Specialization
Focus of research
Research interests
Keywords
Cerebral palsy
Pediatric movement disorders
Dystonia
GNAO1
Treatment and interventions
Research interests
My research in pediatric neurology focuses on children with complex motor and movement disorders. My main 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 mainly clinical and translational, and I work closely with colleagues from pediatric and adult neurology, rehabilitation medicine, neurosurgery and movement science.
My research focusses on children with cerebral palsy (CP) and rare neurogenetic disorders, with a particular interest in severe spasticity and dystonia. In children with CP, I have worked on motor development and control, dystonia, brain connectivity and the long-term effects of treatment. I am also interested in the 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 which child will benefit from which treatment, and when treatment should be given.
In recent years, rare genetic movement disorders, especially GNAO1-related disorders, have become an important part of my research. I am interested in the clinical variability and natural history of these disorders, but also in how we can improve treatment and follow-up. Because these disorders are rare, international collaboration and systematic collection of longitudinal data are essential.
My main research aims are:
- To better understand the mechanisms underlying cerebral palsy and 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.
My research is embedded within the Amsterdam Centre for Rare Genetic Movement Disorders 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.
A central part of my current research is the Dutch GNAO1 Follow-up and Treatment Registry, which I coordinate, together with the European GNAO1-EU consortium. I hope that these collaborations will help us to better understand the course of this rare movement disorders and to develop more evidence-based and personalized treatment strategies.
The overall goal of my research is to find the right treatment for the right child with CP or genetic 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 severe motor and movement disorders, both during childhood and later in life.