MedWorm provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest medical blog items that have been tagged with 'fragile x'. Sat, 03 Sep 2011 02:20:56 +0100 http://www.medworm.com/index.php?rid=3519708&cid=t_127401_150_f&fid=35777&url=http%3A%2F%2Ffeedproxy.google.com%2F%7Er%2FPharmalot%2F%7E3%2FAG8eBSsFFIk%2F Here’s a rare bit of good news concerning retardation and autism. A Novartis clinical trial for an experimental drug is prompting researchers to wax optimistic about coping with the fragile X syndrome, which is the most common inherited cause of these mental disaibilities. The trial revealed ’substantial improvements in behaviors associated with the syndrome,’ The New York Times writes. “We have been reluctant to make this public because we still need to do more experiments, do them correctly and in a bigger way. But our group feels pretty good about the data,” Marc Fishman, who heads Novartis Institutes for BioMedical Research, tells the paper. There are caveats - the trial involved only a few dozen patients, only some of whom benefited. And a drug is still years awa... Pharmalot blogs http://www.medworm.com/rss/comments.php?id=3519708 Fri, 30 Apr 2010 12:39:34 +0100 3519708 http://www.medworm.com/index.php?rid=2807809&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2FHM72KeO8vsg%2F Tiny biotech company, Seaside Therapeutics, of Cambridge, Mass., has raised $30 million to pursue an autism drug that would help people with Fragile X and autism communicate better. The effects of the drug are about to be studied in a clinical trial for two groups of patients, some with Fragile X, and CEO Randall L. Carpenter, who has a medical degree, explains that their medication, which controls glutamate signaling in the brain, may enhance individuals’ ability to interact with their environment, reduce irritability and help them remain calm. According to Carpenter, results in their animal models have been promising, and they expect to see results of the study, which is enrolling children as young as 6, in 2010. Mark Bear, founder of Seaside, is an MIT neuroscientist who has been ... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=2807809 Thu, 17 Sep 2009 21:16:58 +0100 2807809 http://www.medworm.com/index.php?rid=2786224&cid=t_127401_133_f&fid=37107&url=http%3A%2F%2Fwww.aspieweb.net%2Ffragile-x-syndrome-pregnant-testing%2F Hi everyone its Kate. I have been doing some research on something called Fragile X Syndrome or FXS. I have a feeling that Zach may have FXS and would like to look into testing for it.  Some of his family history and traits are there. One is flat feet and also a lot of people [...] (Source: AspieWeb.net) AspieWeb.net blogs http://www.medworm.com/rss/comments.php?id=2786224 Fri, 11 Sep 2009 14:57:45 +0100 2786224 http://www.medworm.com/index.php?rid=2772486&cid=t_127401_86_f&fid=36669&url=http%3A%2F%2Ffadelibrary.wordpress.com%2F2009%2F09%2F07%2Fjournal-of-medical-genetics-2009-volume-46-no-9%2F Contents Page Fade Fave: Fragile X syndrome: from molecular genetics to therapy Fade Skinny: This review aims to summarise two decades of molecular research leading to the characterisation of cellular and molecular pathways involved in the pathology of this disease and as a consequence to the identification of two new promising targets for rational therapy of fragile X syndrome, namely the group 1 metabotrope glutamate receptors (Gp1 mGluRs) and the -amino butyric acid A receptors (GABAARs) (NHS Athens is required to access this article online) Posted in Access from Home, Access from Work, Access in the Library, Athens Password, Current Awareness, E-Journals Tagged: Athens Password, Current Awareness, E-Journals, Fragile X Syndrome, Genetics (Source: Fade Library) Fade Library blogs http://www.medworm.com/rss/comments.php?id=2772486 Mon, 07 Sep 2009 13:37:59 +0100 2772486 http://www.medworm.com/index.php?rid=2329677&cid=t_127401_146_f&fid=38266&url=http%3A%2F%2Fsleepeducation.blogspot.com%2F2009%2F04%2Fmelatonin-improves-sleep-problems-in.html A new study in the Journal of Clinical Sleep Medicine shows that melatonin supplements may be helpful for children with autism.The small study involved 12 children between the ages of 2 and 15 years. Each child had either autistic spectrum disorder, fragile X syndrome, or both problems. The children took 3 mg of melatonin 30 minutes before bedtime for two weeks.Results show that melatonin improved three aspects of their sleep. The children slept for an average of 21 more minutes each night. The length of time it took them to fall asleep was 28 minutes shorter. And the time of night when they fell asleep was 42 minutes earlier.The study reports that sleep problems are common in children with autism. Senior author Beth