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Diagnosing Autism

  • A neurodevelopmental disorder that interferes with the ability to learn, communicate, and interact
  • Lack of eye contact, not taking social cues, and disinterest in interacting with others are symptoms
  • Treatment includes evidence-based applied behavioral therapies
  • Involves Child Study Center; Pediatrics

Overview

It can be upsetting to hear that your child has autism, but the picture is far more hopeful than it used to be. This is especially true when autism is diagnosed early in childhood.

“With earlier intervention and good treatments—and we increasingly have good treatments—more and more children do pretty well,” says Fred R. Volkmar, MD, a Yale Medicine Child Study Center psychiatrist.

In fact, Yale Medicine Child Study Center is a global leader in the development of new and more effective ways to help children with autism. With more than 30 years of experience treating children with autism—long before it was widely understood—our team has expertise few other programs can match.

What is autism?

Autism is a neurodevelopmental disorder that interferes with a child’s ability to communicate and interact with others, and also affects learning and behavior. 

Though scientists don’t fully understand what causes autism and related conditions (known as autism spectrum disorders, or ASD), we do know that genetic and environmental factors play a role. With rates soaring, autism has become a major health priority. Approximately one in every 59 children is diagnosed with autism spectrum disorder in the United States.

What are the symptoms of autism?

For people with autism, social interaction is challenging; their primary orientation may not be toward people. Children with autism aren’t as motivated by social cues, such as eye contact, facial expressions or words and gestures. Social smiles and laughter can be rare. They tend to be fond of repetition and sensitive to sensory information (such as touch, temperature, or noise), and often have strong fixations and unusually intense interests, such as in airplanes, bugs, or calendars.

Those differences affect how children with autism learn, not only academically, but also about their environment. Early intervention programs help equalize their opportunities, shaping learning experiences to their unique needs while also helping them adapt to the world in which they live. Early diagnosis can make all the difference, says James McPartland, PhD, a Child Study Center psychologist, and director of the Developmental Disabilities Program and the McPartland Lab. “We want to get connected to families and children so they can benefit from help as early in life as possible,” he says.

Autism affects everyone differently. Sometimes it brings intellectual challenges, but for others autism leads to exceptional talents in a particular area, such as art, music, or math. About 44 % of people with autism have average to above average intellectual abilities. 

What are early signs of autism?

Early signs of autism may include language delays and a disinterest in engaging in social interactions. “Parents may notice that the child doesn’t babble as much as other children, does not look at people, does not enjoy giving or showing things to others, or respond when their name is called,” says Katarzyna Chawarska, PhD, director of the Developmental Disabilities Infant & Toddler Program and the Yale Early Social Cognition Lab. “Some also notice that their child doesn’t seem to enjoy silly games like peek-a-boo, doesn’t laugh when the parents make funny faces, and doesn’t even seem to particularly enjoy being together.”

Most children with autism are diagnosed between the ages of 3 and 5, but Chawarska says that she is now seeing many more children at earlier ages, often before age 2. She sees this as an encouraging sign that parents are more aware of possible signs of autism and pediatricians are more responsive to their concerns. She advises parents with questions about a child’s lagging development of social or communication skills to seek an evaluation from a specialty center such as Yale Medicine’s School-Age Developmental Disabilities Program at the Child Study Center or a state agency, such as Connecticut Birth to Three. A pediatrician or specialist referral is welcome, but not necessary.

How is autism diagnosed?

At our Developmental Disabilities Clinic, autism evaluations involve two days of interviews, assessments, and examinations. The evaluation team includes a speech and language pathologist, a child psychologist, and a child and adolescent psychiatrist. Parents are encouraged to take part in the assessment and, at the end of the two days of evaluation, to meet with the team to discuss the results and how they inform the child’s education and treatment. A detailed report is produced for each child, with specific recommendations to help the family, the educators and therapists and other providers.

“Receiving a diagnosis of autism is a difficult time for a family,” McPartland says. “We try to get an understanding of the family’s perspective so we can provide the information that’s going to be most useful for them.” It is also, he says, the beginning of a relationship. “We’re not going anywhere,” he says. “We can have conversations in the future.”

“For parents of young children who are learning for the first time that their child has autism, we provide parents with extensive support in accessing treatment services for their child as well as parent support groups and parent training programs,” says Chawarska. These services help families cope with the diagnosis and develop the advocacy skills necessary for supporting their child’s emotional and educational development throughout life.

How is autism treated?

Autism treatment is always individualized to a child’s needs, including age, developmental status, and particular symptoms. “Treatment goals include increasing ability to communicate and interact with others, enhancing attentional and academic skills, and fostering adaptive skills in day-to-day settings,” Chawarska says. They also include helping children with their worries and anxieties, rigid rituals, and repetitive behaviors, and in managing their frustration. 

We specialize in the use of evidence-based behavioral therapies, including applied behavioral analysis (ABA), parent management training (PMT), and a next-generation version called Pivotal Response Treatment (PRT; link) that was pioneered at the Child Study Center.

Treatment for very young children is often play-based even though it follows the principles of the applied behavioral analysis, Chawarska says, noting that the goal is “to enhance frequency and quality of communication and to help the child realize that interacting with other people can be fun and rewarding.” Progress is reviewed regularly, and new goals are established each time a child acquires new skills.

Some children with autism may also take medication to help with particular symptoms (such as seizures, attention problems or anxiety).

What makes Yale Medicine’s approach to autism unique?

The Child Study Center is a global leader in the development of new and more effective ways to help children with autism. “We are recognized around the world for having clinicians who are trained specifically in working with children and families with autism,” McPartland says. He adds that with more than 30 years of experience, our Developmental Disabilities Clinic has been focused on autism research and treatment since before its importance was widely understood.

Years of developing expertise and longstanding relationships with people who have autism provide us with a perspective that few other treatment programs can match. Dr. Volkmar, who has written the practice guidelines on the care of children with autism and their families for the American Academy of Child and Adolescent Psychiatry, says he has been treating some of his patients since the 1950s.

“We’ve been at the forefront of clinical research,” says Dr. Volkmar, noting that Yale’s treatment philosophy emphasizes integrating new research findings into clinical practice so patients can immediately benefit. Right now he is particularly excited about new research into genetic findings that may someday lead to drug treatments for autism.

This collaborative relationship between the lab and clinic is of great benefit to researchers, patients, and families, says Chawarska. With many federally and privately financed projects focused on screening and early diagnostic procedures for autism, Yale researchers continue to expand understanding of the disorder and offer treatment approaches not available elsewhere. “As researchers, the ability to work on a daily basis with patients reminds us what the most important questions are,” Chawarska says. “We are inspired every day by the families and the children we work with. The result is that rather than just treating the symptoms, we’re treating what causes them.”