Articles tagged with Down Syndrome
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.
A study published in Development found that mice with a third copy of the Dyrk1a gene exhibit shortened skull length and widened head diameter, similar to humans with Down Syndrome. The researchers identified three other genes also contributing to craniofacial dysmorphology, providing insights into the genetics of Down Syndrome.
Researchers found that an extra copy of a gene controlling synapse formation causes excessive inhibitory signaling in the brain of mice with Down syndrome. This may contribute to conditions such as autism, epilepsy, and bipolar disorder.
A study of 31 million births in US states with and without 20-week abortion bans found a significant increase in Down syndrome diagnoses in the former. The study suggests that these bans may have influenced women's reproductive choices, leading to higher diagnosis rates.
Researchers created a new mouse model of Down syndrome with milder cognitive traits, showing promise for developing precise treatments. The study's findings may help address the limitations of previous models and improve cognitive function in individuals with Down syndrome.
Children with Down syndrome are highly vulnerable to developing aggressive leukaemia due to a defect in the RUNX1 gene, which regulates blood cell formation. Researchers have identified a specific variant of the gene that promotes leukaemia development and discovered potential therapeutic approaches to correct this malfunction.
Scientists have identified key players in the adaptive immune response as culprits for most autoimmunity in people with Down syndrome. The researchers found that many individuals with Down syndrome are in a perpetual state of inflammation comparable to those without the disorder who are in intensive care.
A study found that unintentional weight loss in people with Down syndrome coincides with brain changes associated with Alzheimer's disease, indicating it could be an early predictor. The researchers suggest that weight loss may be a useful tool for making an earlier diagnosis.
A study funded by NIH found that people with Down syndrome have a similar level of amyloid plaques in their brains as those with hereditary, early-onset Alzheimer's. This suggests that individuals with both conditions may benefit from participating in studies on Alzheimer's therapies aimed at slowing amyloid plaque formation.
Researchers found that the NIH Toolbox Cognition Battery is a promising option for measuring cognitive change in people with intellectual disability. The study shows that the test is sensitive to developmental changes in children, teens, and young adults, which can help guide effective interventions.
Researchers propose a new approach to understanding Down syndrome by examining global DNA effects rather than individual genes. They found decreased cellular replication and survival capabilities across all cells with trisomy, regardless of which chromosome is duplicated.
A recent study reveals that Down syndrome brains develop the same amyloid beta and tau prions as Alzheimer's disease, causing neurological dysfunction. With over 50% of people with Down syndrome developing Alzheimer's by age 40, this discovery offers new insights into the common underlying causes of these two diseases.
Individuals with Down syndrome experience less frequent but more severe viral infections, attributed to increased type I interferon expression. This leads to hyperactive immune responses initially, followed by overcorrection, resulting in increased vulnerability late in the viral attack.
Researchers developed a therapy using GnRH pulsatile injection to restore cognitive and olfactory functions in trisomic mice. In a pilot clinical trial, the treatment improved cognitive performance in 6 out of 7 patients with Down syndrome, including better reasoning, attention, and episodic memory.
Researchers identified a molecule produced by astrocytes that interferes with normal neuron development in Rett, fragile X and Down syndromes. Blocking this molecule reduces disease signs in mice brains, suggesting potential therapeutics to treat these disorders.
Children with Down syndrome have a unique preference for food textures, preferring crispy and oily foods over brittle or gooey ones. Researchers found that adding nutritional value to these preferred foods could help improve the children's eating habits and reduce choking incidents.
A RCSI study has found that babies born with Down Syndrome experience impaired changes in heart function and blood pressure in their lungs over the first two years of age. The research suggests that all babies with Down Syndrome should have their heart function monitored during childhood due to these common issues.
A Texas A&M study sheds light on a major health concern for people with Down syndrome, who may not heal from bone fractures. The researchers found that the glue-like cartilage that helps bones heal doesn't form properly in individuals with DS, leading to devastating health impacts.
Researchers developed a convolutional neural network to identify fetuses with Down Syndrome from ultrasound images. The model achieved high accuracy, improving detection by over 15% compared to existing methods. Non-invasive screening could become a convenient and inexpensive tool for early pregnancy diagnosis.
Researchers found that lamivudine improved cognition in a mouse model of Down syndrome, which could lead to new pharmacological treatments for cognitive impairment. The study highlights the potential of targeting retrotransposons, segments of DNA that contribute to neurodegenerative diseases.
