Publications by authors named "J A van Geelen"

Unlabelled: This study aims to investigate and categorize health problems in children with profound intellectual and multiple disabilities (PIMD). We conducted a scoping review in five electronic databases (PubMed, Embase, Medline, PsychInfo, and Web of Science), including peer-reviewed studies that describe health problems in children with PIMD. Articles on PIMD were included when mentioning children with severe or profound intellectual disability (IQ/DQ < 35 or developmental age < 24 months) AND severe/profound motor impairment (GMFCS IV/V, non-ambulatory/not walking without support or gross motor function measure (GMFM-66) score < 40).

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Due to its rare nature and subtle dysmorphisms, Prader-Willi syndrome can be challenging to recognize and diagnose in the neonatal period. Feeding difficulties and hypotonia ('floppy infant') are the most striking characteristics. Prader-Willi syndrome requires specific follow-up and treatment, emphasizing the importance of early recognition.

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Article Synopsis
  • Mendelian neurodevelopmental disorders caused by chromatin modification gene variants are known as Mendelian disorders of the epigenetic machinery (MDEMs), often leading to symptoms like intellectual disability and obesity.
  • This study focuses on Kleefstra syndrome (KLFS), linked to a specific gene mutation (EHMT1), and investigates its metabolic and growth characteristics in 62 individuals.
  • Results show a concerning 60% prevalence of childhood overweight/obesity, common short stature, thyroid issues, and decreased bone mineralization, emphasizing the need for monitoring health and lifestyle in affected individuals.
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Human hands are complex biomechanical systems that allow for dexterous tasks with many degrees of freedom. Coordination of the fingers is essential for many activities of daily living and involves integrating sensory signals. During this sensory integration, the central nervous system deals with the uncertainty of sensory signals.

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