Rr Du Preez

Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients.

A hemizygous deletion of the q11 band on chromosome 22 occurs in 1 of every 5,950 live births (0.017%). The deletion is mediated by low copy repeats (LCRs) flanking this locus. Presence of the deletion is associated with variable phenotypic expression, which can include distinctive facial dysmorphologies, congenital heart disease and learning disabilities. An unusually high percentage of individuals with this deletion (25–30%) have been described to develop schizophrenia or schizoaffective disorder. In previous studies, the prevalence of the 22q11 deletion in patients with schizophrenia was found to be approximately 2% in Caucasian adults and 6% in childhood‐onset cases. Both these frequencies represent a dramatic increase from the prevalence of the deletion in the general population. In this study, we investigate the occurrence of the 22q11 deletion in an independent sample of schizophrenic patients of Afrikaner origin. We first ascertained a sample of 85 patients who meet full diagnostic criteria for schizophrenia for presence of two or more of the clinical features associated with presence of the 22q11 deletion. A group of six patients (7%) met these criteria. This group was subjected to fluorescent in situ hybridization (FISH) and presence of the 22q11 deletion was confirmed for two subjects. Our study therefore confirms the previously reported rate of 2% frequency of the 22q11 deletion in adult schizophrenic patients and provides a two‐stage screening protocol to identify these patients.

Teaching professionalism: a South African perspective

Background: Incorporating the teaching and assessment of professionalism in an undergraduate medical curriculum is a challenging process. There are two components that require attention: the cognitive and the experiential. This article outlines how the School of Medicine at the University of Pretoria (UP), South Africa is addressing the teaching and assessment of professionalism. Aims: To embed teaching and assessment of professionalism in a revised six-year undergraduate medical curriculum. Method: This is a descriptive paper of a curriculum process that has stretched over a number of years. The eight principles regarding teaching professionalism provided by Cruess & Cruess () are used to reflect on the current strengths and weaknesses of teaching and assessing professionalism in the UP undergraduate medical curriculum.  The cognitive component of the curriculum has been addressed by introducing a series of stage appropriate, contextualized assignments in each year of the curriculum. Faculty committee structures supported the development and implementation of this component. Students’ responses to an assignment on the influence of role models provided insight into how the experiential component impacts on their professional development. Results: The teaching and assessment of the cognitive component were relatively easy to put in place. The challenge is to maintain this component. The experiential component appears to be much the same as it was prior to revision. Conclusions: Our way forward is to expand the teaching and assessment of professionalism in the experiential component. We want to facilitate faculty to develop a charter on professionalism. The principles and commitments of the charter will underlie a white coat ceremony for undergraduates. These principles will also provide guidelines for role models in their supervision of experiential learning and can inform criteria for assessment. An assessment strategy to assess professionalism in the experiential component needs to be developed and implemented.