http://www.medindia.net/healthnews/down-syndrome-news.asp Medindia largest health website in india. en-us Copyright 2012. All Rights Reserved. Fri, 25 May 2012 05:29:16 GMT http://www.medindia.net/news/scientists-identify-mutation-behind-rare-genetic-disorder-101454-1.htm The genetic cause of a birth defect known as Hamamy syndrome has been identified by scientists. The discovery made by scientists at A*STAR's Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and USA, gives new insights into common ailments such as heart disease, osteoporosis, blood disorders and possibly sterility. Hamamy syndrome is a rare genetic disorder, which is marked by abnormal facial features (Annex A) and defects in the heart, bone, blood and reproductive cells....]]> http://www.medindia.net/news/scientists-identify-mutation-behind-rare-genetic-disorder-101454-1.htm http://www.medindia.net/news/rare-genetic-disorder-that-turns-organs-into-crystals-100036-1.htm A distressed couple in Leeds has revealed that both of their children are suffering from a rare genetic disorder that slowly turns their organs into crystals. Jessica Kemp revealed that her daughters, Emily, 3, and Poppy-Mae, 2, have been diagnosed with cystinosis, a rare genetic disorder that affects just one in 3.5 million. Cystinosis is an incurable condition with just 2,000 patients in the world and as it is a genetic disease, there is a one in four chance that Ms Kemp's children may suffer from the disease....]]> http://www.medindia.net/news/rare-genetic-disorder-that-turns-organs-into-crystals-100036-1.htm http://www.medindia.net/news/down-syndrome-kids-confront-facial-features-stereotyping-99861-1.htm Down syndrome kids` photographs evoke less positive attitudes than photographs of usually developing children do, reports new research published on Apr. 4 in the open access journal iPLoS ONE/i.This effect was strongest for photographs of children with features that are "strongly typical" of Down syndrome, and somewhat weaker for images that were more "weakly typical." Although photographs of children with Down syndrome are typically viewed as more positive ("friendly" and "affectionate") ...]]> http://www.medindia.net/news/down-syndrome-kids-confront-facial-features-stereotyping-99861-1.htm http://www.medindia.net/news/on-world-down-syndrome-day-experts-say-patients-need-early-intervention-99129-1.htm Down Syndrome (DS) remains an incurable condition but experts believe that acceptance by the family and early intervention can go a long way in ensuring that a person with DS lives a normal life and is socially independent. Worldwide, March 21 is celebrated as the World Down Syndrome Day. DS is a genetic condition that affects 1 out of 800 people and is universally present across racial, gender or socio-economic lines, according to Down Syndrome International, a UK-based organisation for creating awareness about DS....]]> http://www.medindia.net/news/on-world-down-syndrome-day-experts-say-patients-need-early-intervention-99129-1.htm http://www.medindia.net/news/the-cognitive-dysfunction-of-down-syndrome-and-alzheimers-disease-cognizance-and-treatment-98376-1.htm The most common genetic disorder in live born children occurring as an outcome of a chromosomal abnormality is Down syndrome (DS).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. It is not currently possible to effectively treat the cognitive impairments associated with DS....]]> http://www.medindia.net/news/the-cognitive-dysfunction-of-down-syndrome-and-alzheimers-disease-cognizance-and-treatment-98376-1.htm http://www.medindia.net/news/demystified-why-children-with-down-syndrome-have-increased-risk-of-leukemia-97947-1.htm Previous research has shown that children with Down syndrome (DS) have an increased risk of developing leukemia. This is particularly true for acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL). Through their studies in a mouse model of DS, a team of researchers led by John Crispino, at Northwestern University, Chicago, has now identified a potential explanation as to why children with DS are at increased risk of AMKL. In doing so, they have also identified a candidate therapeutic target....]]