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 Sat, 26 May 2012 13:05:01 EDT Sat, 26 May 2012 13:05:01 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/2012/05/120522084524.htm Researchers have achieved, for the first time, the generation of neuronal cells from stem cells of Fragile X patients. The discovery paves the way for research that will examine restoration of normal gene expression in Fragile X patients. Tue, 22 May 2012 08:45:45 EDT http://www.sciencedaily.com/releases/2012/05/120522084524.htm http://www.sciencedaily.com/releases/2012/05/120515131317.htm Researchers have found new clues in the pathogenesis of skull and skin birth defects associated with a rare genetic disorder, Beare-Stevenson cutis gyrata syndrome (BSS). Tue, 15 May 2012 13:13:13 EDT http://www.sciencedaily.com/releases/2012/05/120515131317.htm http://www.sciencedaily.com/releases/2012/05/120514104856.htm Scientists have identified the genetic cause of a birth defect known as Hamamy syndrome. Their findings lend new insights into common ailments such as heart disease, osteoporosis, blood disorders and possibly sterility. Mon, 14 May 2012 10:48:48 EDT http://www.sciencedaily.com/releases/2012/05/120514104856.htm http://www.sciencedaily.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 12:28:28 EDT http://www.sciencedaily.com/releases/2012/05/120510122806.htm http://www.sciencedaily.com/releases/2012/05/120505130923.htm A new study has identified the risk of major birth defects associated with different types of assisted reproductive technology. In the most comprehensive study of its kind in the world, researchers compared the risk of major birth defects for each of the reproductive therapies commonly available internationally, such as: IVF (in vitro fertilization), ICSI (intracytoplasmic sperm injection) and ovulation induction. They also compared the risk of birth defects after fresh and frozen embryo transfer. Sat, 05 May 2012 13:09:09 EDT http://www.sciencedaily.com/releases/2012/05/120505130923.htm http://www.sciencedaily.com/releases/2012/04/120430190537.htm About one baby is born every hour addicted to opiate drugs in the United States, according to new research. Physicians found that diagnosis of neonatal abstinence syndrome, a drug withdrawal syndrome among newborns, almost tripled between 2000 and 2009. Mon, 30 Apr 2012 19:05:05 EDT http://www.sciencedaily.com/releases/2012/04/120430190537.htm http://www.sciencedaily.com/releases/2012/04/120417143812.htm Children with Rett Syndrome, who cannot speak or use their hands to communicate and therefore were thought to be unable to understand and process information, do in fact exhibit meaningful visual search whereby they can process and prioritize information, new research shows. This leads researchers to believe that conventional testing is not robust enough and underestimates the patients' cognitive abilities. Tue, 17 Apr 2012 14:38:38 EDT http://www.sciencedaily.com/releases/2012/04/120417143812.htm http://www.sciencedaily.com/releases/2012/04/120404161835.htm New research finds that a person’s memory declines at a faster rate in the two- and-a-half years before death than at any other time after memory problems first begin. A second study shows that keeping mentally fit through board games or reading may be the best way to preserve memory during late life. Wed, 04 Apr 2012 16:18:18 EDT http://www.sciencedaily.com/releases/2012/04/120404161835.htm http://www.sciencedaily.com/releases/2012/03/120320141946.htm Friendly to a fault, yet tense? A personality profile marked by overly gregarious yet anxious behavior is rooted in abnormal development of a circuit hub buried deep in the front center of the brain. Brain scans pinpointed the suspect brain area in people with Williams syndrome. Matching the scans to their scores on a personality rating scale revealed that the temperament traits correlated with abnormalities in the brain structure, called the insula. Tue, 20 Mar 2012 14:19:19 EDT http://www.sciencedaily.com/releases/2012/03/120320141946.htm http://www.sciencedaily.com/releases/2012/03/120308115623.htm Maternal obesity may contribute to cognitive impairment in extremely premature babies, according to a new study. Thu, 08 Mar 2012 11:56:56 EST http://www.sciencedaily.com/releases/2012/03/120308115623.htm http://www.sciencedaily.