Search for a trial

Gait in adults with intellectual disabilities

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…

The RVCL-ID study - Identifying biomarkers and disease stages of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), a monogenic vascular migraine model

1. To identify presymptomatic and symptomatic profiles including (early) disease stages and early biomarkers of disease progression and to elucidate pathophysiological mechanisms, we will investigate RVCL patients at different ages (both symptomatic…

Developmental recapitulation of spinocerebellar ataxia

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…

Psychological consequences of PGD in families where one of the parents is a carrier of Huntington*s Disease

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.

Subjective cognitive impairment and mild cognitive impairment: a sign of incipient Alzheimer*s disease?
* A longitudinal study of functional and structural brain changes in healthy older adults with and without cognitive complaints.

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…

Function of the neuromuscular junction in patients with spinal muscular atrophy (SMA); A cohort study on the function of the neuromuscular junction in Dutch patients with spinal muscular atrophy to elucidate the possible role of the neuromuscular junction in the pathophysiology of spinal muscular atrophy

The main objective of this prospective cohort study of patients with proximal SMA in the Netherlands is to investigate the function of the neuromuscular junction by means of repetitive nerve stimulation (RNS).

Using next generation sequencing to find causative genes in patients with severe microcephaly

To explore the use of exome sequencing in the diagnostic evaluation of patients with severe microcephaly

Clinical and molecular genetic aspects of idiopathic epilepsies

(1) Identification of novel loci and genes in which mutations are responsible for the development of inherited epileptic syndromes. (2) Establishing genotype-phenotype correlations; defining the yield of mutation screenings in specific patient…

The Gilles de la Tourette follow-up study: a study on the long term development of GTS.

1) What is the long-term course of tics and comorbid OCD, ADHD and Quality of life in patients with GTS? 2) What are determinants of favourable versus unfavourable course?

Identifying genetic and metabolic risk factors for mild non-specific mental retardation and borderline intellectual functioning in parent offspring trios.

The main aim of this project is to identify genetic and metabolic risk factors for mild MR and borderline intelligence.

Dysphagia in Neuromuscular diseases, pathophysiology and treatment implications

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…

Characteristics of abnormal general movements and daily function at school age

To evaluate associations between specific characteristics of DA GMs around 3 months CA and daily function at 8 years.

The effect of additional foot support with or without seat surface forward tilting on upper extremity function in children with spastic cerebral palsy*

To evaluate the effect of additional foot support during sitting and the effect of forward tilting of the seat surface on 1) postural adjustments during reaching and 2) the quality of reaching movement in school age children with CP.

Physical fitness of children with a moderate to severe intellectual disability

The objective is to examine the physical fitness of children with moderate to severe intellectual disability.

Cystatine-c as a marker of renal functioning in adult patients with spina bifida

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.

MRI of the sacral plexus and sacral nerve roots in children with neurogenous bladder dysfunction with sacral or spinal anomalies

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 RVCL-MRI study: neuroimaging findings and cerebrovascular reactivity in preclinical and clinical disease stages of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), in migraine patients and healthy controls.

1. To assess neuroimaging hallmarks of RVCL disease stages;2. To evaluate cerebrovascular reactivity as a biomarker of endothelial (dys)function in RVCL patients, in migraine patients and healthy controls;3. To identify shared pathophysiological…

Initiation of chronic ventilatory support outside the hospital.

We want to investigate if it is possible to set up the entire process of home mechanical ventilation outside the hospital. This means practically that the patients will not be admitted to the hospital. The goal of this study is to answer the…

Early neurological outcome of prenatally diagnosed ventriculomegaly at 20 weeks of gestation standardized ultrasound scan

Primary objective: To determine whether the short-term neurological outcome of surviving children diagnosed with prenatally diagnosed ventriculomegaly is associated with the extent of VM before birth.Second objective: To determine whether the…

HCHWA-D a monogenetic model for intracerebral hemorrhage

The overall aim of this study is to investigate the pathophysiology of ICH by investigating intracerebral hemorrhage in HCHWA-D patients. By investigating triggers for ICH, hematoma expansion, recurrence rate and outcome in HCHWA-D related ICH we…