Articles tagged with Down Syndrome
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
Research at the University of Colorado Anschutz Linda Crnic Institute found significant alterations in liver metabolism among individuals with Down syndrome, including elevated bile acids and biomarkers of liver dysfunction. The study suggests that dietary interventions may help improve health outcomes.
Researchers are conducting a 5-year study to understand how children with Down syndrome develop expressive communication skills, including gestures, sounds, and spoken words. The team aims to create a personalized guide for families and professionals to provide tailored support.
A study published in Alzheimer's & Dementia found that long-term pharmacological treatment improves memory alterations and inflammation in mice models for Down syndrome. The treatment targets the CB1 receptor, which is involved in neuronal connections and memory, and shows positive results even when age-related neurodegeneration is added.
Researchers used CRISPR technology to identify HMGN1, a nuclear binding protein that contributes to trisomy 21-related CHDs. The study found that an overabundance of HMGN1 leads to abnormal heart development and gene expression.
Researchers at Gladstone Institutes discover a gene called HMGN1 that disrupts DNA packaging and regulation, leading to heart malformations in people with Down syndrome. Removing the extra copy of HMGN1 from mice with Down syndrome prevents heart defects, paving the way for potential treatments.
Scientists found a promising candidate, pleiotrophin, which is essential for brain development and function; restoring it may improve brain circuits in individuals with Down syndrome and other neurological diseases. The study's findings suggest using modified viruses to deliver the protein directly into cells could lead to new treatments.
A study by researchers at the University of São Paulo identified high levels of neuroinflammation in young individuals with Down syndrome, contributing to the high prevalence of Alzheimer's disease. The discovery paves the way for disease prevention strategies and personalized treatments.
Researchers mapped physiological differences in individuals with Down syndrome across the lifespan, identifying unique effects of trisomy 21 on childhood, adolescence, and adulthood. The study highlights the need for personalized medicine tailored to different life stages.
Researchers at Stowers Institute for Medical Research have identified the precise location where human chromosomes break and recombine to form Robertsonian chromosomes. The study reveals that repetitive DNA sequences play a central role in genome organization and evolution, explaining how these rearrangements form and remain stable.
A study found that expectant mothers are often left to navigate decisions on prenatal screening for Down syndrome without sufficient information or emotional support. The research highlights the need for a national pathway to support families and provide clear information about screenings.
Researchers found the treatment to be safe in all 29 children, with no serious adverse events. The device showed striking reductions in sleep apnea events, with over 95% of children achieving an OAHI reduction of more than 50%. This study provides hope for parents and offers implications for FDA approval and future trials.
Researchers at the University of Arizona Health Sciences will use a precision medicine approach to increase the effectiveness of sleep apnea treatment in people with Down syndrome. The study aims to evaluate the combination of two medications, atomoxetine and oxybutynin, for OSA in individuals with Down syndrome.
A new research paper introduces DoliClock, a biological aging clock based on lipid profiles in the human brain, showing accelerated brain aging in individuals with autism, schizophrenia, and Down syndrome. The study found that dolichol levels serve as reliable biomarkers of aging.
Researchers have identified a previously unknown organelle called the hemifusome that plays a crucial role in cellular sorting and recycling. This discovery could lead to targeted treatments for complex genetic disorders like Hermansky-Pudlak syndrome, which affects multiple systems in the body.
A USC study found that high levels of iron in the brain contribute to cell damage and oxidative stress, accelerating Alzheimer’s symptoms in individuals with Down syndrome. This connection could lead to targeted treatments and improved outcomes for those at risk.
A novel study analyzing the cost-effectiveness of different Down syndrome screening strategies confirms that non-invasive prenatal testing (NIPT) significantly outperforms second-trimester serum screening (STSS). NIPT identifies twice as many DS cases as STSS, offering a more reliable option with lower incremental costs.
A study published in the Journal of Internal Medicine found that individuals with Down syndrome have a higher risk of age-related cardiovascular diseases, particularly ischemic stroke and hemorrhagic stroke. The researchers also noted an increased risk of heart attack in young people with Down syndrome.
Research finds that 40Hz sensory stimulation promotes broad-based restorative neurological health response in mice with Down syndrome. The study shows improved cognition, increased neural activity, and enhanced neurogenesis, suggesting potential therapeutic benefits.
Researchers have initiated a clinical trial using an investigational medicine to lower amyloid precursor protein, targeting Alzheimer's disease in adults with Down syndrome. The study aims to prevent the development of Alzheimer's disease by addressing its underlying genetic cause.
Researchers have identified signs of neuroinflammation and blood-brain barrier dysfunction in patients with Down syndrome Regression Disorder (DSRD). The study, published in Annals of Clinical and Translational Neurology, reveals a potential immune-related cause for DSRD.
