Williams syndrome

This study tested a drug called clomastine fumarate in 28 children aged 3-12 with Williams syndrome, a genetic condition that causes developmental delays. The goal was to see if the drug could improve thinking, movement, and social skills by repairing brain myelin. The study used…

This study tested whether minoxidil, a blood pressure medicine, can improve blood vessel health in children with Williams-Beuren syndrome. The condition causes weak blood vessels due to a missing gene. 21 children took minoxidil or a placebo for 12 months, and researchers measure…

This study tested whether an iPad game (Play.Care) could help diagnose autism spectrum disorder (ASD) in children aged 2.5 to 5 years. The game measures how children move while playing, since movement differences may be early signs of autism. Researchers compared the game's resul…

This completed trial tested a 5-session group program for siblings and parents of children with chronic illness. The goal was to improve sibling mental health, family communication, and quality of life. 288 families participated, with some receiving the program immediately and ot…

This study looked at how stretchy the skin and blood vessels are in people with Williams syndrome, a genetic condition that can cause heart problems. Researchers measured skin and pulse speed in 43 participants aged 5 to 70. The goal was to learn how these tissues change over tim…

This study used PET scans to measure blood flow in the frontal lobe while participants performed thinking tasks. It included healthy volunteers and people with schizophrenia or Parkinson's disease. The goal was to understand how the frontal lobe works during cognitive activities …

This study looked at how blood vessel stiffness affects organs like the heart, brain, kidneys, and gut in people with Williams Syndrome (WS) or supravalvular aortic stenosis (SVAS). Researchers compared 159 participants (ages 3–85) with these conditions to healthy volunteers over…

This study used advanced brain imaging (MRI and MEG) to look for differences in brain structure, chemistry, and activity between people with schizophrenia and healthy volunteers. Over 3,200 adults took part. The goal was to better understand the brain changes linked to schizophre…

This study collected DNA, tissue, and medical history from 305 people with Williams syndrome or supravalvar aortic stenosis (SVAS), as well as their family members and healthy volunteers. The goal was to create a resource for future research to understand why symptoms vary so muc…

This study tested a new parent questionnaire called ORALQUEST to assess feeding and eating disorders in children aged 9 months to 6 years. Researchers included 338 children with chronic conditions like heart defects or autism, as well as those with picky eating. The goal was to s…

This completed study looked at whether children with neurodevelopmental disorders (like mitochondrial disease, cerebral palsy, or developmental delay) have fewer small nerve fibers in their skin, which could cause pain. Researchers took small skin biopsies from 203 children—some …

This study tested a set of questions to better identify suicide risk in young people aged 8–17 with autism or other neurodevelopmental disorders. Researchers asked 278 participants and their parents about thoughts of self-harm and understanding of death. The goal was to create a …