Articles tagged with Down Syndrome
Researchers have made a major breakthrough in understanding the genetics of Down syndrome by identifying a new mechanism involved in its expression. The study found that RCAN1, a gene overexpressed in Down syndrome brains, regulates synaptic plasticity, which affects learning and memory.
Parents receiving prenatal Down syndrome diagnosis face complex decision-making, with most choosing to continue pregnancy despite low prenatal screening uptake. Key factors influencing their decisions include perceived welcome of a child with DS, quality of screening test, and information provided.
Researchers identified specific regions of chromosome 21 causing memory and decision-making problems in mice with Down syndrome. The study found that different gene groups on mouse chromosomes 16, 10, and 17 contribute to cognitive issues.
Researchers at Tohoku University have developed a molecule called AUTAC that can target specific intracellular components for degradation via autophagy. This process has been impaired in some cancers and neurodegenerative diseases, such as Down syndrome, making AUTAC a promising innovation for disease treatment.
Researchers at the University of Missouri conducted a longitudinal study on catatonia in Down syndrome, identifying Lorazepam and electroconvulsive therapy as effective treatments. The study highlights the need for sustained treatment to maintain recovery long-term.
Researchers found that inhibiting the integrated stress response (ISR) reversed memory deficits in a mouse model of Down syndrome. The study suggests that modulating ISR networks may help treat Down syndrome and other disorders resulting from disruption of this network.
A study found that children with Down syndrome are at an increased risk of developing inflammatory and erosive arthritis. Researchers estimate that around 20 per 1,000 children with Down syndrome have this condition.
Patients with Down syndrome arthropathy experience a 11.5-month delay in diagnosis from symptom onset, and optimal therapy remains unclear due to medication intolerance and ineffectiveness. The study aims to raise awareness and improve screening for this condition.
Researchers identified the GRIK1 gene as a cause of spatial orientation problems in people with Down syndrome. Normalizing the dose of this gene in mouse models reversed the imbalance and eliminated spatial memory issues.
A recent NIH-funded study highlights the need for research on aging individuals with Down syndrome. The analysis reveals that nearly a third of those aged 55+ have filed at least three claims for Alzheimer's disease.
A new study shows that nearly all adults with Down syndrome harbor signs of dementia by age 40, and by age 55, three in five will be diagnosed with Alzheimer's disease or a similar neurodegenerative condition. The study highlights the need for early diagnosis and support services for people with Down syndrome as they age.
Children with Down syndrome are 10-20 times more likely to develop Acute Lymphoblastic Leukemia (ALL) than children without the condition. Researchers at Baylor College of Medicine have made breakthroughs in understanding this risk, identifying genetic variants associated with increased ALL susceptibility.
Stylianos E. Antonarakis is awarded the William Allan Award for his life's work on understanding the human genome and its relation to complex disorders. He has made significant contributions to the genetic basis of Mendelian and complex genetic disease, chromosome 21 biology and Down syndrome.
Boston University School of Medicine researcher Tarik F. Haydar received a $453,750 NIH grant to develop human stem cell-derived cultures for studying white matter abnormality in Down syndrome. He aims to understand how neural stem cells generate the cerebral cortex.
Researchers discovered 43 specific genetic mutations required for leukemia development in children with Down syndrome. The study identified additional genetic changes transforming preleukaemic cells into leukaemic ones.
A study by Massachusetts General Hospital found that none of the US commercial laboratories offering noninvasive prenatal screening (NIPS) fully meet the American College of Medical Genetics and Genomics recommendations for genetic disorder detection and reporting. The report highlights inconsistencies and inadequacies in NIPS test res...
EpiSign analyzes DNA methylation patterns to diagnose or resolve variants of uncertain significance in patients with genetic disorders and congenital anomalies. The test has identified unique epigenetic signatures for 19 genetic disorders, including those associated with intellectual disability and congenital anomalies.
The new center aims to increase understanding of Down syndrome's biology and neuroscience, developing novel interventions and technologies to improve quality of life for people with the condition. It will also provide training opportunities for early career scientists and students.
A new biosensor has been developed to detect fetal Down syndrome DNA in pregnant women's blood, offering a fast, sensitive, and cost-effective alternative to traditional tests. The sensor can detect DNA concentrations as low as 0.1 fM/L, making it more sensitive than other reported field-effect transistor DNA sensors.
A study found that cannabinoid receptor type-1 is involved in memory problems associated with Down syndrome. Inhibiting CB1 receptors improved memory and synaptic plasticity in mouse models.
A new study from MGHfC and colleagues in the Netherlands investigated the development of functional skills in persons with Down syndrome. The results indicate that most people with Down syndrome can walk, speak clearly, and maintain personal hygiene by certain ages, with some improvements possible into adulthood.
A European research project aims to uncover the physiological pathways underlying neurodegenerative diseases like Alzheimer's disease, Parkinson's disease, and Down syndrome, which are linked by evolving dementia. The HEROES project seeks to develop biomarkers for dementia progression and explore new therapeutic approaches.