> http://www.medindia.net/news/demystified-why-children-with-down-syndrome-have-increased-risk-of-leukemia-97947-1.htm http://www.medindia.net/news/new-method-to-detect-risk-of-down-syndrome-97834-1.htm A novel algorithm developed by scientists helps detect those at risk of Down syndrome. Two studies evaluating this approach are available online in advance of publication in the April issue of the IAmerican Journal of Obstetrics (and) Gynecology/I (AJOG). Diagnosis of fetal chromosomal abnormalities, or aneuploidies, relies on invasive testing by chorionic villous sampling or amniocentesis in pregnancies identified as high-risk. Although accurate, the tests are expensive and carry a risk of miscarriage....]]> http://www.medindia.net/news/new-method-to-detect-risk-of-down-syndrome-97834-1.htm http://www.medindia.net/news/organ-injuring-in-inflammatory-genetic-disorder-arrested-by-rheumatoid-arthritis-drug-97424-1.htm Kineret (anakinra), an approved medication to treat rheumatoid arthritis, successfully bars progression of organ damage in people with neonatal-onset multisystem inflammatory disease (NOMID), reveals a new study. This rare and debilitating genetic disorder causes persistent inflammation and ongoing tissue damage. NOMID affects numerous organs and body systems, including the skin, joints, eyes, and central nervous system. The first sign of the disease is often a rash that develops within the first weeks of life....]]> http://www.medindia.net/news/organ-injuring-in-inflammatory-genetic-disorder-arrested-by-rheumatoid-arthritis-drug-97424-1.htm http://www.medindia.net/news/Cure-For-Sugar-Related-Congenital-Disorder-95251-1.htm German researchers have found in mannose, a natural sugar, a possible way of forestalling CDG-IA, an inherited metabolic disorder that impairs the production of glycoproteins. CDG-IA, related to a defect in an enzyme called phosphomannomutase, affects many systems of the body, notably the nervous system. The disease causes developmental delay that can lead to mental disability. It can also cause seizures and stroke-like episodes. It impairs both the ability to move physically and the ability coordinate that movement....]]> http://www.medindia.net/news/Cure-For-Sugar-Related-Congenital-Disorder-95251-1.htm http://www.medindia.net/news/Genes-Behind-Heart-Defect-In-Down-Syndrome-Identified-92972-1.htm Scientists have identified two genes behind heart defect in people suffering from the Down syndrome. The genes, when produced at elevated levels, work together to disrupt cardiac development and function, the study shows. Down syndrome occurs when individuals have three, instead of the usual two, copies of human chromosome 21. "Chromosome 21 is the shortest human chromosome and intensive genetic mapping studies in people with Down syndrome have identified a small region of this chromosome that plays ...]]> http://www.medindia.net/news/Genes-Behind-Heart-Defect-In-Down-Syndrome-Identified-92972-1.htm http://www.medindia.net/news/Synaptic-Plasticity-in-Hippocampus-Mediated-By-X-Linked-Mental-Retardation-Protein-92386-1.htm A small part of the puzzle regarding synapses the tiny gaps across which nerve cells in the brain communicate - has been solved by scientists at Cold Spring Harbor Laboratory (CSHL). They now know the relationship between changes in the strength of synapses and dysfunctions in neural circuits that have been linked with drug addiction, mental retardation and other cognitive disorders. A team led by CSHL Professor Linda Van Aelst has pieced together essential steps in a signaling cascade within ...]]> http://www.medindia.net/news/Synaptic-Plasticity-in-Hippocampus-Mediated-By-X-Linked-Mental-Retardation-Protein-92386-1.htm http://www.medindia.net/news/Down-Syndrome-Risk-in-Offspring-Increased-by-Toxic-Chemical-in-Plastic-91049-1.htm Pregnant women who are exposed to Bisphenol A (BPA) are at a high risk of having a baby with genetic disorders like Down Syndrome, says a new study. Researchers at Universitat Autonoma de Barcelona, in collaboration with the Vall d'Hebron Hospital Fetal Tissue Bank, the Department of Gynaecology and the Research Unit of Paediatric Endocrinology, found that BPA can alter the development of oocytes and future ova, possibly diminishing the fertility of a woman's offspring and increasing the risk of Down Syndrome....]]> http://www.medindia.net/news/Down-Syndrome-Risk-in-Offspring-Increased-by-Toxic-Chemical-in-Plastic-91049-1.htm http://www.medindia.net/news/Girl-Has-2-Toes-Removed-to-Treat-Congenital-Disorder-90634-1.htm ...]]