Williams Syndrome

Adults with intellectual disabilities often face challenges in social situations due to difficulties in processing social information, especially in recognizing facial emotions. This research evaluates a cognitive remediation program called Re9habilitus, designed to improve attentional and visuospatial functions to reduce behavioral disorders in adults with intellectual disabilities who do not have autism spectrum disorder. The study aims to validate whether this program can help address specific cognitive and behavioral issues in daily life for this population. Participants are randomly assigned to either the Re9habilitus cognitive remediation program, which focuses on improving attention and spatial perception related to social behavior, or to a control group engaging in manual activities and computer-based research tasks. The study compares these two approaches to assess their effects on behavioral disorders and cognitive functions. During the study, participants are assessed on changes in hyperactivity and non-compliance behaviors using the Aberrant Behavior Checklist scale over six months. Researchers also measure improvements in facial emotion recognition and attentional functions at the start, end, and six months after the intervention. The total participation time and safety monitoring details are aligned with the evaluation periods, ensuring thorough follow-up to observe lasting effects.

Cerebral palsy (CP) is a condition caused by brain injury in babies that affects movement and muscle tone. Some children with CP may have other developmental challenges like learning difficulties, but many have mostly motor skill issues. This study aims to reduce the age at which CP is diagnosed by using new and specific assessments in high-risk infants, such as those born prematurely or with brain injuries. It also seeks to better predict which children might need support for learning, language, or other developmental outcomes. The research is coordinated by University College Cork and supported by Research Ireland and the Cerebral Palsy Foundation, USA. The study compares two groups: a high-risk group of infants with factors like prematurity or hypoxic-ischaemic encephalopathy, and a control group of healthy term infants who did not require neonatal intensive care. Participants will be assessed in outpatient clinics using novel examinations to track their development. The study will take place at multiple hospitals in Ireland and will monitor infants from near term up to 24 months corrected gestational age. During the study, infants will have regular assessments at various time points, including near term to 4 months corrected gestational age, birth to 6 weeks, and 4 to 24 months. Researchers will evaluate motor and intellectual outcomes over a five-year period with follow-ups at 4 and 18 months. Guardians will provide consent and comply with study requirements, and the team will observe the infants' progress to better understand early signs of CP and developmental impairments.

Researchers are investigating bladder and bowel functions, participation levels, and quality of life in children with intellectual disabilities aged 5 to 12 years. This study addresses a gap in research by examining these factors together in children with intellectual disability, including those attending Special Education and Rehabilitation Centers, compared to typically developing children. Intellectual disability and related neurodevelopmental and psychiatric conditions often impact bowel or bladder dysfunction, which in turn affects daily life and well-being. The study includes two groups: children with mild to severe intellectual disabilities and typically developing children, both aged 5 to 12. Assessments will use questionnaires such as the Childhood Bladder and Bowel Dysfunction Questionnaire, Dysfunctional Voiding and Incontinence Scoring System, and the Lower Urinary Tract Symptom Score to evaluate bladder and bowel function. Child participation will be measured with the Child and Adolescent Scale of Participation, while parental quality of life and children's quality of life related to gastrointestinal symptoms will be assessed using the Nottingham Health Profile and Pediatric Quality of Life Inventory - Gastrointestinal Symptoms Module, respectively. Participants and their parents will provide sociodemographic information including age, height, weight, marital status, and education level. The study involves baseline evaluations using various symptom and participation scales to measure bladder and bowel function and quality of life. This cross-sectional observational study started in September 2025 and will conclude in December 2026. It aims to better understand the challenges faced by children with intellectual disabilities and their families, providing important insights into their health and daily functioning.

