Fragile X 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.

Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome, leading to differences in brain activity and sensory processing. Researchers are exploring how altered brain rhythms, particularly in alpha and gamma waves, affect cognitive function and sensory sensitivity in individuals with FXS. This research aims to understand these brain activity changes better and test a new approach to improve cognitive function and reduce sensory overload in youth with developmental disorders. The study involves an intervention called Alpha Auditory Entrainment (AAE), which uses special sounds played through headphones to try to normalize brain activity. Participants will be randomly assigned to receive either the AAE stimulus or a sham stimulus (a carrier tone without the entrainment frequencies). The study includes youth aged 5 to 10 years in three groups: those with Fragile X Syndrome, those with Autism Spectrum Disorder, and typically developing controls. The AAE intervention targets brain waves from high theta to high alpha frequencies, aiming specifically for 10 Hz. Participants will be assessed on their brain responses and cognitive performance, including a Word Learning Index during a Statistical Learning Passive Task, measured one week after the intervention. The study uses EEG to monitor brain activity and evaluates sensory and cognitive functions. The trial is randomized and quadruple-masked to ensure unbiased results. Overall involvement includes baseline assessments, the auditory entrainment or sham sessions, and follow-up testing to measure changes in brain activity and learning ability over the study period.

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.

The Brain Imaging in Babies Study (BIBS) aims to better understand how a baby's brain develops from before birth up to 3 to 4 years old. It includes children from diverse backgrounds and uses advanced tools like MRI scans along with behavioral assessments to gather early information on infant brain development. The study also seeks to identify early brain features that might help predict if a child will develop traits of conditions such as Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD). Since 2020, the study has included testing for COVID-19 in mothers and babies to explore how infections affect development. This observational study involves pregnant mothers with and without confirmed COVID-19 and their infants, including those with and without a family history of ASD or neurodevelopmental conditions. The study uses safe MRI scanning, which produces detailed brain images without X-rays. Participants are based in England, UK, and the study welcomes a broad range of participants to capture diverse developmental data. Participants will undergo MRI scans and behavioral assessments to evaluate brain development and neurodevelopmental outcomes by 3 to 4 years of age. The research team monitors children's development over time, including COVID-19-related factors in mothers and babies. The study continues to collect data until 2028 to provide long-term insights into early brain growth and developmental conditions.

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.

Researchers are conducting a prospective natural history study focusing on children aged 6 to 21 years who have CNKSR2 mutations causing epilepsy aphasia syndrome (EAS) and intellectual disability (ID). The study aims to characterize the electroclinical, neurodevelopmental, and behavioral features of this condition. The collected data will serve as an external control for future clinical trials testing precision medicine treatments designed to improve seizures and neurodevelopmental outcomes in these patients. Participants will be observed without receiving investigational treatments, as this is an observational study. The research includes repeated assessments using advanced brain imaging techniques such as resting-state functional magnetic resonance imaging (fMRI), magnetoencephalography (MEG), and electroencephalography (EEG). These assessments occur at baseline, 12 months, and 24 months to track changes in brain connectivity, brain activity, and cortical responses related to speech and auditory feedback. During the study, children will undergo various evaluations including neurodevelopmental tests like the Bayley Scales of Infant and Toddler Development, Wechsler intelligence scales, Vineland Adaptive Behavior Scales, and attention and quality of life rating scales. These evaluations are scheduled across multiple time points over two years. Researchers will monitor changes in seizure-related brain activity, cognitive and behavioral functioning, and quality of life. The study is sponsored by the University of California, San Francisco, and aims to provide detailed natural history data to support future therapeutic trials.

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.