//www.koonmotors.com/news/health_medicine/down's_syndrome/ Read about current medical research on Down Syndrome (DS) including latest genetic research, risk factors and new methods for improving communication with people with Down's Syndrome. en-us Wed, 06 Sep 2023 14:46:26 EDT Wed, 06 Sep 2023 14:46:26 EDT 60 //www.koonmotors.com/images/scidaily-logo-rss.png//www.koonmotors.com/news/health_medicine/down's_syndrome/ For more science news, visit ScienceDaily. //www.koonmotors.com/releases/2023/03/230314104023.htm Researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced. The new mouse model shows milder cognitive traits compared to a previously studied Down syndrome mouse model. Tue, 14 Mar 2023 10:40:23 EDT //www.koonmotors.com/releases/2023/03/230314104023.htm //www.koonmotors.com/releases/2022/12/221201123008.htm 研究了解额外chro的效果mosomes for conditions like Down syndrome typically involves examining what genes play a role in the symptoms of these conditions. However, researchers propose a new way of looking at these conditions, suggesting that when an extra chromosome is present, the impact on the cell depends less on which chromosome is duplicated and more on the presence of extra DNA. Thu, 01 Dec 2022 12:30:08 EST //www.koonmotors.com/releases/2022/12/221201123008.htm //www.koonmotors.com/releases/2022/10/221014135621.htm Individuals with Down syndrome have less-frequent viral infections, but when present, these infections lead to more severe disease. New findings show that this is caused by increased expression of an antiviral cytokine type I interferon (IFN-I), which is partially coded for by chromosome 21. Elevated IFN-I levels lead to hyperactivity of the immune response initially, but the body overcorrects for this to reduce inflammation, leading to increased vulnerability later in the viral attack. Fri, 14 Oct 2022 13:56:21 EDT //www.koonmotors.com/releases/2022/10/221014135621.htm //www.koonmotors.com/releases/2022/08/220816120259.htm A study has gained new insights into changes in heart function and blood pressure in the lungs of babies born with Down Syndrome. Tue, 16 Aug 2022 12:02:59 EDT //www.koonmotors.com/releases/2022/08/220816120259.htm //www.koonmotors.com/releases/2021/02/210222164149.htm A new study found that adults with Down syndrome are more likely to die from COVID-19 than the general population, supporting the need to prioritize vaccinating people with the genetic disorder. Mon, 22 Feb 2021 16:41:49 EST //www.koonmotors.com/releases/2021/02/210222164149.htm //www.koonmotors.com/releases/2021/02/210208100533.htm A study reveals the genetic factors that may expose or protect people with Down syndrome from SARS-CoV-2. TMPRSS2, a gene that codes for an enzyme critical for aiding the entry of SARS-CoV-2 in human cells, had 60 percent higher levels of expression in Down syndrome. The researchers also found higher expression levels for CXCL10, a gene that can trigger cytokine storms. The authors call to vaccinate people with Down syndrome against COVID-19 as a priority. Mon, 08 Feb 2021 10:05:33 EST //www.koonmotors.com/releases/2021/02/210208100533.htm //www.koonmotors.com/releases/2020/12/201216094651.htm Researchers have revealed further insight into the fetal development of our brain and the potential causes of Fragile X syndrome (FSX). Wed, 16 Dec 2020 09:46:51 EST //www.koonmotors.com/releases/2020/12/201216094651.htm //www.koonmotors.com/releases/2020/10/201014141030.htm Results of a retrospective analysis suggest that people born with a heart defect who developed COVID-19 symptoms had a low risk of moderate or severe COVID-19 infection, according to a new article. Wed, 14 Oct 2020 14:10:30 EDT //www.koonmotors.com/releases/2020/10/201014141030.htm //www.koonmotors.com/releases/2020/08/200818142130.htm Researchers have created and characterized a new mouse replica of Down syndrome, long considered one of the most challenging disorders to simulate in laboratory animals. Tue, 18 Aug 2020 14:21:30 EDT //www.koonmotors.com/releases/2020/08/200818142130.htm //www.koonmotors.com/releases/2020/01/200116112605.htm New research has discovered that Down's syndrome, Fragile X syndrome and Williams syndrome are all linked to sleep