Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive

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 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 pilot study tested a community-based group programme called 'Encompass' for parents of children under 5 with complex neurodisability. Fifteen parents in East London attended ten group sessions over six months. The study aimed to see if the programme was feasible and acceptab…

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 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 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 …