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Spinal Muscular Atrophy, SMN protein and Genetics; A population based study on spinal muscular atrophy in the Netherlands to explore the prevalence of SMA type 1-4 and their severity in the Netherlands by registrating all patients in a so called SMA-database, to elucidate the genetic factors determining disease severity and to determine the value of SMN protein concentrations as a surrogate marker for clinical trials.

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…

Gender identity, sex hormones & the developing 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…

A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects with Mucopolysaccharidosis IVA (Morquio Syndrome).

The objective of the study is to quantify endurance and respiratory function in subjects with MPS IV A and to better characterize the spectrum of symptoms and biochemical abnormalities in MPS IV A disease over time.

The Rolandic epilepsy/ESES/Landau-Kleffner Syndrome and correlation with Language impairment study

Identification of a diseased neuronal network characteristic in children with nocturnal epileptiform activity, which can explain language impairment in these children

Attentional Bias to Activity in the Abdomen in Children with Functional Abdominal Pain (FAP).

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…

Recognition of congenital heart defects caused by CHD7 gene mutations

Our primary objective is to identify the patients with congenital heart defects in whom CHD7 mutation detection is needed. Secondly we want to identify the co-existing medical problems in children with a congenital heart defect due to a CHD7…

Selective mutism - A follow up study

The goal of the present study is to describe this unique sample on the basis of dossier analysis at the time of referral and reassess all individuals for follow up. VERPLAATST: The main objective of this study is to assess long-term outcome of…

Identifying the gene causing Congenital Short Bowel Syndrome

Identification of the causative gene for CSBS.

The effect of severe respiratory syncytial virus (RSV) lower respiratory tract infections in mechanically ventilated infants younger than 12 months of age on recurrent wheezing and lung function

The primary objective is a) to study the occurrence of recurrent wheezing following hospitalisation for severe RSV LRTD, and to study the differences in occurrence between ventilated and non-ventilated infants, and ) to study differences in lung…

Instrumental assessment of movement disorders in antipsychotic naive patients with autism and healthy controls

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.

Normative values of ERGs, and association between photoelectric response and retinal thickness as a function of age: The Erasmus ERG Study

This study has the following goals: 1. Generation of normative values for full-field ERGs within single recording sessions according to ISCEV standard.2. To compare function (results of full-field ERG) with anatomy (retinal thickness on OCT) in…

Role of visual, vestibular and somatosensory systems in the neural regulation of head position and body posture in young women with idiopathic scoliosis

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…

Cytokines, autoantibodies and astrocytes in the pathology of Aicardi-Goutieres syndrome (AGS)

The objectives of the complete NIMBL study are as follows:Objective 1. Gain insight into the natural history of AGS and RVCL* Create a registry of paediatric and adult AGS and RVCL patients, and develop a network of clinicians caring for these…

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.

The relationship between sedentary time and metabolic function in children

To measure sedentary behaviour among 10-12 year-olds and the relationship with metabolic function

The mirror box illusion: visuo-proprioceptive interaction and training effects in children with Spastic Hemiparetic Cerebral Palsy

the aim of the current research project is to investigate the effect of the mirror box illusion on movement performance, neuromuscular activation and proprioception in children with SHCP. The following objectives are: to determine the effect of the…

Advanced Glycation Endproducts (AGEs) in pregnancies complicated by diabetes mellitus and the accumulation of AGEs in the neonates

Primary Objective: To determine the accumulation of AGEs in the skin and serum of pregnant women with DM1, DM2 or GDM, in comparison to healthy pregnant women and non-pregnant women with DM1 or DM2 and to determine the accumulation of AGEs in the…

Venturius study
Epidemiology, genetics and immunology of viral lower respiratory tract infections in children.

Discover diagnostic biomarkers for disease severity. Increase the insight in the epidemiology of viral infections in the primary, secondary and tertiary care facilities and in the pathogenesis of and immunological response against viral infections.

Blood pressure and steroid metabolism in the first year of life in patients with congenital adrenal hyperplasia (CAH): a longitudinal study

To evaluate the blood pressure within the first year of life we will perform a prospective longitudinal study in all newborn patients with the classical form of CAH. To analyze the urinary steroid profile in CAH patients and healthy controls during…

Parent-child interaction in clinical subsamples.
A comparison in parent-child interaction between toddlers with a pervasive developmental disorder, regulation disorder or other psychiatric diagnosis.

This study aims to study the following questions:1. Which differences in parent-child interaction can be identified between diagnostic groups of toddlers with clinical diagnoses?2. Which differences in parent-child interaction can be identified…