Uncovering autism: a look into the difficult diagnosis of a puzzling disorder
As Melissa Price of Paulsboro, NJ,
prepared for her son Joey's second
birthday party, she noticed that he
began to seem distant and withdrawn.
And on the day that should have
been a celebration, her chipper little
boy, who had started talking at only
10 months, suddenly stopped.
Melissa immediately called her pediatrician and,
within a few days, her son was tested by a neurologist.
For the next eight years, she and her husband searched
for a clear diagnosis. It wasn't until they met Virtua
psychiatrist, James Varrell, MD, that they finally got
the answers and the support their family needed.
Dr. Varrell diagnosed Joey with autism and began
working with the Prices to find the right medications
and services to best support him.
Why is autism hard to diagnose?
The Price family's long search for a diagnosis is
common with autism spectrum disorders (ASDs) -
now affecting an estimated one in 150 US children.
While all are characterized by varying degrees of
impairment in communication skills, social interactions,
and behaviors, the specific symptoms vary
widely from child to child.
Classic autism - characterized by impaired verbal
and nonverbal communication as well as restrictive,
repetitive, and stereotypical behaviors and interests -
is the most severe form of ASD. There are other
symptoms too. Like Joey Price, 65 percent have sleep
disturbances; 25 percent have seizure disorders; and
40 percent have gastrointestinal symptoms. Two-thirds
are also at least mildly mentally retarded, and many
have sensory issues that affect hearing, sight, smell,
touch and taste.
At the other end of the spectrum is Asperger's syndrome,
often referred to as high-functioning autism.
Asperger's includes classic symptoms such as failure
to develop nonverbal communication skills, lack of
social skills, strict adherence to routine, and repetitive
behaviors. However, children with Asperger's show no
delay in language or cognitive development, self-help
skills, or curiosity about their environment.
How ASDs are diagnosed
When evaluating children for autism, Dr. Varrell
completes a range of tests including developmental
and family histories, metabolic screenings, and
genetic and imaging tests. Specially trained staff
also complete a diagnostic assessment that includes
observing children for eye contact, verbal and nonverbal
communication, imagination during play, and
appropriate use of toys and books. This assessment
is a gold standard for diagnosing autism.
Many children with autism are diagnosed by age 3.
"Children with Asperger's syndrome, however, are usually diagnosed later," explains Dr. Varrell. "Often,
their specific symptoms aren't noticeable until they
begin school. I call these children little professors.
They're very smart, and can tell you all kinds of
facts, but they often lack the ability to make friends
or carry on social conversations."
Early intervention and continued support
ASD can be a difficult and disruptive disorder for
children and their families. "A key feature of autism
is a lack of social connection and communication,"
explains Dr. Varrell. "As parents, we all want to have
that close, loving bond with our children, and this
makes it very hard on families."
In addition, the lack of distinguishing physical
impairments in many children with ASD can lead
to difficulties in getting others to understand the
disorder. "Joey has screaming fits at times in public,"
explains Price. "I get looks from people like, 'Why
can't you control your kid?'"
The good news is that autism awareness is increasing
and so is the support for those affected by it. Public
schools are required to develop individualized education
plans (IEPs) for children with special needs. An
IEP is an agreement between the school and the family
that establishes goals for each child and the best way
to reach those goals.
For Joey, this means learning to use an electronic
device to communicate about his basic needs.While
progress is slow, Price hopes that Joey will continue
to learn more complex communications.
For children with Asperger's, educational assistance
may come in the form of a special school, an autistic
support classroom, a classroom aide in mainstream
classes, and social skills groups.
Most experts agree the best way to reach children
with ASDs and give them the support they need is
through early intervention. Through Virtua's Early
Intervention Program (EIP), children up to age 3
with ASDs and other developmental delays receive
physical, occupational and speech therapy as well as
educational and social support. Based on each child's
specific needs, the program builds a plan to help
families identify learning opportunities and incorporate
therapeutic activities into daily routines.
"Our primary focus is social-skill development,
and we work hard to find the specific activities that
motivate each child," explains Corrie Skuya, a certified
special education teacher and behavior therapist
with Virtua's EIP. "We also work on communication,
gesturing to make requests, and using words to
For more information or to schedule an appointment,
James Varrell, MD, is a board-certified specialist in both child and adult psychiatry
and neurology and is one of the area's leading experts on autism spectrum disorders. He
presents regularly at schools, parent organizations, and medical conferences. Dr. Varrell
earned his medical degree from Rutgers Medical School in Piscataway, NJ, and completed a
residency in psychiatry at the Hospital of the University of Pennsylvania. He also completed
a fellowship in and served as chief resident of child and adolescent psychiatry at the
Philadelphia Child Guidance Center.