http://www.sciencedaily.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, 19 Jun 2013 18:55:11 EDT Wed, 19 Jun 2013 18:55:11 EDT 60 http://www.sciencedaily.com/images/logosmall.gif http://www.sciencedaily.com/news/health_medicine/down's_syndrome/ For more science articles, visit ScienceDaily. http://www.sciencedaily.com/releases/2013/06/130614082647.htm By identifying a protein that acts as a genetic modifier, scientists have solved the mystery of why some infants are born with a grave syndrome consisting of cleft palate and major deformities of the skin and limbs, while other infants with the same predisposing genetic mutation bear little or no sign of the illness, called EEC. Fri, 14 Jun 2013 08:26:26 EDT http://www.sciencedaily.com/releases/2013/06/130614082647.htm http://www.sciencedaily.com/releases/2013/06/130607131014.htm Scientists have unlocked the mystery of why new cases of the genetic disease Noonan syndrome are so common; a mutation that causes the disease disproportionately increases a normal father's production of sperm carrying the disease trait. Fri, 07 Jun 2013 13:10:10 EDT http://www.sciencedaily.com/releases/2013/06/130607131014.htm http://www.sciencedaily.com/releases/2013/06/130607085203.htm New research has found that routine screening using a non-invasive test that analyzes fetal DNA in a pregnant woman's blood can accurately detect Down's syndrome and other genetic fetal abnormalities in the first trimester. The results suggest that the test is superior to currently available screening strategies and could reshape standards in prenatal testing. Fri, 07 Jun 2013 08:52:52 EDT http://www.sciencedaily.com/releases/2013/06/130607085203.htm http://www.sciencedaily.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 13:29:29 EDT http://www.sciencedaily.com/releases/2013/06/130605132902.htm http://www.sciencedaily.com/releases/2013/06/130603133326.htm Researchers find abnormal brain networks in Fragile X syndrome, a genetic malady that is the most common inherited cause of autism and intellectual disability. Mon, 03 Jun 2013 13:33:33 EDT http://www.sciencedaily.com/releases/2013/06/130603133326.htm http://www.sciencedaily.com/releases/2013/06/130603113616.htm New research shows little change in babies' ability to roll from their tummy to back and vice versa 20 years after 'back to sleep' campaign. Mon, 03 Jun 2013 11:36:36 EDT http://www.sciencedaily.com/releases/2013/06/130603113616.htm http://www.sciencedaily.com/releases/2013/05/130527153656.htm Brain cells have been grown from skin cells of individuals with Down syndrome. Mon, 27 May 2013 15:36:36 EDT http://www.sciencedaily.com/releases/2013/05/130527153656.htm http://www.sciencedaily.com/releases/2013/05/130527100532.htm A new gene associated with a form of congenital heart disease in newborn babies – known as “a hole in the heart” has been discovered by researchers. Mon, 27 May 2013 10:05:05 EDT http://www.sciencedaily.com/releases/2013/05/130527100532.htm http://www.sciencedaily.com/releases/2013/05/130520154249.htm Researchers have for the first time used a novel form of MRI to identify crucial developmental processes in the brain that are vulnerable to the effects of premature birth. This new study shows that disruption of these specific processes can have an impact on cognitive function. Mon, 20 May 2013 15:42:42 EDT http://www.sciencedaily.com/releases/2013/05/130520154249.htm http://www.sciencedaily.com/releases/2013/05/130506094856.htm Researcher estimates that lead exposure could cause mental retardation in 6 in 1,000 children living near toxic waste sites. Mon, 06 May 2013 09:48:48 EDT http://www.sciencedaily.com/releases/2013/05/130506094856.htm http://www.sciencedaily.com/releases/2013/05/130502142653.htm Researchers have described alterations in noncoding long chain RNA sequences in Rett syndrome. Thu, 02 May 2013 14:26:26 EDT http://www.sciencedaily.com/releases/2013/05/130502142653.htm http://www.sciencedaily.com/releases/2013/04/130417091933.htm Researchers have identified a gene behind an epilepsy syndrome, which could also play an important role in other idiopathic (genetically caused) epilepsies. With the so-called "next generation sequencing", with which genetic changes can be identified within a few days, it was ascertained that the CNTN2 gene is defective in this type of epilepsy.  