Articles tagged with Down Syndrome
A new assessment tool combines parental questionnaires and inexpensive diagnostic procedures to rule out obstructive sleep apnea in children with Down syndrome. The tool showed high accuracy in identifying participants without moderate to severe OSA, potentially reducing the need for sleep studies.
Researchers at St. Jude Children's Research Hospital have developed new diagnostic screening and treatment recommendations for high-risk pediatric patients with acute megakaryoblastic leukemia (AMKL). The study identified three genetic alterations that can predict treatment success, enabling personalized medicine approaches.
A study published in the American Journal of Medical Genetics found that medical care costs for children with Down syndrome are less than $100 a month higher than those for typically developing children. The average monthly cost difference is lower when the child is older, ranging from $537 a year for children aged 13-18.
Scientists at Sanford Burnham Prebys Medical Discovery Institute have discovered that sorting nexin 27 (SNX27) is required for the formation of cells that maintain normal flow of fluid out of the brain. The study found that deleting SNX27 causes hydrocephalus, and gave hope for potential non-surgical treatments.
Researchers found that children with Down syndrome did not experience higher rates of relapse or treatment-related mortality compared to other children treated on the same protocols. However, they suffered more treatment-related mucositis and infections. The study suggests that supportive care can help mitigate these complications.
A new study estimated the number of people with Down syndrome in the US from 1950 to 2010, revealing a significant underestimation. The study found that the total number of individuals with Down syndrome was approximately 206,366 in 2010, with significant differences among ethnic and racial groups.
A landmark study published in eLife reveals that trisomy 21 consistently activates the interferon response, leading to increased interferon-stimulated genes and lower protein synthesis. This discovery has significant implications for understanding Down syndrome and its characteristic features.
A new study confirms Homo floresiensis as a distinct species, contradicting earlier claims of Down syndrome in the 'Hobbit' skeleton LB1. The research analyzed features across the skeleton and found that LB1's brain was smaller than those with Down syndrome, and its skull shape and limb proportions were more archaic.
A phase 2 study shows that epigallocatechin gallate and a cognitive stimulation protocol improve visual memory recognition, inhibitory control, and adaptive behavior in individuals with Down's syndrome. The treatment may be a promising approach to enhance quality of life for those affected.
A study by Michigan State University finds that adults with Williams syndrome are susceptible to online victimization due to their trusting nature and frequent use of social networking sites. Roughly a third of participants reported engaging in risky online behaviors without parental supervision.
A recent study published in PLOS Genetics has identified a single gene, RCAN1, that may contribute to insulin secretion problems in both conditions. Overexpression of this gene leads to mitochondrial dysfunction and reduced insulin production in beta cells.
The NIH has created an atlas of human malformation syndromes in diverse populations to help diagnose genomic diseases. The atlas features photos and descriptions of people with different inherited conditions, allowing healthcare providers to diagnose patients from non-European ancestry more accurately.
A study estimated the number of children born with Down syndrome each year in Massachusetts, along with pregnancies terminated due to prenatal diagnosis. The study found a higher incidence of termination in the Northeast and among Asians/Pacific Islanders.
Research reveals enlarged endosomes as early sign of neurodegeneration in Alzheimer's Disease and Down Syndrome. Abnormally active Rab5 protein disrupts axonal transport and neuronal function.
Researchers identified four genes XPO1, BCL11A, REL, and USP34 as responsible for a rare chromosomal deletion disorder. The study found that loss of these genes leads to intellectual disability, microcephaly, and other symptoms.
A recent study by MGHfC found that positive attitudes tend to dominate within modern-day families who have members with Down syndrome. In fact, 87% of families reported feeling love for their family member and being proud of them, despite some small minorities reporting negative attitudes.
Children with Down syndrome who exhibit symptoms of both childhood dysarthria and apraxia may be inadequately diagnosed, leading to ineffective treatment. A new study suggests that these children should be treated for all symptoms, regardless of diagnosis.
Researchers identified a set of proteins that play a key role in preventing errors during healthy cell formation. The study sheds light on mechanisms involved in egg cell formation and may aid understanding of infertility, stillbirths, and birth defects.
Biochemists at UTA are mapping sulfur-oxidizing enzyme catalytic processes to improve understanding of chemical imbalances in autism, Alzheimer's disease and Down syndrome. The team aims to develop effective therapies and drugs for these conditions.
Scientists at Johns Hopkins University have uncovered the molecular cause of peripheral nervous system dysfunction in Down syndrome. A gene called RCAN1 appears to be overactive, hindering nerve growth and development, which may contribute to heart disease, diabetes, and immune disorders associated with the condition.
