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PKU Academy Advanced Course - Neuropsycholgical outcomes

PKU Academy Advanced Course - Neuropsycholgical outcomes
  • Endocrinology and metabolism



Course introduction


Since the 1960s, detection through newborn screening and the resultant early dietary treatment of PKU have allowed vast improvements in the psychological and behavioural outcomes of PKU. Many reports have shown that optimum outcome occurs when dietary therapy is started early and continued indefinitely. The literature on the outcome of PKU treatment supports the conclusion that outcome in PKU is related to the concentration of phe in the blood of affected individuals, especially in the first 6 years of life. Modern treatment strategies allow for a less restrictive dietary therapy.

The aim of this advanced online course is to introduce the different neurocognitive assessment and outcome parameters in PKU, beginning with a summary of the “Pharmacological treatment of PKU” from the 1st advanced online course. Then outcome parameters in children and adults will be discussed, with focus on the effect of different treatment strategies.

This five part advanced online course on neuropsychological assessment and outcome in PKU is accredited and when successfully completed is worth 3 European CME credits (ECMEC) – the highest level possible for a CME e-learning activity. 

The course is free and available to everyone registered with the PKU Academy website.

The aim of this advanced online course is to introduce the different neurocognitive assessment and outcome parameters in PKU, beginning with a summary of the “Pharmacological treatment of PKU” from the 1st advanced online course. Then outcome parameters in children and adults will be discussed, with the focus on the effect of different treatment strategies.

Learning objectives

Following this advanced online course, the following learning objectives will be reached.

General learning objectives of this course:

  • acquire knowledge on the different neurocognitive assessments and outcome parameters in PKU
  • be able to optimize PKU treatment to acquire best outcome

CME accreditation

The course is accredited by the European Accreditation Council for Continuing Medical Education (EACCME) for 3 European CME credit (ECMEC).


Dr. A.M. Bosch, MD PhD

Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Centre, University Hospital of Amsterdam, the Netherlands

Annet M Bosch is paediatrician for metabolic disorders in the Academic Medical Center, Amsterdam, The Netherlands. She received her MD from the University of Maastricht, The Netherlands in 1994, and was trained as a paediatrician in the AMC Amsterdam from 1995 to 2000. She obtained her PhD on the thesis “Classical Galactosemia Revisited” at the University of Amsterdam in 2004. From 2003 to 2006 she worked as a fellow for metabolic disorders at the division of metabolic disorders, department of paediatrics, of the AMC where she is now working as a paediatrician for metabolic disorders. Her major research topics and peer reviewed publications are on phenylketonuria and galactosemia.

On a national level she is the chairperson of the paediatricians for metabolic disorders of the Dutch Pediatric Society, and she is a member of the Advisory Committee on neonatal screening with respect to inherited metabolic diseases. Also, she is a member of the Dutch society for physicians and biochemists involved in metabolic diseases, and she is a member of the scientific advisory board of the Dutch galactosemia society. On an international level she is a member of the Society for the Study of Inborn Errors of Metabolism, she is a member of several advisory boards on inborn errors of metabolism, and she is a member of the scientific advisory board of the European Galactosemia Society.

Stephan C.J. Huijbregts, PhD

Department of Clinical Child and Adolescent Studies, Leiden University, the Netherlands

Dr. Stephan Huijbregts is a neuropsychologist who received his Ph.D. from the Vrije Universiteit Amsterdam in 2002. The topic of his thesis was cognitive functioning of children and adolescents with early- and continuously-treated Phenylketonuria. After spells at the University of Montreal (Canada) as a post-doctoral researcher and as a lecturer at the University of Southampton (United Kingdom), he has been working as an Assistant Professor at Leiden University and as a senior researcher at the Leiden Institute for Brain and Cognition since 2006. His work focuses on cognitive-behavioral phenotypes of people with substance use disorders, people who have been exposed to substances in utero, and people with genetic disorders, such as Neurofibromatosis Type 1, Tyrosinemia Type 1, and Phenylketonuria. He is a member of several medical and scientific advisory boards, and has published his work in several high-impact journals in the fields of (developmental) neuropsychology, cognitive and clinical neuroscience, child and adolescent psychiatry, and neurology. He has received several grants to perform studies in his areas of interest, both individually and in (international and national) collaborative settings. He is involved in the supervision of many PhD theses, as well as (research-) masters’ and bachelors’ theses.

Desirée A. White, PhD

Department of Psychology, Washington University, St. Louis, MO, USA

Desirée A. White, Ph.D., is a Professor of Psychology at Washington University in St. Louis, United States of America. Research in her Developmental Neuropsychology Research Laboratory focuses on the development of executive abilities (e.g., inhibitory control, working memory, strategic processing) in children with disorders that disrupt function of the prefrontal cortex of the brain and associated brain regions, with particular emphasis on phenylketonuria (PKU). Findings regarding executive abilities in individuals with PKU are associated with results from brain imaging studies (e.g., structural MRI, diffusion tensor imaging) and are examined in relation to treatment with sapropterin dihydrochloride. Dr. White also participates in multi-disciplinary/multi-institutional endeavors to reexamine treatment guidelines for individuals with PKU, such as the National Institutes of Health Phenylketonuria Planning Group to Revisit Phenylketonuria Management Guidelines and the Vanderbilt University Evidence-Based Practice Center. Dr. White served as Co-Editor for a special supplement of Molecular Genetics and Metabolism (2010) entitled Phenylketonuria, Psychology, and the Brain.

Faculty Disclosure

EXCEMED adheres to guidelines of the European Accreditation Council for Continuing Medical Education (EACCME) and all other professional organizations, as applicable, which state that programs awarding continuing education credits must be balanced, independent, objective, and scientifically rigorous. Investigative and other uses for pharmaceutical agents, medical devices, and other products (other than those uses indicated in approved product labeling/package insert for the product) may be presented in the program (which may reflect clinical experience, the professional literature or other clinical sources known to the presenter). We ask all presenters to provide participants with information about relationships with pharmaceutical or medical equipment companies that may have relevance to their lectures. This policy is not intended to exclude faculty who have relationships with such companies; it is only intended to inform participants of any potential conflicts so participants may form their own judgments, based on full disclosure of the facts. Further, all opinions and recommendations presented during the program and all program-related materials neither imply an endorsement, nor a recommendation, on the part of EXCEMED. All presentations solely represent the independent views of the presenters/authors.