Articles tagged with Down Syndrome
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A novel assay analyzes fetal cell-free DNA in maternal blood to screen for trisomy 21 and 18. The test is nearly 100% accurate, with a low false positive rate of 0.03%. It has the potential to replace current aneuploidy screening methods.
Research published in PLoS ONE reveals that photographs of children with Down syndrome elicit less positive attitudes than those of typically developing children. The study found a strong negative bias among caregivers working with intellectually disabled persons.
Researchers at Stanford University highlight potential treatments for cognitive dysfunction in Down syndrome, which shares similarities with Alzheimer's disease. The review focuses on insights from animal models and structural abnormalities in the DS brain.
A study in a mouse model of Down syndrome identifies increased expression of protein Dyrk1a as a promoter of acute megakaryoblastic leukemia, offering a candidate therapeutic target for treatment.
Scientists developed a novel biochemical assay and algorithm to detect fetal chromosomal abnormalities in maternal blood, achieving high accuracy and efficiency compared to existing methods. The new approach has the potential to reduce unnecessary invasive testing and improve screening for Down syndrome and Edwards syndrome.
A study presented at the Society for Maternal-Fetal Medicine's annual meeting demonstrated that massively parallel sequencing of maternal plasma DNA can detect all three most prevalent fetal aneuploidies. The test showed 100% sensitivity and specificity for trisomy 21 (Down syndrome) and high accuracy for other autosomal aneuploidies.
A new study published in The Lancet shows that memantine is ineffective for patients with Alzheimer's disease and Down syndrome aged 40 years and older. The drug was tested on 88 patients with or without dementia, but showed no significant improvement in cognition and function compared to a placebo group.
Aria Diagnostics published peer-reviewed data for a new noninvasive prenatal test that accurately detects Trisomy 21 and Trisomy 18 with improved efficiency. The technology offers significant improvement over existing approaches, enabling cost-effective and scalable analysis of cell-free DNA in maternal blood.
William C. Mobley, chair of UC San Diego's Department of Neurosciences, received the International Sisley-Jérôme Lejeune Prize for his innovative research on treatments for neurological disabilities, including Down syndrome. The prize acknowledges his contributions to advancing care and management of intellectual disabilities.
Biologists have identified two critical genes, DSCAM and COL6A2, responsible for congenital heart defects in individuals with Down syndrome. These genes disrupt cardiac development and function when produced at elevated levels. The study used a novel approach combining fruit flies and mice to untangle the problem.
A new DNA-based prenatal blood test can significantly reduce the number of risky diagnostic procedures needed to identify pregnancies with Down syndrome. The test identified 98.6% of affected pregnancies while only 0.2% of normal pregnancies were misidentified as positive.
A 16-year study confirms the accuracy of autism diagnosis in children with Down syndrome using the Diagnostic and Statistical Manual of Mental Disorders (DSM). The research found that clinicians can use the DSM to identify autism spectrum disorders in these individuals, providing them with targeted educational and intervention services.
A researcher has found that individuals with Down syndrome have substantially altered key eye reflexes, leading to poor balance and motor coordination. The study's findings could lead to new tools for assessing the effectiveness of treatments aimed at improving quality of life.
A clinical trial is underway at the University of Colorado to test a drug that could improve memory and learning in those with Down syndrome. The study, led by Dr. Alberto Costa, aims to enhance brain function and potentially increase hope for those affected.
Researchers used a brain scan to assess amyloid plaques and neurofibrillary tangles in adults with Down syndrome, revealing higher levels in all brain regions compared to healthy controls. The study found significant associations between increased age and higher binding values in specific brain areas.
Scientists developed a new method, GROMIT, to study gene regulation by employing a jumping gene as an informant. The technique revealed that each regulatory element can control a broader range of genes than previously thought, and expression levels are fine-tuned at the tissue level.
A new noninvasive test for trisomy 21 has been developed using DNA sequencing of maternal blood plasma, accurately detecting the extra chromosome in 100% sensitivity and 99.7% specificity. The test shows promise as a potential alternative to invasive prenatal testing.
Researchers at UBC-VCH have discovered that excess production of RCAN1 protein sets off a chain reaction killing brain cells in people with Down Syndrome and Alzheimer's Disease. This finding provides a potential new target for drugs to prevent dementia in both populations.
The Kennedy Krieger Institute will conduct research on the onset and progression of Alzheimer's disease in adults with Down syndrome. The studies aim to establish criteria for early diagnosis and develop methods to identify mild cognitive impairment.
Researchers at the University of Arizona have developed a battery of computer-based tests that can quickly assess cognitive abilities in individuals with Down syndrome. The tests, which take about two hours to administer, offer a new tool for clinicians and researchers to determine developmental trajectory and devise drug and behaviora...