> http://www.medindia.net/news/Girl-Has-2-Toes-Removed-to-Treat-Congenital-Disorder-90634-1.htm http://www.medindia.net/news/Down-Syndrome-New-Finding-89626-1.htm In patients with Down syndrome, important eye reflexes are substantially altered, says researcher. The findings by University of Colorado School of Medicine researcher Alberto Costa, MD, Ph.D., could lead to new tools to assess the effectiveness of new drugs and therapies aimed at improving quality of life for those with this genetic disorder. "People with Down syndrome suffer various degrees of motor difficulty," said Costa, whose study was published last week in the journal, IExperimental Brain Research/I....]]> http://www.medindia.net/news/Down-Syndrome-New-Finding-89626-1.htm http://www.medindia.net/news/Alzheimer-Drug-In-Down-Syndrome-Treatment-88597-1.htm Memantine, a drug currently used in treatment of the Alzheimers disease, could boost cognitive function in those afflicted by the Down syndrome, it looks like. A University of Colorado School of Medicine scientist is completing a major clinical trial on the drug. We are hoping to enhance memory and learning in those with Down syndrome, said Alberto Costa, MD, PhD, an associate professor of medicine and the neuroscientist leading the effort. We have been studying this drug for three years ...]]> http://www.medindia.net/news/Alzheimer-Drug-In-Down-Syndrome-Treatment-88597-1.htm http://www.medindia.net/news/Parkinsons-Disease-Research-Advances-From-Rare-Genetic-Disorder-87018-1.htm Massachusetts General Hospital investigators appear to have found the mechanism behind a previously reported link between the rare genetic condition Gaucher disease and the common neurodegenerative disorder Parkinson's disease. In a report to appear in the July 8 issue oIf Cell/I and receiving early online release, they describe how disruption of the molecular pathway that causes Gaucher disease leads to the toxic neuronal deposits of the protein alpha-synuclein ( (and) #945;-syn) found in Parkinson's and related disorders....]]> http://www.medindia.net/news/Parkinsons-Disease-Research-Advances-From-Rare-Genetic-Disorder-87018-1.htm http://www.medindia.net/news/Patterns-of-Plaques-and-Tangles-in-Adults-With-Down-Syndrome-Identified-by-Brain-Scan-86379-1.htm A unique brain scan was used by UCLA researchers to assess the levels of amyloid plaques and neurofibrillary tangles - the hallmarks of Alzheimer's disease - in adults with Down syndrome. Published in the June edition of the iArchives of Neurology/i, the finding may offer an additional clinical tool to help diagnose dementia in adults with Down syndrome, a genetic disorder caused by the presence of a complete or partial extra copy of chromosome 21. Adults with this disorder develop ...]]> http://www.medindia.net/news/Patterns-of-Plaques-and-Tangles-in-Adults-With-Down-Syndrome-Identified-by-Brain-Scan-86379-1.htm http://www.medindia.net/news/Same-Targets-To-Block-Cancer-And-Combat-Down-Syndrome-84196-1.htm Dana-Farber Cancer Institute scientists believe they have identified targets that could be useful in both cancer treatment and tackling the Down syndrome. The life of a cell is defined by phases in which it grows, creates a duplicate set of chromosomes, and divides into two daughter cells all governed by external signals such as growth-stimulating factors and internal checkpoints. Cells can also exit the growth cycle in two ways becoming quiescent or inactive (which most of our cells are ...]]> http://www.medindia.net/news/Same-Targets-To-Block-Cancer-And-Combat-Down-Syndrome-84196-1.htm http://www.medindia.net/news/Boffins-Uncover-Link-Between-Down-Syndrome-and-Alzheimers-Disease-79476-1.htm Researchers have discovered that the genetic mechanism which destroys brain cells is responsible for early development of Alzheimer's Disease in people with Down Syndrome and for development of Alzheimer's Disease in general population. This discovery by researchers at the University of British Columbia and Vancouver Coastal Health Research Institute provides a potential new target for drugs that could forestall dementia in people with either condition. The research, led by Dr....]]