ARID1B-related disorders constitute a clinical continuum, from classic Coffin-Siris syndrome to intellectual disability (ID) with or without nonspecific dysmorphic features. Here, we describe an 11-year-old boy with an ARID1B mutation whose phenotype changed from severe developmental delay and ID to a complex neurodevelopmental disorder with multidimensional impairments, including normal intelligence despite heterogeneous IQ scores, severe motor coordination disorder, oral language disorder and attention-deficit/hyperactivity disorder. Phenotypic changes occurred after early intensive remediation and paralleled the normalization of myelination impairments, as evidenced by early brain imaging.
View Article and Find Full Text PDFBackground: Emergency Departments (ED) have seen an increasing number of older patients who are mostly referred following a call to the Emergency Medical Services (EMS). Long waiting times in settings, which are not designed to meet older patients' needs, may increase the risk of hospital-acquired complications. Unnecessary visits should therefore be avoided as much as possible.
View Article and Find Full Text PDF