From NPR:

Scientists at MIT are studying Fragile X syndrome, a genetic mutation that can cause intellectual disabilities and autism. They say they may have identified a way to use medication to regulate brain cell connections in people with Fragile X. So far the drugs have only been used in mice, but they are now being tried in humans. One small study found that a single dose of a drug had an effect.

“It’s a dream come true to think that we have the prospect of having gone from really basic science discovery to a potential treatment,” says Mark Bear, who directs the Picower Institute for Learning and Memory at MIT.

The research has been funded in part by a group that was started by parents of a young man with Fragile X.

From Time magazine:

An explosion of research into Fragile X syndrome is yielding information that may help scientists understand and treat autism, and possibly some other conditions as well.

“Fragile X is leading the autism field in terms of new treatments,” says pediatrician Randi Hagerman, medical director of the MIND Institute at the University of California, Davis. “We know the gene, we know a lot about the biology, and we know how to fix it. That’s pretty exciting!”

The disorder is caused by a gene on the X chromosome. It affects roughly 1 in 2,500 boys, leading to autism spectrum disorders in about half of them.

All but 5 of 41 cast members have developmental disabilities, but each one feels ‘Footloose’

An intimate and perceptive piece by Drew Jubera in the Atlanta Journal Constitution about a local theater production starring people with intellectual disabilities.

Some quotes to ponder:

“I’m a bagger by morning, an actor at night.” Katie Rouille, 27

“A lot of people say I can’t do something, and I just say I can. I’m determined that way.” Cynthia Outman, 31, who has Down syndrome

“I do it for the same reason real actors do it: to get away from who I am and be someone else. It’s challenging every day to do things. But this shows people with disabilities ‘you can do it.’ Linda Danzig, 57

“These are the people behind the bakery counter in Publix or bagging your groceries who you may not have noticed until they came here and are under the lights. It does for them what theater does for anybody. The shy checkout girl who takes a theater class and finds her voice.” Kim Goodfriend, the theater’s founding producer

“There are more similarities than differences. Every actor is sensitive. They’re ripping their chest cavity open and exposing themselves to failure. ” Dina Shadwell, the theater’s director

From Reuters:

Genetic engineering can correct the worst symptoms in mice with Fragile X syndrome, the most common inherited cause of mental retardation and autism, U.S. researchers reported in the journal Neuron.

They said it is possible a drug could do the same thing, perhaps providing a treatment for Fragile X syndrome and other causes of retardation and autism, too.

Fragile X causes seizures, impaired memory, learning disabilities, hyperactivity, severe mental retardation and accelerated body growth. It affects 90,000 to 100,000 Americans. There is no treatment.

The mutation in mice was created by investigator Mark Bear at the Massachusetts Institute of Technology.

Related links:

Gene therapy ‘corrects Fragile X’ — BBC

A fix for one type of autism — Time Magazine

Gene tinkering cures autism symptoms in mice; Pill in the pipeline could have same effect in people, scientists say — MSNBC

From Newsday, a feature about musical performer Brittany Maier, who has autism, a vision impairment and a brain impairment. Brittany can play hundreds of songs on the piano, and has two albums out as well as several original songs. Her mother says she is a savant.

From the Boston Globe, Wellesley Townsman:

A new book by Clare Dunsford, associate dean of the College of Arts and Sciences of Boston College, chronicles her life raising a son with Fragile X syndrome.

Dunsford uses poetry and candor to document a condition the world knows little about by inviting the reader into snapshots of the disability that has been woven throughout the fabric of her life — from coming to terms with her role as a carrier to the poetic retelling of the roller coaster that is life with her son.

The book’s website is here.

From the BBC:

A team from Emory University is reporting early success in using drugs to reverse the effects of Fragile X syndrome in brain cells taken from rats. The study appears in Proceedings of the National Academy of Sciences. Fragile X is said to be the most common cause of inherited learning difficulties.

An earlier story about the Emory program of research and clinical care of Fragile X appears here.