Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

There is an increasing demand for an accurate and objective measure of cognitive functioning that can be used to follow the natural progression of MHBDD. Psychological assessment may enable the identification of organic problems. The application and interpretation of psychometric tests used in children may vary from those used in adults.