KS Research & Studies
Summary on recent publications on Kleefstra Syndrome – August 2024
Background information about genetics A person’s genotype is their unique sequence of DNA. More specifically, this term is used to refer to the two forms a ...Kleefstra syndrome: speech and language study published!
The Kleefstra syndrome speech and language study Expanding the phenotyping of Kleefstra syndrome: speech, language and cognition in 103 individuals has been published in the Journal ...Behavioural and Emotional Outcomes in Neurodevelopmental Disorders (BEOND) and Kleefstra Syndrome – Take Part Now!
‘BEOND’ is a pioneering study with our partners at the Cerebra Network for Neurodevelopmental Disorders, which aims to understand more about behaviour, wellbeing, emotion, cognition, sleep ...Speech and Language study
Research into speech and language skills in individuals with Kleefstra syndrome: an international study Murdoch Children’s Research Institute are running a project looking at speech & ...The Impact of Rare Genetic Disorders on Family Functioning
Karlijn Vermeulen (Pediatric psychiatrist and clinical researcher at Radboud UMC in Nijmegen) recently published an article about the enhanced levels of stress that parents with a ...PubMed – List of published KS research
PubMed comprises more than 26 million citations for biomedical literature from MEDLINE, life science journals, and online books. This is a regularly updated list of Ks ...Research update from Radboud UMC
Kleefstrasyndrome.org recently contacted Dr Kleefstra and the team at RadboudUMC, Nijmegen for an update on current Kleefstra Syndrome research. We had received a number of questions ...Introducing new KS researcher
At the UK conference in August 2018 Dr. Kleefstra indicated that due to being successful in a bid for funding her team would be looking to ...Case report summary: Sleep disturbance as a precursor of severe regression in Kleefstra Syndrome suggests a need for firm and rapid pharmacological treatment
Vermeulen,K; Staal, WG; Bokhoven, H van ; Egger, JMI; Kleefstra,T 2017, Article/Letter to editor (Clinical Neuropharmacology, 40, 4, (2017) pp. 185-188) Doi link to publisher: https://doi.org/10.1097/WNF.0000000000000226 ...Adaptive and maladaptive functioning in Ks
Karlijn Vermeulen (Pediatric psychiatrist and clinical researcher at Radboud UMC in Nijmegen) has had a new paper published called ‘Adaptive and maladaptive functioning in Kleefstra syndrome ...