Wed, 17 Apr 2013 09:19:19 EDT http://www.sciencedaily.com/releases/2013/04/130417091933.htm http://www.sciencedaily.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 18:25:25 EDT http://www.sciencedaily.com/releases/2013/04/130415182507.htm http://www.sciencedaily.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 08:24:24 EDT http://www.sciencedaily.com/releases/2013/04/130410082413.htm http://www.sciencedaily.com/releases/2013/04/130408184459.htm Minocycline, an older, broad-spectrum antibiotic in the tetracycline family, provides meaningful improvements as a therapeutic for children with fragile X syndrome, a study has found. Mon, 08 Apr 2013 18:44:44 EDT http://www.sciencedaily.com/releases/2013/04/130408184459.htm http://www.sciencedaily.com/releases/2013/03/130326101532.htm Results from a new study are providing significant insights into autism through the study of a specific form of the disorder caused by a duplication on chromosome 15. Tue, 26 Mar 2013 10:15:15 EDT http://www.sciencedaily.com/releases/2013/03/130326101532.htm http://www.sciencedaily.com/releases/2013/03/130324152305.htm What is it about the extra chromosome inherited in Down syndrome -- chromosome 21 -- that alters brain and body development? Researchers have new evidence that points to the protein SNX27. SNX27 is inhibited by a molecule encoded on chromosome 21. The study shows that SNX27 is reduced in human Down syndrome brains. Restoring SNX27 in Down syndrome mice improves cognitive function and behavior. Sun, 24 Mar 2013 15:23:23 EDT http://www.sciencedaily.com/releases/2013/03/130324152305.htm http://www.sciencedaily.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 12:34:34 EST http://www.sciencedaily.com/releases/2013/02/130220123411.htm http://www.sciencedaily.com/releases/2013/02/130219121351.htm Pregnant women who received the H1N1 influenza vaccine during the 2009 pandemic were less likely to have premature babies, and their babies weighed more on average. Tue, 19 Feb 2013 12:13:13 EST http://www.sciencedaily.com/releases/2013/02/130219121351.htm http://www.sciencedaily.com/releases/2013/02/130213152120.htm Individuals who have a high preference for sweets and a high aversion to bitter flavors may be at an increased risk of developing metabolic syndrome, according to a new study. Researchers analyzed how two tasting profiles, sweet likers (SL) and supertasters (ST), interact and affect dietary intake and health, particularly metabolic syndrome. Wed, 13 Feb 2013 15:21:21 EST http://www.sciencedaily.com/releases/2013/02/130213152120.htm http://www.sciencedaily.com/releases/2013/02/130204220814.htm Mutations which affect the gene ASXL3 cause a novel syndrome similar to Bohring-Opitz syndrome, finds a a new study. This molecular definition distinguishes these children from those with Bohring-Opitz, and other similar syndromes, and highlights a technique able to help define rare diseases. Mon, 04 Feb 2013 22:08:08 EST http://www.sciencedaily.com/releases/2013/02/130204220814.htm http://www.sciencedaily.com/releases/2013/01/130111092729.htm A new study has revealed some of the underlying neural factors that explain why people with Down syndrome are more susceptible to Alzheimer's disease, diabetes and autistic spectrum disorders. Fri, 11 Jan 2013 09:27:27 EST http://www.sciencedaily.com/releases/2013/01/130111092729.htm http://www.sciencedaily.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 19:57:57 EST http://www.sciencedaily.com/releases/2012/12/121220195749.htm http://www.sciencedaily.com/releases/2012/12/121217091552.htm A new analysis has found that loading up on snack foods may increase cancer risk in individuals with an inborn susceptibility to colorectal and other cancers. The study suggests that an eating pattern low in snack foods could help these individuals -- who have a condition called Lynch syndrome -- lower their risk. Mon, 17 Dec 2012 09:15:15 EST http://www.sciencedaily.com/releases/2012/12/121217091552.htm http://www.sciencedaily.com/releases/2012/12/121212134052.htm Doctors have known for many years that patients with fragile X syndrome, the most common form of inherited intellectual disability, are often also diagnosed with autism. But little has been known about how the two diagnoses are related. Now scientists have pinpointed the precise genetic footprint that links the two. Wed, 12 Dec 2012 13:40:40 EST http://www.sciencedaily.com/releases/2012/12/121212134052.htm