PhD ceremony Dr. Rick Brandsma

On september 17, Rick Brandsma successfully defended his thesis “The reliability of diagnostic measures in Early Onset Ataxia”. His promotors Prof. dr. M.A.J. de Koning-Tijssen and Prof. dr. O.F. Brouwer and copromotors Dr.  D.A. Sival and Dr. H. Burger were present.

By comparative research, Brandsma showed that tests used to determine the severity of ataxia (balance and/or coordination disturbance) in adults are also applicable in children older than eight years of age. According to Brandsma, in younger children the evaluation of gait and stance can give a good estimation of the severity of the ataxia. The reliability of the ataxia tests in children have never been tested before and the results of this thesis could help in the recognition and follow-up in young children with ataxia.

Ataxia is a disorder of coordinated movements, resulting in less fluent goal directed movements. Early onset ataxia (EOA) is defined as the start of ataxic symptoms before the age of 25 years. The underlying causes of EOA is heterogeneous involving rare genetic or metabolic disorders. The presentation of the underlying disorders are heterogeneous as well, which complicates the recognition and evaluation of ataxic features at the young ages. There are multiple ataxia rating scales which can determine the severity of ataxia. Brandsma investigated the reliability of the three most used ataxia rating scales in healthy children and children with EOA.

The most important conclusion of the thesis is that the results of ataxia rating scales in children are not only influenced by the severity of ataxia but also by the normal development of the nervous system, other movement disorder features and muscle weakness. Also de inter-observer agreement on the recognition of the movement disorder phenotype in EOA is moderate. As EOA has many different etiologies, Brandsma created a diagnostic algorithm (in strong collaboration with an Europese expert group) to guide the clinician  in making a fast and correct diagnosis.

Rick Brandsma (1984) studied Medical Imaging and Radiation Therapy at  the Hanze Hogeschool in Groningen and Medicine at the University of Groningen. During his thesis research he was connected to the department of and the research institute BCN-BRAIN Neurology of the University Medical Center Groningen. From the 1st of January 2019 dr. R Brandsma is going to work as a pediatric neurologist at the Wilhelmina Children’s Hospital in Utrecht.