L. Goodlin-Jones, PhD, told the AASM that these problems can affect the e... Sleep Education blogs http://www.medworm.com/rss/comments.php?id=2329677 Wed, 15 Apr 2009 16:50:00 +0100 2329677 http://www.medworm.com/index.php?rid=2077346&cid=t_127401_88_f&fid=38203&url=http%3A%2F%2Fprecordialthump.medbrains.net%2F2008%2F12%2F30%2Frevisiting-a-picture-worth-a-thousand-words-iv%2F Remember Roger Ballen’s photograph from “A picture worth a thousand words… IV“? So, what’s the diagnosis? See and then reason and compare and control. But see first. No two eyes see the same thing. No two mirrors give forth the same reflection. - William Osler Berci, of ScienceRoll fame, pointed the finger at Fragile X syndrome (also known as Martin-Bell syndrome). The features of this condition certainly appear consistent with the two men depicted in the photograph, as discussed at Clinical Cases and Images: X-linked heredity with variable penetrance - so males are more commonly affected, as they lack a “back up” copy of the gene. Mental retardation (IQ 35-70 is typical), autistic-like behaviour, and other neuropsychological problems. I think thi... AEQUANIMITAS blogs http://www.medworm.com/rss/comments.php?id=2077346 Tue, 30 Dec 2008 22:24:47 +0100 2077346 http://www.medworm.com/index.php?rid=2035858&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2Fv3UB4FiJwVA%2F In the midst of talk of diagnosis and disability rights, of treatments and of what’s an appropriate education for an autistic student, we took a hands-free cold walk last weekend to see the Christmas tree at Rockefeller Plaza, and passed a wall of snowflakes too. Age of Diagnosis and the Apparent Increase in Autism A study in the December Archives of Pediatrics and General Medicine examines autism prevalence trends over time in Denmark and states that “the apparent increase in autism in recent years is in part attributable to a decrease over time in the age at diagnosis. Recovery Distracts How the notion of “recovery from autism” colors—not for the better— parents’ decisions about “treatments” and “therapies” for autism, and also on the popular percept... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=2035858 Sun, 14 Dec 2008 02:36:32 +0100 2035858 http://www.medworm.com/index.php?rid=2027200&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2FiL1ipKgmG44%2F Experimental drugs that are said to “correct” symptoms of Fragile X, Rett Syndrome, and tuberous sclerosis complex are now in early-stage human trials, the MIT Technology Review reports. The drugs reduce the activity of a receptor called metabotropic glutamate receptor 5, or mGluR5, and have previously been tested on mice, as reported in the June 25-29 issue of the Proceedings of the National Academy of Science. From the MIT Technology Review: People with fragile X, the most common form of heritable mental retardation and a leading cause of autism, have a mutation in the FMRP gene, which normally inhibits protein synthesis stimulated by a receptor called metabotropic glutamate receptor 5, or mGluR5. Last year, [lead researcher and MIT neuroscientist Mark Bear] and Gul Dolen, al... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=2027200 Tue, 09 Dec 2008 16:59:01 +0100 2027200 http://www.medworm.com/index.php?rid=2017839&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2FbvEx_R7Iqp8%2F An article in the November Journal of the American Medical Association by researchers at the UC Davis M.I.N.D. Institute calls for Fragile X testing throughout the lifespan. The genetic mutation that is linked to Fragile X, fragile X mental retardation 1 (FMR1), also gives rise to a “family of disorders occurring throughout the entire life span, including the most common heritable form of intellectual disability, fragile X syndrome, and premature menopause (primary ovarian insufficiency).” Further mutations of the gene also are the cause of fragile X–associated tremor/ataxia syndrome (FXTAS), which is “one of the most common single-gene, late-onset neurodegenerative disorders.” Researchers note that, while it might be thought that these disorders are rare, such an... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=2017839 Sat, 06 Dec 2008 00:06:44 +0100 2017839 http://www.medworm.com/index.php?rid=1535818&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F316403012%2F While the scientific evidence refutes a link between autism and vaccines, parents of young children can’t seem to stop worrying about this and (as a June 18th CNN story reports) are wondering: Should they vaccinate their baby? Should they space out the vaccines and have a child receive their immunizations for measles, mumps and rubella separately, rather than in one vaccine, the MMR? A new book, Do Vaccines Cause That?! A Guide for Evaluating Vaccine Safety Concerns,provides sensible and straightforward answers to these sorts of concerns. The book is written by Martin G. Myers, M.D., and Diego Pineda, the editor and the science writer for the National Network for Immunization Information (NNii) and the co-authors of more than 80 peer-reviewed articles on immunization issues. It might... