Project details


Can we recognize movement disorders in patients with an inborn error of metabolism? Validation of a clinical screening tool for non-neurologists

Screening tools Inborn Error of Metabolism Hyperkinetic movement disorders

prof. dr. M.A.J. de Koning-Tijssen
dr. T.J. de Koning
dr. L.H.Koens

Type of project:
Stage Wetenschap / Researchproject

Nature of the research:
The student will be joining our longitudinal research project aimed at movement disorders in inborn errors of metabolism. The student is encouraged to visit our groups weekly meetings, such as the movement disorders video’s meetings, work in progress meetings, and the department’s research meetings.

Fields of study:
neurology internal medicine

Background / introduction
Movement disorders are involuntary movements, including for example tremor or jerky movements. These involuntary movements are frequent in patients with late-onset inborn errors of metabolism (IEMs).1,2 For a long time, IEMs were thought to occur mainly in children, and some of them can be found during neonatal screening. However, with the introduction of genetic testing, also adults were diagnosed with IEMs.
Many patients with a late-onset IEM suffer from movement disorders. It is important to recognize these involuntary movements, as movement disorder severity correlates with impaired quality of life. Symptomatic treatment of movement disorders can positively influence quality of life, even when the underlying IEM itself is not treatable.3,4 Unfortunately, recognizing movement disorders is considered to be complex. IEM patients are often treated by many different specialists, who are not always familiar with recognizing involuntary movements.
To assist non-neurologists, we have developed a clinical screening tool that will help to recognize movement disorders.5 This tool contains different tasks, including walking, observation of the arms, and drawing a spiral. However, the tool was designed by international movement disorder specialists and we don’t know how well it performs in the hands of non-movement disorder specialists, such as internists and pediatricians.
Therefore, we want to validate and, if necessary, adapt the screening tool in this study.
Research question / problem definition
Is it is possible for non-movement disorder specialists to detect moderate and severe movement disorders in adolescent and adult patients with an IEM by means of a clinical screening tool?
This study contains two parts:
- In the first part, we will develop an instruction video of the different types of movement disorders, their clinical characteristics, and how to use the screening tool. The video will be complemented with instruction material with animations/cartoons. In the video, the different tasks of the screening tool will be presented and the abnormalities that can be found during the performance of these tasks will be shown for the different movement disorders. While developing this instruction material, we will also design a survey on experiences with and recognizing of movement disorders by internists and pediatricians.
- In the second part, the screening tool will be tested in clinical practice. Internists and pediatricians will be offered a training session on identification of movement disorders and the use of the screening tool. Their scores of this session will be compared to those after the use of the screening tool to see whether there was a learning effect. Next, they will be asked to use the screening tool on video’s in patients aged 12 years or older, and indicate whether they think there is a movement disorder or not, and when present, the type of movement disorder. Based on these findings and the feedback, the screening tool and/or the cut-off score will be adapted.
1. Ebrahimiā€Fakhari D, van Karnebeek C, Münchau A. Movement Disorders in Treatable Inborn Errors of Metabolism. Movement Disorders. 2019 May 17;34(5):598–613.
2. Koens LH, Tijssen MAJ, Lange F, Wolffenbuttel BHR, Rufa A, Zee DS, et al. Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism. Movement Disorders. 2018;
3. Eggink H, Kuiper A, Peall KJ, Contarino MF, Bosch AM, Post B, et al. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning. Orphanet J Rare Dis. 2014 Nov;9:6.
4. Koens LH, Kuiper A, Coenen MA, Elting JWJ, de Vries JJ, Engelen M, et al. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. Orphanet J Rare Dis. 2016 Sep;11(1):121.
5. Koens LH, Klamer MR, Sival DA, Balint B, Bhatia KP, Contarino MF, et al. A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism. Mov Disord 2023 Feb 2
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