JoAnn Olney didn't know until her daughter was 6 years old that the child was suffering from Williams syndrome, a form of mental retardation that often is marked by a "cocktail party" personality.
"They weren't able to tell us what to expect, and we didn't know how to educate her or what to look for. She started having seizures, and we didn't know why," said Olney, a resident of Providence, Cache County, and a member of the national Williams Syndrome Association.Other parents of Williams syndrome children may not be in the dark for so long, with the announcement this week that a team of scientists at the University of Utah and in Nevada has discovered the cause of this strange, but not rare, form of mental retardation. The discovery allows a quick and definitive blood test for the syndrome.
The cause of Williams syndrome was announced in the Sept. 1 issue of Nature Genetics, a premier research journal. The syndrome is caused by a missing segment of genetic material in the vicinity of the elastin gene, according to the scientists.
The team was headed by Dr. Mark Keating at the U.'s Eccles Institute of Genetics and by Dr. Colleen Morris at the University of Nevada School of Medicine.
Earlier, the group discovered that an abnormality in the elastin gene causes a rare defect that kills thousands, mostly children, via blood vessel and heart disease. The abnormality robs the walls of blood vessels of the elasticity they need to withstand the force of blood pumping through the circulatory system.
"We found evidence that the elastin gene was involved in this disorder (Williams syndrome)," Keating said in a Deseret News interview.
Some of the same problems suffered by non-retarded people with supravalvular aortic stenosis - the blood-vessel disease caused by the genetic abnormality - also plagued people with Williams syndrome.
Amanda Ewart, a graduate student in the U.'s department of genetics who worked on the project, said two families with inherited Williams syndrome, plus five spontaneous cases of that form of retardation, were checked at first. Blood samples showed that all of the affected people were missing a segment of genetic material at the elastin gene.
"Since then, we have at least 35 or 40 more cases . . . that have the (genetic) deletion also in that same area."
Keating said genetic treatment of the disorder isn't now possible. But the discovery means doctors who suspect a child may have Williams syndrome will be able to have that checked quickly through a blood test.
Early diagnosis will help to channel the child into areas in which he may have unusual strengths.
Meanwhile, researchers are continuing their work, hoping to find the way in which the developmental problem occurs.
"What we hope to learn from our ongoing studies is the molecular mechanism," Keating said.
The discovery may help illuminate the long-debated relationship between genetics and environment in development of personality. "This disorder and other disorders like it are little keys," he said.
Keating said people with Williams syndrome are gregarious and unusually deft with words. They may speak several languages, although they may not have a deep understanding of the meaning of the words. They have an average IQ of about 57.
Some are talented singers or musicians. But contrary to the common linkage between music and a mathematical ability, they don't do well with numbers.
Discussing one woman who has the syndrome, Keating said, "These people have a great deal of difficulty with what is called visual-motor control, so she would not be able to find her way around the block. But her memory for words is better than yours or mine."
To the Olneys, the discovery of the genetic abnormality is important - and so is knowing that it can occur spontaneously, as in their case.
According to a newsletter for the Williams Syndrome Association, "there are still many that have gone undiagnosed for years," JoAnn Olney said. Some of these have been misdiagnosed as mentally ill and are institutionalized, she said.
Knowing that a child has Williams syndrome can help parents to channel him into the right fields. Some of the Williams syndrome people excel in music but with most, she said, it's "just a love of music."