> http://www.medindia.net/news/Boffins-Uncover-Link-Between-Down-Syndrome-and-Alzheimers-Disease-79476-1.htm http://www.medindia.net/news/Research-Supports-Newborn-Screening-and-Early-Treatment-for-Rare-Genetic-Disorder-77528-1.htm In a study that supports the need for newborn screening and early treatment for a rare genetic disorder, researchers at Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed) and Iowa State University found enzyme replacement therapy beginning at birth eliminated almost all of the symptoms associated with mucopolysaccharidosis type I, or MPS I, in animal models. The study, which was published today in the journal, IScience Translational Medicine,/I is the first ...]]> http://www.medindia.net/news/Research-Supports-Newborn-Screening-and-Early-Treatment-for-Rare-Genetic-Disorder-77528-1.htm http://www.medindia.net/news/Grand-Sports-Carnival-for-People-With-Down-Syndrome-Raises-Community-Awareness-74607-1.htm Are you smart enough to recognise a hero when you see one? Throughout history people have waged brutal wars, built edifices of great magnitude, sacrificed lives over ideologies, and converted pleasurable activities into mind numbing rat races, with the sole intention of projecting themselves as heroes. However amidst man's hazy pursuit, the real heroes have been smiling and patiently waiting to shout out and rejoice on occasions such as the Grand Sports Carnival for Intellectually Disabled ...]]> http://www.medindia.net/news/Grand-Sports-Carnival-for-People-With-Down-Syndrome-Raises-Community-Awareness-74607-1.htm http://www.medindia.net/news/Australian-Hospitals-Sued-For-Failure-To-Diagnose-Down-Syndrome-71607-1.htm Twohospitalsin the Australian state of Victoria are being sued for their failure to diagnose Down Syndrome when testing two pregnant women.Had it been rightly detected, they would have had a chance to terminate their pregnancies, the couples say and are claiming damages for economic loss, continuing costs of care of the children, and "psychiatric injury." In one case, the parents said an early indication of Down Syndrome was detected by ultrasound in the first trimester and a further test was ...]]> http://www.medindia.net/news/Australian-Hospitals-Sued-For-Failure-To-Diagnose-Down-Syndrome-71607-1.htm http://www.medindia.net/news/Critical-Genes-for-Down-Syndrome-Identified-71555-1.htm Critical genes responsible for some aspects of Down syndrome, a well known cause of mental retardation and diseases like Alzheimer's, have been identified by scientists. A team of scientists from the Uniformed Services University of the Health Sciences (USU) and Children's National Medical Center (CNMC), led by Zygmunt Galdzicki, associate professor of Anatomy, Physiology and Genetics, USU, and Tarik F. Haydar, CNMC, now associate professor, Department of Anatomy and Neurobiology, Boston University ...]]> http://www.medindia.net/news/Critical-Genes-for-Down-Syndrome-Identified-71555-1.htm http://www.medindia.net/news/Genetic-Disorder-How-It-Causes-Skin-Cancers-70488-1.htm People with an inherited genetic disorder - xeroderma pigmentosum (XPV)which makes them very sensitive to sunlight, have an enzyme missing and this makes them more prone to get skin cancers. The findings by researchers from Mount Sinai School of Medicine, paves way towards therapies that would help protect people with XPV from developing skin cancers. The research team determined that, in the general population, DNA polymerase eta, an enzyme able to overcome the barriers created by sun damage ...]]> http://www.medindia.net/news/Genetic-Disorder-How-It-Causes-Skin-Cancers-70488-1.htm http://www.medindia.net/news/Dramatic-Improvements-for-People-With-Down-Syndrome-Possible-Via-Key-Nutrient-in-Maternal-Diet-69747-1.htm Research says that a nutrient found in egg yolks, liver and cauliflower taken by mothers during pregnancy and nursing may offer lifelong "dramatic" health benefits to people with Down syndrome. A new study done at Cornell University and published June 2 in the peer-reviewed journal IBehavioral Neuroscience/I found that more choline during pregnancy and nursing could provide lasting cognitive and emotional benefits to people with Down syndrome. The work indicated greater maternal levels of ...]]