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1535818 Fri, 20 Jun 2008 19:00:58 +0100 1535818 http://www.medworm.com/index.php?rid=1518734&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F312011498%2F About one-third of those with Fragile X also have autism. My son was tested for Fragile X around the time that he was being evaluated for autism, and Charlie does not have Fragile X (go here to read about a new gene that was found for Fragile X earlier this year). A recent study in Developmental Cell has found that those with Fragile X lack a protein that is crucial for the signaling between the nucleus of neurons and the synapse; this protein is essential for brain development, memory, and learning. More in today’s Science Daily and more about the synapse and autism here. Tags: asd, asperger, autism, autism blog, brain, disabilities blog, Family, family blog, Fragile X, Genetics, neuron, Parenting, pdd-nos, synapseShare This (Source: Autism Vox) Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1518734 Sat, 14 Jun 2008 21:21:24 +0100 1518734 http://www.medworm.com/index.php?rid=1344332&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F262500753%2F The April 1st CNN Money.com reviews the “recent brouhaha about 9-year-old Hannah Poling,” whose family received a settlement under the federal government’s Vaccine Injury Compensation Program “based on their claim that childhood vaccinations aggravated a rare metabolic disorder in Hannah, triggering autism symptoms.” Writer David Stipp notes that, in a 2006 survey, 54% of families claimed that vaccines caused their children to become autistic and comments on how proponents of such a view have “hailed the decision as unprecedented support” that vaccines or something in vaccines can be linked to autism and to rising autism rates, in despite of more and more scientific evidence that dispute an autism-mercury link. Herein lies, Stipp writes, “one... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1344332 Wed, 02 Apr 2008 08:00:20 +0100 1344332 http://www.medworm.com/index.php?rid=1216530&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F231247067%2F The previous post considered a physiological marker for autism that draws on research on the brain responses of adolescents with Asperger Syndrome playing an interactive game. Drs. G. Bradley Schafer of University of Nebraska and Nancy J. Mendelsohn of Children’s Hospitals and Clinics of Minnesota have published an article in the January issue of Genetics in Medicine that outlines a three-tiered “practical, stepwise approach” to the genetic diagnosis of autism that will ” a specific genetic diagnosis in approximately 40 percent of patients with autism-spectrum disorders.” Medical News Today provides an overview (my emphases added): The first tier of genetic evaluation includes tests that should be performed in nearly all children with no obvious cause of aut... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1216530 Thu, 07 Feb 2008 22:58:43 +0100 1216530 http://www.medworm.com/index.php?rid=1198713&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F228614193%2F A new gene linked to Fragile X has been found by researchers at the Scripps Research Institute. More than sixteen years ago, scientists linked Fragile X to another gene FMR1: When FMR1 gene expression is inactivated, there is a lack of a protein known as the fragile X mental retardation protein, which is involved in the functioning of neurons. FMR4 is located in the “same chromosomal neighborhood as FMR1″ and is silenced in individuals with Fragile X, and also ” up-regulated in FXTAS (fragile X-associated tremor/ataxia syndrome), a disease that resembles Parkinson’s disease.” From today’s Science Daily: ……[Professor Claes] Wahlestedt knew the FMR1 gene locus-a specific point on a chromosome-was not well mapped. Wahlestedt and his colleagues... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1198713 Mon, 04 Feb 2008 00:26:48 +0100 1198713 http://www.medworm.com/index.php?rid=1194821&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F227123407%2F A “group of German researchers” has announced that they have “perfected the method for inducing autism.” ??!!!?!?!??? They have also, it is parenthetically noted, figured out how to “cure” autism (this study on reversing symptoms of autism and Fragile X is cited). Cure being a fighting word in discussions about autism, I’ll note that this “autism-inducing drug” is described on io9, a science fiction blog: Need to finish that work project, and wish you had the mental intensity to do it? Just take a synapse-regulating inhibitor, induce temporary autism, and you’ll want to ignore your friends and do nothing but number-crunching for days. Autism-inducers could become as popular as Provigil among the geek set by 2020. Last night,... