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Researchers
from all over the world are devoting considerable
time and energy into finding the answer to this
critical question. Medical researchers are exploring
different explanations for the various forms of
autism. Although a single specific cause of autism
is not known, current research links autism to
biological or neurological differences in the
brain. In many families there appears to be a
pattern of autism or related disabilities- which
suggests there is a genetic basis to the disorder-although
at this time no gene has been directly linked
to autism. The genetic basis is believed by researchers
to be highly complex, probably involving several
genes in combination.
Several outdated theories about the cause of autism
have been proven to be false. Autism is not a
mental illness. Children with autism are not unruly
kids who choose not to behave. Bad parenting does
not cause autism. Furthermore, no known psychological
factors in the development of the child have been
shown to cause autism.
How is Autism Diagnosed?
There are no medical tests for diagnosing autism.
An accurate diagnosis must be based on observation
of the individual's communication, behavior, and
developmental levels. However, because many of
the behaviors associated with autism are shared
by other disorders, various medical tests may
be ordered to rule out or identify other possible
causes of the symptoms being exhibited.
Since the characteristics of the disorder vary
so much, ideally a child should be evaluated by
a multidisciplinary team which may include a neurologist,
psychologist, developmental pediatrician, speech/language
therapist, learning consultant, or another professional
knowledgeable about autism. Diagnosis is difficult
for a practitioner with limited training or exposure
to autism. Sometimes, well-meaning professionals
have misdiagnosed autism. Difficulties in the
recognition and acknowledgment of autism often
lead to a lack of services to meet the complex
needs of individuals with autism.
A brief observation in a single setting cannot
present a true picture of an individual's abilities
and behaviors. Parental (and other caregivers')
input and developmental history are very important
components of making an accurate diagnosis. At
first glance, some persons with autism may appear
to have mental retardation, a behavior disorder,
and problems with hearing, or even odd and eccentric
behavior.
To complicate matters further, these conditions
can co-occur with autism. However, it is important
to distinguish autism from other conditions, since
an accurate diagnosis and early identification
can provide the basis for building an appropriate
and effective educational and treatment program.
Sometimes professionals who are not knowledgeable
about the needs and opportunities for early intervention
in autism do not offer an autism diagnosis even
if it is appropriate. This hesitation may be due
to a misguided wish to spare the family. Unfortunately,
this too can lead to failure to obtain appropriate
services for the child.
Specific behaviors seen in infants can predict
autism, new research shows
Canadian researchers have become the first to
pinpoint specific behavioral signs in infants
as young as 12 months that can predict, with remarkable
accuracy, whether a child will develop autism.
The preliminary findings, published this month
in the International Journal of Developmental
Neuroscience, were taken from an ongoing study
of 200 Canadian infants, the largest study of
its kind in the world. The infants, many of whom
have been followed from birth to 24 months, are
younger siblings of children who have been diagnosed
with autism.
Studies show that families with one autistic
child have a roughly five to10 percent chance
of a second child being diagnosed with autism,
a rate of recurrence about 50 times higher than
the general population.
The Canadian study, which began as a collaboration
of McMaster University's Offord Centre for Child
Studies in Hamilton, The Hospital for Sick Children
in Toronto and the IWK Health Centre in Halifax,
has gained international attention. Initially
funded by The Hospital for Sick Children Foundation,
and currently by the Canadian Institutes of Health
Research (CIHR), it has mushroomed into a global
initiative involving leading autism researchers
in 14 cities across Canada and the U.S.
Chaired by Lonnie Zwaigenbaum, a developmental
pediatrician with the Offord Centre and McMaster
Children's Hospital and a lead investigator for
the Canadian study, the Canada - U.S. Baby Sibs
Research Consortium is supported by the National
Alliance for Autism Research (NAAR) and the National
Institute of Child Health and Human Development
(NICHD) in the U.S. It is widely regarded as one
the most exciting developments in autism research
today.
"This is groundbreaking work that is pushing
the frontier of what we know about the biological
nature of autism, and why it emerges so early
in life," says Dr. Zwaigenbaum. "Our
hope is that it will lead to the development of
new and earlier treatments that could make a huge
difference for these children."
Second only to mental retardation as the most
common developmental disability, autism forms
part of a spectrum of related disorders referred
to as the autism spectrum disorders (ASDs). Although
symptoms can range from mild to severe, those
affected typically exhibit severe impairments
in social interaction and communication, and engage
in repetitive, solitary activities.
The complex nature of the disorder makes it difficult
to diagnose. In the absence of any biological
marker, clinicians have been typically forced
to rely on parental reports, home videos and direct
observations of behavior, using standardized tools
like the Checklist for Autism in Toddlers (CHAT).
But these tools were designed for children 18
months and older; there has been no instrument
to measure autistic behaviors in young infants.
So the Canadian researchers designed their own.
Led by Susan Bryson, Craig Chair in Autism Research
at the IWK Health Centre/Dalhousie University,
and co-lead investigator for the study, they developed
the Autism Observation Scale for Infants (AOSI).
The scale maps the development of infants as young
as six months against 16 specific risk markers
for autism, including such behaviors such as not
smiling in response to the smiles of others or
not responding when one's name is called.
"The predictive power of these markers is
remarkable", says Dr. Zwaigenbaum. "We
are finding that within this high-risk group of
siblings, almost all of the children who are diagnosed
with autism by age two years have seven or more
of these markers by the time they are a year old."
The researchers found that even at six months
of age there were certain behaviors that distinguished
those siblings later diagnosed with autism from
other siblings. These included a passive temperament
and decreased activity level at age six months,
followed by extreme irritability, a tendency to
fixate on objects, reduced social interaction
and lack of facial expression as they approached
the age of 12 months. At one year, these same
children also showed difficulties with language
and communication - they used fewer gestures,
understood fewer phrases and had lower scores
for both expressive and receptive language.
It is not known whether these risk markers constitute
an early manifestation of the disorder, or are
behaviors that reduce the child's opportunities
to learn from social experiences, thereby contributing
to a pattern of development that may lead to autism.
Still, the results shed new light on when autism
starts and how early it can be detected.
"This is an important breakthrough in our
understanding of the initial behavioral signs
of autism," says Peter Szatmari, Director
of the Offord Centre and a member of the Canadian
research team. "By identifying these signs
in children as soon as they are detectable, clinicians
will be able to diagnose earlier, interventions
can begin earlier, and we can improve the long-term
outcomes for these children."
Jessica Brian, who with Wendy Roberts is one
of two investigators at The Hospital for Sick
Children working on the study, has already developed
and begun to evaluate innovative interventions
for infants showing early signs.
John Kelton, dean and vice-president of McMaster's
Faculty of Health Sciences, said: "This is
an important step forward. The team at the Offord
Centre is making a real difference towards better
care for children and families affected by autism."
The Offord Centre for Child Studies at McMaster
University is an internationally recognized centre
of research focused on early child development.
The Centre is affiliated with the McMaster Children's
Hospital, Hamilton Health Sciences. For more information,
go to www.offordcentre.com
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