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. This research aims to understand the biological and clinical aspects of MDS, including its progression to acute leukemia, which occurs in 30 to 40% of cases. The study focuses on the genetic and molecular diversity of MDS and seeks to identify markers predicting disease progression through a biocollection. The study involves collecting and analyzing biological material from patients diagnosed or suspected of having MDS. It explores three key scientific projects: splicing abnormalities related to SF3B1 mutations, the role of chromosomal deletions such as 5q affecting splicing genes RBM22 and SLU7, and the progression of MDS to acute myeloid leukemia by studying the clonal architecture of malignant cells. These projects use advanced genetic and molecular analysis techniques to deepen understanding of MDS mechanisms. Participants provide biological samples and clinical data, which are used for detailed genetic and functional studies. The study monitors patients over time to observe disease evolution and identify prognostic markers. The primary outcome is an epidemiologic study of the MDS patient cohort over five years. Participation includes consenting to data and sample collection, enabling researchers to analyze molecular changes and better understand MDS progression and prognosis.

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 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 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 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.

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.