Researchers are studying individuals diagnosed with Williams syndrome (WS) or carrying other variants of the 7q11.23 chromosome region to better understand their development, health, behavior, and transition to adulthood. This observational natural history study also aims to build a DNA and tissue biobank with samples from affected individuals. It includes multiple study arms that focus on genetic factors, development, health outcomes, sleep, and caregiver stress related to WS and related conditions. Participants may take part in one or several parts of the study. These include genetic and phenotype analysis with blood or saliva samples, a biobank for future research tools, developmental assessments of language and cognitive skills, a transition to adulthood program for ages 14 to 25 with in-person visits, a study of physical and mental health outcomes in adults, and investigation of sleep difficulties and daily activity in WS. Each arm has specific participation requirements and goals. Participants and their families will provide biological samples and medical records for review. They will complete assessments of medical, behavioral, and quality of life factors over an average of five years. The study also evaluates caregiver stress and resilience. Participants can expect questionnaires, clinical record reviews, and possible in-person visits depending on the arm. The research aims to improve knowledge of WS and related conditions through comprehensive long-term observation and sample collection.

Researchers are studying how people with intellectual disability (ID) respond to unpleasant sensations compared to those without ID. The goal is to understand brain activity and pain perception in individuals aged 8 to 30 years with ID versus healthy volunteers. This research addresses the gap in knowledge about pain experiences in people with ID, who often have additional physical disabilities affecting their nerves, bones, muscles, and gastrointestinal systems. The study involves a special device called the TSA2 Thermosensory Stimulator to provide heat, cold, brushing, and mild electrical stimuli to various body parts. Brain responses will be measured using electroencephalography (EEG) and functional near-infrared spectroscopy (fNIRS). Participants will wear a sensor cap and have sensors placed on their chest, fingers, and around their body to monitor heart rate, breathing, sweat, and brain activity during the stimuli. There are two groups: individuals with intellectual disability and healthy controls. Participants will attend one visit lasting up to four hours, though those with ID may have up to five shorter visits. They will undergo tests to assess intellectual disability level, physical exams, and answer questions about pain, sensory responses, and social behavior. Caregivers may assist if needed. The study will measure brain activation, physiological responses like heart rate and skin conductance, and behavioral reactions to stimuli. The primary outcome is to provide a quantitative measure of pain perception by the study's end.

Researchers are evaluating the safety, tolerability, and early effects of a single intrathecal injection of a dual vector AAV-CHD3-R1025W base editor in children aged 2 to 10 years with developmental disorders caused by the R1025W mutation in the CHD3 gene. This early phase 1 study focuses on developmental delay disorder, intellectual disability, and rare diseases linked to this specific genetic mutation. The treatment involves delivering the base editor using a dual vector adeno-associated virus (AAV) system through an intrathecal injection, which introduces the gene-editing therapy directly into the spinal fluid. During treatment, children's vital signs are closely monitored to detect any immediate adverse effects. After the injection, participants are followed regularly to track the success of gene editing and observe any improvements in neurodevelopment. Long-term safety is also assessed through ongoing monitoring of possible adverse events. Participants will undergo assessments over a 26-week period to measure safety and preliminary efficacy. The main outcome is the incidence of serious adverse events related to the treatment within this timeframe. Additional evaluations include changes in clinical global impression scales and patient global impressions of improvement. The study involves close monitoring of vital signs, immune function, and neurodevelopmental progress to ensure thorough evaluation throughout the trial period.

Researchers are conducting the Collaboration for Down Syndrome Progress (CDP), a long-term observational study that follows people with Down syndrome across all ages. The study aims to better understand the health, development, and everyday experiences of individuals with Down syndrome over time. It collects consistent data across multiple sites to learn why certain health conditions are more common in this population and how to improve their care and quality of life. Participants complete standardized assessments including medical history, neurobehavioral evaluations, physical exams, and review of health records. Biological samples such as blood, saliva, and tongue swabs are collected to study genetics and other biological markers. Optional activities include sleep studies, activity monitoring with wearable devices, brain imaging using MRI, and metabolic and endocrine tests. These data and samples are stored and shared with researchers to support future studies. Participants and their caregivers provide information through questionnaires and clinical assessments at multiple visits. The study monitors enrollment over four years and collects data to track health and developmental changes. Optional subsample studies allow for deeper evaluation in areas like sleep, movement, brain structure, and metabolism. The study ensures data privacy and aims to advance understanding of co-occurring health issues in Down syndrome to guide better clinical care and research.