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1194821 Fri, 01 Feb 2008 09:14:39 +0100 1194821 http://www.medworm.com/index.php?rid=1139842&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F213975953%2F Katie Wright, whose parents Bob and Suzanne Wright are the founders of Autism Speaks, praises their efforts “to bring attention to the needs of our families” and criticizes the organization for not funding “impactful, breakthrough science”—-that is, “biomedical grants on GI disease, methylation pathways and toxicity, vaccinated and unvaccinated siblings.” Wright distinguishes between such biomedical research into alternative treatments what she calls “traditional research, that is, “endless gene research” (such as a new study in today’s New England Journal of Medicine about a region on chromosome 16 that appears to play an important role in susceptibility for ASDs) and also research on the brain (such as a new study about ho... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1139842 Wed, 09 Jan 2008 21:41:03 +0100 1139842 http://www.medworm.com/index.php?rid=1108715&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F203686639%2F Back in June, scientists at the Picower Institute for Learning and Memory at the Massachusetts Institute of Technology (MIT) genetically manipulated mice to have Fragile X Syndrome: Then, by inhibiting a brain enzyme, p21-activated kinase, or PAK (which “affects the number, size and shape of connections between neurons and the brain”), the scientists found that the “brain abnormalities in the FXS mice were reversed.” These findings were reported in the June 25-29 issue of the Proceedings of the National Academy of Science. Fragile X is the most common form of heritable mental retardation and the leading identifiable cause of autism (responsible for about 5% of cases of autism). Today, the journal Neuron reports on the correction of Fragile X syndrome in mice. Many of the symptoms... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1108715 Thu, 20 Dec 2007 23:04:58 +0100 1108715 http://www.medworm.com/index.php?rid=822005&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F148050004%2F As has been noted, I write a lot of posts here—-and, as each post needs a title, sometimes I go for the straightforwardly descriptive; other times, inspiration strikes and something a bit snazzier (to my ear) results. One knows not to “judge a book by its cover” nor, in the same vein, a blog-post by its title, but the volume of information on the internet often means that a reader is more likely to follow the link to a website if the title sounds promising. (Unless, of course, you are the type of reader who is not swayed by clever wordplays and title making big claims.) The titles of some recent articles about autism research are attention-grabbing, but somewhat misleading. Research May Unlock Mystery of Autism’s Origin in Brain trumpeted a Science Daily article (wh... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=822005 Sat, 25 Aug 2007 11:07:41 +0100 822005 http://www.medworm.com/index.php?rid=708842&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F129777835%2F There’s been some (heated) (impassioned) discussion in the autism community of late (go here for one exchange) about research that focuses on possible environmental factors connected to autism “versus” research that focuses on genetics (and perhaps the publicity surrounding the vaccine court hearings has contributed to this). Now that Autism Speaks has announced (on June 29th) that it will fund 52 projects in autism research, for a total of $15.2 million, these exchanges will surely continue. Descriptions of the projects can be found here. Ten of the grants are specifically devoted to treatment students. Regarding the rest, Autism Speaks notes: Along with the ten grants devoted to treatment studies, there are: 11 grants pertaining to determining the etiology, or causes, o... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=708842 Mon, 02 Jul 2007 15:25:09 +0100 708842 http://www.medworm.com/index.php?rid=707194&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F129368024%2F Did Daniel Benoit, the 7-year-old son of wrestler Chris Benoit, have Fragile X? His maternal grandparents, Paul and Maureen Toffoloni, are said to have been unaware that he did, according ESPN.com (June 30th): Meanwhile, the parents of Nancy Benoit were contesting a widely-reported aspect of the case — that Daniel Benoit had an inherted [sic] genetic developmental disability. On Friday, Nancy Benoit’s parents said through their attorney that they were unaware that their grandson had a rare medical condition called Fragile X Syndrome, an inherited form of mental retardation often accompanied by autism. On Thursday, Jerry McDevitt, an attorney for Chris Benoit’s employer, World Wrestling Entertainment, said Daniel Benoit had the condition, and added that Chris and Nancy Be... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=707194 Sun, 01 Jul 2007 01:39:56 +0100 707194 http://www.medworm.com/index.php?rid=700740&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F128463835%2F Canadian wrestler Chris Benoit’s 7-year-old son is reported to have had Fragile X: Last Friday, Benoit killed his son, Daniel, his wife and himself in their Georgia home. The sad details are in this article. The June 26th News 1130 (Vancouver) reports: Pam [Winthrope]’s 12-year-old son has the condition and she said in an effort to shed light on the syndrome, her husband called Chris Benoit about five years ago. She said, “We talked to him because I was trying to set up a support group in BC and in Canada, we only have a couple of them. My husband was struggling when we got diagnosed with our son, and Chris was struggling with his. They talked for a few minutes and then he said he didn’t want to be a public face for Fragile X, he just wanted to keep it really, reall... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=700740 Wed, 27 Jun 2007 22:06:18 +0100 700740 http://www.medworm.com/index.php?rid=695323&cid=t_127401_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F127931770%2F A way to “reverse symptoms of mental retardation and autism in mice” has been discovered by scientists at the Picower Institute for Learning and Memory at Massachusetts Institute of Technology (MIT), the June 25th Forbes reports. The scientists genetically manipulated the mice to have Fragile X Syndrome, which (according to the National Fragile X Foundation) is a “family of genetic conditions…… all caused by gene changes in the same gene, called the FMR1 gene.” For between 2% and 6% of children diagnosed with autism, the Fragile X gene mutation is the cause. By inhibiting a brain enzyme, p21-activated kinase, or PAK (which “affects the number, size and shape of connections between neurons and the brain”), the scientists found that the “... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=695323 Tue, 26 Jun 2007 02:20:48 +0100 695323 http://www.medworm.com/index.php?rid=488141&cid=t_127401_133_f&fid=35123&url=http%3A%2F%2Fperdition.blogurple.com%2F2006%2F08%2F11%2Fthe-computer-screen-is-the-retina-of-the-minds-eye%2F David Cronenberg is psychic. That has to be why he made an AIDS allegory in 1975 (it is an AIDS allegory, damn it!); why he wrote about the collision of television and real-life schadenfreude twenty years before the reality TV craze. And, frankly, I think he was saying something about Autism Every Day, too. Videodrome stars James Woods as a fellow named Max Renn who owns a cable TV station. Max “strive[s] for art in reverse,” as John Waters would say; Channel 83 is the premiere showcase for pornography and violence. But he needs a new show, and softcore Japanese erotica isn’t cutting it. While scanning the airwaves for a show he can pirate (ahem, borrow), he finds the simplest, most powerful program he’s ever seen: a woman stands in front of a wall while a man whips her&#8... Sweet Perdition blogs http://www.medworm.com/rss/comments.php?id=488141 Fri, 11 Aug 2006 18:05:06 +0100 488141 http://www.medworm.com/index.php?rid=488142&cid=t_127401_133_f&fid=35123&url=http%3A%2F%2Fperdition.blogurple.com%2F2006%2F08%2F08%2Fquintus%2F There’s a lot of weirdness going around—and that’s a marvelous thing. Lots of Autism Hub bloggers are playing meme tag. And, although I haven’t been tagged, I’m in desperate need of a blog entry. So here are 5 Weird Things About Me: 1. I read our family medical encyclopedia for fun when I was little—-the dermatology chapter was my favorite. However, although I genuinely liked this interest (and still do), I was always afraid other people would find out about it. To this day, I don’t like hearing words associated with skin diseases—even if I l like reading them and can muster the courage to write them. 2. I’m related to King Edward—the bad one, from Braveheart—and Lyndon B. Johnson. 3. I can do this. It’s one of the many r... Sweet Perdition blogs http://www.medworm.com/rss/comments.php?id=488142 Wed, 09 Aug 2006 02:22:08 +0100 488142