The INCLUDE Data Hub provides centralized access to large-scale research resources, including biospecimen libraries and clinical datasets, for the study of Down syndrome. With over 8,000 study participants and 30,000 biospecimens, researchers can accelerate discoveries that benefit people with Down syndrome.
A surgically implanted device has been found to safely and effectively reduce sleep apnea in adolescents with Down syndrome, with significant improvements in daily functioning, behavior, and language. The device, called a hypoglossal nerve stimulator, was tested in a phase I clinical trial and showed promising results.
A new study shows that a potential treatment for Alzheimer's disease, sargramostim, improves cognitive function in people with Down syndrome and normal aging mice. The drug reverses learning and memory deficits, nerve cell loss, and brain abnormalities in mouse models of Down syndrome and aging.
Researchers at Lewis Katz School of Medicine identify reduced efficiency of protein transport system as key factor in Alzheimer-like changes. The study suggests that targeting the retromer complex could lead to new treatments for Down syndrome-related dementia.
Researchers have genetically engineered a rat model of Down syndrome to test new therapies and explore the condition's unique genetics. The rats exhibit cognitive impairments, anxiety, and hyperactivity similar to humans with Down syndrome, providing a valuable tool for medical research.
Researchers discovered that genome-wide disruptions in Down syndrome cells share similarities with cellular aging or senescence. Anti-senolytic drugs were found to correct these disruptions, improving gene accessibility and cell function in cell cultures.
A study published by Sanford Burnham Prebys found unappreciated changes in brain cell types involving hundreds of thousands of never-before-seen RNAs in individuals with Down syndrome. This breakthrough provides new avenues for understanding both Down syndrome and Alzheimer's disease.
A new smartphone-based app, iBehavior, will be tested to improve the accuracy of data in clinical trials involving individuals with intellectual disability. The app uses ecological momentary assessment to track symptoms related to executive function, often associated with ADHD.
A new study published in the Lancet Haematology found that children with Down syndrome are more likely to develop aggressive forms of leukemia and have a poorer prognosis. The research also identified potential differences in treatment outcomes between children with and without Down syndrome.
A new study showcases the COVIDome Explorer, a public online portal for real-time COVID-19 data analysis, visualization and sharing. The platform enables rapid hypotheses testing, hypothesis generation and discoveries by experts and non-experts.
Princess Margaret Scientists reveal a new target that suggests it can potentially prevent leukemia in children with Down syndrome. The study mapped out where and how leukemia begins and develops in infants with Down syndrome, paving the way for future prevention strategies.
Optical Genome Mapping (OGM) detects abnormalities in chromosomes extremely quickly and accurately, potentially replacing traditional techniques. This new technology has been proven effective in detecting hereditary disorders and could significantly improve patient care.
A study of nearly 550 adults with IDD found that age, larger residential settings, Down syndrome, and chronic kidney disease were the most common risk factors for COVID-19 diagnosis. Heart disease was most associated with COVID-19 deaths. The study highlights the need for increased funding for IDD services to ensure better health outco...
A study published in Nature Communications has identified a single biomarker, neurofilament light chain (NfL), that can accurately reveal underlying neurodegeneration in people with cognitive issues. NfL levels in blood were found to be higher across all neurodegenerative disorders compared to those with no cognitive problems.
Researchers used ultra-high field MRI to map the brains of people with Down syndrome, detecting subtle differences in hippocampal structure and function. The study provides insight into how subregions of the hippocampus are connected to other brain areas.
A new test, expressive language sampling (ELS), has been validated as a reliable tool to measure communication development in youth with Down syndrome. The study found that ELS measures were generally valid and reliable across ages and IQ levels, demonstrating strong validity for vocabulary, syntax, and speech intelligibility variables.
A new test has been developed to evaluate expressive language skills in individuals with Down syndrome, offering a more effective approach than current methods. The test was found to be reliable and consistent across different versions, making it suitable for most individuals between the ages of 6 and 23.
A new study confirms that children with Down syndrome have a substantially increased risk of developing acute myeloid leukemia (AML) before age 5. The research found that 2.8% of children with Down syndrome were diagnosed with leukemia, compared to 0.05% of other children.
A new study by the Linda Crnic Institute for Down Syndrome identifies a higher-than-expected rate of clonal hematopoiesis in individuals with Down syndrome between the age of one to 20 years old. This precocious clonal hematopoiesis is linked to an increased risk of leukemia, with oncogenic mutations dominating the TET2 gene.