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 08:35:35 EST http://www.sciencedaily.com/releases/2012/03/120301083545.htm http://www.sciencedaily.com/releases/2012/02/120226153549.htm Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that allows prenatal diagnosis and genetic counseling in affected families. Sun, 26 Feb 2012 15:35:35 EST http://www.sciencedaily.com/releases/2012/02/120226153549.htm http://www.sciencedaily.com/releases/2012/02/120221125151.htm Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities that cause Down syndrome and a genetic disorder known as Edwards syndrome. The new approach is more scalable than other recently developed genetic screening tests and has the potential to reduce unnecessary amniocentesis or CVS. Tue, 21 Feb 2012 12:51:51 EST http://www.sciencedaily.com/releases/2012/02/120221125151.htm http://www.sciencedaily.com/releases/2012/02/120213154102.htm Scientists have pinpointed the source of a genetic disorder that causes life-threatening birth defects, which may allow doctors to quickly diagnose and better treat the disease. Mon, 13 Feb 2012 15:41:41 EST http://www.sciencedaily.com/releases/2012/02/120213154102.htm http://www.sciencedaily.com/releases/2012/02/120210133441.htm A cesarean delivery, which was thought to be harmless, is associated with breathing problems in preterm babies who are small for gestational age, a new study suggests. Fri, 10 Feb 2012 13:34:34 EST http://www.sciencedaily.com/releases/2012/02/120210133441.htm http://www.sciencedaily.com/releases/2012/02/120210133358.htm Weekday delivery is no better than night/weekend delivery for infants with birth defects, according to a new study. Researchers found that infants with birth defects that were delivered at night or over the weekend fared just as well as those delivered on a weekday -- they stayed at the hospital for the same amount of time, were admitted to the NICU at the same rate, and were given antibiotics or got help breathing just as often. Fri, 10 Feb 2012 13:33:33 EST http://www.sciencedaily.com/releases/2012/02/120210133358.htm http://www.sciencedaily.com/releases/2012/02/120210133245.htm A new study reproduced the same morphological and functional patterns of neuronal connections in a transgenic mouse as seen in people with Down’s syndrome. Regulating the activity of this protein produced very similar neuronal growth to that in a healthy mouse. Fri, 10 Feb 2012 13:32:32 EST http://www.sciencedaily.com/releases/2012/02/120210133245.htm http://www.sciencedaily.com/releases/2012/02/120209143918.htm A national, U.S. federally funded study has found that testing a developing fetus’ DNA through chromosomal microarray (CMA) provides more information about potential disorders than does the standard method of prenatal testing, which is to visually examine the chromosomes (karyotyping). Thu, 09 Feb 2012 14:39:39 EST http://www.sciencedaily.com/releases/2012/02/120209143918.htm http://www.sciencedaily.com/releases/2012/02/120202151723.htm A recent study shows that a new DNA test that identifies Down syndrome in pregnancy can also detect trisomies 18 and 13. Thu, 02 Feb 2012 15:17:17 EST http://www.sciencedaily.com/releases/2012/02/120202151723.htm http://www.sciencedaily.com/releases/2012/01/120130184532.htm Mothers-to-be who are both overweight and smoke during their pregnancy risk damaging their baby's developing heart, according to new research. Mon, 30 Jan 2012 18:45:45 EST http://www.sciencedaily.com/releases/2012/01/120130184532.htm http://www.sciencedaily.com/releases/2012/01/120126143651.htm Medical researchers reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism. Thu, 26 Jan 2012 14:36:36 EST http://www.sciencedaily.com/releases/2012/01/120126143651.htm http://www.sciencedaily.com/releases/2011/11/111117154641.htm The preterm birth rate slipped under 12 percent for the first time in nearly a decade, the fourth consecutive year it declined, potentially sparing tens of thousands of babies the serious health consequences of an early birth. The rate declined to 11.99 percent last year. Despite the improvement, too many babies, one out of every eight, was born too soon. Thu, 17 Nov 2011 15:46:46 EST http://www.sciencedaily.com/releases/2011/11/111117154641.htm http://www.sciencedaily.com/releases/2011/11/111115175807.htm Scientists are finding new tools to help understand neurodevelopmental disorders like autism and fragile X syndrome. Studies show in new detail how the brain's connections, chemicals, and genes interact to affect behavior. Tue, 15 Nov 2011 17:58:58 EST http://www.sciencedaily.com/releases/2011/11/111115175807.htm http://www.sciencedaily.com/releases/2011/11/111104091735.htm A novel study involving fruit flies and mice has allowed biologists to identify two critical genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality and death in people born with this genetic disorder. Fri, 04 Nov 2011 09:17:17 EDT http://www.sciencedaily.com/releases/2011/11/111104091735.htm http://www.sciencedaily.com/releases/2011/11/111104091654.htm A novel study involving fruit flies and mice has allowed biologists to identify two critical genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality and death in people born with this genetic disorder. Fri, 04 Nov 2011 09:16:16 EDT http://www.sciencedaily.com/releases/2011/11/111104091654.htm http://www.sciencedaily.com/releases/2011/10/111025091539.htm Brain damage due to birth