This thesis explores decision-making and perceptions of decisional quality in parents whose children have undergone newborn bloodspot screening. Newborn bloodspot screening is the programme through which newborn babies are screened for a variety of conditions shortly after birth. In the UK babies are screened for phenylketonuria (PKU), congenital hypothyroidism (CH), sickle cell diseases (SCD),...

In many situations there exists an abundance of positive examples, but only a handful of negatives. In this paper we show how in binary or transaction data such rare cases can be identified and characterised. Our approach uses the Minimum Description Length principle to decide whether an instance is drawn from the training distribution or not. By using frequent itemsets to construct this compre...

The analysis of urinary acylglycines is an important biochemical tool for the diagnosis of many organic acidemias and mitochondrial fatty acid β-oxidation defects. A new rapid analytical method has been developed for quantification of acylglycines in urine by liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS). The method requires a simple sample preparation avoiding derivati...

In February 1999, Massachusetts introduced expanded newborn screening for 20 rare metabolic disorders by MS/MS. Medium chain acyl-CoA dehydrogenase deficiency (MCADD) was mandated, in addition to 9 previously screened disorders, while the remaining 19 were offered as an optional pilot. Approximately 98% of parents have elected to participate in the optional program. Maine added MCAD in Septembe...