Integrated assessment of brain structure and function and treatment effects in endocrine and metabolic diseases

Summary of research

In primary adrenal insufficiency, PAI, (CAH, Addison´s) the impaired cortisol and aldosterone synthesis requires life-long replacement therapy. In CAH, the virilization of the female fetus can be treated with dexamethasone (DEX) given to the pregnant mother. Cognitive problems may develop over time and emerge in adulthood due to imbalances in cortisol levels.

CAH is included in the neonatal screening program together with 22 inborn errors of metabolism (IEMs). The aim of screening is to institute early treatment, save lives and reduce the effects of toxic metabolites on health and development. There is limited knowledge about the variability in neurodevelopmental trajectories for IEMs, and the association with disease control or disease severity.

The purpose of the study is to: A) Investigate the effects of treatment on brain function and structure in PAI over the life span including the safety of prenatal DEX treatment. We develop non-invasive prenatal diagnostics, in a European initiative, to avoid DEX in those who don’t benefit and minimize potential sequelae. B) Investigate the effects on cognition, brain structure/function, in IEMs, in relation to disease specific biomarkers and different treatment interventions.

We use neurocognitive tests, questionnaires to assess behavior/mood and health related quality of life as well as fMRI/MRS of the brain. With this multimodal approach we will provide information for a more person-centered management.