38 results
The main objective of this prospective population-based study of patients with proximal SMA in the Netherlands is to register SMA patients in the Netherlands in a socalled SMA-database to study prevalence and severity of SMA types 1-4, to perform…
We aim to document the brain anatomy and functioning and development of children and adolescents of different ages who suffer from Prader-Willi syndrome in order to gain insight into the possible relation between the observed behavior and the brain…
To compare sex differences in brain functioning using functional magnetic resonance imaging (fMRI) in healthy pre-pubertal boys and girls with a group of children diagnosed with GID. Subjects will have a second fMRI scan, as soon as they enter…
To investigate the effect of cholic acid supplementation on the clinical and biochemical parameters of Zellweger spectrum disorder
To compare discrimination ability for touch and temperature between subjects with Down*s syndrome and healthy controls. To compare thermal pain thresholds between subjects with Down*s syndrome and healthy controls
Identification of a diseased neuronal network characteristic in children with nocturnal epileptiform activity, which can explain language impairment in these children
The aim of the study is three-fold: First to reveal the clinical course of overweight, second to reveal the clinical course of complaints in overweight and non-overweight children and third to identify leads for prevention of (sustained) overweight…
The primary objective of this study is to assess the clinical efficacy of SC administration of golimumab in pediatric subjects (ages 2 to less than 18 years) with JIA manifested by more or equal to 5 joints with active arthritis despite MTX therapy…
The objective of this study is to determine if children with FAP demonstrate subliminal and supraliminal attentional biases to assumed activity of the abdomen compared to healthy children and if children with FAP interpret the assumed activity as…
Identification of the causative gene for CSBS.
Primary Objective: The here described study aims to strengthen the recently obtained results regarding increased expression of PK antigen in patients with PK-deficiency. This will be achieved by increasing the number of investigated patients and…
In this research, a small group of children known to suffer from complex febrile seizures (FS) will be studied. An increase in expression of FS1 will be investigated in blood in comparison with an control group. This will be done by isolating FS1…
Research of lung function and exercise capacity in late preterms (32-36 weeks gestation) in comparison with term born controls of 8 years
Examine whether there are differences in both instrumental as well as clinical assessment of movement disorders among drug naive patients with autism compared with matched healthy controls.
This study has two major goals. The first goal of this study is to evaluate whether the disabilitating effects of crowding can be reduced by the use of a magnifier early in life. The second goal is to investigate motor and visual development of…
The goal of this study is to establish differences and agreements in the integration of vestibular, visual and somatosensory information and in the neural regulation of head position between girls with idiopathic scoliosis, woth congenital scoliosis…
The main aim of this project is to identify genetic and metabolic risk factors for mild MR and borderline intelligence.
The overall objective of this study is an improvement in (early) diagnosis of NEC and its life-threatening complications, thus to be able to detect children who are *at risk* for NEC and its complications as early as possible. To this end we will as…
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…
Main objective is to assess CFTR protein expression in nasal epithelial cells and in different peripheral blood immune cell subsets from CF patients with different CFTR gene mutations. Secondary objective is to correlate these expression levels with…