21 results
The primary objective of the proposed study is to investigate whether bumetanide therapy indeed reduces autistic symptomatology. Important secondary goals of this project are to determine whether bumetanide will improve specific behavioral,…
The aim of the study is to understand the nutritional status of people with complex multiple disabilitiest through measurement of body composition and nutritients.The primary objective of the study is:What percentage of people with complex multiple…
1) to gain insight in the pathophysiological mechanisms leading to intellectual disability and 2) to create a model system which allows screening of therpeutic interventions for efficacy.
The main objective of the study is to reach an etiological diagnosis in as many cases of a selected group of MR patients. The aim is to do so in at least 15-20% of hitherto unexplained MR.Also an objective is the establishment of a genetic-…
To investigate the relation between the amyloid metabolism (as measured by plasma Abeta1-40 en 1-42) and the incidence of dementia in DS patients and the investigate whether there is interaction with vascular or genetic factors with respect to this…
Our project focuses on the function of transporters and deiodinases in the (dys)regulation of intracellular T3 levels in patients with psychomotor retardation and abnormal serum thyroid hormone levels. The main objectives of our study are:1. To…
1. Define the clinical spectrum in female carriers of creatine transporter defect. 2. Correlate the clinical phenotype with X-inactivation studies.
The primary goal of this research project is the identification of genes involved in causing mental retardation. These genes will be part of genetic networks that play a role in normal brain development and function. With up-to-date bioinformatic…
The purpose of the present study is to try to classify autistic children into distinct subgroups, by clinical morphological examination. We mainly want to answer the following questions: 1) Is there an increased prevalence of minor anomalies in…
The primary objective of the study is to test the effectiveness of bumetanide across the whole spectrum of sensory processing disorders within ASD, ADHD and/or epilepsy. We also want to determine which subgroups (high/low IQ, comorbidities or not)…
Our research aims to establish informative tools in the laboratory for studying the molecular and cellular pathways that are altered in SETBP1 disorder.
Primary objective: To evaluate whether intellectual disability and facial dysmorphology are associated with an increased clinical diagnostic yield of genetic testing among patients with a psychiatric illness.Secondary objective: To investigate the…
1) Assess the whole genome sequence (WGS) and clinical profile of the MPX families to identify how rare and common genetic variants interact to produce shared versus distinct NDDs and clinical features in individuals, or different combinations of…
Integrating genomic (WES/WGS) and other -omics technology in order to find the genetic cause, in 500 patients (children and adults) with an unexplained metabolic phenotype in whom standard care (genetic and metabolic evaluation) did not provide a…
1. Provide post-trial access to bumetanide treatment for NDD participants.2. To test how bumetanide cohort data compare to the existing RCT data in terms of treatment effectiveness by using randomization tests. 3. To further develop EEG biomarker…
We aim to study the association between (clusters of) genes or genetic pathways and phenotype in a population of people with a rare genetic variant and a (suspected) ASD. We will do this by 1) describing the individual participant, 2) comparing…
To investigate the effects of GH treatment on body composition, psychosocial development, psychomotor development, growth, glucose metabolism, serum lipids, cognition, behaviour, bone mineral density, quality of life and safety parameters in…
Objectives: 1) Assess neural and cognitive biomarkers (through eye-tracking, EEG/ERP and cognitive measures) in a community sample of infants at heightened non-familial risk for ASD and in age and gender matched low-risk controls. The HR group is…
Our primary objective is to compare children with FXS with children with non-syndromic ASD, a developmental delay (DD) and typically developing (TD) children on three domains: ASD severity, cognitive abilities and (neuro)biological characteristics.…