Keratoconus Dystrophy affects 30% of people with Down syndrome, causing vision problems and potentially requiring corneal transplants. The research aims to identify individuals at risk and explore prevention options through the use of biospecimens from the DSA Biobank.
Research found that green tea supplements can reduce facial dysmorphology in children with Down syndrome, especially when administered during the first three years of life. The study also suggests that high doses may disrupt facial and bone development, highlighting the need for further research and caution.
A new study found adults with Down syndrome are roughly three times more likely to die from COVID-19 than the general population. The study's results have implications for preventive and clinical management of COVID-19 patients with Down syndrome, highlighting the need to prioritize individuals with this genetic condition for vaccination.
Researchers found higher expression of genes critical for SARS-CoV-2 entry and immune response, increasing risk of severe illness and late-onset complications. People with Down syndrome may benefit from early vaccination to mitigate these risks.
A new study published in the European Journal of Human Genetics found that prenatal testing has halved the number of babies born with Down syndrome in Europe. The growth of noninvasive prenatal screening has led to a significant reduction in DS births, with some countries experiencing reductions of up to 71%.
A new study by UC Davis MIND Institute finds a connection between gestational age and attention deficit/hyperactivity disorder (ADHD) symptoms in children with Down syndrome. Earlier gestational age was linked to increased ADHD symptoms later in childhood.
Scientists have discovered a breakthrough in understanding the enzyme responsible for producing fish odour syndrome. By stabilizing and inhibiting the CntA protein, researchers hope to develop new drugs that can target and reduce TMA formation in the gut microbiome.
Researchers found tau accumulation years before dementia symptoms appear in people with Down's syndrome, suggesting an early change. The study suggests potential for early prophylactic measures against tau accumulation to prevent Alzheimer pathology in childhood.
A study found that DSCR-1 suppresses oxidized LDL cholesterol production and angiogenic signaling, protecting against corneal opacity. High DSCR-1 expression also reduced vascular diseases such as atherosclerosis and hypertension.
Researchers found that apigenin improved cognitive and memory deficits in mice with Down syndrome-like characteristics, reducing inflammation and increasing brain growth. This study raises the possibility of a prenatal treatment to lessen cognitive deficits in fetuses diagnosed with Down syndrome through prenatal testing.
A multi-institutional team led by UCI researchers will expand research on biomarkers of Alzheimer's disease in adults with Down syndrome. The five-year, $109M grant aims to improve the quality of life of aging individuals with Down syndrome through advancing prevention and treatment strategies.
Researchers found a 10-fold increased risk of COVID-19-related death in individuals with Down syndrome. Meanwhile, the FDA is reevaluating its REMS program for mifepristone to improve women's health access during the pandemic and post-pandemic
The UC Davis SEED Scholar program will provide a four-year, fully integrated college experience for students with intellectual disabilities. The program aims to create a model for inclusive education and offers a range of academic, social, and internship opportunities.
Scientists have identified new genes that are overexpressed in endothelial cells of people with Down syndrome, increasing their risk for leukemia. The study suggests these genes could be therapeutic targets for developing novel treatments and prevention strategies.
A new software program, Down Syndrome Clinic to You (DSC2U), has been shown to be effective in improving adherence to US national Down syndrome guidelines. DSC2U aggregates the clinical experience of specialists and connects patients' families with customized information to augment local care providers.
Scientists discovered genes with decreased expression in individuals with Down syndrome, which may also protect people from developing solid tumors. These findings could lead to the development of gene-targeted therapies for both people with Down syndrome and the general population.
A team of researchers has discovered that neural networks relevant to memory and learning are over-activated and connectivity is poor in mice with Down syndrome. Chronic treatment with epigallocatechin gallate improves memory deficits. The study identifies biomarkers in brain rhythms that can predict memory deficits.
A new UCI-led study suggests that metabolic alterations, rather than just amyloid accumulation, contribute to the development of Alzheimer's disease in people with Down Syndrome. The study found similar energy metabolism deficits in adults with Down Syndrome and Alzheimer's disease, opening up new avenues for prevention.
Researchers discovered that resolvins, specialized lipids, can reduce inflammation and prevent memory loss in a preclinical model of Down syndrome. This finding has the potential to lead to new therapies for Alzheimer's disease, targeting inflammation as a key mechanism in healthy aging.