A unique case study reveals an unexpected discrepancy between Alzheimer's pathology and cognitive function in a woman with Down syndrome. The study highlights the need to expand inclusion criteria for therapeutic drug trials and uncover genetic or lifestyle factors that contribute to cognitive preservation.
Researchers use CRISPR-Cas9 to remove duplicate chromosomes in trisomy 21 cells, restoring gene expression and cellular phenotypes. The technique shows promise as a potential medical intervention for people with Down syndrome.
The project's recordings help improve voice recognition tools by providing diverse speech patterns to train artificial intelligence models. Microsoft has seen significant improvements in recognizing non-standard English speech, with accuracy gains ranging from 18% to 60%, depending on the speaker's disability.
Researchers have identified the gene DYRK1A as a key driver of 'glue ear' in people with Down syndrome, a middle ear condition commonly known as otitis media with effusion. The discovery paves the way for future targeted therapies to address hearing loss in patients.
A new study by Bar-Ilan University researchers reveals encouraging findings about cognitive growth and development in adults with Down syndrome, challenging previous assumptions. Adults with DS demonstrated higher fluid intelligence, while those with NSID showed more fragmented cognitive connections.
A phase 1/2 clinical trial has demonstrated the safety and effectiveness of the AEF0217 molecule in improving cognitive function in people with Down syndrome. Measured outcomes showed significant improvements in behavioral skills, social interactions, and cognitive flexibility.
The $2.7 million grant will support a network of research sites across the US and Latin America, investigating clinical characteristics and potential differences in care for Latinos with Down syndrome. The study aims to identify risk and resiliency factors that could change the presentation of Down syndrome in diverse cultural contexts.
The Speech Accessibility Project is working with two new partners, The Matthew Foundation and the Massachusetts Down Syndrome Congress, to recruit adults with Down syndrome and other conditions. The project aims to provide voice command devices to improve inclusion and employment opportunities for individuals with disabilities.
A study found that children with Down's syndrome have an elevated number of red blood cells, which increases their risk of developing leukemia. The extra chromosome 21 alters DNA packing and gene regulation, contributing to the development of leukemia.
A four-year grant will help researchers find new clues to the interplay between Down syndrome and myeloid leukemia, focusing on enhancing antileukemic activity of chemotherapy drug cytarabine. The goal is to identify a novel treatment strategy to improve patient outcomes and prevent relapses in ML-DS patients.
Researchers at RIKEN Center for Biosystems Dynamics found multiple specialized types of DNA replication in early-stage embryos, including a period of instability prone to chromosomal copying errors. This discovery could lead to improved methods of in vitro fertilization (IVF) and better strategies for minimizing chromosomal abnormalities.
Researchers tested lecanemab, an anti-amyloid drug, on brain tissue samples from individuals with Down syndrome, finding it effectively targeted amyloid plaques but also bound to blood vessels. The study highlights the need for careful consideration of safety and potential hemorrhagic complications in people with Down syndrome.
Researchers from the Linda Crnic Institute for Down Syndrome identified lower oxygen availability and dysregulated red blood cell function in individuals with Down syndrome. The study highlights potential targets for effective medical interventions to improve oxygen physiology in this population.
A clinical trial shows that JAK inhibitors improve autoimmune conditions such as alopecia areata, atopic dermatitis, and psoriasis in people with Down syndrome. The study also observed improvements in arthritis and decreased biomarkers of autoimmune thyroid disease.
Researchers have identified distinct molecular and immune subtypes across individuals with Down syndrome, providing new insights for personalized medicine approaches. The study's findings could lead to tailored diagnostics and therapeutic approaches, addressing the unique manifestations of co-occurring conditions.
Researchers found increased liver oxidative stress and impaired antioxidant defenses in a DS murine model. The study suggests potential therapeutic strategies targeting oxidative stress and lipid metabolism to prevent or mitigate liver-related complications.
A new study published in Science Advances documents the first case of Down syndrome in Neandertals, named 'Tina', and reveals that they provided extensive care for a young child with severe hearing loss. The discovery sheds light on the existence of true altruism among Neandertals.
A new study found that physical activity and cognitive training can improve life satisfaction and mood for adults with Down’s syndrome. The Mindsets study involved 83 participants who were assigned to one of four groups for an eight-week period, including a control group, light physical exercise, or BrainHQ activities.
A new study reveals that people with Down syndrome are more prone to developing Alzheimer's disease due to the presence of an extra chromosome 21, which leads to increased amyloid deposits. As a result, cognitive decline occurs in their 50s, whereas autosomal dominant Alzheimer's typically starts later in life.
