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 conducting a study to understand bladder and bowel functions, participation, and quality of life in children aged 5 to 12 years with intellectual disabilities compared to typically developing children. This condition involves a range of urinary and bowel symptoms that often affect children with developmental challenges, impacting their daily life and well-being. The study aims to fill a gap in knowledge by evaluating these functions together along with child participation and parental quality of life. The study involves two groups children diagnosed with mild to severe intellectual disabilities and typically developing children within the same age range. Data will be collected through questionnaires assessing bladder and bowel dysfunction, child participation, and quality of life for both children and their parents. The study will be conducted as a cross-sectional observational assessment without any intervention. Participants will provide sociodemographic information and complete various validated questionnaires including the Childhood Bladder and Bowel Dysfunction Questionnaire, Dysfunctional Voiding and Incontinence Scoring System, and Pediatric Quality of Life Inventory. Parental quality of life will also be assessed. The study will help researchers understand how bladder and bowel issues affect participation and quality of life in these children. The total study duration extends until December 2026, with assessments occurring at baseline.

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 study aims to better understand brain activity and pain perception in individuals aged 8 to 30 years. This is important because people with ID often have physical disabilities that can cause pain, but little research has focused on their experience of pain. Participants will undergo tests measuring brain activity using devices like EEG and functional near-infrared spectroscopy. They will experience different stimuli such as heat, cold, brushing, and mild electrical sensations applied to their body. The study compares brain responses and physiological reactions like heart rate and skin conductance between individuals with ID and healthy controls. The devices include a thermal stimulator to deliver these sensations, and measurements will be taken from sensors placed on the head, chest, fingers, and breathing. Participants will have one visit lasting up to four hours, or those with ID may attend up to five shorter visits. They will complete assessments including physical exams, questionnaires about pain and sensory responses, and social behavior. Caregivers may assist with answering questions if needed. Researchers will measure brain activation, physiological signals, and behavioral responses to understand pain perception. This study aims to provide objective measures of pain in people with ID and healthy volunteers.

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.

Researchers are studying young adults aged 18 to 35 with mild-to-moderate intellectual disabilities who are overweight or obese. This study aims to see if adding hands-on cooking classes to a weight management program called Chef-ID helps participants lose more weight and maintain it better compared to a traditional weight loss program. The trial lasts 24 months and includes three phases 6 months of active support, 12 months of maintenance, and 6 months with no contact. Participants are randomly assigned to one of two groups. Both groups follow the enhanced stoplight diet and aim for at least 120 minutes of aerobic exercise plus 30 minutes of strength training weekly. All receive monthly coaching via Zoom using iPads and wearable fitness trackers for 18 months. One group attends in-person cooking classes twice a month for 6 months, then once a month for 12 months, learning cooking skills and safe kitchen use. The other group receives motivational video messages instead of cooking classes. Participants have weight measured at baseline, 6, 12, 18, and 24 months. Additional assessments include cooking skills, body fat, blood pressure, caregiver stress, and daily living skills collected during lab and home visits. Researchers will track changes in health markers and explore factors influencing weight loss. The study aims to improve support for healthy lifestyles in people with intellectual disabilities.

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 healthy children and those with 7q11.23 genetic variations, including Williams syndrome and 7q11.23 duplication syndrome. This observational study aims to understand the genetic effects on brain development by using magnetic resonance imaging MRI to observe brain changes over time in these groups. Participants will undergo a series of assessments including a physical exam and tests of memory, attention, concentration, and thinking. Parents will provide information about their childs personality, behavior, and social skills. Participants will complete approximately 10 hours of MRI scanning over 4 to 5 days within one month, involving tasks performed during scans. These procedures will be repeated every two years until participants reach 18 years of age. Throughout the study, participants will have regular evaluations including neuropsychological assessments and imaging studies such as structural MRI, functional MRI, and diffusion tensor imaging. Blood samples will be collected for genetic analysis. Researchers will measure brain structure and function changes, focusing on gray and white matter size and integrity, brain activity during tasks, and blood flow. The study is ongoing, with long-term follow-up planned into adulthood to track developmental brain changes.

Researchers are evaluating the effects of deutetrabenazine on tardive dyskinesia TD in adults with intellectual and developmental disabilities IDD who have not been previously treated for TD. This open-label Phase 4 study aims to compare treatment responses in this group to published results from patients without IDD. The study will also assess safety, changes in daily living activities, quality of life, and caregiver burden using validated measurement tools. Participants will receive deutetrabenazine oral capsules with doses titrated from 12 mg to 24 mg per day over 24 weeks. Those taking strong CYP2D6 inhibitors will maintain the 24 mg dose throughout. The study involves five visits baseline, 3 weeks, 6 weeks, 12 weeks, and 24 weeks. There is no comparison group instead, responses will be compared to previous research that led to FDA approval. During the study, participants will undergo assessments including the Abnormal Involuntary Movement Scale AIMS, caregiver and clinician global impression scales, and questionnaires measuring activities of daily living, quality of life, caregiver burden, and impact of TD. Researchers will monitor safety, adherence, and treatment effects over the 24-week period. The total involvement includes scheduled visits and evaluations to track changes from baseline through the treatment duration.