About me
- Adjunct Professor of pediatric endocrinology and inherited metabolic diseases, Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
- Senior Consultant, Pediatric Endocrinology and Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
- European Pediatric Chair, main thematic group adrenal, Endo ERN
- Treasurer, Swedish Pediatric Association
Research description
We are investigating cognitive functioning and brain development in children and adults with rare endocrine diseases (CAH, Addisons), and other inborn errors of metabolism (IEM) included in the neonatal screening program. We investigate which factors affect cognitive and brain development, so that we can improve treatment and maintain brain health as much as possible. The project also aims to describe somatic health outcomes, quality of life and natural progression of disease in children and adults with IEM in Sweden prior to and after the introduction of the expanded neonatal screening program for IEM. Ultimately the aim is to offer better help to patients in the future if more targeted and timely interventions can be developed based on increased understanding of their problems.
We also have a long-running project on prenatal treatment with dexamethasone in CAH, in which we follow patients from foetal stage to adulthood and assess metabolic, cognitive, neural and epigenetic long-term effects.