60 results
The primary objective is to assess neuropsychological function in X-ALD patients without active cerebral demyelinating disease. Data of minors will be compared to matched healthy controls. Data of adults will be compared to reference values. The…
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…
The primary objective is to study if quantitative (3- and 7-Tesla) MRI protocols (MRI perfusion, diffusion tensor imaging (DTI), and chemical shift imaging (CSI)) are able to detect phenotype conversion earlier than conventional MRI. Results will be…
We aim to conduct a five year follow-up amongst the X-ALD carriers and assess their current symptomatic and biochemical status. This data will provide new insights in the progression of the disease in carriers. Moreover we would like to validate a…
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.
Objective of this study is to determine if Optical Coherence Tomography (OCT) measurements are a reliable measure of the severity of neurological impairment in patients with X-ALD and ZSD and therefore if OCT is an acceptable "surrogate"…
To investigate whether the peripheral nervous system is involved in paroxysmal neurological conditions.
- To assess the burden of disease of congenital CMV infection in the Netherlands at the age of 5 to 6 years through the assessment of the occurrence of sensorineural hearing loss due to congenital CMV infection.- To establish the burden of disease…
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…
1. We will recruit 6 probands who experience cerebellar movement disorders with spinocerebellar ataxia features such as uncoordinated movement (i.e. asthenia, asynergy, delayed reaction time and dyschronometria) in limbs and organs such as the eyes…
To gain insight (1) into psychological functioning of couples where one partner is carrier of HD and who have PGD child(ren); and (2) into the family interactions in these families.
1. To investigate the differences between healthy older adults with and without cognitive complaints (SCI) and MCI patients in: a) resting state functional connectivity; b) brain structure; and c) cognitive function. 2. To investigate longitudinal…
The objective is to describe the nature and underlying (neuromuscular en biomechanical) factors of dysphagia in different neuromuscular diseases in relation to different consistencies of food. Identifying the contributing factors are starting points…
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.
Gain insight in the anatomy and organisation of the sacral plexus in children with NB and congenital spinal or sacral anomalies. Possible findings can be compared with the results of the healthy subjects, in order to be able to relate findings to…
The core approach of our proposed project is to investigate three aspects of emotional recognition in the Möbius and congenital bilateral facial paralysis populations through observed facial expressions, and the possible link between them, as…
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…