http://www.sciencedaily.com/releases/2012/12/121210080641.htm Giving iron supplements to low birth weight infants reduces the risk of behavior problems like ADHD later in life, according to a new study. Mon, 10 Dec 2012 08:06:06 EST http://www.sciencedaily.com/releases/2012/12/121210080641.htm http://www.sciencedaily.com/releases/2012/12/121203121630.htm Researchers report that lithium, a drug commonly used for the treatment of mood disorders in humans, restores neurogenesis in the hippocampus, a part of the brain strongly associated with learning and memory. Mon, 03 Dec 2012 12:16:16 EST http://www.sciencedaily.com/releases/2012/12/121203121630.htm http://www.sciencedaily.com/releases/2012/11/121130095257.htm Mice with a condition that serves as a laboratory model for Down syndrome perform better on memory and learning tasks as adults if they were treated before birth with neuroprotective peptides, according to researchers. Fri, 30 Nov 2012 09:52:52 EST http://www.sciencedaily.com/releases/2012/11/121130095257.htm http://www.sciencedaily.com/releases/2012/11/121127130256.htm Some infants are more susceptible to potentially life-threatening breathing problems after birth, and rare, inherited DNA differences may explain why, according to new research. Tue, 27 Nov 2012 13:02:02 EST http://www.sciencedaily.com/releases/2012/11/121127130256.htm http://www.sciencedaily.com/releases/2012/11/121115133320.htm An Australian study reveals that people with the rare genetic disorder known as Prader-Willi Syndrome may have an impaired autonomic nervous system. This discovery opens up a new way of looking at the insatiable appetite experienced by all sufferers, as well as their very high risk of cardiovascular disease. Thu, 15 Nov 2012 13:33:33 EST http://www.sciencedaily.com/releases/2012/11/121115133320.htm http://www.sciencedaily.com/releases/2012/11/121113122133.htm Researchers have tracked a gene's crucial role in orchestrating the placement of neurons in the developing brain. Their findings help unravel some of the mysteries of Joubert syndrome and other neurological disorders. Tue, 13 Nov 2012 12:21:21 EST http://www.sciencedaily.com/releases/2012/11/121113122133.htm http://www.sciencedaily.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 09:12:12 EST http://www.sciencedaily.com/releases/2012/11/121109091202.htm http://www.sciencedaily.com/releases/2012/11/121107141042.htm Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, a relatively brief timeframe that should enable physicians to predict diagnosis of serious congenital disorders prenatally to counsel the parents and plan perinatal care of infants with chromosomal rearrangements. Wed, 07 Nov 2012 14:10:10 EST http://www.sciencedaily.com/releases/2012/11/121107141042.htm http://www.sciencedaily.com/releases/2012/11/121105140211.htm Researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety -- but not intelligence -- is linked to poorer adaptive behaviors, such as self-care and communication skills, that affect daily life. The developmental syndrome, which is associated with a constellation of physical, cognitive and psychiatric problems, usually is apparent at birth or early childhood, and leads to lifelong challenges. Mon, 05 Nov 2012 14:02:02 EST http://www.sciencedaily.com/releases/2012/11/121105140211.htm http://www.sciencedaily.com/releases/2012/10/121030210535.htm A new analysis of the Women's Health Initiative trials show that women who had metabolic syndrome before they started hormone therapy had a greatly increased risk of heart attack or dying of heart disease. Women who didn't have metabolic syndrome beforehand showed no increased risk. Tue, 30 Oct 2012 21:05:05 EDT http://www.sciencedaily.com/releases/2012/10/121030210535.htm http://www.sciencedaily.com/releases/2012/10/121020162613.htm In vitro fertilization may significantly increase the risk of birth defects, particularly those of the eye, heart, reproductive organs and urinary systems, according to new research. Sat, 20 Oct 2012 16:26:26 EDT http://www.sciencedaily.com/releases/2012/10/121020162613.htm http://www.sciencedaily.com/releases/2012/10/121009171456.htm Scientists studying a rare genetic disorder have identified a molecular pathway that may play a role in schizophrenia, according to new research. The findings may one day guide researchers to new treatment