asphyxia – where the brain is starved of oxygen around the time of delivery – is normally treated by cooling the infant, but this only helps one baby in nine. New research Sweden could now pave the way for new ways of treating brain damage in newborns. Tue, 25 Oct 2011 09:15:15 EDT http://www.sciencedaily.com/releases/2011/10/111025091539.htm http://www.sciencedaily.com/releases/2011/10/111020025652.htm Women with high blood pressure (hypertension) in the early stages of pregnancy are more likely to have babies with birth defects, irrespective of commonly prescribed medicines for their condition, finds new research. Thu, 20 Oct 2011 02:56:56 EDT http://www.sciencedaily.com/releases/2011/10/111020025652.htm http://www.sciencedaily.com/releases/2011/10/111017102623.htm A new DNA-based prenatal blood test that can strikingly reduce the number of risky diagnostic procedures needed to identify a pregnancy with Down syndrome is ready to be introduced into clinical practice. Mon, 17 Oct 2011 10:26:26 EDT http://www.sciencedaily.com/releases/2011/10/111017102623.htm http://www.sciencedaily.com/releases/2011/10/111017092239.htm Autism researchers have found a link between low birthweight and children diagnosed with autism, reporting premature infants are five times more likely to have autism than children born at normal weight. Mon, 17 Oct 2011 09:22:22 EDT http://www.sciencedaily.com/releases/2011/10/111017092239.htm http://www.sciencedaily.com/releases/2011/10/111013184811.htm Women with polycystic ovary syndrome are more likely to have problems with pregnancy regardless of whether they are undergoing fertility treatment, claims new research. Thu, 13 Oct 2011 18:48:48 EDT http://www.sciencedaily.com/releases/2011/10/111013184811.htm http://www.sciencedaily.com/releases/2011/10/111004121307.htm New findings from a 16-year study confirm that the Diagnostic and Statistic Manual of Mental Disorders, the gold-standard for the classification of mental health conditions, can be used to accurately identify autism spectrum disorders in children with Down syndrome, according to new research. Tue, 04 Oct 2011 12:13:13 EDT http://www.sciencedaily.com/releases/2011/10/111004121307.htm http://www.sciencedaily.com/releases/2011/09/110927073155.htm The negative effects that premature birth can have on the lungs of babies could be as severe in moderately premature babies as those born extremely prematurely but may be reversed in their teenage years, according to a new study. Tue, 27 Sep 2011 07:31:31 EDT http://www.sciencedaily.com/releases/2011/09/110927073155.htm http://www.sciencedaily.com/releases/2011/09/110907151847.htm A new study suggests that cellular dysregulation associated with certain neurodegenerative disorders may result from molecular competition in neuronal RNA transport pathways. Wed, 07 Sep 2011 15:18:18 EDT http://www.sciencedaily.com/releases/2011/09/110907151847.htm http://www.sciencedaily.com/releases/2011/09/110906121239.htm In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering their cells can't keep up with the demand for energy in their developing brains. Now, researchers have discovered a new genetic defect that can lead to the disease. Tue, 06 Sep 2011 12:12:12 EDT http://www.sciencedaily.com/releases/2011/09/110906121239.htm http://www.sciencedaily.com/releases/2011/09/110901134630.htm Individuals with an autoinflammatory syndrome experience episodes of prolonged fever and inflammation in the absence of infection. There are several different autoinflammatory syndromes identified by distinct symptoms and underlying genetic mutations. Researchers have now identified a mutation that causes Japanese autoinflammatory syndrome with lipodystrophy and determined the mechanisms by which it does so. Thu, 01 Sep 2011 13:46:46 EDT http://www.sciencedaily.com/releases/2011/09/110901134630.htm http://www.sciencedaily.com/releases/2011/08/110830082104.htm New research suggests that highly irritable children who have secure attachments to their mothers are more likely to get along well with others than those who aren't securely attached. For this study, researchers followed 84 infants from birth to age 2, along with their mostly low-income mothers. Tue, 30 Aug 2011 08:21:21 EDT http://www.sciencedaily.com/releases/2011/08/110830082104.htm http://www.sciencedaily.com/releases/2011/08/110824142850.htm A scientist investigating why those with Down syndrome often have poor motor skills has found their eye reflexes significantly altered. Wed, 24 Aug 2011 14:28:28 EDT http://www.sciencedaily.com/releases/2011/08/110824142850.htm http://www.sciencedaily.com/releases/2011/08/110819155426.htm Scientists have reported the structure of two enzyme mutations that result in congenital defects. Fri, 19 Aug 2011 15:54:54 EDT http://www.sciencedaily.com/releases/2011/08/110819155426.htm http://www.sciencedaily.com/releases/2011/08/110802091040.htm