Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

This study tested two new technologies—optical genome mapping and long-read DNA sequencing—against standard chromosome tests in 350 people with infertility, intellectual disability, birth defects, or miscarriage. The goal was to see if these newer methods can find more chromosome…

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 study tested a Turkish version of the Johns Hopkins In-Room Independence Scale, which measures a patient's ability to move, use the toilet, and think clearly while in their hospital room. Researchers worked with 100 adults who had conditions like stroke, Parkinson's, or ampu…

This study tested a special spatula designed to help dentists examine the teeth of people with mental disabilities who have behavioral issues. The goal was to see if the spatula makes it easier and safer to look inside the mouth. Two hundred participants were included, and the st…

This study looked at how common muscle and posture problems are in physiotherapy students and whether a special physiotherapy program could help. 44 students with back pain and muscle tightness received treatments like trigger point release, stretching, and joint mobilization. Th…

This study tested a new card game called 'Wai Ji Match Fun' designed for adults with mild to moderate intellectual disabilities. 60 participants played the game in weekly group sessions for 8 weeks. Researchers measured how feasible and acceptable the game was, and whether it imp…

This study looked at whether letting patients control their own sedation during arm surgery under regional anesthesia leads to higher satisfaction compared to having an anesthesiologist control it. 70 adults having upper limb orthopedic surgery were randomly assigned to either pa…

This study looked at whether a 5-week parenting training program could improve the quality of life and parenting skills for parents of children with intellectual disabilities. 141 parents from 11 special schools took part, with 71 receiving the training and 70 in a control group.…

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 translated the Generic Functional Index, a questionnaire that measures how well people can do daily activities, into Turkish. Researchers tested it with 200 adults who have muscle or joint problems to see if it is accurate and reliable. The goal is to give Turkish-spea…

This study tested a new prosthetic foot for children with leg amputations or birth defects. Thirteen kids walked with the device and gave feedback on stiffness and performance. The goal was to gather ideas to improve future foot designs.

This study tested whether specially trained physiotherapists can safely diagnose and treat non-urgent muscle and joint pain in the emergency room, compared to standard care from doctors. 102 patients with back, neck, or shoulder pain were randomly assigned to either a physiothera…

This study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…

This study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…

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 compared how well people with complex regional pain syndrome (CRPS), people with other muscle or bone pain, and healthy individuals can imagine movements. Researchers used a questionnaire called the MIQ-RS to measure motor imagery skills. The goal was to see …

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 surveyed 116 adults with chronic pain at a rehabilitation clinic to understand how their pain beliefs, spiritual well-being, and attitudes toward complementary and alternative medicine are related. Participants filled out several questionnaires about their pain, mood, …

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 …