Archives for the month of: September, 2008

In the past year, researchers have debuted a growing number of mouse models that they say exhibit the subtle behaviors of autism. In the midst of controversy over whether these mouse models represent autism, one team of scientists is looking for quirks in the animalsʼ neural circuits.

In October 2007, a high-profile report unveiled mice that carry a mutation in neuroligin-3, which has been associated with autism in people. Since then, about a dozen other models have been proposed, showcasing a grab bag of genetic mutations: some are pivotal players in the development of nerve cell axons, others in synapse formation. One mutation, PTEN, has a strong role in cancer.

As the list of candidate genes for autism grows, experts estimate that at least 30 mouse models of autism will surface within the next couple of years.

“With all of these models, the question now becomes: What do you do once you have the mouse?” asks neurophysiologist Tony Zador of Cold Spring Harbor Laboratory (CSHL).

Read more at…

SFARI, September 2008.

Researchers in Minneapolis and Sweden are investigating reports of so-called autism clusters among children from immigrant Somali populations. Some scientists say the clusters may be the result of a vitamin D deficiency ― a largely untested hypothesis.

A report from Swedish neurologists, published on 1 August, says the prevalence of autism spectrum disorders in Somali children aged 7 to 17 years in Stockholm is nearly four times higher than in non-Somali children.

In Minneapolis, Somalis account for 6 percent of the cityʼs public school population, but make up 17 percent of early childhood special education students who have been labeled autistic, according to data aggregated by the Minneapolis Public Schools.

Epidemiologists are generally skeptical of disease clusters, and this one is no exception.

“Those numbers are strikingly different, but it’s not really an appropriate comparison,” says Judy Punyko, an epidemiologist at the Minnesota Department of Health.

Read more at…

SFARI, September 2008.

In the fall of 2006, Liz and Peter Bell started to notice behavioral and neurological regression in their 13-year-old son, Tyler.

His symptoms quickly progressed from what his parents thought was typical teenage sluggishness to full-blown catatonia. One morning, his mother started the shower for him and then went to help the other children get ready. “When I came back ten minutes later he was still standing there, shivering, hadnʼt even reached for the towel,” she recalls.

Tyler had been diagnosed with autism ten years earlier, but till then, he had still had strong motor abilities, even going on 20-mile bicycle rides with his family. Those skills disappeared over the course of a few months.

By the spring of 2007, Tyler wasnʼt eating or talking much, and his right foot dragged across the ground when he walked. He “looked very Parkinsonian,” she says.

Trying to make sense of Tylerʼs sudden deterioration, his neurologist in Sacramento, Michael Chez, gave him a complete medical work-up ― including a spinal tap to collect a sample of cerebrospinal fluid.

Read more at…

SFARI, September 2008.

Chris Young, a former computer help-desk technician living in Denver, woke up one morning in June 2004 barely able to move the right side of his body. He felt spasms in the muscles between his ribs and a painful squeezing in his torso. When he tried to walk, he had trouble lifting his right foot. “I was scared out of my mind,” he recalls. A few days later, an MRI scan confirmed what Young already suspected from looking up his symptoms on the Internet: He had multiple sclerosis (MS), a chronic disease in which the body attacks its own nerve fibers. The day of the diagnosis was his 29th birthday.

As his symptoms worsened over the next few years, Young frequently visited Internet forums for MS patients. In October 2007, a forum member described a new clinical trial at Johns Hopkins: Researchers would be testing cyclophosphamide, a chemotherapy drug ordinarily used to treat cancer, on patients with severe MS symptoms. By now Young had tried every known MS drug and nothing had helped. “I was dropping like a rock at that point,” Young says. “So I figured, what have I got to lose?” He called the clinical trial’s sponsor, Hopkins neurologist Doug Kerr, and was accepted for the study. On March 13, he was wheeled into Johns Hopkins Hospital to begin four days of intense chemotherapy.

Read more at…

Johns Hopkins Magazine, September 2008.