A researcher is conducting a clinical trial with a drug that may increase cognition in those with Down syndrome. Tue, 02 Aug 2011 09:10:10 EDT http://www.sciencedaily.com/releases/2011/08/110802091040.htm http://www.sciencedaily.com/releases/2011/07/110721121549.htm Researchers now have a much clearer understanding of how mutations in a single gene can produce the complex cognitive deficits characteristic of Fragile X Syndrome, the most common inherited form of intellectual disability. As the majority of patients with Fragile X Syndrome also display autism-like symptoms, the findings offer hope for treating both conditions. Thu, 21 Jul 2011 12:15:15 EDT http://www.sciencedaily.com/releases/2011/07/110721121549.htm http://www.sciencedaily.com/releases/2011/07/110720121933.htm Children and adults with social withdrawal due to Fragile X syndrome, the most common cause of inherited intellectual disability and the most common known single gene cause of autism, may benefit from an experimental drug under study by pediatric neurologists. Wed, 20 Jul 2011 12:19:19 EDT http://www.sciencedaily.com/releases/2011/07/110720121933.htm http://www.sciencedaily.com/releases/2011/07/110712102322.htm The first-ever comprehensive review of 50 years of studies has established that maternal smoking causes serious birth defects including heart defects, missing/deformed limbs, clubfoot, gastrointestinal disorders, and facial disorders, such as cleft lip/palate. Smoking during pregnancy is a risk factor for premature birth and the March of Dimes urges pregnant women and those planning a pregnancy to quit smoking to reduce their chance of having a baby born prematurely or with a serious birth defect. Tue, 12 Jul 2011 10:23:23 EDT http://www.sciencedaily.com/releases/2011/07/110712102322.htm http://www.sciencedaily.com/releases/2011/07/110711195019.htm Missing or deformed limbs, clubfoot, facial disorders and gastrointestinal problems are some of the most common birth defects found to be associated with smoking during pregnancy, according to a major new report. Mon, 11 Jul 2011 19:50:50 EDT http://www.sciencedaily.com/releases/2011/07/110711195019.htm http://www.sciencedaily.com/releases/2011/07/110705184221.htm Two studies from France and Denmark have shown that children born after frozen embryo transfer are larger and heavier. The risk for a baby to be too heavy for its gestational age at birth is increased 1.6 fold compared to IVF children from fresh embryo transfer and 1.5 fold compared to naturally conceived children, researchers say. Tue, 05 Jul 2011 18:42:42 EDT http://www.sciencedaily.com/releases/2011/07/110705184221.htm http://www.sciencedaily.com/releases/2011/06/110624080344.htm Prader-Willi syndrome is a rare genetic disorder which affects one child in 25,000. Children born with this syndrome have a range of complex neurological and developmental problems which continue into adult life. New research demonstrates that the hormone oxytocin is able to positively affect patients by improving trust, mood, and reducing disruptive behavior. Fri, 24 Jun 2011 08:03:03 EDT http://www.sciencedaily.com/releases/2011/06/110624080344.htm http://www.sciencedaily.com/releases/2011/06/110623090001.htm Birth defects are significantly more common in areas of mountaintop coal mining and are on the rise as the practice becomes more common, according to a new study. Thu, 23 Jun 2011 09:00:00 EDT http://www.sciencedaily.com/releases/2011/06/110623090001.htm http://www.sciencedaily.com/releases/2011/06/110608122546.htm A research team has solved a 25-year mystery that may lead to better treatments for people with learning deficits and mental retardation. Synaptophysin is the first protein and most abundant ever found on the membranes surrounding the tiny sacs that carry chemical messengers to synapses, the gaps where communication between nerve cells occurs. But even though the loss of synaptophysin has recently been linked to learning deficits and mental retardation, scientists have been unable for more than a quarter-century to explain what it actually does. Now researchers have shown that synaptophysin controls the replacement of the constantly needed sacs, also known as vesicles. Wed, 08 Jun 2011 12:25:25 EDT http://www.sciencedaily.com/releases/2011/06/110608122546.htm http://www.sciencedaily.com/releases/2011/05/110530080407.htm Dutch researchers have developed a test which predicts which mothers at risk of passing on mitochondrial genetic disease to their children are likely to have a healthy baby. Mon, 30 May 2011 08:04:04 EDT http://www.sciencedaily.com/releases/2011/05/110530080407.htm http://www.sciencedaily.com/releases/2011/05/110526064757.htm Patients with Sjogren's syndrome, a systemic immune disease which affects the production of tears and saliva, reported worse mental well-being and more difficulty in identifying feelings than