A new study found that choline supplementation during pregnancy and nursing may improve cognitive and emotional abilities in people with Down syndrome. The research also suggests potential protection against neurodegenerative conditions such as Alzheimer's disease.
Researchers found that reducing beta-amyloid levels in young mice with a Down syndrome-like genetic anomaly significantly improved their ability to learn. The study suggests that drugs targeting gamma-secretase may offer therapeutic benefits for children with Down syndrome, who develop cognitive decline and dementia in adulthood.
A team of researchers has discovered that amyloid-β protein accumulates in the eyes of people with Down syndrome, leading to distinctive cataracts. The findings may lead to an innovative eye test for early detection of Alzheimer's pathology in both disorders.
A four-year grant supports the development of updated growth charts based on data from 600 children with Down syndrome. The charts will better represent growth patterns and body mass index changes, enabling healthcare professionals to plan treatment and design preventive health programs.
A recent study suggests that a deficiency of protein in the brain may contribute to cognitive impairment and congenital heart defects in Down syndrome patients. Researchers found lower levels of the protein in brains with Down syndrome compared to healthy controls, and an experimental drug increased its production.
Studies implicate beta amyloid protein in shared disease mechanisms with Alzheimer's, Down syndrome, and atherosclerosis. Damage to microtubule network disrupts cholesterol metabolism and insulin signaling.
Researchers found that adding a genetic sonogram to non-invasive prenatal screening increases the detection rate of Down syndrome by up to 98%, while decreasing false positive rates. This maximizes the capacity for noninvasive detection with currently available technology.
A study by neuroscientist William C. Mobley demonstrated a possible new approach to slowing cognitive decline in Down's syndrome using a pro-drug for norepinephrine, rescuing cognition in mice.
A Stanford University School of Medicine study found that boosting norepinephrine signaling in mice with Down syndrome-like conditions improves cognition. The researchers suggest using existing medications targeting depression and ADHD to treat the condition.
A new study reveals a 71% increase in Down syndrome pregnancies and births over 20 years, largely due to women delaying childbearing. Despite this rise, improvements in prenatal screening have maintained the number of babies born with the condition at around 750 per year.
Researchers have discovered a new chromosomal abnormality in acute lymphoblastic leukemia (ALL) that is particularly common in children with Down syndrome. The finding has led to the development of new diagnostic tests and potential treatments, including an experimental medication targeting one of the altered genes.
Research offers recommendations for doctors diagnosing prenatal Down syndrome, including who should deliver the news and what information to provide. Mothers prefer receiving diagnosis from healthcare professionals with the most knowledge, and benefiting from up-to-date information about DS and personal stories of children with DS.
The introduction of new prenatal tests for Down syndrome has led to a steady decrease in births of babies with the condition since their introduction. Experts argue that existing tests may not be providing accurate information, leading to difficult conversations between physicians and expectant parents. To address this, researchers are...
A recent study published in the Journal of Clinical Sleep Medicine reveals that 94% of adults with Down syndrome have obstructive sleep apnea. The severity of OSA was found to be higher than expected, with most subjects having at least moderate to severe disease.
Researchers at Tel Aviv University have discovered a novel treatment for children with high-risk leukemia, leveraging a similar mutation linked to Down syndrome and polycythemia vera in adults. The JAK2 inhibitor offers promise as an alternative to chemotherapy, potentially reducing toxicity costs.
Researchers have found that a mutation in just one copy of the Bub1 gene can lead to aneuploidy in mice, increasing the risk of genetic disorders like Down syndrome and pregnancy loss. The study's findings suggest that age is also a contributing factor, with older female mice having fewer offspring.
Research in mice and human stem cells identified specific new therapeutic targets for treating cancer, including a gene called Dscr1 that suppresses angiogenesis and tumor growth. The study suggests that people with Down syndrome may benefit from an extra dose of one or more cancer-protective genes.
Researchers have found a connection between Sanfilippo syndrome and Alzheimer's disease, suggesting that new Alzheimer's drugs may provide therapy for the currently untreatable metabolic disorder. The study identified key proteins involved in the development of the disease, which could lead to effective treatment options.
Researchers have discovered protein aggregates in Sanfilippo syndrome type B that are similar to neurofibrillary tangles found in Alzheimer's disease. This finding suggests that new dementia treatments may also benefit patients with this rare genetic disorder, offering hope for improved treatment options.
A newly identified molecular pathway directed stem cells to produce glial cells, providing insights into the neurobiology of Down's syndrome and central nervous system disorders. The study found that synaptojanin-1 is essential for glia production, which may lead to the development of drugs that inhibit glial proliferation.
