An experimental drug that helps people who have Fragile X syndrome is raising hopes of a treatment for autism. The drug, called Arbaclofen, made people with Fragile X less likely to avoid social interactions, according to a study in Science Translational Medicine. Researchers suspect it might do the same for people with autism. Fragile X is a rare genetic syndrome that can cause intellectual and social problems that are very similar to autism. The discovery that Arbaclofen helps people with Fragile X might never have occurred without the efforts of Katie Clapp and Michael Tranfaglia, a Massachusetts couple whose son was born with the syndrome more than 20 years ago. When the couple learned that their son Andy had Fragile X, they started a foundation called FRAXA. It's goal was to fund research that would lead to a treatment for their son. Clapp says that goal is now in sight. "Back in 1994, we knew exactly what we were aiming for, and it's gotten closer and closer, little by little," she says. Research funded in part by FRAXA led to the discovery that Fragile X disrupts a system that regulates connections in the brain. That discovery eventually led to drugs … Continue reading →

An experimental drug can improve sociability in patients with fragile X syndrome and may be helpful as a treatment for autism, according to the authors of a new study. Fragile X is a rare genetic disorder that affects about 1 in 4,000 boys and 1 in 8,000 girls, according to the National Institutes of Health. It usually results in mental retardation and in about half of cases some form of autism. In fragile X, which accounts for 2% of autism cases, a mutation in a gene on the X chromosome turns off production of a regulatory protein known as FMRP. That leads to out-of-control activation of the brain chemical glutamate, which plays a key role in learning and memory, potentially explaining social anxiety and other symptoms of the disorder. A group of researchers tested a drug known as STX209 in mice that were genetically engineered to have an animal version of fragile X. The researchers found that it helped correct the biochemical abnormalities associated with the mutation and reduced seizures and repetitive behaviors in the mice, they reported Wednesday in the journal Science Translational Medicine. In a related study published in the same journal, 46 children and 17 adults with … Continue reading →

Hospitals in north Essex missing cancer and stroke targets By Amie Keeley Thursday, September 20, 2012 6:00 AM CANCER treatment targets have been missed in north Essex, new statistics reveal. To send a link to this page to a friend, simply enter their email address below. The message will include the name and email address you gave us when you signed up. Send link To send a link to this page to a friend, you must be logged in. In the first quarter of this financial year April to June Colchester University Foundation Trust treated 81.9% of cancer patients within the 62-day referral-to-treatment time limit, falling short of its 85% target. However, the trust, which also serves hospitals in Braintree, Witham, Halstead and Tendring, exceeded targets in June and July, when months are looked at in isolation. A trust spokesman said statistics for cancer treatment times had improved since June, but accepted they needed to rise still further. View original post here: Essex: Hospitals missing cancer and stroke targets … Continue reading →

September 20, 2012 in Features Anthony L. Komaroff Universal Uclick DEAR DOCTOR K: My child stutters. Why does he do this? What can we do to helphim? DEAR READER: I remember the first time I met someone who stuttered. He was a playmate when I was in grade school, whose parents knew my parents. I never heard him say the words mother or father. It was always m-m-m-mother orf-f-f-father. When I asked my mom about him, she explained that he was probably having emotionalproblems. My moms diagnosis reflected common beliefs. For a long time, stuttering was believed to be a psychological problem. But recent research suggests that stuttering has a strong biological basis, even though it may also be affected byemotions. In fact, recent studies indicate that genetic factors probably play a larger role than scientists once thought. A study published in 2010 in the New England Journal of Medicine identified specific changes in genes (short sequences of genetic material) that may increase the risk of stuttering. At least one of these genes is particularly active in parts of the brain linked to motor function and emotion. Speech involves tremendous motorcoordination. There also is evidence that strong emotions and anxiety … Continue reading →