New research from King's College London identifies changes in memory and attention as earliest signs of Alzheimer's in Down syndrome, paving the way for prevention trials. The study suggests that treatments could delay symptoms if started in the mid-30s with relatively low participant numbers.
A recent study published in JAMA Neurology reveals that adults with Down syndrome are more likely to die from dementia, highlighting the importance of studying disease progression and potential treatments for this population. The study, which included 211 adults, found that 70% of those who died had dementia.
A study found that napping after learning can worsen memory retention in children with Down syndrome, unlike typical children who benefit from napping. Researchers suggest that REM sleep may play a role in this disparity.
Researchers transplanted human brain cells into mice brains to study the development and function of these cells in a natural environment. The study found that brain cells from individuals with Down syndrome were less coordinated but more stable than those without the condition.
Facial scans aim to identify Phelan-McDermid syndrome in children by analyzing characteristic flattening and brow shape. This could enable quicker diagnoses and better treatment options for affected families.
A survey of 1,167 parents of children with Down syndrome found that 49% give or have given supplements to improve their child's health. The most popular supplement categories include antioxidants and vitamins, but some products pose unknown health risks due to lack of regulation.
Researchers found that extra copies of genes on chromosome 21 increase Alzheimer's-like brain pathology in a mouse model of Down syndrome. The study could lead to future medicines to prevent early onset Alzheimer's disease in people with Down syndrome.
A study by UNIGE and UNIL researchers found that individuals with Down syndrome have an excellent genome, better than the average genome of people without the genetic abnormality. This high-quality genome may compensate for the disabilities caused by the extra chromosome 21, enabling some fetuses to reach full term and grow up to old age.
The study found that trisomy 21 affects proteins on all chromosomes, leading to an overdose of proteins and dysregulated cellular functions. This deregulation disrupts the cell's ability to regulate protein production, resulting in symptoms such as intellectual impairment and congenital heart disease.
Researchers at University of Michigan develop new PCR-based approach to study chromosomes' centers, yielding clues about Down syndrome. The technique accelerates analysis of centromere DNA, potentially leading to breakthroughs in birth defects and cancers.
A new DNA antenatal screening method has been shown to be more accurate and safer than existing methods, detecting 101 out of 106 affected pregnancies. The method reduces false-positive rates by 100-fold, providing women with fewer anxious moments.
A recent study published in Pediatrics found that infants with trisomy 13 or 18 who underwent heart surgery had a significant decrease in in-hospital mortality and an increase in survival rates. This benefit lasted for up to two years, doubling the number of babies that survive more than one year after surgery.
A Case Western Reserve University-led study assessing memantine's cognitive-enhancing effects on adolescents and young adults with Down syndrome has been approved in São Paulo, Brazil. The trial aims to build on previous findings and could lead to a much larger final phase of testing.
A new study estimates the numbers of children born annually with Down syndrome and the prevalence of the condition in each of the nine US states. The study found that live birth prevalence ranged from 1 in 729 to 1 in 1,256 across the states, while elective termination reduced the number of births by an average of 39%.
Researchers at the University of Adelaide have discovered that T-cells in patients with diarrhea-predominant irritable bowel syndrome (IBS-D) are exhausted, leading to reduced responsiveness and secretion of mediators. This finding may help distinguish between different types of IBS and improve diagnosis and treatment options.
A phase 2 clinical trial of scyllo-inositol found the treatment to be safe and tolerable in young adults with Down syndrome. The study suggests further investigation into its potential for treating Alzheimer's disease in this population.
A study found that people with Down syndrome experienced nearly three times greater variability in autorefractor testing compared to a control group. This increased variability can lead to incorrect vision prescriptions and reduced chances of reaching the best possible refraction for those with Down syndrome.
Researchers identified urinary biomarkers that distinguish between children with Down syndrome who have and don't have obstructive sleep apnea. The study found significant differences in biomarker signatures between all participants with Down syndrome and typically developing children, regardless of OSA presence or absence.
Researchers found that treating polycystic ovary syndrome (PCOS) early can restore ovulation and normalize symptoms, potentially preventing future subfertility. The study suggests a new approach to treating PCOS, using SPIOMET to reduce visceral fat and insulin levels.
Case Western Reserve University researchers have developed a breakthrough technique to create durable stem cells directly from urine, providing an ethically sound and clinically relevant model for studying Down syndrome. The new method represents a significant improvement in induced pluripotent stem cell technology.
Researchers developed facial analysis technology to diagnose 22q11.2 deletion syndrome, a rare genetic disease affecting 1 in 3,000 to 1 in 6,000 children. The software correctly diagnosed the disease in 96.6% of cases across different ethnic groups.
Kanako, a 24-year-old chimp, has been diagnosed with trisomy 22, a chromosomal defect similar to human Down syndrome. She experiences stunted growth, congenital heart disease, blindness, and vision problems, highlighting the need for care and research into this condition in apes.
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 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 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 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 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.
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.
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.