DR.

Affiliatie VU Amsterdam Neuroscience Medical Specialist, Pediatric Neurology

Specialization

Focus of research

Keywords

Cerebral palsy; pediatric movement disorders; dystonia; GNAO1; treatment

Research interests

My research focuses on children with complex movement disorders. My aim is to better understand these disorders and to improve treatment, with the ultimate goal of helping children to reach the best possible level of functioning and quality of life. My research is clinical and translational, and I work closely with colleagues from pediatric and adult neurology, rehabilitation medicine, neurosurgery, movement science and a genome editing lab. My research is embedded within the Amsterdam Centre for Rare Genetic Movement Disorders (NFU centre of expertise) and the European Reference Network for Rare Neurological Diseases. I value the close connection between clinical care and research. My clinical work gives me the opportunity to identify important research questions, while research findings can directly contribute to the care of my patients.

My research focusses on children with  complex movement disorders such as cerebral palsy (CP) and rare genetic movement disorders, with a particular interest in severe spasticity and dystonia. I have worked on motor development and control, dystonia, brain connectivity and the long-term effects of treatment. I am investigating treatment of severe spasticity and dystonia, including selective dorsal rhizotomy (SDR), intrathecal baclofen (ITB) therapy and deep brain stimulation (DBS). An important question in my research is to find predictors for treatment effects. Rare genetic movement disorders, especially GNAO1-related disorders, have become an important part of my research. I am investigating the clinical variability, natural history and treatment options in a national and international context. 

My research aims are

  • To better understand the mechanisms underlying complex movement disorders, from brain organization and motor control to the clinical expression of genetic and acquired disorders.
  • To improve phenotyping and outcome measurement, including not only motor function, but also activities, participation and quality of life.
  • To improve individualized treatment and identify factors that can help predict treatment response and long-term outcomes.
  • To develop longitudinal cohorts and research collaborations for rare movement disorders, allowing us to learn from larger groups of patients over time.

Positions

  • Pediatric Neurologist, MD PhD
  • Chair of the Scientific Committee and Organising Committee of the 6th international GNAO conference, 2027
  • Coordinator of the Dutch GNAO1 Follow-up and Treatment Registry
  • Co-founder of LOBBK (Landerlijk Overleg Behandeling Bewegingsstoornissen bij Kinderen; academic collaboration)
  • Partner in European GNAO1-EU consortium
  • Memberships
    • European Reference Network for Rare Neurological Diseases
    • Advisory board of CP net
    • Advisory board of "Stichting C-BiLLT"

Research partners

  • Harrald Mikkers, Genome Editing Lab LUMC, Leiden, the Netherlands
  • Moritz Thiel, Department of Pediatrics, Cologne University Hospital, Germany
  • Hilde Feys, Department of Movement Sciences, KU Leuven, Brugge, Belgium
  • Darius Ebrahimi-Fakhari, Movement disorders program, Boston Children's Hospital, Boston, USA
  • Andrea Kuhn, Department of Neurology, Charité hospital, Berlin, Germany

My ambition is to find evidence-based and personalized treatment strategies for childred with complex movement disorders. By combining clinical expertise, longitudinal research and multidisciplinary and international collaboration, I aim to improve functioning, participation and quality of life for children with complex movement disorders, both during childhood and later in life.