options for people with schizophrenia -- a devastating disease that affects approximately 1% of the world's population. Tue, 09 Oct 2012 17:14:14 EDT http://www.sciencedaily.com/releases/2012/10/121009171456.htm http://www.sciencedaily.com/releases/2012/10/121003132418.htm A promising study shows that in a mouse model of Rett syndrome, researchers were able to reverse abnormalities in brain activity and improve neurological function by treating the animals with an FDA-approved anesthesia drug, ketamine. Rett syndrome is among the most severe autism-related disorders, affecting about one in 10,000 female births per year, with no effective treatments available. Wed, 03 Oct 2012 13:24:24 EDT http://www.sciencedaily.com/releases/2012/10/121003132418.htm http://www.sciencedaily.com/releases/2012/09/120930142104.htm Researchers have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1. Sun, 30 Sep 2012 14:21:21 EDT http://www.sciencedaily.com/releases/2012/09/120930142104.htm http://www.sciencedaily.com/releases/2012/09/120928125254.htm A common herbicide used in the United States may be linked to an increased risk of a congenital abnormality of the nasal cavity known as choanal atresia, say researchers. Fri, 28 Sep 2012 12:52:52 EDT http://www.sciencedaily.com/releases/2012/09/120928125254.htm http://www.sciencedaily.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 12:13:13 EDT http://www.sciencedaily.com/releases/2012/09/120925121349.htm http://www.sciencedaily.com/releases/2012/09/120924152528.htm A researcher has found new evidence that the plastic additive BPA can disrupt women's reproductive systems, causing chromosome damage, miscarriages and birth defects. Scientists report seeing reproductive abnormalities in rhesus monkeys with BPA levels similar to those of humans. Mon, 24 Sep 2012 15:25:25 EDT http://www.sciencedaily.com/releases/2012/09/120924152528.htm http://www.sciencedaily.com/releases/2012/09/120923141220.htm ew mouse models can help scientists study a rare disease, called SECISBP2 syndrome, that causes abnormal thyroid hormone metabolism, delayed bone maturation, as well as other abnormal characteristics that vary by individual, according to new data. Sun, 23 Sep 2012 14:12:12 EDT http://www.sciencedaily.com/releases/2012/09/120923141220.htm http://www.sciencedaily.com/releases/2012/09/120919142142.htm An investigational compound that targets the core symptoms of fragile X syndrome is effective for addressing the social withdrawal and challenging behaviors characteristic of the condition, making it the first such discovery for fragile X syndrome and, potentially, the first for autism spectrum disorder, a study has found. Wed, 19 Sep 2012 14:21:21 EDT http://www.sciencedaily.com/releases/2012/09/120919142142.htm http://www.sciencedaily.com/releases/2012/09/120919142140.htm An investigational compound that targets the core symptoms of fragile X syndrome is effective for addressing the social withdrawal and challenging behaviors characteristic of the condition, making it the first such discovery for fragile X syndrome and, potentially, the first for autism spectrum disorder, a study has found. Wed, 19 Sep 2012 14:21:21 EDT http://www.sciencedaily.com/releases/2012/09/120919142140.htm http://www.sciencedaily.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 17:09:09 EDT http://www.sciencedaily.com/releases/2012/09/120904170924.htm http://www.sciencedaily.com/releases/2012/08/120831083313.htm Two to three percent of children are born with an intellectual disability. Possibly by a genetic defect, but in 80 percent of these cases, we do not know -- yet -- which genes are responsible. Increased production of the HUWE1 protein is the cause in some patients, new research shows. Fri, 31 Aug 2012 08:33:33 EDT http://www.sciencedaily.com/releases/2012/08/120831083313.htm http://www.sciencedaily.com/releases/2012/08/120827130655.htm Increased levels of depression as a result of discrimination could contribute to low birth weight babies. Mon, 27 Aug 2012 13:06:06 EDT http://www.sciencedaily.com/releases/2012/08/120827130655.htm http://www.sciencedaily.com/releases/2012/08/120823143101.htm The discovery of a 'switch' that modifies a gene known to be essential for normal heart development could explain variations in the severity of birth defects in children with DiGeorge syndrome. Thu, 23 Aug 2012 14:31:31 EDT