http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Researchers at the Douglas Mental Health University Institute, have discovered a new genetic process that could one day provide a novel target for the treatment of neurodevelopmental disorders, such as intellectual disability and autism. http://medicalxpress.com/news/2012-12-genetic-pathway-neurodevelopmental-disorders.html Genetics Thu, 06 Dec 2012 12:59:51 EST news274021174 Down syndrome is a neurodevelopmental disorder that is the leading cause of genetically defined intellectual disability. In the brain, Down syndrome results in alterations in the connections between neurons and a reduction in the development of new neurons (neurogenesis) that usually occurs during learning. http://medicalxpress.com/news/2012-12-lithium-cognitive-function-syndrome-mice.html Neuroscience Mon, 03 Dec 2012 12:00:17 EST news273754265 A potential new therapeutic strategy for treating Fragile X syndrome is detailed in a new report appearing in the current issue of Biological Psychiatry, from researchers led by Dr. Lucia Ciranna at University of Catania in Italy. http://medicalxpress.com/news/2012-11-next-generation-treatments-fragile-syndrome.html Psychology & Psychiatry Thu, 29 Nov 2012 11:14:36 EST news273410066 A new study published online in PLOS ONE reveals that primitive human stem cells are resistant to human cytomegalovirus (HCMV), one of the leading prenatal causes of congenital intellectual disability, deafness and deformities worldwide. Researchers from the University of Pittsburgh School of Medicine found that as stem cells and other primitive cells mature into neurons, they become more susceptible to HCMV, which could allow them to find effective treatments for the virus and to prevent its potentially devastating consequences. http://medicalxpress.com/news/2012-11-virus-developmental-deafness-treatment.html Medical research Wed, 28 Nov 2012 13:38:34 EST news273332302 A new study demonstrates the dynamic role cilia play in guiding the migration of neurons in the embryonic brain. Cilia are tiny hair-like structures on the surfaces of cells, but here they are acting more like radio antennae. http://medicalxpress.com/news/2012-11-cilia-neuronal-migration-brain.html Medical research Mon, 12 Nov 2012 15:32:37 EST news271956681 A research team reported that next generation sequencing of the exome, the 1 to 2% of the DNA containing the genes that code for proteins, enabled the identification of the genetic causes of unexplained intellectual disability in over 50% of patients in a study conducted at Radboud University Medical Centre in Nijmegen, The Netherlands. http://medicalxpress.com/news/2012-11-unexplained-intellectual-disability-state-of-the-art-genetic.html Genetics Thu, 08 Nov 2012 13:30:07 EST news271583182 Research findings confirming that de novo mutations represent a major cause of previously unexplained intellectual disability were presented on Nov. 8 at the American Society of Human Genetics 2012 meeting in San Francisco. http://medicalxpress.com/news/2012-11-exome-sequencing-potential-diagnostic-assay.html Genetics Thu, 08 Nov 2012 13:30:03 EST news271583263 Scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown that a single protein plays an oversized role in intellectual and behavioral development. The scientists found that mutations in a single gene, which is known to cause intellectual disability and increase the risk of developing autism spectrum disorder, severely disrupts the organization of developing brain circuits during early childhood. This study helps explain how genetic mutations can cause profound cognitive and behavioral problems. http://medicalxpress.com/news/2012-11-uncovering-secrets-intellect-behavior-emerge.html Genetics Thu, 08 Nov 2012 12:00:12 EST news271580736 A report into Bullying of People with Intellectual Disabilities and an Easy to Read Bullying Information Guide, compiled by the National Institute for Intellectual Disability (NIID), Trinity College Dublin in association with the National Anti-Bullying Advocacy Group (NAAG), was launched o recent by the Director of the National Disability Authority, Siobhan Barron.  http://medicalxpress.com/news/2012-11-bullying-people-intellectual-disabilities.html Psychology & Psychiatry Thu, 08 Nov 2012 06:14:45 EST news271577644 The federal government and five state governments in Australia have now apologised for forced adoption of babies from mothers in the 1950s, 60s and 70s. During those times there was a belief that young and unmarried women were and 'incapable' of parenting. http://medicalxpress.com/news/2012-11-inequality-parents-intellectual-disabilities.html Psychology & Psychiatry Tue, 06 Nov 2012 07:35:01 EST news271409693 Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability – and they've discovered something new about the causes of intellectual disability in the process. http://medicalxpress.com/news/2012-10-protein-linked-intellectual-disability.html Genetics Thu, 25 Oct 2012 11:10:01 EST news270378966 New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating a low risk of passing on the disorder to further children. http://medicalxpress.com/news/2012-09-large-proportion-intellectual-disability-genetically.html Genetics Wed, 26 Sep 2012 18:30:01 EST news267895320 Neuroscientists at New York University have devised a method that has reduced several afflictions associated with Fragile X syndrome (FXS) in laboratory mice. Their findings, which are reported in the journal Neuron, offer new possibilities for addressing FXS, the leading inherited cause of autism and intellectual disability. http://medicalxpress.com/news/2012-09-neuroscientists-fragile-afflictions.html Medical research Wed, 19 Sep 2012 12:00:13 EST news267273547 Two to three percent of the children are born with an intellectual disability. Possibly by a genetic defect, but in 80% of these cases, we do not know – yet - which genes are responsible. VIB researchers at KU Leuven show that increased production of the HUWE1 protein is the cause in some patients. http://medicalxpress.com/news/2012-08-protein-huwe1-intellectual-disability.html Genetics Fri, 31 Aug 