New studies highlight variations in symptoms, genetic makeup
With four to five times more males affected by autism spectrum disorders than females, much less is known about girls with autism.
With four to five times more males affected by autism spectrum disorders than females, much less is known about girls with autism.
Fortunately, more research is beginning to focus on autism in
girls, said Geraldine Dawson, chief science officer of Autism Speaks,
with two such studies set to be presented Saturday at the International
Meeting for Autism Research in San Sebastian, Spain.
"Autism
affects boys much more frequently than girls. But, we may be missing
some girls. The diagnostic criteria were developed using symptoms in
boys, and symptoms in girls and boys may be different," Dawson
explained.
"Because of this difference in incidence, researchers
may end up with a small number of girls in studies," she said, adding
that differences in symptoms or reactions to treatments may lead to the
girls' data being excluded from studies. But, it's just those
differences that may really need to be researched, to make sure girls
are being diagnosed and treated correctly.
"Other
neuropsychiatric disorders have already made the discovery that symptoms
can be different in girls and may require different treatments for
girls," said Dawson, who is also a research professor in the department
of psychiatry at the University of North Carolina, Chapel Hill. One
such example is attention-deficit/hyperactivity disorder. Girls tend to
be less hyperactive than boys, and may instead appear as if they're
daydreaming.
In the latest autism research, the first study
compared visual scanning patterns in boys and girls with autism spectrum
disorders. Scanning patterns were also collected for typically
developing children.
"We used eye-tracking technology while the
participants in these studies watched videotapes of social scenes that
presented naturalistic stimuli," said study co-author Ami Klin,
director of the Marcus Autism Center, in Atlanta.
The study, which
was led by Klin's student, Jennifer Moriuchi, included 116 school-aged
children with autism spectrum disorders. Eighty-one were boys and 35
were girls. The children with autism had varying degrees of social
disability. The study also included 36 typically developing children.
"On
a surface level, it appears that boys and girls with autism appear to
spend equal time learning from the eyes. They did look less than other
children," Klin said. But, when the researchers correlated the
youngsters' eye tracking with their level of disability, a much
different picture emerged.
"In boys, the more they looked at the
eyes, the less socially disabled they are. In girls, the more they
looked at the eyes, the more disabled they are," said Klin, chief of the
division of autism and related disorders at Emory University School of
Medicine and Children's Healthcare of Atlanta.
"What the study is
suggesting is that we should not automatically assume that boys and
girls learn about the world in the same way," Klin said, adding, "we
have to take gender as a mediating factor."
Dawson said "the study
found that there are differences in the way girls and boys look at the
eyes, so there may be differences in the way autism is manifested in
girls than in boys." She noted that an important criterion right now for
diagnosing autism is a lack of eye contact and using the eyes for
social cues.
The second study looked at the genetics involved in
autism, and potential differences in boys and girls. Yale University
researchers analyzed samples from 2,326 families. Included in those
samples were those of 2,017 boys and 309 girls with an autism spectrum
disorder.
The Yale team found differences between the boys' and girls' genetic samples.
"The
fact that autism does affect boys so much more frequently has been
staring us in the face for decades. There's been a hypothesis that
there's something in the extra X chromosome that girls have that may be
protective," Dawson explained. "The idea is that if you have this
protective mechanism in place you may need more risk factors to
overwhelm that protective effect and cause autism, and that's exactly
what they found."
"To develop autism in a girl requires more
genetic mutations," Dawson said. The type of mutations they found are
called "de novo" mutations, she added. This means that the genetic
change occurs in the sperm or the egg. It isn't a gene that's passed
down from the parents. These mutations can occur randomly, or they can
be caused by an environmental trigger.
Because these studies are being presented at a medical meeting, the data
and conclusions should be viewed as preliminary until published in a
peer-reviewed journal.
Source : US NEWS HEALTH , 1st May 2013
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