From the New York Times:

Novartis, the Swiss pharmaceutical company, disclosed in an interview this week that an experimental drug has brought about substantial improvements in the behaviors of people with Fragile X syndrome in a small clinical trial.

The research involved only a few dozen subjects and has not been published or peer reviewed.

The company refused to reveal many details, citing commercial interests, but a Novartis official cautioned against too much optimism. Dr. Mark C. Fishman, president of the Novartis Institutes for BioMedical Research, said the drug is likely to be years from commercial development and could fail further clinical trials.

If authenticated in further, larger trials, the results could also become a landmark in the field of autism research, since scientists speculated that the drug may help some patients with autism not caused by fragile X, perhaps becoming the first medicine to address autism’s core symptoms.

… “This is perhaps the most promising therapeutic discovery ever for a gene-based behavioral disease,” said Dr. Edward M. Scolnick, former research chief at Merck and now director of the Stanley Center for Psychiatric Research at the Broad Institute at Harvard and the Massachusetts Institute of Technology.

From Legal Intelligencer/www.law.com:

Ruling in the case of a girl who inherited Fragile X syndrome from sperm purchased through a sperm bank, a federal appeals court has concluded that the sperm bank cannot be sued for selling a defective product.

The decision by the 3rd U.S.Circuit Court of Appeals in Donovan V. Idant Laboratories said allowing such a claim under products liability law would be tantamount to recognizing a claim of “wrongful life.”

“Simply put, a cause of action brought on behalf of an infant seeking recovery for wrongful life demands a calculation of damages dependant upon a comparison between the Hobson’s choice of life in an impaired state and nonexistence,” [Judge Maryanne Trump] Barry wrote. “This comparison the law is not equipped to make.”

In court documents, Donna Donovan said she purchased sperm from Idant Laboratories in 1995 after being assured that its donors were routinely subjected to rigorous screening. Donovan’s daughter Brittany was born in 1996 and was subsequently diagnosed with Fragile X, a genetic mutation which is linked to intellectual impairment and autism spectrum disorders.

An initial decision by U.S. District Judge Thomas N. O’Neill Jr. had allowed the sperm bank to be sued under products liability law, saying that “the sale of sperm is considered a product and is subject to strict liability.”

From ABC News (with video):

Two teacher’s aides are facing felony criminal charges for allegedly abusing Montana middle school students with disabilities last year.

Witnesses have accused Julie Parish and Kristina Marie Kallies of abusing 14-year Garret Schilling, who has Fragile X syndrome and limited verbal skills, by holding his head under running water, making him eat his own vomit, and leaving him sitting in his own feces for prolonged periods.

Other families have also come forward with allegations of abuse, including one report that a girl with cerebral palsy came home with chunks of hair missing.

The aides have resigned but deny the allegations.

See also:

Great Falls educators open window on special ed in wake of abuse charges — Great Falls Tribune

Editorial: Sunshine could help reassure special-needs community — Great Falls Tribune

Attorney general won’t investigate alleged school abuse — Great Falls Tribune

Special Ed Teacher Accused of Abusing Students – [Nashville, TN] WSMV

Lawsuit claims teacher abused special needs students – Nashville Newschannel5

From the Legal Intelligencer/www.law.com:

In what is being called the first decision of its kind, a federal judge has ruled that a sperm bank may be sued under product liability laws for failing to detect that a sperm donor had a genetic mutation.

U.S. District Judge Thomas N. O’Neill Jr. ruled that a 13- year-old girl with intellectual disabilities may proceed with a suit against a New York sperm bank under the theory that the sperm used to conceive her had a genetic mutation called Fragile X, which is linked with conditions including intellectual impairment and behavioral disorders.

“Under New York law, the sale of sperm is considered a product and is subject to strict liability,” O’Neill wrote.

The ruling makes it possible for Brittany Donovan of Philadelphia to pursue claims against a New York sperm bank that sold sperm to her mother, Donna Donovan, in 1995. The lawsuit says Donna Donovan was assured by Idant Laboratories that its donors were screened to make sure they had a “good genetic background.”

From The Hill:

Representative Gregg Harper (R-Miss.), whose son has Fragile X syndrome, welcomed advocates for people with the condition to Capitol Hill last week. Their goal: To raise awareness for the condition and pressure Congress for medical research funding.

The event was attended by 130 advocates from 35 states.

“We just want to make sure that when they are slicing up the pie that Fragile X is looked at, because it hasn’t gotten as much as it needs,” said Harper, who said he is the only member of Congress who has a child with Fragile X.

He described his son Livingston as “a blessing on everybody’s life.” Nineteen-year-old Livingston goes to community college and works in a restaurant.

See also: Gregg Harper launches PSA on Fragile X syndrome – The Meridian [MS] Star

Video of the public service announcement is here.

(Photo from greggharperforcongress.com)

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.