What is autism spectrum disorder
Photo credit: Istock

According to the Centers for Disease Control and Prevention, one of every 68 children born in the United States has autism spectrum disorder (ASD). Though all races, ethnicities and socioeconomic groups are affected by ASD, myths and misunderstandings still persist in media, schools and workplaces — that childhood vaccines are a cause has been disproved, yet the rumor refuses to die. April is World Autism Awareness month, so we spoke with Dr. Joseph Buxbaum, a molecular geneticist and neurobiologist who directs the Seaver Autism Center for Research and Treatment at Mount Sinai Health System, to separate fact from fiction.

 

What is autism spectrum disorder?

 

Autism spectrum disorder is a complex developmental disorder affecting brain development. ASD is characterized by difficulties in social interaction, deficits in verbal and nonverbal communication and the presence of restricted or repetitive behaviors, including sensory symptoms. A diagnosis of ASD now encompasses several conditions that previously were diagnosed separately: autistic disorder, pervasive developmental disorder and Asperger syndrome.

 

The severity and presentation of symptoms vary across individuals. ASD is about four times more common among boys than girls. Due to increased public awareness, improved diagnostic tools and research in this area, more cases are identified and at younger ages. Early diagnosis is important because it can lead to earlier treatment, which research has linked to more positive outcomes. 

 

How is autism diagnosed?

 

ASD diagnoses are made based on observed behavior, developmental history and autism-specific assessment tools. There is no medical test for autism.

What causes autism spectrum disorder? Vaccines are definitely not linked to it, correct?

There is strong data indicating that genetics are a predominant cause of autism. There are numerous, very compelling epidemiological studies that have clearly disproven any connection between autism and vaccines. One of the primary missions of the Seaver Autism Center is to investigate causes of autism. We take a genetics-first approach to this investigation. We expect there to be about 1,000 genes in the human genome for autism. ... The Seaver Center is also exploring possible epidemiological causes. A number of studies focus on identifying nongenetic factors that contribute to autism risk, including planned vs. emergency Caesarean sections and Apgar score at birth, and studying how such factors interact with genetic processes to determine risk for autism.

How is it treated? Are there medications to manage behavior? Can it be managed without medication?

While there is no cure for ASD, specific interventions can make a considerable difference. These interventions should be tailored to each individual’s needs, and may include both behavioral and pharmacological interventions. Typically, the first line of treatment is behavioral. Medications can be used to help with associated symptoms such as irritability, anxiety or hyperactivity.

If you are concerned that your child is exhibiting signs of ASD, the first step is a conversation with your child’s pediatrician. The American Academy of Pediatrics recommends all children be screened for autism at their 18-month and 24-month checkups. If there are concerns, your pediatrician should refer you to an autism specialist (such as a child psychiatrist or psychologist, developmental pediatrician or pediatric neurologist) for a more extensive evaluation. An evaluation conducted by a multidisciplinary team (including a speech therapist, occupational therapist, and physical therapist) may also be beneficial for treatment planning. In addition to an autism-specific evaluation, a hearing test and lead screening should be conducted.

What are some common misconceptions people have about ASD and people who have it?

That social motivation is lacking. Many individuals with ASD do have a desire for social interaction, but often require support to develop the skills necessary to successfully initiate and maintain social relationships. There are also misconceptions about the cognitive ability of individuals with ASD. Cognitive profiles vary widely across individuals, and uneven skills are common. For example, some individuals with ASD display areas of strength.

What else should people know about ASD?

It is important to keep in mind that despite areas of difficulty, individuals with ASD all present with areas of personal strength. Importantly, people are not defined by their diagnosis. All people with ASD have their own thoughts and feelings, which may be expressed in a variety of ways. Researchers are continually working to understand the underlying biology of ASD and to develop treatments targeting both core and associated symptoms.

For more information, visit seaverautismcenter.org