the healthy population, according to new research. Thu, 26 May 2011 06:47:47 EDT http://www.sciencedaily.com/releases/2011/05/110526064757.htm http://www.sciencedaily.com/releases/2011/05/110517162026.htm Use of newer-generation antiepileptic drugs, which are also prescribed for bipolar mood disorders and migraine headaches, during the first trimester of pregnancy was not associated with an increased risk of major birth defects in the first year of life among infants in Denmark, according to a new study. Older-generation antiepileptic drugs are associated with an increased risk of birth defects. Tue, 17 May 2011 16:20:20 EDT http://www.sciencedaily.com/releases/2011/05/110517162026.htm http://www.sciencedaily.com/releases/2011/05/110517132634.htm Advancements over the last 10 years in understanding intellectual disability have led to the once-unimaginable possibility that the condition may be treatable, a review of more than 100 studies on the topic has concluded. Tue, 17 May 2011 13:26:26 EDT http://www.sciencedaily.com/releases/2011/05/110517132634.htm http://www.sciencedaily.com/releases/2011/05/110516121732.htm Childhood physical abuse is associated with significantly elevated rates of functional somatic syndromes such as chronic fatigue syndrome, fibromyalgia and multiple chemical sensitivities among women, according to new findings. Mon, 16 May 2011 12:17:17 EDT http://www.sciencedaily.com/releases/2011/05/110516121732.htm http://www.sciencedaily.com/releases/2011/05/110512132422.htm A new study has found a gene connected with a type of intellectual disability called Joubert syndrome. Scientists have identified this gene that, when defective, leads to Joubert syndrome. Thu, 12 May 2011 13:24:24 EDT http://www.sciencedaily.com/releases/2011/05/110512132422.htm http://www.sciencedaily.com/releases/2011/05/110512132418.htm Scientists have for the first time uncovered a gene responsible for Adams-Oliver syndrome (AOS), a condition which can cause birth defects of the heart, limbs or blood vessels. The study gives valuable insight not only into this particular condition, but also the possible genetic causes of these common birth defects found in the wider population. Thu, 12 May 2011 13:24:24 EDT http://www.sciencedaily.com/releases/2011/05/110512132418.htm http://www.sciencedaily.com/releases/2011/05/110503181018.htm Pregnancy via egg donation for women with Turner’s syndrome is potentially risky, both for the mother and the child, according to a multi-center study. Tue, 03 May 2011 18:10:10 EDT http://www.sciencedaily.com/releases/2011/05/110503181018.htm http://www.sciencedaily.com/releases/2011/04/110429104538.htm A gene known to be important in cardiac development has been newly associated with congenital heart malformations that result in obstruction of the left ventricular outflow tract. Fri, 29 Apr 2011 10:45:45 EDT http://www.sciencedaily.com/releases/2011/04/110429104538.htm http://www.sciencedaily.com/releases/2011/04/110418083247.htm Non-Hispanic black infants born with heart defects are more likely to die within the first five years of life than their non-Hispanic white and Hispanic peers, a new study finds. The findings suggest preventive strategies are needed to reduce racial and ethnic disparities among infants and young children with heart defects. Mon, 18 Apr 2011 08:32:32 EDT http://www.sciencedaily.com/releases/2011/04/110418083247.htm http://www.sciencedaily.com/releases/2011/04/110412171202.htm Individuals with fragile X syndrome, the most common inherited form of intellectual disability, often develop epilepsy, but so far the underlying causes are unknown. Researchers have now discovered a potential mechanism that may contribute to the link between epilepsy and fragile X syndrome. Tue, 12 Apr 2011 17:12:12 EDT http://www.sciencedaily.com/releases/2011/04/110412171202.htm http://www.sciencedaily.com/releases/2011/04/110410194711.htm Drinking alcohol during pregnancy is associated with an increased risk of miscarriage, premature birth, and low birth weight. But there are conflicting reports about how much alcohol, if any, it is safe for a pregnant woman to drink. New research looked at the amounts of alcohol women drank during their early pregnancy and showed the effect this had on their babies. Sun, 10 Apr 2011 19:47:47 EDT http://www.sciencedaily.com/releases/2011/04/110410194711.htm http://www.sciencedaily.com/releases/2011/04/110406102129.htm A new study has found that progesterone, a naturally occurring hormone, reduced the rate of preterm birth before the 33rd week of pregnancy by 45 percent among one category of at-risk women. The women in the study had a short cervix, which is known to increase the risk for preterm birth. The cervix is the part of the uterus that opens and shortens during labor. Wed, 06 Apr 2011 10:21:21 EDT http://www.sciencedaily.com/releases/2011/04/110406102129.htm