Smith-Magenis 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.

Myelodysplastic syndromes MDS are chronic blood disorders marked by ineffective blood cell production and normal marrow richness. MDS affects mostly older adults and carries a risk of progressing to acute leukemia in 30 to 40% of cases. This study aims to build a biocollection to better understand the clinical and biological markers that predict progression to acute myeloid leukemia by studying subgroups of MDS patients with different genetic and chromosomal characteristics. The study involves collecting biological samples and clinical data from patients diagnosed with or suspected of having MDS. Researchers will investigate specific genetic mutations affecting RNA splicing, particularly mutations in the SF3B1 gene, and chromosomal deletions such as 5q deletion. The study focuses on three scientific projects exploring splicing abnormalities, the impact of chromosomal deletions on disease progression, and the clonal architecture in patients progressing to leukemia. Participants will provide biological material collected at the research center, and clinical data will be gathered during diagnosis and follow-up visits. The research team will perform detailed molecular analyses, including RNA sequencing, protein detection, and enzymatic studies to understand the disease mechanisms. The primary outcome is an epidemiologic study of the MDS cohort over five years, aiming to identify prognostic markers and improve understanding of MDS progression. Participation may last several years, with ongoing data and sample collection.

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 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 studying RAI1-related disorders, including Smith-Magenis syndrome and Potocki-Lupski Syndrome, to better understand disease features and identify clinical, neurophysiological, and molecular biomarkers. These biomarkers can help diagnose, monitor treatment response, and track disease progression. Currently, there are no genetic-based treatments or established biomarkers for these conditions, so this observational and laboratory study aims to fill that gap. Participants include patients with RAI1-related disorders and healthy family members as controls. Patients will undergo clinical examinations, blood draws, and some may have a sleep study or optional skin biopsy. The sleep study records brain waves, oxygen levels, heart rate, and movements during an overnight stay. Blood samples will be used for molecular biomarker research, and skin biopsies may create cell lines for laboratory study. Participants will complete a one-time visit that may include overnight monitoring for the sleep study. Assessments include medical history, physical and neurological exams, vital signs, sleep and EEG studies, blood draws, and optional skin biopsies. Researchers will compare patient and control blood samples to identify biomarkers. The study measures neurological findings, sleep abnormalities, and molecular markers related to RAI1. Participation may last one day with possible additional visits if needed.

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 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.

Around 15% of people worldwide have some form of disability, and ensuring proper health care is a key right supported by the United Nations. People with intellectual disability ID often face challenges in detecting vision problems, as no caregiver-friendly tools currently exist to help identify common eye conditions in this group. This study aims to address this gap by focusing on adults with ID to improve vision health assessment. The study will develop a detailed collection of eye conditions seen in adults with intellectual disability and create a scale that caregivers can use to detect these conditions. This scale will then be tested for reliability, validity, and how well it responds to changes over time. The project will last for one year and does not involve any medical intervention. Participants, who are primary caregivers of adults with ID, will provide socioeconomic data and complete assessment scales within the first three months. Additionally, eye examinations of adults with ID will be conducted during this period. The study focuses on gathering information to validate the new caregiver assessment tool for eye disorders in adults with intellectual disability.