2012 10:12:05 EST news265626718 (HealthDay)—Children with neurologic disorders such as cerebral palsy, intellectual disability or epilepsy are at increased risk of dying from flu, a new study says. http://medicalxpress.com/news/2012-08-kids-neurological-conditions-higher-flu.html Pediatrics Thu, 30 Aug 2012 11:10:01 EST news265540469 (Medical Xpress)—Scientists have established a genetic mouse model for primary ovarian insufficiency (POI), a human condition in which women experience irregular menstrual cycles and reduced fertility, and early exposure to estrogen deficiency. http://medicalxpress.com/news/2012-08-early-menopause-mice-human-poi.html Genetics Thu, 30 Aug 2012 09:47:26 EST news265538835 Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that control both gene expression and cell division, the research sheds light on this disease, which causes intellectual disability, limb deformations and other disabilities resulting from impairments in early development. http://medicalxpress.com/news/2012-08-cornelia-delange-syndrome-mutations-disrupt.html Genetics Sun, 12 Aug 2012 13:00:07 EST news263812960 Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. 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. http://medicalxpress.com/news/2012-08-fragile-syndromes-pathway-intellectual-disability.html Genetics Fri, 03 Aug 2012 12:38:22 EST news263216268 About 5% of children worldwide (around 93 million children) have a moderate or severe disability. Although children with disabilities are thought to be at greater risk of violence, this is the first study to quantify the prevalence and magnitude of that risk. http://medicalxpress.com/news/2012-07-children-disabilities-victims-violence-disabled.html Health Wed, 11 Jul 2012 18:30:01 EST news261241018 A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists. http://medicalxpress.com/news/2012-07-scientists-gene-linked-facial-skull.html Genetics Thu, 05 Jul 2012 12:05:22 EST news260708701 Nuremberg, Germany: The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics today (Monday). The scientists were able to perform a genetic diagnosis in around 20% of 100 cases of patients with intellectual disability (ID) and 50% of the 25 cases of blindness studied. Not only is the exome test cheaper, but results are available more quickly than with Sanger sequencing[1], they say. http://medicalxpress.com/news/2012-06-exome-sequencing-cheaper-faster-diagnosis.html Genetics Mon, 25 Jun 2012 02:47:57 EST news259811262 The use of genome-wide array analysis in parents whose children are suspected of having a genetic disease shows that the parents frequently also have previously undetected genetic abnormalities, a researcher from The Netherlands told the annual conference of the European Society of Human Genetics. Being aware of this is important to parents because it means that their risk of having another affected child is significantly increased. http://medicalxpress.com/news/2012-06-genome-wide-analysis-previously-undetected-abnormalities.html Genetics Sun, 24 Jun 2012 08:22:08 EST news259744773 The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene – and its associated health risks – may be more common than previously believed. http://medicalxpress.com/news/2012-06-fragile-gene-prevalence-broader-health.html Genetics Thu, 14 Jun 2012 12:05:59 EST news258894295 (Medical Xpress) -- A new study by researchers at the UC Davis MIND Institute suggests that women who consume the recommended daily dosage of folic acid, the synthetic form of folate or vitamin B-9, during the first month of pregnancy may have a reduced risk of having a child with autism. http://medicalxpress.com/news/2012-06-folic-acid-intake-autism.html Autism spectrum disorders Thu, 14 Jun 2012 06:52:54 EST news258875529 New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental disorder. http://medicalxpress.com/news/2012-06-brain-cell-imbalance-account-seizure.html Neuroscience Wed, 06 Jun 2012 16:10:01 EST news258215785 Scientists at the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that mice that lack a gene called Snf2l have brains that are 35 per cent larger than normal. The research, led by Dr. David Picketts and published in the prestigious journal Developmental Cell, could lead to new approaches to stimulate brain regeneration and may provide important insight into developmental disorders such as autism and Rett syndrome. http://medicalxpress.com/news/2012-05-mice-big-brains-insight-brain.html Genetics Tue, 15 May 2012 10:15:16 EST news256295665 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 by Yale University researchers shows. http://medicalxpress.com/news/2012-05-evolution-gift-root-autism.html Genetics Thu, 10 May 2012 12:00:10 EST news255868881 Researchers at the Centre for Addiction and Mental Health (CAMH) led a study discovering a gene for a new form of intellectual disability, as well as how it likely affects cognitive development by disrupting neuron functioning. http://medicalxpress.com/news/2012-04-intellectual-disability.html Genetics Fri, 27 Apr 2012 09:48:06 EST news254738853 A team led by scientists at Cold Spring Harbor Laboratory (CSHL) publishes research today indicating a striking association between genes found disrupted in children with autism and genes that are targets of FMRP, the protein generated by the gene FMR1, whose dysfunction causes Fragile-X syndrome. The new study appears online April 25 in the journal Neuron. http://medicalxpress.com/news/2012-04-link-fragile-x-gene-mutations-autism.html Genetics Wed, 25 Apr 2012 12:01:11 EST news254574039 A recent study finds that a new compound reverses many of the major symptoms associated with Fragile X syndrome (FXS), the most common form of inherited intellectual disability and a leading cause of autism. The paper, published by Cell Press in the April 12 issue of the journal Neuron, describes the exciting observation that the FXS correction can occur in adult mice, after the symptoms of the condition have already been established. http://medicalxpress.com/news/2012-04-fragile-syndrome-reversed-adult-mouse.html Neuroscience Wed, 11 Apr 2012 12:00:10 EST news253364173