> http://www.medindia.net/news/Dramatic-Improvements-for-People-With-Down-Syndrome-Possible-Via-Key-Nutrient-in-Maternal-Diet-69747-1.htm http://www.medindia.net/news/Researchers-Link-Alzheimers-Down-Syndrome-With-Protein-Plaques-69189-1.htm Linking Alzheimer's and Down Syndrome, scientists have found that the same protein that forms plaques in the brain in Alzheimer's disease also accumulates in the eyes of people with Down syndrome. The new findings in Down syndrome show that the toxic protein, known as amyloid-, that causes Alzheimer's pathology in the brain also leads to distinctive cataracts in the eyes. The discovery is leading the researchers to develop an innovative eye test for early detection of Alzheimer's pathology in both disorders....]]> http://www.medindia.net/news/Researchers-Link-Alzheimers-Down-Syndrome-With-Protein-Plaques-69189-1.htm http://www.medindia.net/news/Scientists-Find-Key-Player-for-a-Cancer-Typical-in-Down-Syndrome-65783-1.htm It is well-known that between 5 and 10 percent of babies with Down syndrome develop a transient form of leukemia that usually resolves on its own. However, for reasons that haven't been clear, 20 to 30 percent of these babies progress to a more serious leukemia known as Down syndrome acute megakaryoblastic leukemia (DS-AMKL), which affects the blood progenitor cells that form red blood cells and platelets. Now, researchers at Children's Hospital Boston have found a gene regulator they believe ...]]> http://www.medindia.net/news/Scientists-Find-Key-Player-for-a-Cancer-Typical-in-Down-Syndrome-65783-1.htm http://www.medindia.net/news/Down-Syndrome-Voice-Actress-Lashes-Back-At-Sympathy-Seeking-Sarah-Palin-65378-1.htm Continuing the controversy about the animated sitcom remark on Down Syndrome, voice actor Andrea Fay Friedman (who suffers Down Syndrome) has fired back at Sarah Palin by saying the former Alaskan governor needs to chill out. Friedman, 39, made the comment after Palin and her daughter, Bristol, lashed out at the show, which aired last Sunday, about a character with Down syndrome with whom another character becomes enamoured. "I guess former Governor Palin does not have a sense ...]]> http://www.medindia.net/news/Down-Syndrome-Voice-Actress-Lashes-Back-At-Sympathy-Seeking-Sarah-Palin-65378-1.htm http://www.medindia.net/news/Palins-Down-Syndrome-Son-Mocked-in-US-Animated-Sitcom-65083-1.htm Former Alaskan governor Sarah Palin's son's Down syndrome has reportedly become the butt of a joke on Fox's animated television sitcom 'Family Guy'. The episode, shown on February 14, showed one of the show's characters as dating a woman who apparently suffers from Down syndrome. The woman makes comparisons to Palin's 22-month-old son, Trig. "My dad's an accountant, and my mom's the former governor of Alaska," the New York Daily News quoted the mentally disabled character as saying, without mentioning any names....]]> http://www.medindia.net/news/Palins-Down-Syndrome-Son-Mocked-in-US-Animated-Sitcom-65083-1.htm http://www.medindia.net/news/Tests-for-Down-Syndrome-are-Now-Safer-64825-1.htm Safer tests to detect the presence of Down syndrome in the fetus during pregnancy are now available after health services in New Zealand started a new screening program. Women who visit a midwife or a doctor during their pregnancy will be offered this blood test, which is free. They will also be asked to undergo an ultrasound, which costs (Dollor) 30 to (Dollor) 40. The new test will be offered because older tests were found to compromise normal pregnancies as well. Peter Stone, the professor of maternal fetal ...]]> http://www.medindia.net/news/Tests-for-Down-Syndrome-are-Now-Safer-64825-1.htm http://www.medindia.net/news/Vital-Clues-to-Cause-of-Mental-Retardation-Found-New-Study-63825-1.htm Rockefeller University researchers suggest that developing neurons don't just need the right genes to guide them as they grow, they need access to the right genes at the right times. A new study conducted on mice has shed light on the cause of mental retardation. The improper functioning of one specific protein complex that normally suppresses gene activation has been found to be responsible for a mental retardation-like syndrome in mice. It may even play a role in promoting susceptibility to drug addiction in humans....]]> http://www.medindia.net/news/Vital-Clues-to-Cause-of-Mental-Retardation-Found-New-Study-63825-1.htm http://www.medindia.net/news/Noninvasive-Down-Syndrome-Tests-Enhanced-by-Ultrasound-61279-1.htm A Baylor College of Medicine researcher who was lead author of a landmark study in the current issue of IObstetrics and Gynecology/I has said that the addition of a "genetic sonogram" maximizes the accuracy of non-invasive testing for Down syndrome. "We wanted to be able to definitively describe the detection and accuracy of noninvasive prenatal screening for the detection of Down syndrome," said Dr. Kjersti Aagaard, assistant professor of obstetrics and gynecology at BCM and the corresponding author of the report....]]