Researchers at Baylor College of Medicine discovered a new potential treatment for MECP2 duplication syndrome by normalizing MeCP2 levels using antisense oligonucleotides. This approach largely reversed behavioral, molecular, and other deficits in mice, providing hope for human treatment.
Researchers are developing a simple, inexpensive blood test that can detect the risk of Alzheimer's disease in individuals with Down syndrome. The test aims to identify people who will develop the disease before cognitive symptoms appear.
A new study suggests using contingent screening could detect higher proportions of affected pregnancies, but parental choices limit its impact. Only 60% of women considered high-risk after standard first-trimester screening choose cfDNA testing, resulting in a limited effect on live births with trisomy 21.
Researchers at Temple University Health System have identified a regulatory enzyme defect in Down syndrome that also malfunctions in Alzheimer's disease, leading to the formation of toxic amyloid plaques in the brain. This discovery could lead to the development of a targeted therapy to mitigate dementia in Down syndrome.
Pediatric researchers have developed new growth charts for U.S. children with Down syndrome, providing a tool for pediatricians to evaluate growth patterns and nutritional status. The new charts show improvements in weight gain and height for children under age three, while also creating BMI charts to screen patients for excess body fat.
A recent study suggests that offering pregnant women a DNA test for Down's syndrome on the NHS could reduce the number of invasive tests and potentially save lives. The 'cell-free' DNA test has been found to be highly reliable and can be easily incorporated into routine clinical care within the NHS.
A study published in Frontiers in Behavioral Neuroscience has confirmed the pathogenic role of beta amyloid in dementia, both in Down syndrome and Alzheimer's disease. Researchers found that people with Down syndrome develop abnormal protein at twice the rate, providing insights into how Alzheimer's naturally progresses.
Research identifies a key trouble spot in the brain that contributes to intellectual disability in Down syndrome, shedding light on disrupted brain networks. The study suggests therapies targeting these networks may be beneficial for future treatments.
Researchers discovered differences in brain inflammation between people with Down syndrome and Alzheimer's disease alone. The study found higher levels of inflammatory markers M2b in Down syndrome-related Alzheimer's, highlighting the need for tailored treatments.
New brain-imaging research has found that the cortex is thicker on average in youth with Down Syndrome than in typically developing youth, despite lower overall cortical volume. This finding may provide new insights into early onset Alzheimer's disease susceptibility in individuals with Down Syndrome.
Children and teens with Down syndrome are at higher risk for behavioral medications, study finds. The odds of being on a stimulant increased with age, while antidepressant use rose with age, suggesting changing mental health needs over time.
Researchers from the UCL Institute of Child Health and Great Ormond Street Hospital found non-invasive prenatal testing to be highly effective and acceptable to parents. Over 2,500 women underwent NIPT for high and medium risk pregnancies with Down's syndrome, showing a sharp decrease in invasive tests and increased detection rates.
A new national study in the Netherlands reveals that non-invasive prenatal testing (NIPT) is accurate and preferred by pregnant women at high risk of having a baby with Down's syndrome. The TRIDENT study found 89 cases of trisomy 21, 11 of trisomy 18, and ten of trisomy 13, with only nine false positives.
Researchers found that FDA-approved cancer drugs nilotinib or bafetinib can prevent overgrowth of neuron endings associated with Down syndrome and Fragile X syndrome. The study used fruit fly models, showing the drugs did not harm healthy brain development.
A study published in Neuropsychiatric Disease and Treatment found that Catatonia is a treatable cause of regression in individuals with Down syndrome. Patients treated for Catatonia showed improvement, regaining baseline functioning.
Researchers at MIT and Case Western Reserve University will collaborate to advance understanding of Down syndrome, aiming to improve quality of life for those born with it. The collaboration will focus on developing personalized human stem cell models and testing potential therapeutic treatments.
The Alana Foundation has awarded $1.7 million to Case Western Reserve University and MIT to advance research on new chemical compounds for treating Down syndrome. The study will test the effects of these compounds on cells involved in cognitive function, aiming to improve cognitive abilities in individuals with the condition.
A blood test between 10-14 weeks of pregnancy accurately diagnosed all 38 fetuses with Down syndrome, surpassing standard non-invasive screening techniques. The cell-free DNA blood test correctly identified fetuses with two other less common chromosomal abnormalities.
The American Society of Human Genetics and the European Society of Human Genetics issued a joint position statement on non-invasive prenatal testing (NIPT), exploring its promise and drawbacks. NIPT has improved accuracy and safety in prenatal screening, but raises concerns about over-expansion and loss of ultrasound data.
