- Down syndrome and intellectual disability research
- Chronic Disease Management Strategies
- Frailty in Older Adults
- Epigenetics and DNA Methylation
- Medical Coding and Health Information
- Dementia and Cognitive Impairment Research
- Alzheimer's disease research and treatments
- Optical Imaging and Spectroscopy Techniques
- Diabetes and associated disorders
- GDF15 and Related Biomarkers
- Diabetes Management and Research
- Reading and Literacy Development
- Pancreatic function and diabetes
- Pluripotent Stem Cells Research
- Family and Disability Support Research
- Genetics and Neurodevelopmental Disorders
- Neuroscience, Education and Cognitive Function
- ECG Monitoring and Analysis
- Hip and Femur Fractures
- Neonatal and fetal brain pathology
- Cognitive and developmental aspects of mathematical skills
- Spatial Neglect and Hemispheric Dysfunction
- Hemispheric Asymmetry in Neuroscience
- Transcranial Magnetic Stimulation Studies
- Cholinesterase and Neurodegenerative Diseases
University College London
2013-2023
King's College London
2018-2023
Alzheimer’s Disease Neuroimaging Initiative
2023
Union Bank of Switzerland
2023
NeuroDevelopment Center
2018
Improvement in performance following cognitive training is known to be further enhanced when coupled with brain stimulation. Here we ask whether training-induced changes can maintained long term and, crucially, they extend other related but untrained skills. We trained overall 40 human participants on a simple and well established paradigm assessing the ability discriminate numerosity–or number of items set–which thought rely an “approximate sense” (ANS) associated parietal lobes....
This work quantifies the fatal burden of dementia associated with Alzheimer disease in individuals Down syndrome (DS).
Abstract Background Down syndrome (DS) is associated with variable intellectual disability and multiple health psychiatric comorbidities. The impact of such comorbidities on cognitive outcomes unknown. We aimed to describe patterns physical comorbidity prevalence, receptive language ability, in DS across the lifespan, determine relationships outcomes. Methods Detailed medical histories were collected abilities measured using standardised tests for 602 individuals from England Wales (age...
Abstract A population of more than six million people worldwide at high risk Alzheimer’s disease (AD) are those with Down Syndrome (DS, caused by trisomy 21 (T21)), 70% whom develop dementia during lifetime, an extra copy β-amyloid-(Aβ)-precursor-protein gene. We report AD-like pathology in cerebral organoids grown vitro from non-invasively sampled strands hair 71% DS donors. The consisted extracellular diffuse and fibrillar Aβ deposits, hyperphosphorylated/pathologically conformed Tau,...
Abstract Introduction Down syndrome (DS) is associated with an almost universal development of Alzheimer's disease. Individuals DS are therefore important population for randomized controlled trials to prevent or delay cognitive decline, though it essential understand the time course early changes. Methods We conducted largest study date 312 adults assess age‐related and disease–related changes during progression from preclinical prodromal dementia, clinical dementia. Results Changes in...
Abstract Objective Individuals with Down syndrome ( DS ) have an extremely high genetic risk for Alzheimer's disease AD ), however, the course of cognitive decline associated progression to dementia is ill‐defined. Data‐driven methods can estimate long‐term trends from cross‐sectional data while adjusting variability in baseline ability, which complicates assessment those . Methods We applied event‐based model test and informant‐rated questionnaire 283 adults (the largest study functioning...
Down syndrome (DS), caused by chromosome 21 trisomy, is associated with an ultra-high risk of dementia due to Alzheimer's disease (AD), driven amyloid precursor protein (APP) gene triplication. Understanding relevant molecular differences between those DS, sporadic AD (sAD) without and controls will aid in understanding development DS. We explored group plasma concentrations amyloid-β peptides tau (as their accumulation a characteristic feature AD) cytokines the inflammatory response has...
People with intellectual disabilities (ID) have many comorbidities but experience inequities in access to health care. National Health Service England uses an opt-in incentive scheme encourage annual checks of patients ID primary We investigated whether the first 3 years programme had improved care people ID.We did a longitudinal cohort study that used data from The Improvement Network database. multivariate logistic regression assess associations between various characteristics and or not...
