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Uncovering autism: a look into the difficult diagnosis of a puzzling disorder

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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of Paulsboro, NJ, prepared for her son Joey's second birthday party, she noticed that he began to seem distant and withdrawn.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 express needs."

For more information or to schedule an appointment, call 1-888-Virtua-3.


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.