> http://www.medindia.net/news/Noninvasive-Down-Syndrome-Tests-Enhanced-by-Ultrasound-61279-1.htm http://www.medindia.net/news/Mouse-Study-may-Help-Devise-New-Down-Syndrome-Treatment-61216-1.htm A fresh new approach of slowing down cognitive dysfunction that takes place in Down syndrome has been suggested in a new study. Down's syndrome is caused by the presence of all or part of an extra 21st chromosome and significantly reduces contextual learning and memory. People affected by Down's syndrome have a below average cognitive ability, and those who reach middle age show start showing Alzheimer's-like dementia by the time they are 50 or 60. William C. Mobley, chair of the Department ...]]> http://www.medindia.net/news/Mouse-Study-may-Help-Devise-New-Down-Syndrome-Treatment-61216-1.htm http://www.medindia.net/news/Study-Finds-Boosting-Neurotransmitter-Could-Reverse-Down-Syndrome-61107-1.htm Boosting a neurotransmitter called norepinephrine in Down Syndrome sufferers could help reverse the condition, which is the most common cause of mental retardation in children, a study showed Wednesday. "If you intervene early enough, you will be able to help kids with Down Syndrome to collect and modulate information," said Ahmad Salehi, the lead author of the study, which was published in Science Translational Medicine. "Theoretically, that could lead to an improvement in cognitive functions in these kids," he said....]]> http://www.medindia.net/news/Study-Finds-Boosting-Neurotransmitter-Could-Reverse-Down-Syndrome-61107-1.htm http://www.medindia.net/news/Scientists-Identify-New-Chromosomal-Abnormality-in-Leukemia-Associated-With-Down-Syndrome-59671-1.htm A new chromosomal abnormality in acute lymphoblastic leukemia (ALL) that appears to work in concert with another mutation to give rise to cancer has been identified by scientists. They revealed that the latest anomaly is particularly common in children with Down syndrome. The findings have already resulted in new diagnostic tests and potential tools for tracking a patient's response to treatment. The research, led by scientists from St. Jude Children's Research Hospital, also highlights a new potential ALL treatment....]]> http://www.medindia.net/news/Scientists-Identify-New-Chromosomal-Abnormality-in-Leukemia-Associated-With-Down-Syndrome-59671-1.htm http://www.medindia.net/news/Recommendations-Offer-Advice-on-Prenatal-Down-Syndrome-Diagnosis-58762-1.htm Research published in the IAmerican Journal of Medical Genetics/I says that telling an expectant couple that their child will be born with Down syndrome is a tough task and that very few doctors are actually trained to deliver such news. The study, which reviewed decades of surveys and interviews, offers several recommendations for how physicians can best deliver the news. A 29-member research team, led by Dr. Brian Skotko from Children's Hospital Boston, supported by the National ...]]> http://www.medindia.net/news/Recommendations-Offer-Advice-on-Prenatal-Down-Syndrome-Diagnosis-58762-1.htm http://www.medindia.net/news/New-Hope-for-Rare-Genetic-Disorder-Correction-in-Children-through-Stem-Cell-Transplantation-58200-1.htm Scripps Research Institute scientists have offered new hope for parents whose children suffer from the rare genetic disorder 'cystinosis' by showing through an experiment on mice that stem cell transplantation can successfully correct the defect. "After meeting the children who suffer from this disease, like an 18-year-old who has already had three kidney transplants, and the families who are desperately searching for help, our team is committed to moving toward ...]]> http://www.medindia.net/news/New-Hope-for-Rare-Genetic-Disorder-Correction-in-Children-through-Stem-Cell-Transplantation-58200-1.htm http://www.medindia.net/news/Scientists-Identify-Critical-Gene-for-Brain-Development-Mental-Retardation-57651-1.htm A brain protein, called srGAP2, plays a vital role in brain development and could even lead to mental retardation, according to researchers at the University of North Carolina at Chapel Hill School of Medicine. Any flaw while establishing the neural circuitry of the developing brain could result in neurodevelopmental disorders such as mental retardation, dyslexia or autism. Researchers have now discovered that establishing the neural wiring necessary to function normally depends on the ability ...]]