Discussion of the potential benefits, implications and applications of research and data on parental experiences of children identified as a carrier for medium-chain acyl-CoA dehydrogenase deficiency.

摘要

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive metabolic condition of fatty acid oxidation with an incidence of approximately 1 in 15,000 in the United States. MCADD screening on newborns has been mandated in over thirty states, including New York. This paper will discuss an ongoing collaborative research project investigating the overall parental experience of having a child identified as an MCADD carrier by the New York State Newborn Screening Program. This study aims to determine what impact, if any, this experience has had on parental attitudes and childcare practices. The findings may allow us to optimize communication during the time in which a child is evaluated for MCADD and to improve management and services to those children and their families. The potential benefits, applications, and implications of this research are examined in this paper. The data and results of this research project are currently in progress.