A5042902609- Down syndrome and intellectual disability research
- Chronic Disease Management Strategies
- Frailty in Older Adults
- Epigenetics and DNA Methylation
- ECG Monitoring and Analysis
- Cerebral Palsy and Movement Disorders
- Alzheimer's disease research and treatments
- Data Mining Algorithms and Applications
- Autism Spectrum Disorder Research
- Medical Coding and Health Information
- EEG and Brain-Computer Interfaces
- Dementia and Cognitive Impairment Research
- Hearing Loss and Rehabilitation
- Genetics and Neurodevelopmental Disorders
- Gaze Tracking and Assistive Technology
- Hip and Femur Fractures
- Assistive Technology in Communication and Mobility
- Skin and Cellular Biology Research
- Intensive Care Unit Cognitive Disorders
- Neuroscience and Music Perception
- Behavioral and Psychological Studies
- Schizophrenia research and treatment
- Optical Imaging and Spectroscopy Techniques
- GDF15 and Related Biomarkers
- Amyotrophic Lateral Sclerosis Research
University College London
2015-2023
King's College London
2018-2023
University of Roehampton
2021-2023
Alzheimer’s Disease Neuroimaging Initiative
2023
Union Bank of Switzerland
2023
University of York
2020
University of Surrey
2018
UCL Australia
2010
<ns4:p>In this article, we first present a summary of the general assumptions about Down syndrome (DS) still to be found in literature. We go on show how new research has modified these assumptions, pointing wide range individual differences at every level description. argue that, context significant increases DS life expectancy, focus trisomy 21 all levels—genetic, cellular, neural, cognitive, behavioral, and environmental—constitutes one best approaches for understanding genotype/phenotype...
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,...
Adjuvant cancer chemotherapy can cause long-lasting, cognitive deficits. It is postulated that these impairments are due to drugs targeting neural precursors within the adult hippocampus, loss of which has been associated with memory impairment.The present study investigates effects chemotherapy, methotrexate (MTX) on spatial working and proliferation survival involved in hippocampal neurogenesis, possible neuroprotective properties antidepressant fluoxetine.Male Lister hooded rats were...
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...
<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) may be considered a genetic form of Alzheimer's disease (AD) due to universal development AD neuropathology, but diagnosis and treatment trials are hampered by lack reliable blood biomarkers. A potential biomarker is neurofilament light (NF-L), its association with axonal damage in neurodegenerative conditions.We measured NF-L concentrations 100 adults DS using Simoa NF-light® assays, we examined relationships age as well cross-sectional longitudinal dementia...
Down syndrome (DS) is the most common genetic cause of intellectual disability (ID). Abilities relating to executive function, memory and language are particularly affected in DS, although there a large variability across individuals. People with DS also show an increased risk developing dementia. While assessment batteries have been developed for adults assess cognitive abilities, these may not be suitable those more severe IDs, dementia, or visual / hearing difficulties. Here we report...
People with Down syndrome (DS) show clinical signs of accelerated ageing. Causative mechanisms remain unknown and hypotheses range from the (essentially untreatable) amplified-chromosomal-instability explanation, to potential actions individual supernumerary chromosome-21 genes. The latter explanation could open a route therapeutic amelioration if specific over-acting genes be identified their action toned-down.
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 Individuals with Down syndrome (DS) show high inter-subject variability in cognitive ability and have an ultra-high risk of developing dementia (90% lifetime prevalence). Elucidating factors underlying function can inform us about intellectual disability (ID) may improve our understanding associated later decline. Increased neuronal inhibition has been posited to contribute ID DS. Combining electroencephalography (EEG) dynamic causal modeling (DCM) provides a non-invasive method for...
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...
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...
Abstract Background Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) worldwide. Understanding electrophysiological characteristics associated with DS provides potential mechanistic insights into ID, helping inform biomarkers and targets for intervention. Currently, remain unclear due to methodological differences between studies inadequate controls cognitive decline as a cofounder. Methods Eyes-closed resting-state EEG measures (specifically delta, theta,...
Females outperform males on many social cognitive tasks. X-linked genes may contribute to this sex difference. Males possess one X chromosome, while females two chromosomes. Functional variations in are therefore likely impact more than females. Previous studies of X-monosomic women with Turner syndrome suggest a genetic association facial fear recognition abilities at Xp11.3, specifically single nucleotide polymorphism (SNP rs7055196) within the EFHC2 gene. Based strong hypothesis, we...
Down syndrome (DS) is the most common genetic cause of intellectual disability. There however considerable variation in cognitive abilities between those with DS, some individuals scoring at floor on tests, particularly for age-standardised outcomes. This and these effects can pose a problem comparing combining study populations when different standardised measures have been used to assess individuals' abilities, example results across studies investigate or other factors associated...
<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,...
The general appearance of the innervation samples skin from 10 young beagles was studied by using pan‐neuronal immunolabel PGP9.5, and quantitative data on density nerve fibres obtained. provide a baseline for development diagnostic test small fibre neuropathy in domestic dogs.