disruption in very young children, and that sleep plays a crucial role in the development of these children's language skills. Thu, 16 Jan 2020 11:26:05 EST //www.koonmotors.com/releases/2020/01/200116112605.htm //www.koonmotors.com/releases/2019/05/190523142958.htm Targeting a key gene before birth could someday help lead to a treatment for Down syndrome by reversing abnormal embryonic brain development and improving cognitive function after birth, according to a new study. Thu, 23 May 2019 14:29:58 EDT //www.koonmotors.com/releases/2019/05/190523142958.htm //www.koonmotors.com/releases/2019/02/190215092928.htm 研究人员已经澄清了,第一次e mechanism behind a very rare brain disorder called MICPCH (microcephaly, disproportionate pontine and cerebellar hypoplasia) syndrome in animal models. Information gleaned from this study could also inform research into other, more common neurological diseases such as mental retardation, epilepsy, and autism. Fri, 15 Feb 2019 09:29:28 EST //www.koonmotors.com/releases/2019/02/190215092928.htm //www.koonmotors.com/releases/2019/02/190213081657.htm According to the Centers for Disease Control and Prevention, Down syndrome is the most common birth defect, occurring once in every 700 births. However, traditional noninvasive prenatal tests for the condition are unreliable or carry risks for the mother and fetus. Now, researchers have developed a sensitive new biosensor that could someday be used to detect fetal Down syndrome DNA in pregnant women's blood. Wed, 13 Feb 2019 08:16:57 EST //www.koonmotors.com/releases/2019/02/190213081657.htm //www.koonmotors.com/releases/2018/02/180221152411.htm Fragile X syndrome is the most frequent cause of intellectual disability in males, affecting 1 out of 3600 boys born. For the first time, researchers have restored activity to the fragile X syndrome gene in affected neurons using a modified CRISPR/Cas9 system that removes the methylation -- the molecular tags that keep the mutant gene shut off -- suggesting that this method may be useful for targeting diseases caused by abnormal methylation. Wed, 21 Feb 2018 15:24:11 EST //www.koonmotors.com/releases/2018/02/180221152411.htm //www.koonmotors.com/releases/2018/01/180119090148.htm Down's syndrome -- also known as trisomy 21 -- is a genetic disorder caused by an additional third chromosome 21. Although this genetic abnormality is found in one out of 700 births, only 20% of fetuses with trisomy 21 reach full term. But how do they manage to survive the first trimester of pregnancy despite this serious handicap? Researchers have found that children born with Down syndrome have an excellent genome in many ways -- better, in fact, than the average genome of people without the genetic abnormality. Fri, 19 Jan 2018 09:01:48 EST //www.koonmotors.com/releases/2018/01/180119090148.htm //www.koonmotors.com/releases/2017/11/171128091422.htm Down's syndrome, also known as trisomy 21, is one of the most common genetic diseases. Researchers have recently analyzed the proteins of individuals with trisomy 21 for the first time: the goal was to improve our understanding of how a supernumerary copy of chromosome 21 could affect human development. The research shows that trisomy 21, far from only affecting the proteins encoded by the chromosome 21 genes, also impacts on the proteins encoded by the genes located on the other chromosomes. Tue, 28 Nov 2017 09:14:22 EST //www.koonmotors.com/releases/2017/11/171128091422.htm //www.koonmotors.com/releases/2017/11/171107150708.htm A team of neuroscientists have developed an intervention that normalizes multiple biological functions in mice afflicted with Fragile X Syndrome. Tue, 07 Nov 2017 15:07:08 EST //www.koonmotors.com/releases/2017/11/171107150708.htm //www.koonmotors.com/releases/2017/10/171018090222.htm Heart surgery significantly decreases in-hospital mortality among infants with either of two genetic disorders that cause severe physical and intellectual disabilities, according to a new study. Wed, 18 Oct 2017 09:02:22 EDT //www.koonmotors.com/releases/2017/10/171018090222.htm //www.koonmotors.com/releases/2017/08/170825140630.htm New insights into the long-lasting effects of Fragile X syndrome on connections