Like a lot of children with autism, Noah Hrynewych detests
change. As a toddler, he had to carry the same spoon and spatula
every day. Just one second's interruption to a favorite video
unglued him. Wearing a striped engineer's cap, even to bed, was
mandatory.
"Any break in his routine or any interruption gave him so much
anxiety," said Sherry Mergner Hrynewych, Noah's mother.
Something good may come from such struggles. Recently Duke Center
for Human Genetics scientists identified a stretch of DNA that could
contain important autism-related genes. They did it after focusing
research on families coping with the type of behaviors that grip
Noah.
The research approach merges new genetic science with clinical
knowledge acquired over generations. And it could help scientists
better track genes involved in many complex illnesses, such as heart
disease, Alzheimer's disease, even diabetes.
"We need to maximize the clinical data we've collected. Maybe
then we can crack the complex disorders we are trying to get a
handle on," said Margaret Pericak-Vance, director of the genetics
center.
In the case of autism, which probably has genetic roots, doctors
and therapists have long observed that people with the developmental
disorder have trouble communicating and otherwise interacting. They
also can display unusual behaviors. One is the resistance to change
that experts call "insistence on sameness."
In the Duke study, the researchers used statistical tools to
organize people with different types of behaviors into subgroups,
including those who resist change. When they looked closely at a
stretch of DNA on chromosome 15 in that group's blood samples, they
found missing pieces and other distinctions. That chromosome long
has been suspected as important in developmental ailments.
In time, researchers hope to zero in on significant genes on the
chromosome. If they do, they may be able to provide information
useful for developing new medicines or therapies to compensate for
what goes awry among the autistic on the molecular level.
"It's not all about science. We would hope there may be
implications for treatment down the line," said Michael Cuccaro, a
clinical psychologist working at the center who diagnoses and treats
children with autism.
The Hrynewyches don't expect any big breakthrough tomorrow.
"It's going to take a long time," Bohdan Hrynewych said, "for all
those strands to come together."