> http://www.medindia.net/news/Scientists-Identify-Critical-Gene-for-Brain-Development-Mental-Retardation-57651-1.htm http://www.medindia.net/news/Many-Adults-With-Down-Syndrome-also-Suffer-Obstructive-Sleep-Apnea-56469-1.htm A study has revealed that the chances of suffering from obstructive aleep apnea is high among adults with Down syndrome. However, complications of untreated OSA-such as cardiovascular disease, daytime sleepiness and impaired cognitive functioning-overlap with the manifestations of Down syndrome, which does not allow detection of OSA. The results revealed that 94 percent of subjects with Down syndrome had OSA, 88 percent had at least moderate OSA with an apnea-hypopnea index ...]]> http://www.medindia.net/news/Many-Adults-With-Down-Syndrome-also-Suffer-Obstructive-Sleep-Apnea-56469-1.htm http://www.medindia.net/news/Patterns-of-Genetic-Changes-in-Mental-Retardation-Uncovered-53613-1.htm Some of the central characteristics of genes underlying mental retardation have been uncovered by researchers at Radboud University Medical Centre and UK Medical Research Council scientists at Oxford University. The research, which shortens the list of genes whose changes lead to this disorder from thousands to several dozen, is published June 26 in the open-access journal IPLoS Genetics/I. Mental retardation, which affects approximately two percent of the population, is often caused by ...]]> http://www.medindia.net/news/Patterns-of-Genetic-Changes-in-Mental-Retardation-Uncovered-53613-1.htm http://www.medindia.net/news/A-Special-Day-With-Down-Syndrome-53586-1.htm Time spent at the day care centre of the BDown's Syndrome Association of India/B(Tamil Nadu chapter) can be Ba lesson in humility and gratitude/B. BRBRThe centre, headed by Dr. Rekha Ramachandran and serviced by about ten staff members, helps children with Down Syndrome (DS) through their daily activities. Their day is planned taking into consideration the abilities and challenges of children with DS. Parents drop off their wards here in the mornings and, after a day filled with fun ...]]> http://www.medindia.net/news/A-Special-Day-With-Down-Syndrome-53586-1.htm http://www.medindia.net/news/X-Syndromes-Mental-Retardation-Assessed-53568-1.htm A novel technique to measure intellectual disability in patients with fragile X syndrome has been devised at the University of California, Davis. Fragile X syndrome is the most common form of inherited intellectual impairment. Nearly one third of patients diagnosed with fragile X syndrome also have some degree of autism, and the mutation underlying fragile X syndrome is the most commonly known single gene cause of autism. The research team claim to have developed specific and quantitative ...]]> http://www.medindia.net/news/X-Syndromes-Mental-Retardation-Assessed-53568-1.htm http://www.medindia.net/news/Caring-for-Children-With-Down-Syndrome-Myths-Debunked-52746-1.htm Medindia spoke to BDr. Rekha Ramachandran, President of the Down Syndrome Association of India/B (Tamil Nadu chapter) who has spearheaded the need to understand, support and improve the quality of life of children with Down syndrome.BRBRBDr. Rekha Ramachandran/B has relentlessly worked to raise public awareness on BDown syndrome/B which is not a disease but a genetic disorder that happens when the baby gets three copies of chromosome 21, (BTrisomy 21/B) instead of the usual two....]]> http://www.medindia.net/news/Caring-for-Children-With-Down-Syndrome-Myths-Debunked-52746-1.htm http://www.medindia.net/news/Down-Syndrome-Patients-May-Have-High-Level-of-Cancer-Protective-Genes-51728-1.htm The mechanism behind why people with Down syndrome are less likely to develop cancer has been unraveled by a new study. The research team from Children's Hospital Boston has showed that since the patients have an extra copy of chromosome 21, it appears that people with Down syndrome may be getting an extra dose of one or more cancer-protective genes. Lead researcher Dr Sandra Ryeom discovered that a single extra copy of Dscr1 is capable to suppress angiogenesis, the development of blood ...]]