in the brain during early development highlight the importance of early detection and treatment. Fri, 25 Aug 2017 14:06:30 EDT //www.koonmotors.com/releases/2017/08/170825140630.htm //www.koonmotors.com/releases/2017/05/170531151039.htm A phase 2 clinical trial in young adults with Down syndrome of a drug being investigated for the treatment of Alzheimer's disease supports further investigation of its potential. Wed, 31 May 2017 15:10:39 EDT //www.koonmotors.com/releases/2017/05/170531151039.htm //www.koonmotors.com/releases/2017/03/170327143509.htm Three scientists at Children’s Hospital of Philadelphia who identified and studied a genetic disease have been recognized by having their names attached to the disorder. An authoritative reference site for genetic diseases, Online Mendelian Inheritance in Man (OMIM) now designates this condition as Mulchandani-Bhoj-Conlin syndrome (MBCS), characterized by failure to thrive, severe short stature and profound feeding difficulties, caused by an abnormality of chromosome 20. Mon, 27 Mar 2017 14:35:09 EDT //www.koonmotors.com/releases/2017/03/170327143509.htm //www.koonmotors.com/releases/2017/02/170221120819.htm Japanese researchers have confirmed the second case known to science of a chimpanzee born with trisomy 22, a chromosomal defect similar to that of Down syndrome (or trisomy 21) in humans. Tue, 21 Feb 2017 12:08:19 EST //www.koonmotors.com/releases/2017/02/170221120819.htm //www.koonmotors.com/releases/2017/01/170131080158.htm Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder. Tue, 31 Jan 2017 08:01:58 EST //www.koonmotors.com/releases/2017/01/170131080158.htm //www.koonmotors.com/releases/2017/01/170131075315.htm A new study is giving researchers a first look at the early stages of brain development in patients with Fragile X syndrome, a disorder that causes mild to severe intellectual disability and is the most common genetic cause of autism spectrum disorder. Tue, 31 Jan 2017 07:53:15 EST //www.koonmotors.com/releases/2017/01/170131075315.htm //www.koonmotors.com/releases/2016/09/160920130836.htm A new explanation for some of the symptoms of fragile X syndrome, the most common inherited cause of intellectual disability, has been proposed by researchers. Their explanation suggests new targets for treatment. Tue, 20 Sep 2016 13:08:36 EDT //www.koonmotors.com/releases/2016/09/160920130836.htm //www.koonmotors.com/releases/2016/09/160908171232.htm The interferon response is constantly activated in people with Down syndrome causing the body to fight a viral infection when such infection doesn't exist, say scientists. Constant immune system activation would likely cause damaging side-effects and may explain cognitive deficit, increased prevalence of autoimmune disorders, higher risk of Alzheimer's disease, and protection against solid tumors. Testing FDA-approved drugs that block the interferon response could be an important next step, say the investigators. Thu, 08 Sep 2016 17:12:32 EDT //www.koonmotors.com/releases/2016/09/160908171232.htm //www.koonmotors.com/releases/2016/08/160809095303.htm Geneticists have identified an enzyme that regulates the production of sperm and egg cells in human reproduction, and may be linked to Down's Syndrome, Edward's Syndrome and other chromosomal irregularities. Tue, 09 Aug 2016 09:53:03 EDT //www.koonmotors.com/releases/2016/08/160809095303.htm //www.koonmotors.com/releases/2016/07/160705183136.htm A new study identifies an astroglial trigger mechanism as contributing to symptoms of fragile X syndrome in mice. Tue, 05 Jul 2016 18:31:36 EDT //www.koonmotors.com/releases/2016/07/160705183136.htm //www.koonmotors.com/releases/2016/03/160328085139.htm A research group discovered a new function of the chromosomal terminus, which may lead to the clarification of the mechanism for developing abnormal telomere structure such as multiple malformation and mental retardation. Mon, 28 Mar 2016 08:51:39 EDT //www.koonmotors.com/releases/2016/03/160328085139.htm //www.koonmotors.com/releases/2016/02/160203090212.htm Genetic scientists have discovered a new genetic syndrome of obesity, over-eating, mental and behavioral problems in six families, from across the world. The