Boy's DNA Leads Scientists to Source of Speech Problem
CBC New Brunswick
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Alberta (Canada):
The DNA of a nine-year-old boy in northern Alberta may hold the key to understanding a mysterious condition that robs people of the ability to speak.
Kyle Pilkey of High Prairie, Alta., can't use words to communicate. No one knows why. He was labelled with attention-deficit disorder, Tourette's syndrome and autism, but none of the conditions fit.
"What do we have to do, what do we need to do to prepare him for the real world?" asked Kyle's father, Wayne Pilkey.
In Thursday's issue of the New England Journal of Medicine, geneticist Martin Somerville at the Stollery Children's Hospital in Edmonton, identifies Kyle as the first genetically diagnosed case of a yet-unnamed condition.
"When we looked at the signal we realized what it was," said Somerville. "We realized that in fact at the genetic level that what we had was the opposite of Williams syndrome."
Williams syndrome is a genetic condition affecting nearly one million people who are missing a string of DNA. As a result, they have a gift for language, but poor spatial and drawing abilities.
Kyle has extra DNA in the same place on chromosome 7 and shows symptoms that are the opposite of Williams syndrome. Based on the frequency of Williams syndrome, Somerville and his colleagues believe the genetic flaw may affect up to 4,000 Canadians who, like Kyle, may be misdiagnosed and perhaps institutionalized.
"Having a name and having a reason can have a huge impact on a family and make them feel much more comfortable with a child's diagnosis," said Lucy Osborne, a specialist in Williams syndrome at the University of Toronto who is now searching for others with the new condition.
Now that the Pilkey family knows, they can begin treatments that are best for Kyle. He is learning sign language and is working on his writing skills.
Oct 20, 2005
CBC New Brunswick
_______________
Alberta (Canada):
The DNA of a nine-year-old boy in northern Alberta may hold the key to understanding a mysterious condition that robs people of the ability to speak.
Kyle Pilkey of High Prairie, Alta., can't use words to communicate. No one knows why. He was labelled with attention-deficit disorder, Tourette's syndrome and autism, but none of the conditions fit.
"What do we have to do, what do we need to do to prepare him for the real world?" asked Kyle's father, Wayne Pilkey.
In Thursday's issue of the New England Journal of Medicine, geneticist Martin Somerville at the Stollery Children's Hospital in Edmonton, identifies Kyle as the first genetically diagnosed case of a yet-unnamed condition.
"When we looked at the signal we realized what it was," said Somerville. "We realized that in fact at the genetic level that what we had was the opposite of Williams syndrome."
Williams syndrome is a genetic condition affecting nearly one million people who are missing a string of DNA. As a result, they have a gift for language, but poor spatial and drawing abilities.
Kyle has extra DNA in the same place on chromosome 7 and shows symptoms that are the opposite of Williams syndrome. Based on the frequency of Williams syndrome, Somerville and his colleagues believe the genetic flaw may affect up to 4,000 Canadians who, like Kyle, may be misdiagnosed and perhaps institutionalized.
"Having a name and having a reason can have a huge impact on a family and make them feel much more comfortable with a child's diagnosis," said Lucy Osborne, a specialist in Williams syndrome at the University of Toronto who is now searching for others with the new condition.
Now that the Pilkey family knows, they can begin treatments that are best for Kyle. He is learning sign language and is working on his writing skills.
Oct 20, 2005