Researchers at the University of Denver are conducting a groundbreaking study to improve teaching methods for young children with Down syndrome. The study aims to compare two early literacy intervention approaches and will involve parents implementing an at-home program for approximately 10 months.
Researchers discovered specific mutations in the JAK2 gene associated with Down's syndrome-associated acute lymphoblastic leukemia, which could lead to new treatment options. Children with this type of leukemia are younger at diagnosis and have a better prognosis when treated with JAK2 inhibitors.
Breakthroughs in cytogenetic technologies have enabled a new level of detail and accuracy in diagnosing complex developmental problems in children. Researchers are now using these tests to identify microdeletions and microduplications, leading to more accurate diagnoses and effective treatments.
A 70-year-old man with Down syndrome has aged successfully despite having the condition, challenging previous assumptions about Alzheimer's disease and increasing hopes for longer, healthier lives. Comprehensive analyses reveal potential explanations for 'Mr. C''s' remarkable case, including gene expression and an atypical genotype.
Researchers discovered that extra chromosome 21 in embryonic stem cells disrupts a key regulating gene called NRSF or REST, leading to developmental changes. The study identifies a specific gene, DYRK1A, on human chromosome 21 responsible for the observed effects.
A study published by the American Academy of Sleep Medicine found that children with Down Syndrome have more fragmented sleep and frequent awakenings compared to typically developing children. The study suggests that this may be an independent issue and may impact cognitive, behavioral, and physical growth.
Current prenatal biochemical screening tests only detect half of chromosomal abnormalities, including trisomies and deletions. This limitation emphasizes the importance of counseling patients on the limitations of these tests to make informed decisions about invasive diagnostic testing.
Researchers found that extra copies of a particular gene can repress tumor growth, while missing a copy enhances tumor growth. Mice with three copies of the gene had fewer tumors than those with two copies, while mice with one copy developed more tumors.
A study found that children with Down syndrome have significantly higher body mass index and percentage of body fat compared to their siblings. Leptin levels also correlate with these differences, suggesting a genetic predisposition to leptin resistance in individuals with Down syndrome.
Scientists have developed a rapid prenatal test for Down syndrome that produces accurate results within two hours. The new method uses digital polymerase chain reaction and is potentially cheaper and simpler than existing tests, reducing the workload of lab personnel.
The article challenges the routine use of ultrasound as a screening procedure for chromosome abnormalities, suggesting that foetal 'nuchal thickness' measurements are not supported by scientific data. This could lead to the 'loss' of normal babies in attempts to prevent Down's syndrome and trisomy 18.
In Denmark, non-invasive screening of pregnant women using ultrasound and blood analysis has reduced the number of children born with Down Syndrome by 50%. The new guidelines have also led to a significant decrease in invasive pre-natal diagnostic procedures, from 11% to around 6% of pregnancies.
Researchers at Stanford University School of Medicine and Lucile Packard Children’s Hospital found a once-a-day treatment with PTZ improved learning and memory in mice with Down syndrome symptoms. The gains lasted for months after the treatment was discontinued.
A new non-invasive prenatal testing method has been developed and tested on 60 pregnant women, identifying chromosomal abnormalities in 58 cases, including two trisomy 21 instances. While preliminary, the technique holds potential as a complement to existing prenatal tests with further refinement.
Research by Markus Neuhäuser and Sven Krackow found that the number and age of existing siblings significantly influence Down Syndrome risk. The study suggests that older mothers with a larger gap between pregnancies are more likely to have children with developmental defects.
A large follow-up study of over 50 families has identified more genetic perturbations in Loeys-Dietz Syndrome, providing clearer picture for diagnosis. The study emphasizes the importance of comprehensive clinical evaluations when diagnosing the disease.
Researchers at Indiana University School of Medicine found that routine screening for celiac disease in asymptomatic children with Down syndrome can have negative consequences on their quality of life. The study suggests that the cost of screening and treatment may outweigh the potential benefits, making it a less beneficial practice.
Studies in mice genetically engineered to mimic Down's syndrome found that increased expression of one gene, amyloid precursor protein (APP), disrupts transport of nerve growth factor (NGF) and leads to neuronal death. Restoring normal cellular levels of a Trk receptor for BDNF rescues neuronal death.
Researchers at Stanford University School of Medicine and Lucile Packard Children's Hospital have identified a gene that overexpressed causes neurons responsible for attention and memory to shrivel in people with Down syndrome. Deleting or reducing the expression of this gene may provide therapeutic options for cognitive decline.
A study led by Lawrence Livermore National Laboratory found a steady increase in sperm DNA fragmentation with increasing age of participants. Sperm motility showed a high correlation with DNA fragmentation, associated with increased risk of infertility.