Kathi Pierce noticed almost from birth that her son Wesley was having some problems when he had trouble breast-feeding. It took years of trying various medical exams before Wesley was diagnosed with low-functioning autism. Now Pierce worries about changes being considered to the definitions and diagnostic criteria of autism and other spectrum disorders. Those proposed changes could have large ramifications for local families, said Joshua Diehl, the University of Notre Dame psychology professor who eventually told Pierce with certainty that Wesley had autism. "We've seen it coming since a couple of years back," Diehl said of the changes. "We began to see it as more research came out about the autism spectrum." The proposed changes from the American Psychiatric Association (APA) are to the various disorders lumped under the "autism" umbrella, most well-known being Asperger's disorder and Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS). The changes would eliminate separate terms and lump all diagnoses under the term "autism spectrum disorder." The proposed changes would also create a new category, "social communication disorder," which would cover those who don't exactly fit symptoms of autism, but still have trouble communicating and interacting with others. Some experts believe up to 40 percent … Continue reading →

Life can be stressful for both children with autism and their families. That's why experts say it's important for parents to be informed about the latest treatments. On Saturday, they had a chance to speak to professionals about that most recent research. "Autism is something that is part of my life everyday. It isn't something I do from eight in the morning until three as a school practitioner. It's something that I am living and breathing all the time," said Melissa Parrish. Melissa Parrish's 12-year-old son has autism. When he was diagnosed at the age of three, Melissa moved her family from New York City to Rochester; an area filled with services that fit the needs of her family. On Saturday, she attended a research focused conference held by the University of Rochester and Golisano Children's Hospital. "The initial studies looking at autism were really looking at the causes, the genetics, the biology of autism and those continue, but more and more studies are starting to look at the common health conditions faced by children with autism as well as some treatment strategies," said Lynn Cole, Director of Kirch Developmental Center at University of Rochester. Although there is no cure, … Continue reading →

Michelle Randalls left hand shook as Glens Falls Hospital physical therapist Casey Clark put her through her paces: threading a washer on a screw, taking a small plastic bead and dropping it in a pill bottle, turning over a playing card, standing a wooden block on end and, finally, answering a text message her husband left for her. The exercise left the 50-year-old Queensbury stroke patient physically drained. Its like it takes every muscle in my body to make that happen, things I never thought about before. How crazy is that? Randall said. Recovering from a stroke requires teamwork, and Randall is grateful to have her assembled squad at Glens Falls Hospital, especially her stroke support group. The former dental assistant suffered an ischemic stroke while undergoing surgery Oct. 1. She was evaluated by a neuropsychologist and found to have apraxia, which Clark said is a difficulty in planning a movement. You might not even realize Randall had a stroke because outwardly only her left hand is affected, but most of the damage has occurred in her brain. She was fortunate because with her type of stroke she doesnt have paralysis. People expect to find weakness or slurring of her … Continue reading →

09-06-2012 16:05 06/07-08/2012 Mom gave a blood sample. Dad spit. The entire genome of their fetus was born. Researchers at the University of Washington have, for the first time, done a near-total genome sequence of a fetus in this way. Scientists published the results of this study in the journal Science Translational Medicine, suggesting that thousands of genetic diseases could be detected in children while they are still in the fetal stage. More: Read more from the original source: Welcome to Gattaca: Genetic Discrimination Becomes Reality - Video … Continue reading →

Home Calcutta News.Net Sunday 10th June, 2012 (IANS) Simran Kaur, 42, was suffering from cerebellar ataxias, a rare genetic disorder, which left her wheelchair bound, incontinent, with slurred speech and no chances of improvement. Her family then came to know about human embryonic stem cell therapy. A few weeks of treatment later her condition improved, giving a new ray of hope to the family. Simran is among the few people from 43 countries who are undergoing human embryonic stem cell therapy in a Delhi-based hospital, Nutech Mediworld, which claimed to be the first facility in the world providing treatment for incurable diseases through this therapy. In embryonic stem cell therapy, cells are taken from a discarded embryo during in-vitro fertilization (IVF), cultured and injected into the body of a person suffering from terminal disease. Embryonic stem cells can divide and grow into any body part and cell following the normal division that is initially inherent in an embryo. Over the last ten years, the technology developed by Geeta Shroff, the medical director of Nutech Mediworld, has been used to treat more than 1,000 patients, one-fourth of them from abroad, suffering from conditions labelled as incurable or terminal. "I have been … Continue reading →

Editor's Choice Main Category: Pregnancy / Obstetrics Also Included In: Genetics;Pediatrics / Children's Health Article Date: 08 Jun 2012 - 12:00 PDT Current ratings for: 'Genetic Screening During Pregnancy Shows Promise' 1 (1 votes) The researchers findings open up the possibility of assessing a fetus non-invasively for all single-gene disorders. Approximately 1% of newborns are born with disorders that are caused by a defect in a single gene. These "Mendelian" disorders include cystic fibrosis, Huntington's disease, and Tay-Sachs disease. In the future, the new non-invasive technique could help screen for these types of genetic mutations in the fetus without increasing the risk of miscarriage, said Jay Shendure and his team at the University of Washington. Shendure explained: "This work opens up the possibility that we will be able to scan the whole genome of the fetus for more than 3,000 single-gene disorders through a single, non-invasive test." At 18.5 weeks gestation, the researchers were able to map the whole genome of a fetus and then reconstructed it using DNA from the mother's blood plasma and saliva from the father. Although fetal DNA is found in the mother's blood plasma, it can be challenging to distinguish which genetic signature belongs to … Continue reading →