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 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 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 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.

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 Skne 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.