J Autism Dev Disord
September 2024
Currently, there are no existing measures to screen for or diagnose Social (Pragmatic) Communication Disorder (SPCD). We conducted an exploratory factor analysis (EFA) of the Social Communication Disorder Screener (SCDS), a 14-item, parent-report measure based on the DSM-5 diagnostic criteria for SPCD. This EFA examined the internal consistency and factor structure of the SCDS for a sample of 500 parents of children, ages 5-18 years, representative of the U.
View Article and Find Full Text PDFCornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple organ systems and is characterized by distinctive facial features, growth retardation, and developmental disabilities. The syndrome is caused by mutations in genes (, , , , and ) involved in the cohesin complex, which plays a critical role in chromosome segregation and gene expression regulation. Clinical findings typically include dysmorphic facial features (arched eyebrows, synophrys, long eyelashes, ptosis, long philtrum, thin upper lip, and posteriorly rotated ears), growth and mental retardation, upper limb defects (clinodactyly and limb deficiencies), gastrointestinal complications (gastroesophageal reflux, pyloric stenosis, diaphragmatic hernia, malrotation, and volvulus), and heart defects (ventricular and atrial septal defects).
View Article and Find Full Text PDFMechanical small-bowel obstruction can occur due to various reasons, including the impaction of a gallstone in the ileum after it has passed through a cholecystoenteric fistula. Gallstone ileus is an infrequent yet significant cause of this condition. This case report documents an instance of gallstone ileus, which accounts for less than 1% of patients with mechanical small bowel obstruction.
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