Publications

Human brain ontogeny is characterized by a considerably prolonged neotenic development of cortical neurons and circuits. Neoteny is thought to be essential for the acquisition of advanced cognitive functions, which are typically altered in intellectual disability (ID) and autism spectrum disorders (ASDs). Human neuronal neoteny could be disrupted in some forms of ID and/or ASDs, but this has never been tested. Here, we use xenotransplantation of ...

Most people with intellectual disability (ID) do not receive a molecular diagnosis following genetic testing. To identify new etiologies of ID, we performed a genetic association analysis comparing the burden of rare variants in 41,132 noncoding genes between 5,529 unrelated cases and 46,401 unrelated controls. RNU4-2, which encodes U4 small nuclear RNA, a critical component of the spliceosome, was the most strongly associated gene. We ...

Tangible user interfaces (TUIs) have been applied to assess, communicate, or regulate human core affect, emotions, or moods. Previous studies identified TUIs as an innovative way to serve people's affective needs. This review examines the design and evaluation of tangible interactive systems that focus on human core affect, emotions, and moods. We provide an overview of current studies. We summarize how tangibility can be leveraged to support ...

A trustful relationship between transplant patients and their transplant team (interpersonal trust) is essential in order to achieve positive health outcomes and behaviors. We aimed to 1) explore variability of trust in transplant teams; 2) explore the association between the level of chronic illness management and trust; 3) investigate the relationship of trust on behavioral outcomes. A secondary data analysis of the BRIGHT study (ID: ...

OBJECTIVES: To develop and validate the cut-offs in the Juvenile DermatoMyositis Activity Index (JDMAI) to distinguish the states of inactive disease (ID), low disease activity (LDA), moderate disease activity (MDA) and high disease activity (HDA) in children with juvenile dermatomyositis (JDM). METHODS: For cut-off definition, data from 139 patients included in a randomised clinical trial were used. Among the six versions of the JDMAI, JDMA1 ...

Opportunities to participate and compete in sports for athletes with intellectual disability (ID) have increased; however, this group still encounters limitations in accessing a comprehensive range of sports. This study addressed the current knowledge on how sport for people with ID is organized and the relationships between the major sport organizations for people with ID across 10 European countries. The participants were 29 national sport ...

This thesis utilizes Fire Dynamics Simulator (FDS 6.7.5) to explore the fire characteristics in an airtight and mechanically-ventilated enclosure. The goal is to enhance the understanding of liquid pool fire modelling in a forced-ventilated enclosure under various ventilation scenarios. New evaporation approaches are implemented in the source code of FDS and tested in various ventilation conditions. Key modelling factors are identified for ...

BackgroundThere is limited understanding of the context surrounding physical activity (PA) of young people with intellectual disabilities (ID), which has an impact on the development of PA promotion programmes. Peer social connectedness seems to be a vital correlate to focus on, but has not been included in current studies examining the correlates and determinants of PA levels of young people with ID. This study aims to synthesise the evidence ...

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in ...

Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function (LoF) variation in ZFHX3 as a cause for syndromic intellectual disability (ID). ZFHX3 is a zinc-finger homeodomain transcription factor involved in various biological processes, including cell differentiation and tumorigenesis. We describe 42 individuals with protein-truncating variants (PTVs) or (partial) ...