<ns4:p><ns4:bold>Background:</ns4:bold>Down syndrome (DS), the most common genetic cause of intellectual disability, is associated with an ultra-high risk developing Alzheimer’s disease. However, there individual variability in onset clinical dementia and baseline cognitive abilities prior to decline, particularly memory, executive functioning, motor coordination. The LonDownS Consortium aims determine protective factors for development relating people DS. Here we describe our test battery...
Down syndrome (DS) is associated with intellectual disability and an ultra-high risk of developing dementia. Informant ratings are invaluable to assess abilities related changes in adults DS, particularly for those more severe disabilities and/or cognitive decline. We previously developed the informant rated Cognitive Scale Syndrome (CS-DS) measure everyday across memory, executive function, language domains finding CS-DS scores a valid general abilities, significantly lower noticeable...
Abstract Introduction People with Down syndrome (DS) typically develop Alzheimer's disease (AD) neuropathology before age 40, but a lack of outcome measures and longitudinal data have impeded their inclusion in randomized controlled trials (RCTs). Methods Cohort study. Event‐based dose‐response E max models were fitted to cognitive data, stage AD determine the earliest ages decline. Results informed sample size estimations for hypothetical RCTs disease‐modifying treatments that reduced...
Background: People with Down syndrome are at ultra-high risk of developing Alzheimer’s dementia. At present, there no preventative or curative treatments. Evidence from sporadic disease literature suggests that lifestyle factors including physical activity may help maintain cognitive and functional skills reduce dementia risk. Our study aimed to explore the association between regular exercise undertaken by participants changes in dementia-related domains cognition function. This was...
Abstract Introduction Adults with Down syndrome (DS) are at ultra‐high risk of developing Alzheimer's disease (AD), characterized by poor episodic memory and semantic fluency in the preclinical phase general population. We explored performance DS its relationship to age, AD, blood biomarkers. Methods A total 302 adults baseline 87 follow‐up from London Syndrome Consortium cohort completed neuropsychological assessments. Blood biomarkers were measured single molecule array technique a subset...
Abstract A population of >6 million people worldwide at high risk Alzheimer’s disease (AD) are those with Down Syndrome (DS, caused by trisomy 21 (T21)), 70% whom develop dementia during lifetime, an extra copy β-amyloid-(Aβ)-precursor-protein gene. We report AD-like pathology in cerebral organoids grown vitro from non-invasively sampled strands hair 71% DS donors. The consisted extracellular diffuse and fibrillar Aβ deposits, hyperphosphorylated/pathologically conformed Tau, premature...
<h3>Importance</h3> Risk of Alzheimer disease (AD) is particularly high for individuals with Down syndrome (DS). The ε4 allele the apolipoprotein E gene (<i>APOE </i>ε4) associated an additional risk AD. In typical development, there evidence that the<i>APOE </i>ε4 genotype early cognitive advantage. Here we investigate associations of<i>APOE attention across life span DS. <h3>Objective</h3> To between<i>APOE and attentional abilities in young children adults <h3>Design, Settings,...
Abstract Cells from people with Down syndrome (DS) show faster accumulation of DNA damage and epigenetic aging marks. Causative mechanisms remain un-proven hypotheses range amplified chromosomal instability to actions several supernumerary chromosome 21 genes. Plasma immunoglobulin G (IgG) glycosylation profiles are established as a reliable predictor biological chronological aging. We performed IgG glycan profiling n=246 individuals DS (208 adults 38 children) three European populations...
Abstract Objective Individuals with Down syndrome (DS) have an extremely high genetic risk for Alzheimer’s disease (AD) however the course of cognitive decline associated progression to dementia is ill-defined. Data-driven methods can estimate long-term trends from cross-sectional data while adjusting variability in baseline ability, which complicates assessment those DS. Methods We applied event-based model test and informant-rated questionnaire 283 adults DS (the largest study functioning...