Cognition in sepiapterin reductase deficiency

Abstract

The title of this research is 'Cognition in Sepiapterin Reductase Deficiency'. The aim of this study is to explore the cognitive impairments found in individuals with Sepiapterin Reductase Deficiency (SRD). Using a quantitative approach, four cognitive tests were administered to seven SRD individuals along with seven age and gender-matched participants from a normal sample. The research question is 'What, if any, are the cognitive deficits found in an SRD sample?' The factors taken into consideration were: reasoning, spatial ability, memory, latent inhibition, kamin blocking and attention/concentration. The results obtained show that there is a significant difference in global non-verbal cognitive abilities when comparing the two groups. There is also a significant difference in the groups' results with regard to attention and concentration. The most important results that emerge from this study are the covert problems being faced by individuals with SRD. As such, these should be tackled by addressing all the effects of the disorder and not only the motor difficulties. Key Words: Sepiapterin Reductase Deficiency, Reasoning, Spatial Ability, Memory, Latent Inhibition, Kamin Blocking, Attention/Concentration.