A team of UH College of Optometry researchers aims to improve the vision of individuals with Down syndrome using computer-simulated prescribing strategies. The study, funded by the National Eye Institute, hopes to demonstrate improved visual acuity with new prescription methods that consider optical distortions in the eyes.
The non-invasive first trimester blood test reliably detects Down syndrome in over 99% of cases, making it superior to other testing methods.
A study of individuals with Down syndrome has identified large rare deletions involving cilia genes as common causes of congenital heart defects. The research also suggests that these genetic alterations may impact other organs beyond the heart, leading to personalized healthcare approaches for affected individuals.
Researchers found that reduced levels of SNX27 protein lead to increased beta-amyloid production and brain plaques, a hallmark of Alzheimer's disease. Adding new copies of the SNX27 gene can repair memory deficits in Down syndrome mice.
A UCSF study found that educating pregnant women about their choices on prenatal genetic testing leads to a decrease in the number of tests. Women who received clear information and unbiased guidance were less likely to undergo diagnostic testing, scoring higher in knowledge of genetic testing.
Researchers studied adults with Down syndrome to understand the role of amyloid-β protein in memory and cognitive function. Contrary to expectations, many individuals with elevated amyloid-β levels did not exhibit negative consequences, highlighting the complexity of Alzheimer's disease.
A Dartmouth study reveals a new protein linkage pathway that may help explain the molecular mechanisms behind birth defects in older women. The research shows that immature egg cells create replacement linkages after DNA replication, essential for maintaining meiotic cohesion over time.
Researchers at Nanyang Technological University have identified two genes, RAS and JAK, that are mutated in most cases of acute lymphoblastic leukaemia in children. This discovery may lead to more targeted treatment protocols with fewer side effects for these patients.
Research identifies RAS oncogene involvement in DS-ALL cases, highlighting genetic insights into leukemia risk in children with Down syndrome. Geneticists sequenced exomes of affected individuals, shedding light on disease characteristics.
Researchers reanalyze Flores bones, finding features indicative of Down syndrome, including cranial asymmetry and short thigh bones. The analysis challenges the original claim of a new 'hobbit' human species, instead suggesting a developmental disorder.
Scientists identify astroglial cells as crucial players in Down syndrome's abnormal neuron development and find that an inexpensive antibiotic can correct many abnormalities. They also show that minocycline, a commonly used tetracycline antibiotic, promotes healthy interactions between astroglia and neurons.
A team of Dana-Farber Cancer Institute investigators have uncovered a connection between Down syndrome and the development of acute lymphoblastic leukemia (ALL) during childhood. The study found that an extra copy of chromosome 21 leads to abnormal B cells that grow uncontrollably, increasing the risk of ALL.
Researchers studied identical twins with trisomy 21 to understand gene expression changes. The study found that extra chromosome 21 affects entire genome, leading to various pathologies and disrupting cellular function.
A study published in Neurobiology of Aging has found a connection between the integrity of white matter connections in the brain and cognitive health in adults with Down syndrome. The research team identified biomarkers connected to dementia, including Alzheimer's disease, which could potentially lead to earlier intervention and retard...
A new study published in the New England Journal of Medicine found that noninvasive prenatal testing using cell-free DNA significantly reduced false positive results and had higher predictive values for detecting fetal trisomies 21 and 18 compared to standard screening methods.
Researchers identified SNX27's precise role in the pathway leading to memory and learning impairment, particularly in Down's syndrome. The study could lead to strategies to improve memory and learning abilities in those with the condition.
A study found that non-invasive prenatal testing (NIPT) detected over 83% of chromosomal abnormalities, including trisomies 13, 18, and 21. The test was more accurate for women over 40, but had lower sensitivity for younger women.
Scientists have successfully silenced extra chromosome 21 in laboratory cultures of patient-derived stem cells using a gene-silencing strategy. This approach reveals genome-wide changes and offers hope for identifying cellular pathways deregulated in Down syndrome, paving the way for potential therapeutics.
Defective stem cell regulation throughout the body may contribute to learning and physical disabilities in people with Down syndrome. Reducing the expression of the Usp16 gene on chromosome 21 alleviates these defects and raises the possibility of an eventual therapy.
Researchers identified a compound that bolsters learning and memory in mice with a Down syndrome-like condition, enabling their cerebellum to grow normally. Further research is needed to understand the treatment's effects on learning and memory.
Researchers establish proof-of-principal for silencing extra chromosome 21 in cells, advancing translational research and surmounting major obstacle to 'chromosome therapy'. This breakthrough paves the way for studying cell pathologies and identifying genome-wide pathways implicated in Down syndrome.