A5081865161- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- Down syndrome and intellectual disability research
- RNA Research and Splicing
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Family and Disability Support Research
- Epigenetics and DNA Methylation
- Congenital Heart Disease Studies
- Chronic Disease Management Strategies
- Cardiovascular Function and Risk Factors
- Congenital limb and hand anomalies
- Congenital heart defects research
- RNA modifications and cancer
- Adolescent and Pediatric Healthcare
- Cardiac Structural Anomalies and Repair
- Orthopedic Surgery and Rehabilitation
- Pediatric Pain Management Techniques
- Cardiovascular Effects of Exercise
- Genetic Neurodegenerative Diseases
- Tumors and Oncological Cases
- Estrogen and related hormone effects
- Childhood Cancer Survivors' Quality of Life
Amsterdam University Medical Centers
2019-2024
Emma Kinderziekenhuis
2021-2024
Amsterdam UMC Location University of Amsterdam
2016-2024
University of Amsterdam
1997-2024
Ipse de Bruggen
2010-2012
Indiana University School of Medicine
2009
Indiana University
2009
Cornelia de Lange syndrome (CdLS) is a well known malformation for which five causative genes are known, accounting ∼55-65% of cases. In this study, we hypothesised that mosaicism might explain some the ∼35-45% cases without detectable mutation in DNA derived from lymphocytes; investigated frequency NIPBL mutations buccal cells individuals negative any and evaluated efficiency obtaining swabs best strategy optimal detection CdLS.Buccal were obtained eight positive 13 with clinically...
SMC1A encodes one of the proteins cohesin complex. variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing in individuals with encephalopathy epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 for physical and behavioral characteristics, compare results those 67 NIPBL variants. For Netherlands all were studied, both without CdLS phenotype. Individuals can CdLS, but...
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic that characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs symptoms. It caused variants in either of two genes ( CREBBP , EP300 ) which encode for the proteins CBP p300, both have a function transcription regulation histone acetylation. As group international experts national support groups dedicated to syndrome, we realised marked heterogeneity...
Abstract RAD21 encodes a key component of the cohesin complex, and variants in have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to genotype–phenotype relationships is currently published. We gathered series 49 individuals from 33 families alterations [24 different intragenic sequence (2 recurrent), 7 unique microdeletions], including 24 hitherto unpublished cases. evaluated consequences 12 by protein modelling molecular dynamic...
Abstract KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor memory deficits, but human disorders related to variants are largely unknown. Using exome sequencing, we identified a de novo frameshift deletion in patient learning disabilities, cerebellar ataxia white matter abnormalities on brain MRI. This discovery prompted us collect data from nine additional patients...
Background Since the life expectancy of people with profound intellectual and multiple disabilities (PIMD) is increasing, siblings may take over care/support roles from their parents.Method To explore how parents persons PIMD view siblings' role regarding future for family member, we interviewed eight 13 seven analysed data thematically.Results While some expected that a would burden sibling unfairly, most anticipated such reported no concerns about this responsibility. Despite lack explicit...
Abstract In this article, we describe the healthcare system for people with intellectual disabilities (ID) in Netherlands. The general background about ID is same worldwide: their health needs are often unrecognized and unmet. We delineate, from a historical perspective, steps Netherlands has taken to change situation them. crossed milestone 2016 when it ratified UN Convention on Rights of Persons Disabilities. Despite challenges establishing numbers, an estimated prevalence 1.45% was...
Parents' tacit knowledge plays an important role in the care of persons with profound intellectual and multiple disabilities (PIMD). As little is known about its nature use, we aimed to explore this parental knowledge. We conducted semi-structured interviews parents (n = 11) their child, based upon video recordings they made child's behaviour, analysed data thematically. Parents described as capacity read subtle signs, or sense "just know" situation. They had developed because shared history...
<h3>Background</h3> Congenital heart defects (CHD) are common in patients with Down9s syndrome; however, living residential centres have not always been screened for CHD the past. The aim of this study was to investigate prevalence syndrome centres, and determine whether cardiac screening should be recommended. <h3>Methods</h3> Between January 2007 November 2009 Dutch nationwide were randomly sampled. Medical files all investigated retrieve documented information on known CHD....
Abstract SMC1A epilepsy syndrome or developmental and epileptic encephalopathy‐85 with without midline brain defects (DEE85, OMIM #301044) is an X‐linked neurologic disorder associated mutations of the gene, which also responsible for about 5% patients affected by Cornelia de Lange spectrum (CdLS). Only described in female patients, characterized onset severe refractory seizures first year life, global delay, a variable degree intellectual disability, dysmorphic facial features not typical...
CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated (p300, EP300) are involved in histone acetylation transcriptional regulation. Variants that produce a null allele or disrupt the catalytic domain of either cause Rubinstein-Taybi syndrome (RSTS), while pathogenic missense in-frame indel variants parts exons 30 31 phenotypes recently described as Menke-Hennekam (MKHK). To distinguish MKHK subtypes define their characteristics, molecular extended clinical data on 82...
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. Epigenetic dysregulation has been implicated PTHS, prompting the investigation of DNA methylation (DNAm) "episignature" PTHS for diagnostic purposes variant reclassification functional insights into molecular pathophysiology this disorder. A cohort 67 individuals with genetically...
Physical fitness is reduced in adults with Down syndrome (DS). The present study was conducted to elucidate the exercise response DS.Case controlled before-after trial.Residential centre for people intellectual disabilities.96 Adults DS, 25 non-DS an disability, 33 controls.Echocardiography exclude heart defects and measure cardiac index (CI) supine position, position raised legs, following ten knee bends.Exercise testingAt rest, mean CI not significantly different between persons DS...
Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause only a few studies considered behavioural characteristics relation developmental level. Here, we describe the phenotype individuals with CdLS SMC1A variants.We performed an international, interdisciplinary study on 51 variants. Results of questionnaire are compared those Down Autism Spectrum Disorder. cognition self-injurious (SIB)...