Fourteen years ago, Eric Hollander was one of the psychiatrists who founded the Seaver and New York Autism Center of Excellence at the Mount Sinai School of Medicine to offer specialized care for autism patients and conduct cutting-edge research on the disease.
The big story
April is Autism Awareness Month and a good time to provide the public an overview of a disease that affects one in 150 individuals in the United States.
Who's at risk
Siblings of autistic children seem at higher risk, because autism sometimes runs in families. Recent research suggests that fathers above age 40 are at higher risk of having children with autism, and that birth-related complications and in vitro fertilization may also increase risks for autism.
Children at highest risk are those who fail to develop by certain milestones: those who don't respond when you call their name, who don't share interest in things with others, who have lots of early rituals and routines, and those who fail to develop language.
The demographic group at highest risk is boys. Autism studies show a 4-to-1 ratio of males to females.
"It's not fully known why," says Hollander, though some have suggested that autism is an extreme form of brain function in males. "At a young age, girls are empathizers, more interested in looking people in the eye and responding to social signals," Hollander explains. "Little boys tend to be systemizers who look out and put the world into certain organized patterns."
Signs and symptoms
Currently there isn't a medical test for autism; screening is done through a combination of observing behavior and educational and psychological testing.
Doctors have developed a standard for diagnosis. Before the age of 3, an autistic child must show substantial impairment in the three core symptom domains: profound social deficits, language-based problems, and narrow interests and repetitive behaviors.
Some of autism's associated symptoms include EEG abnormality (seizures), mood swings or irritability, aggression, self-injury, inattention and elements of attention deficit hyperactivity disorder.
Autism can vary greatly from person to person. "Some patients with Asperger's syndrome (an autism spectrum disorder) have a high IQ and language facility," says Hollander, "while other people with autism may have mental retardation and severe deficits in language."
"We usually don't talk about cure," says Hollander of the disease, "but we can help people function and reduce their distress."
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Doctors have a wide variety of treatments that can help make the symptoms of autism more manageable. "It's important to get not a single treatment but a package of treatments," says Hollander. "People do best if they can get the right educational setting, the right medicine and social skills coaching." The standard treatments include early intervention, behavioral approaches, educational approaches like specialized schools, social training and support groups that help autistic individuals, their parents and siblings.
Doctors have also made strides in developing medicines. "We're figuring out ways to help patients with social cognition, which allows them to recognize emotion and interact more efficiently with other individuals."
These medicines don't eradicate autism, but "they can decrease overall distress and improve functioning."
There's great variability in what autism patients can do. Some hold important jobs, because they have great math skills for example, but others function at a much lower level. "It's hard for people with autism to live independently, but we try to help them do so as much as possible."
At Mount Sinai, investigators found that several genes contribute to put individuals at higher risk for autism. On the treatment side, researchers are developing medicines that reduce disruptive behavior or help people better understand social interactions. Some of this knowledge comes from observations in animals. For instance, "[the hormone] oxytocin seems to determine social bonding in animals," explains Hollander, "and we're looking to apply this knowledge to humans."
Questions for your doctor
The first question is, "Have you screened my child for developmental delay?" Hollander is a strong advocate for regular and comprehensive screening: "Every child should be screened twice by age 2, even if they're not showing symptoms."
Some parents wonder: "Is autism caused by vaccinations?" Most studies show that vaccines aren't an important factor.
When a child is diagnosed with autism, Hollander advises parents to ask a trio of questions: "What are the other alternatives? What are the peaks and valleys, strengths and weaknesses, of my child? What's the evidence that this particular treatment will work for a child with my child's symptoms?" There isn't only one way to treat autism, and your child may need to try more than one treatment before he or she finds the right one.
Get a diagnosis. "If there's a delay in the child's development," says Dr. Eric Hollander, "the parents must advocate for the right evaluation."
Get information - and get connected. "Advocacy groups like Autism Speaks [autismspeaks. org] have increased awareness, raised money for research and connected families with the resources," says Hollander. He also recommends parents check the autism pages available through the National Institute of Mental Health (www.nimh.nih.org).
See experts in autism and receive specialized treatment. Autism Speaks has a Family Services directory that allows you to search for specialists by zip code and to find clinical trials.
* Take the long view. "A lot of parents get caught up in this whirlwind that they have to do everything immediately," says Hollander, "but it is a developmental process, and parents have to see this as a long-term proposition. Parents have to try to take care of themselves as well, and keep some sort of general balance."
By the numbers
1 in 150 children have autism
1% of boys have autism
Autism symptoms manifest before the age of 3
Autism's ratio of boys to girls: 4-to-1
The CDC estimates that 560,000 children under 21 have a form of autism