This research aims to find out if adding hands-on cooking classes to a weight management program helps young adults with mild-to-moderate intellectual disabilities lose more weight and keep it off compared to a traditional weight loss program. The study will last 24 months and include 114 participants aged 18 to 35 years. Researchers will also examine changes in cooking skills, body fat, health markers like blood pressure and cholesterol, daily living skills, and caregiver stress. Participants will be randomly assigned to one of two groups. Both groups will follow the enhanced stoplight diet and aim for at least 120 minutes of aerobic exercise and 30 minutes of strength training weekly. All participants receive an iPad with exercise videos, a fitness tracker, and monthly Zoom meetings with a health coach for 18 months. The group with cooking classes will attend in-person sessions twice a month for the first 6 months and once a month for the next 12 months, learning safe cooking skills and meal preparation. The other group will receive motivational video messages instead. Participants will be involved in regular weight measurements at 0, 6, 12, 18, and 24 months. They will also undergo assessments of cooking skills, body fat, blood pressure, and caregiver stress during lab and home visits. Researchers will track progress over 18 months of active and maintenance support, followed by 6 months with no contact. The study will explore how cooking skills relate to long-term weight loss and overall health in this community.

Researchers are creating a database of healthy adult subjects aged 18 to 65 years to study brain structure and function using advanced imaging techniques. This project, part of the European Human Brain Project, focuses on healthy individuals to better understand brain activity and metabolism through a multimodal approach involving MRI, PET, and electrophysiology. The goal is to provide valuable data for scientific collaboration on epilepsy and brain health. Participants will undergo a 18F-FDG PET brain imaging exam, which measures glucose metabolism in the brain by using a small amount of radioactive tracer injected intravenously. The scan lasts about 45 minutes and captures a three-dimensional image at rest, allowing researchers to quantify brain glucose consumption and connectivity. This is a non-therapeutic study involving a single imaging procedure performed at baseline, with a follow-up measurement planned 24 months later. During the study, participants will be monitored through imaging and assessments of cerebral glucose consumption and metabolic connectivity at baseline and after 24 months. The PET scans are part of routine clinical procedures with established safety profiles, and all participants must provide informed consent. The study lasts over two years, including the initial scan and long-term follow-up, aiming to enhance understanding of healthy brain metabolism and function.

Researchers are investigating how the brain develops during childhood and adolescence, focusing on children with 7q11.23 genetic variations such as Williams syndrome and 7q11.23 duplication syndrome, as well as healthy children. The study aims to understand how these genetic differences affect brain structure and function over time, using magnetic resonance imaging (MRI) to track changes and link brain features to genetic factors. This work builds on previous research in adults and seeks to learn about brain development from childhood through adulthood. Participants include children and adolescents aged 5 to 17 years with Williams syndrome, 7q11.23 duplication syndrome, other related genetic variations, and typically developing children. The study involves extensive MRI scanning totaling about 10 hours over 4 to 5 days within a month, including tasks performed inside the scanner. Additional assessments include genetic blood tests for parents, neuropsychological tests, and behavioral evaluations. Participants are invited to return every two years until age 18 for follow-up imaging and assessments. During the study, children will undergo physical exams and tests of memory, attention, and thinking skills. Parents will provide information about their child's behavior and social skills. The main measurements include MRI-based brain structure and function evaluations, such as brain tissue volume and blood flow, alongside cognitive and emotional processing assessments. The research will track brain changes longitudinally, with repeat studies every two years, continuing after participants turn 18 to understand brain development into adulthood.