researchers used zebrafish models to study the consequences of chromosome 6 deletion and showed that the deletion has an effect on specific cells in the hypothalamus that produce a hormone called oxytocin. Wed, 03 Feb 2016 09:02:12 EST //www.koonmotors.com/releases/2016/02/160203090212.htm //www.koonmotors.com/releases/2015/10/151027154935.htm Pediatric researchers have developed the first set of growth charts for US children with Down syndrome since 1988. These new charts provide an important tool for pediatricians to evaluate growth milestones for children and adolescents with this condition. With these new charts, pediatricians will be able to compare each patient's growth patterns with peers of the same age and sex who have Down syndrome. Tue, 27 Oct 2015 15:49:35 EDT //www.koonmotors.com/releases/2015/10/151027154935.htm //www.koonmotors.com/releases/2015/08/150818112615.htm Each cell in a woman's body contains two X chromosomes. One of these chromosomes is switched off, because nobody can live with two active X chromosomes. Researchers have now shown the mechanism of spreading of this inactivation over the X chromosome. Tue, 18 Aug 2015 11:26:15 EDT //www.koonmotors.com/releases/2015/08/150818112615.htm //www.koonmotors.com/releases/2015/07/150720114951.htm 智力障碍这个术语涵盖了大型怒mber of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in part caused by a mutation in the control switch gene called MeCP2. In other cases the mechanisms by which they are produced are not clearly identified. Now a research team has discovered a mechanism that identifies a cause of intellectual disabilities in these puzzling cases. Mon, 20 Jul 2015 11:49:51 EDT //www.koonmotors.com/releases/2015/07/150720114951.htm //www.koonmotors.com/releases/2015/07/150709093044.htm Despite compelling evidence about the benefits of breastfeeding, little is known about the breastfeeding experiences of mothers of infants with Down's syndrome. In the UK, clinical commissioning groups and practitioners have a vital role in empowering and enabling these women to access help and support as soon as the child is born, states a new report. Thu, 09 Jul 2015 09:30:44 EDT //www.koonmotors.com/releases/2015/07/150709093044.htm //www.koonmotors.com/releases/2015/06/150619152145.htm 精神疾病很难诊断because clinicians must rely upon interpreted clues, such as a patient's behaviors and feelings. For the first time, researchers report identifying a biological marker: the over-production of specific genes that could be a diagnostic indicator of mental illness in female psychiatric patients. Fri, 19 Jun 2015 15:21:45 EDT //www.koonmotors.com/releases/2015/06/150619152145.htm //www.koonmotors.com/releases/2015/04/150424121847.htm Fragile X syndrome, an inherited cause of autism and intellectual disability, can have consequences even for carriers of the disorder who don't have full-blown symptoms. Fri, 24 Apr 2015 12:18:47 EDT //www.koonmotors.com/releases/2015/04/150424121847.htm //www.koonmotors.com/releases/2015/03/150305125405.htm Sotos syndrome is a congenital syndrome that is characterized by varying degrees of mental retardation and a large head circumference etc. It is known that 90 percent of Sotos syndrome patients have mutations in the NSD1 gene. This time, an international research group has revealed that mutation in the APC2 gene causes symptoms of Sotos syndrome related to the nervous system, from analyses of the Apc2-knockout mouse. Thu, 05 Mar 2015 12:54:05 EST //www.koonmotors.com/releases/2015/03/150305125405.htm //www.koonmotors.com/releases/2015/02/150203104110.htm Cell-free fetal DNA testing, which measures the relative amount of free fetal DNA in a pregnant woman's blood, is a new screening test that indicates the risk of Down syndrome (trisomy 21), researchers report. Tue, 03 Feb 2015 10:41:10 EST //www.koonmotors.com/releases/2015/02/150203104110.htm //www.koonmotors.com/releases/2014/09/140901102201.htm Researchers reveal how the alteration of a single nucleotide—the basic building block of DNA—could initiate fragile X syndrome, the most common inherited form of intellectual disability. Mon, 01 Sep 2014 10:22:01 EDT //www.koonmotors.com/releases/2014/09/140901102201.htm //www.koonmotors.com/releases/2014/08/140808111735.htm A group of geneticists have focused for many years on the genetic characteristics of Down syndrome. They have sequenced the exome, a specific part of our genome, in a cohort of patients affected both by Down Syndrome and acute lymphoblastic leukaemia, a type of cancer relative to the cells of the immune system in the bone marrow. Fri, 08 Aug 2014 11:17:35 EDT //www.koonmotors.com/releases/2014/08/140808111735.htm //www.koonmotors.com/releases/2014/06/140616102815.htm A combination of effective drugs for Parkinson's disease in mice that are used as a model of human Rett syndrome reduces some of the symptoms associated with this disease. Rett syndrome is the second most common cause of mental retardation in women, after Down syndrome. It is a neurodevelopmental disease whose clinical picture begins to appear 6-18 months after birth and involves a loss of intellectual, social and motor skills, accompanied by autistic behaviors, such as repetitive movements of the hands. Mon, 16 Jun 2014 10:28:15 EDT //www.koonmotors.com/releases/2014/06/140616102815.htm //www.koonmotors.com/releases/2014/04/140417191610.htm A new feature of the genetic mutation responsible for the progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome -- the formation of 'R-loops,' has been discovered. Researchers believe it may be associated with the disorder's neurological symptoms, such as tremors, lack of balance, features of Parkinsonism, and cognitive decline. Thu, 17 Apr 2014 19:16:10 EDT //www.koonmotors.com/releases/2014/04/140417191610.htm //www.koonmotors.com/releases/2014/02/140203084246.htm Noninvasive prenatal testing detected 83.2 percent of chromosomal abnormalities normally picked up by invasive diagnostic testing strategies, such as chorionic villus sampling or amniocentesis. Mon, 03 Feb 2014 08:42:46 EST //www.koonmotors.com/releases/2014/02/140203084246.htm //www.koonmotors.com/releases/2013/11/131127122309.htm Most trisomic pregnancies arise as a consequence of chromosome missegregation in egg precursor cells called oocytes. Austrian researchers aim to understand the molecular causes of female age-dependent chromosome missegregation in oocytes. They have now discovered that a “molecular glue” called cohesin plays an important role in proper functioning of checkpoint control, ensuring correct chromosome segregation and production of euploid eggs. Wed, 27 Nov 2013 12:23:09 EST //www.koonmotors.com/releases/2013/11/131127122309.htm //www.koonmotors.com/releases/2013/10/131022170726.htm Inspired by natural process that silences one copy of female mammals' two sex-determining X chromosomes during embryonic development, researchers develop way to silence extra chromosome of trisomy 21, or Down syndrome. Tue, 22 Oct 2013 17:07:26 EDT //www.koonmotors.com/releases/2013/10/131022170726.htm //www.koonmotors.com/releases/2013/09/130925092229.htm Research has found a greater number of "escaping genes" on the X chromosome than have been previously detected, with implications for the understanding of mental impairment in humans. Wed, 25 Sep 2013 09:22:29 EDT //www.koonmotors.com/releases/2013/09/130925092229.htm //www.koonmotors.com/releases/2013/07/130717132330.htm 科学家们建立了一个自然发生的ring X chromosome "off switch" can be rerouted to neutralize the extra chromosome responsible for trisomy 21, also known as Down syndrome, a genetic disorder characterized by cognitive impairment. The discovery provides the first evidence that the underlying genetic defect responsible for Down syndrome can be suppressed in cells in culture. Wed, 17 Jul 2013 13:23:30 EDT //www.koonmotors.com/releases/2013/07/130717132330.htm //www.koonmotors.com/releases/2013/06/130605132902.htm Researchers have determined how a gene that is known to be defective in Down syndrome is regulated and how its dysregulation may lead to neurological defects, providing insights into potential therapeutic approaches to an aspect of the syndrome. Wed, 05 Jun 2013 13:29:02 EDT //www.koonmotors.com/releases/2013/06/130605132902.htm //www.koonmotors.com/releases/2013/05/130527153656.htm Brain cells have been grown from skin cells of individuals with Down syndrome. Mon, 27 May 2013 15:36:56 