Sotos 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.

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 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.

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.

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.

This research aims to explore adaptive physical activity for young people with intellectual disabilities, focusing on understanding the theory, practice, and strategies for exercise suited to this group. It studies their sports and health needs, investigates adaptive physical activities empirically, and seeks ways to support their scientific exercise and social integration. The goal is to improve fitness, fundamental movement skills, and overall health for these students. Participants are divided into two groups: one receives a six-month adaptive physical activity program involving aerobic exercise three times a week at 40-80% maximum heart rate, with family support to encourage exercise. The other group continues their usual physical education and daily habits without changes. The study is randomized and triple-blinded to compare the effects of these approaches on health-related fitness. Throughout the study, researchers assess muscular strength, endurance, body mass index, body fat percentage, flexibility, cardiopulmonary fitness, and fundamental movement skills using standardized tests over six months. They also measure sleep quality, physical activity levels, quality of life, enjoyment of physical activity, autism symptom severity, and sleep disturbances. This comprehensive evaluation aims to understand how adaptive physical activity impacts health and daily functioning in students with intellectual disabilities.

Physical inactivity is a growing concern generally and is even more common among people with disabilities, such as autism, intellectual, or physical disabilities. Researchers are evaluating the effects and cost-effectiveness of Physical Activity on Prescription (PAP), a method to increase physical activity, in physically inactive children, adolescents, and adults with these disabilities. The study is conducted in the Region of Skåne and aims to include a broader group than previous studies, including children aged 8 to 17 and adults. Participants will choose physical activities suited to their interests and abilities, such as walking, cycling, swimming, or gardening. These activities are prescribed by clinical physiotherapists who conduct the PAP intervention, supported by motivational interviewing. The intervention lasts for 3 months after two baseline periods spaced 3 months apart, with assessments immediately after and at 6, 12, and 24 months. Activity is logged daily, and participants act as their own controls for comparison. Throughout the study, physical activity is measured both subjectively using questionnaires and objectively with accelerometers. Quality of life, goal achievement, and costs related to the intervention are also tracked through questionnaires and health care data. Data collection occurs before, during, and up to 24 months after the intervention to evaluate long-term effects. The study has ethical approval and uses digital systems to securely gather and analyze participant data.

This research focuses on patients with intellectual disabilities and severe multiple disabilities treated at the MZEB Aachen, a German University Center. The study examines patient characteristics, involved healthcare providers including physicians and therapists, therapies offered, and disease progression. The center applies a multidisciplinary approach established since November 2018 to improve care for patients with disabilities in Germany. Patients receive standard treatment within the center, supported by a team of physicians, nurses, physiotherapists, occupational therapists, speech therapists, and social workers. The center collaborates with other therapists and physicians in the surrounding community. The study collects data on therapies and diagnoses over a long-term period. Participants are observed over time with assessments comparing baseline data and data after one year of treatment. Researchers measure changes in the number of therapy sessions and changes in diagnoses. This observational registry tracks disease progress and healthcare involvement. The study is open to adults aged 18 to 80 years and involves no experimental drug or intervention beyond routine care.