http://www.sciencedaily.com/releases/2012/08/120823143101.htm http://www.sciencedaily.com/releases/2012/08/120816201505.htm While the health benefits of breast feeding baby are well known, a new study finds that, for very low birth weight (VLBW) babies, a small amount of fortification can improve growth rates without sacrificing the benefits associated with mother’s milk. Human milk provides babies with exactly the right nutrients for growth and also helps protect against infections and diseases. Breast fed babies are less likely to have diarrhea or vomiting, they have fewer chest and ear infections, and long term are less likely to become obese or develop eczema. However, in hospitals human milk is also associated with slower growth in the first few months of life compared to formula-fed infants. Thu, 16 Aug 2012 20:15:15 EDT http://www.sciencedaily.com/releases/2012/08/120816201505.htm http://www.sciencedaily.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 http://www.sciencedaily.com/releases/2012/08/120803121010.htm http://www.sciencedaily.com/releases/2012/07/120723162654.htm Most children exposed to high levels of alcohol in the womb do not develop the distinct facial features seen in fetal alcohol syndrome, but instead show signs of abnormal intellectual or behavioral development, according to a new study. Mon, 23 Jul 2012 16:26:26 EDT http://www.sciencedaily.com/releases/2012/07/120723162654.htm http://www.sciencedaily.com/releases/2012/07/120718103149.htm Metabolic syndrome, a term used to describe a combination of risk factors that often lead to heart disease and type 2 diabetes, seems to be linked to lower blood flow to the brain, according to new research. Wed, 18 Jul 2012 10:31:31 EDT http://www.sciencedaily.com/releases/2012/07/120718103149.htm http://www.sciencedaily.com/releases/2012/07/120718074029.htm Workplace exposure to organic solvents is linked to several types of heart defects at birth, indicates new research. Wed, 18 Jul 2012 07:40:40 EDT http://www.sciencedaily.com/releases/2012/07/120718074029.htm http://www.sciencedaily.com/releases/2012/07/120718074027.htm Several types of job carried out by future fathers may be linked to an increased risk of birth defects in their babies, suggests new research. These included: mathematicians, physicists, computer scientists; artists; photographers and photo processors; food service workers; landscapers and groundsmen; hairdressers and make-up artists; office and admin support workers; office and admin support workers; sawmill operatives; those working with petrol and gas; those working in chemical industries; printers; those operating cranes and diggers; and drivers. Wed, 18 Jul 2012 07:40:40 EDT http://www.sciencedaily.com/releases/2012/07/120718074027.htm http://www.sciencedaily.com/releases/2012/07/120717141007.htm Researchers have found a drug that boosts memory function in those with Down syndrome, a major milestone in the treatment of this genetic disorder that could significantly improve quality of life. Tue, 17 Jul 2012 14:10:10 EDT http://www.sciencedaily.com/releases/2012/07/120717141007.htm http://www.sciencedaily.com/releases/2012/07/120712092616.htm Researchers have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder. Mutations in the AFF2 gene, and other genes like it on the X chromosome, may explain why autism spectrum disorders affect four times as many boys as girls. Thu, 12 Jul 2012 09:26:26 EDT http://www.sciencedaily.com/releases/2012/07/120712092616.htm http://www.sciencedaily.com/releases/2012/07/120705172052.htm A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists. Thu, 05 Jul 2012 17:20:20 EDT http://www.sciencedaily.com/releases/2012/07/120705172052.htm http://www.sciencedaily.com/releases/2012/07/120704182127.htm Researchers have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother. The new technique hinges on the fact that pregnant women have DNA from both their cells and the cells of their fetus circulating freely in their blood. Wed, 04 Jul 2012 18:21:21 EDT http://www.sciencedaily.com/releases/2012/07/120704182127.htm http://www.sciencedaily.com/releases/2012/07/120702192512.htm Using a mouse model of autism, researchers have successfully treated an autism spectrum disorder characterized by severe cognitive impairment. Mon, 02 Jul 2012 19:25:25 EDT http://www.sciencedaily.com/releases/2012/07/120702192512.htm