Publications by authors named "M M van Haelst"
Article Synopsis
- The study investigated the prevalence of obesity and metabolic syndrome (MetS) in 103 adults with a specific genetic condition (microdeletion 22q11.2), finding significantly higher rates of both compared to the general population.* -
- Among the participants, 32% had generalized obesity, 51.5% had abdominal obesity, and 33% had MetS, with these numbers contrasting sharply with population-based statistics.* -
- Age was identified as a key factor influencing obesity and MetS outcomes, with older age correlating positively with higher BMI and waist circumference, particularly in individuals not using antipsychotic medications.*
Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by CUL3 (Cullin-3 ubiquitin ligase) haploinsufficiency. We collected clinical and molecular data from 26 individuals carrying pathogenic variants and variants of uncertain significance (VUS) in the CUL3 gene, including 20 previously unreported cases.
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- ARID1A and ARID1B duplications are linked to Coffin-Siris syndrome, but ARID1B duplications have not been previously associated with a specific clinical phenotype until now.
- A study analyzed 16 cases of ARID1A and 13 cases of ARID1B duplications, revealing that ARID1A duplications resulted in more severe symptoms, including intellectual disabilities and growth delays, while both groups displayed similar features.
- The research identified unique DNA methylation patterns in ARID1A duplication patients, which differ from those with loss-of-function variants, suggesting the presence of a distinct clinical phenotype for both ARID1A and ARID1B duplications, indicating a new type of
Background: Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and require a multidisciplinary approach. The aim was to investigate the reporting of genetic diagnoses in multidisciplinary ID care and to identify associated clinical and demographic factors.
View Article and Find Full Text PDFOver the last 75 years, the field of Human Genetics has developed enormously. One of the recent developments involves health-related direct-to-consumer genetic tests (DTC-GTs), through which consumers gain insight in their genetic information and personal health risks without involvement of a health care professional. The DTC-GT market is diverse and dynamic, testing for continuously changing combinations of traits and DNA-variants that can affect personal health and disease.
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