A new case study suggests that hypoglossal nerve stimulation can improve sleep quality and cognitive development in children with Down syndrome. The procedure has shown promising results in reducing obstructive apnea-hypopnea index and improving neurocognition, offering a potential treatment option for young patients.
A new study found similarities in protein structures of Aβ and tau filaments between individuals with Alzheimer's disease and those with both conditions. This knowledge is crucial for understanding Alzheimer's disease in people with Down syndrome and assessing clinical trial inclusion.
Researchers found that lower activity of the Snhg11 gene in brains with Down syndrome contributes to memory deficits. The study suggests a key role for non-coding RNAs in regulating gene activity and influencing complex traits.
Researchers identified six cases of Down syndrome and one case of Edwards syndrome in ancient human remains from Spain, Bulgaria, Finland, and Greece dating back to 4,500 years ago. The individuals were buried with care and special grave goods, indicating they were appreciated by their societies.
Researchers identified six ancient individuals with an extra copy of Chromosome 21 and another with three copies of Chromosome 18, indicating care and appreciation from their communities. These findings suggest that children with Down Syndrome and Edwards Syndrome were not stigmatized but rather recognized as part of their societies.
Researchers at the Francis Crick Institute and UCL have identified a gene that causes heart defects in Down syndrome, a condition resulting from an extra copy of chromosome 21. Reducing the overactivity of this gene partially reversed these defects in mice, setting the scene for potential future therapies.
A study by the University of Gothenburg found that children born with Down syndrome and congenital heart defects have better survival rates since 1990. However, their mortality rate is still 85% higher than others with a congenital heart defect but without Down syndrome.
The study identifies FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A, regulating its activity and cellular location. This finding may provide potential clinical insights into treating Down syndrome and related diseases.
Researchers at Texas A&M University have been awarded a grant to study bone regeneration throughout the lifespan to benefit individuals with Down syndrome. They hope to understand whether bone regeneration can help people with Down syndrome recover from fractures, and also develop new treatments for limb loss.
A breakthrough study found that light exercise can improve cognitive health in adults with Down syndrome, leading to improved information processing and attention. After just eight weeks of walking, participants showed significant increases in physical fitness and reductions in errors during cognitive assessments.
A team of researchers aims to develop drug therapies by targeting genes that affect metabolism in people with Down syndrome, potentially improving their quality of life. The project will focus on the protein SIM2, which has been linked to breast cancer and metabolic changes in individuals with the condition.
A new study by Boston University School of Public Health finds that adults with Down syndrome are more consistently enrolled in Medicaid and utilize more healthcare services than people without developmental disabilities. However, racial disparities exist, with White individuals having greater access to care.
Researchers found dementia prevalence among people with ID to be 6.44%, with modifiable risk factors identified as hypertension, depression, stroke, age, severity of ID, duration of education, and traumatic brain injury. These findings can inform better screening and support for individuals with intellectual disabilities.
Researchers have discovered two major mechanisms that contribute to the high risk of complications from lung infections in individuals with Down syndrome: poor ciliary function, which impairs the respiratory tract's ability to clear mucus and viral particles, and immune hyper-reactivity, which leads to an overactive immune response. Th...
A global study analyzed data from over 6,600 families with a child with a neurodevelopmental condition to understand how the COVID-19 pandemic impacted their anxiety levels. The results show that anxiety increased for parents and children at the beginning of the pandemic, but decreased for children as they returned to pre-pandemic levels.
A cross-sectional study found that caregivers of Brazilian girls with Down syndrome commonly expressed concerns about menstrual bleeding and sexual development, with most permitting their child to engage in romantic relationships. The study highlights the need for guidance on addressing difficulties related to menstruation, contracepti...
Research reveals chronic immune dysregulation in Down syndrome, with high interferon activity linked to autoinflammation and metabolic changes. Repurposing JAK inhibitors shows therapeutic benefits in reducing inflammation without suppressing the immune system.
A mobile app is being tested to help students with disabilities such as autism, down syndrome, and learning disorders. The app, I-Connect, will enable select students to set goals, track progress, and receive prompts to improve their behavior and engagement in class.
Professor Coppedè's appointment aims to enhance the journal's focus on cutting-edge genomics research, covering topics like genome sequencing and functional genomics. He will lead Current Genomics to greater success by staying at the forefront of genomics discoveries and advancements.
A study found improved adherence to AAP guidelines for children with Down syndrome after implementing electronic health record integrations, coinciding with the COVID-19 pandemic reopening. The intervention resulted in higher follow-up visit adherence (69%) and improvements in audiology and sleep study components.
Researchers at the University of Colorado Anschutz Medical Campus have discovered a molecular mechanism contributing to congenital heart defects in infants with Down syndrome. The study found that an abnormal interferon response inhibits key molecular events required for heart development, leading to impaired cardiogenesis.