EDT //www.koonmotors.com/releases/2013/05/130527153656.htm //www.koonmotors.com/releases/2013/05/130502142653.htm Researchers have described alterations in noncoding long chain RNA sequences in Rett syndrome. Thu, 02 May 2013 14:26:53 EDT //www.koonmotors.com/releases/2013/05/130502142653.htm //www.koonmotors.com/releases/2013/04/130415182507.htm Using insights gained from studying two much rarer disorders, Down Syndrome and Niemann Pick-C disease, researchers found that cholesterol wreaks havoc on the orderly process of cell division, leading to defective daughter cells throughout the body. Mon, 15 Apr 2013 18:25:07 EDT //www.koonmotors.com/releases/2013/04/130415182507.htm //www.koonmotors.com/releases/2013/04/130410082413.htm Researchers have discovered a new therapy for the fragile X chromosome syndrome. This new therapy proposes the modulation of the cerebral endocannabinoid system in order to ameliorate the symptoms of the disease. Wed, 10 Apr 2013 08:24:13 EDT //www.koonmotors.com/releases/2013/04/130410082413.htm //www.koonmotors.com/releases/2013/02/130220123411.htm The most common inherited form of mental retardation and autism, fragile X syndrome, turns some brain cells into chatterboxes, scientists report. The extra talk may make it harder for brain cells to identify and attend to important signals. Wed, 20 Feb 2013 12:34:11 EST //www.koonmotors.com/releases/2013/02/130220123411.htm //www.koonmotors.com/releases/2012/12/121220195749.htm A single genetic defect on the X chromosome that can result in a wide array of conditions -- from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men -- occurs at a much greater frequency than previously thought, new research has found. Thu, 20 Dec 2012 19:57:49 EST //www.koonmotors.com/releases/2012/12/121220195749.htm //www.koonmotors.com/releases/2012/11/121109091202.htm Scientists succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome. Persons with this condition have three copies of this chromosome. The method would not lead to a treatment for Down syndrome, but could lead to treatments for some conditions associated with it, such as leukemia. Comparing tissue development from cell cultures from the same individual, with and without the extra chromosome, could provide clues to developmental delays and early aging problems in Down syndrome. Fri, 09 Nov 2012 09:12:02 EST //www.koonmotors.com/releases/2012/11/121109091202.htm //www.koonmotors.com/releases/2012/09/120925121349.htm Scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of autism. Tue, 25 Sep 2012 12:13:49 EDT //www.koonmotors.com/releases/2012/09/120925121349.htm //www.koonmotors.com/releases/2012/09/120904170924.htm Scientists have designed a compound that shows promise as a potential therapy for one of the diseases closely linked to fragile X syndrome, a genetic condition that causes mental retardation, infertility, and memory impairment, and is the only known single-gene cause of autism. Tue, 04 Sep 2012 17:09:24 EDT //www.koonmotors.com/releases/2012/09/120904170924.htm //www.koonmotors.com/releases/2012/08/120803121010.htm Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways, researchers report. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain. Fri, 03 Aug 2012 12:10:10 EDT //www.koonmotors.com/releases/2012/08/120803121010.htm //www.koonmotors.com/releases/2012/05/120510122806.htm A recently evolved pattern of gene activity in the language and decision-making centers of the human brain is missing in a disorder associated with autism and learning disabilities, a new study shows. Thu, 10 May 2012 12:28:06 EDT //www.koonmotors.com/releases/2012/05/120510122806.htm //www.koonmotors.com/releases/2012/03/120301083545.htm Down syndrome (DS) is the most common genetic disorder in live born children arising as a consequence of a chromosomal abnormality. It occurs as a result of having three copies of chromosome 21, instead of the usual two. It causes substantial physical and behavioral abnormalities, including life-long cognitive dysfunction that can range from mild to severe but which further deteriorates as individuals with DS age. Thu, 01 Mar 2012 08:35:45 EST //www.koonmotors.com/releases/2012/03/120301083545.htm