> http://www.medindia.net/news/Down-Syndrome-Patients-May-Have-High-Level-of-Cancer-Protective-Genes-51728-1.htm http://www.medindia.net/news/DNA-Patterns-Of-Cancer-Genetic-Disorders-Made-Clearer-With-New-Tool-Than-With-Computers-51698-1.htm A new tool, developed at the North Carolina State University, will help researchers identify the minute changes in DNA patterns that lead to cancer, Huntington's disease and a host of other genetic disorders. The tool can translate DNA sequences into graphic images, which allows researchers to distinguish genetic patterns more quickly and efficiently than was historically possible using computers. David Cox, a Ph.D. student in computer science at NC State, devised the "symbolic scatter plot" ...]]> http://www.medindia.net/news/DNA-Patterns-Of-Cancer-Genetic-Disorders-Made-Clearer-With-New-Tool-Than-With-Computers-51698-1.htm http://www.medindia.net/news/Why-Do-People-With-Down-Syndrome-Have-Less-Cancer-51668-1.htm Most cancers are rare in people with Down syndrome, whose overall cancer mortality is below 10 percent of that in the general population. Since they have an extra copy of chromosome 21, it's been proposed that people with Down syndrome may be getting an extra dose of one or more cancer-protective genes. The late cancer researcher Judah Folkman, MD, founder of the Vascular Biology Program at Children's Hospital Boston, popularized the notion that they might be benefiting from a gene that blocks ...]]> http://www.medindia.net/news/Why-Do-People-With-Down-Syndrome-Have-Less-Cancer-51668-1.htm http://www.medindia.net/news/syndrome-connecting-seizures-deafness-mental-retardation-and-blood-pressure-identified-48798-1.htm Could seizures, developmental delay, a lack of coordination, and hearing loss be possibly connected? Yes, say Yale researchers, who have found the common thread running through these health conditions - which has been identified as a previously undescribed syndrome. The researchers have revealed that they made this advance while investigating the genetic causes of blood pressure variation. They say that their findings illustrate the power of genetic studies not only to find causes of chronic ...]]> http://www.medindia.net/news/syndrome-connecting-seizures-deafness-mental-retardation-and-blood-pressure-identified-48798-1.htm http://www.medindia.net/news/Left-Handedness-In-Children-Maybe-Linked-To-Congenital-Disorder-48266-1.htm According to a new study, kids with a congenital disorder, known as hemifacial microsomia (HFM), are more likely to develop left-handedness. HFM is the second most common birth defect after cleft lips, and is a condition that affects the development of the lower half of the face. It most commonly affects the ears, mouth or jaw, and can occur on either side of the face or both. Conducted by physician researchers from Hasbro Children's Hospital and Children's Hospital Boston, the new study ...]]> http://www.medindia.net/news/Left-Handedness-In-Children-Maybe-Linked-To-Congenital-Disorder-48266-1.htm http://www.medindia.net/news/Hallmarks-A-Genetic-Disorder-Recreated-In-Lab-45502-1.htm University of Wisconsin-Madison researchers have successfully recreated the hallmarks of a genetic disorder in their lab, using stem cells derived from a patient. The researchers claim that their work marks an enormous step forward in being able to study and develop new therapies for genetic diseases, as it would provide scientists with a great opportunity to watch the course of a disease unfold in the laboratory. esearch leader Clive Svendsen has revealed that this breakthrough was achieved ...]]> http://www.medindia.net/news/Hallmarks-A-Genetic-Disorder-Recreated-In-Lab-45502-1.htm http://www.medindia.net/news/Simple-Blood-Test-To-Detect-Genetic-Disorder-In-Fetus-On-The-Anvil-44607-1.htm With just a drop of the mother's blood, it may soon be possible to determine whether an unborn baby has a genetic disorder, say researchers. The scientists hope that soon a simple blood test would help determine if the fetus has a disorder such as cystic fibrosis or beta-thalassaemia. The conventional methods involve tests such as amniocentesis, in which a sample of amniotic fluid surrounding the fetus is taken; however, it increases the risk of suffering a miscarriage. The researchers ...]]> http://www.medindia.net/news/Simple-Blood-Test-To-Detect-Genetic-Disorder-In-Fetus-On-The-Anvil-44607-1.htm