Measuring genetic knowledge: a brief survey instrument for adolescents and adults.

Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge measure. The 18-item measure was completed by parents of children with congenital heart defects (CHD) (n = 465) and adolescents and young adults with CHD (age: 15-25, n = 196) with a mean total correct score of 12.6 [standard deviation (SD) = 3.5, range: 0-18]. Utilizing exploratory factor analysis, we determined that one to three correlated factors, or abilities, were captured by our measure. Through confirmatory factor analysis, we determined that the two factor model was the best fit. Although it was necessary to remove two items, the remaining items exhibited adequate psychometric properties in a multidimensional item response theory analysis. Scores for each factor were computed, and a sum-score conversion table was derived. We conclude that this genetic knowledge measure discriminates best at low knowledge levels and is therefore well suited to determine a minimum adequate amount of genetic knowledge. However, further reliability testing and validation in diverse research and clinical settings is needed.

Myocardial calcification caused by secondary hyperparathyroidism due to dietary deficiency of calcium and vitamin D.

A 6-year-old girl presented with respiratory distress. Chest radiographs exhibited calcifications in the mediastinum. Further imaging revealed extensive cardiac calcifications on computed tomography of the chest. The laboratory parameters were consistent with findings of secondary hyperparathyroidism. Detailed review of her dietary history revealed a prolonged history of dietary deficiency of calcium and vitamin D. Treatment consisted of adequate daily replacement of calcium and ergocalciferol. On follow-up, her parathyroid hormone level was significantly reduced and substantially reduced cardiac calcifications were seen on echocardiogram. Pediatric cardiologists must be aware of this potentially fatal but treatable disease in children with cardiac calcifications unexplained by other causes.