21 results
The objective of the study is to investigate if it is possible to predict the clinical outcome of a patient with SCN1A related epilepsy based on the findings of advanced genotyping. We aim to answer the following questions:1. Can clinical outcome in…
To determine the feasibility of rs-fMRI in neonates undergoing a planned diagnostic MRI session following perinatal asphyxia. To assess intra-session reproducibility (test-retest reliability) of the rs-fMRI technique in neonates with asphyxia.
Obtain information regarding the movement abilities and muscle strength in persons with several neuromuscular diseases, which can be used to develop a motion controlles arm suport for daily use and training of arm function.
The objective is to assess the gait characteristics of adults with intellectual disabilities by other causes than Down syndrome, and without diagnosed neurological conditions (Parkinson's disease, cerebrovascular accident, dementia, and…
To evaluate associations between specific characteristics of DA GMs around 3 months CA and daily function at 8 years.
The objective is to examine the physical fitness of children with moderate to severe intellectual disability.
To determine the value of cystatine-c based renal function assessment in adults with spina bifida when compared to the golden standard of 24-hours urine collection.
This study will consist of two parts. In the primary observational part we will assess kinematic and kinetic walking patterns in Duchenne Muscular Dystrophy. Goal is to asses the correlation between progressive contractures and gait patterns. This…
To assess in moderate preterm infants:1) The prevalence and characteristics of brain injury; 2) The relation between perinatal factors and brain injury;3) The validity of cUS for detection of brain injury as compared to MRI (considered the golden…
In this study we want to investigate the CD80/CD86 region whether polymorfism in the 3q21 region of the DM2 population are associated with a high prevalence of autoimmune diseases. If this is indeed the case, this will help our insight in the CD80/…
The aim of this study is to test the feasibility of a GXTT, combined with a SET in adults with ID, through completion rate of the GXTT and the SET, the subjective experience of the participants and determining if the VO2peak of the SET is likely to…
To assess reliability and responsiveness of the IMP in PPT practise. IMP*s responsiveness will be compared to that of the AIMS. .
This will be an explorative study to examine the value of high-resolution ultrasound (HRUS) of the peripheral nerves in NF1 patients. The primary objective of this study is to determine HRUS abnormalities in a large group of NF1 patients, and to…
The primary objective is the development of a computer-aided diagnosis tool (CAD-tool) that enables specialists to improve the diagnosis, treatment, and evaluation of hyperkinetic movement disorders. The secondary objectives is are: 1) To analyze…
The objectives of the study are:• To understand the phenotypic heterogeneity and phenotype/genotype correlation and natural history of ALSP.• To develop and evaluate biomarkers for assessing disease progression in patients with ALSP.• To create the…
Objective: The primary objective of this pilot project is to investigate the early course of motor development in children with DS. Secondary objectives are to investigate the relation between type of SCN1A mutation and developmental profile and to…
1. Evaluate the relation between pretreatment muscle weaknesses, spasticity, abnormal synergies, and changes in viscoelastic joint properties on the one hand, and changes in upper extremity spasticity following treatment on the other hand in…
The primary aim of this study is to investigate the safety and feasibility of ultra-high field magnetic resonance imaging (MRI) of the brain in neonates and to optimize scan protocols.
The objective is to research the psychometric properties (feasability, reliability and validity) of the Zuidwester Balans Schaal.