR) (n = 29) or chronic myelogenous leukemia (CML) in first chronic phase (n = 4) who received 1,320 cGy FTBI followed by high-dose VP-16 (60 mg/kg) as a preparatory regimen for BMT from matched sibling donors. Patients with acute leukemia included 18 with acute nonlymphocytic leukemia (ANLL), one with biphenotypic acute leukemia (BAL), and 10 with selected "high-risk" acute lymphocytic leukemia (ALL). Patients with ALL were selected for a high risk for recurrence: those who failed standard remission induction chemotherapy, had a t(9;22) or t(4;11) chromosomal translocation, or had certain clinical high-risk features. RESULTS: At the time of analysis, 28 patients are alive, all of them in continued complete remission for 1.1-7.8 years (median, 5.3 years; mean, 4.9 years). The Kaplan-Meier projected event-free survival (EFS) is 84.5% at 7 years, and the actuarial recurrence hazard is 6.5%. All surviving patients have a performance status of >80%. CONCLUSION: This result of early BMT in a two-institution study of pediatric patients with hematopoietic malignancies suggests that (a) matched sibling allogeneic BMT after conditioning with FTBI and high-dose VP-16 is an excellent treatment for pediatric patients with high-risk leukemia, and (b) children may have a better prognosis than adults treated with allogeneic BMT. Larger multiinstitutional cooperative trials for pediatric patients are needed to confirm this result.