Autism spectrum disorder is a developmental disability. People on the autism spectrum have varied abilities and support needs. Some may have advanced conversation skills and can live with minimal support, whereas others may use few to no words and require 24/7 care.
Autism has been in the headlines recently. On Monday, September 22, the U.S. Food and Drug Administration (FDA) took two steps that drew widespread interest and prompted criticism from a number of medical and science organizations.
- The agency alerted physicians that the use of acetaminophen, the active ingredient in the pain reliever Tylenol and other generic medications, by pregnant women may be associated with an increased risk of neuropsychiatric conditions, including autism. The FDA said clinicians should consider minimizing the use of acetaminophen during pregnancy for routine low-grade fevers, which is already the existing guidance.
- The agency took steps to make it easier for clinicians to prescribe an older medication, leucovorin, or folinic acid (a naturally occurring form of vitamin B9), to treat children with autism.
The actions by the federal government prompted many to seek answers. Here are answers to some of the most frequently asked questions from experts at the Icahn School of Medicine at Mount Sinai: Joseph Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment; Joanne Stone, MD, Chair of Obstetrics, Gynecology and Reproductive Science; Lisa Satlin, MD, Chair of Pediatrics; and Alex Kolevzon, MD, Chief, Division of Child and Adolescent Psychiatry.
How common is autism?
The rate of autism in children increased over recent years and is now estimated to be 1 in 31, according to the latest monitoring data released in April by the U.S. Centers for Disease Control and Prevention. The survey was conducted in 2022 across 16 sites in the United States, and cases were identified based on school and medical records. Autism occurs among all racial, ethnic, and socioeconomic groups. It is three times more common among boys than among girls. Experts say a number of factors have contributed to a rising rate of autism, including expanded criteria for diagnosis, greater awareness, and improved screening and diagnostics.
What causes autism?
There are strong data indicating that genetics are the major cause of autism. However, not all genetic risk is inherited; some genetic changes leading to autism occur as spontaneous mutations in the egg or sperm, according to Mount Sinai’s Seaver Autism Center for Research and Treatment. Experts also believe some environmental factors may be involved.
What do you advise women about using acetaminophen during pregnancy?
The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine continue to recommend acetaminophen as one of the safest options for treating pain and reducing fever during pregnancy when used as directed and emphasize that pregnant patients should always discuss any medication use with their clinicians. The FDA says acetaminophen is the safest over-the-counter alternative for pregnant women. It is also well documented that an untreated high fever in a pregnant woman increases the risk of birth defects and premature birth, and there is some suggestive evidence that fever in a pregnant woman may also be associated with an increased risk for autism in the child.
Did a recent Mount Sinai study demonstrate a connection between acetaminophen and autism?
Researchers at the Icahn School of Medicine at Mount Sinai, together with national collaborators, published a systematic review in BMC Environmental Health examining the use of acetaminophen during pregnancy. The research applied a rigorous framework for evaluating environmental health data and analyzed 46 studies involving more than 100,000 participants worldwide. The study found an association, but not a causal link, between prenatal acetaminophen exposure and an increased risk of autism spectrum disorder and attention-deficit/hyperactivity disorder in children. As the authors note, these do not prove that acetaminophen use during pregnancy causes these conditions. In fact, several large studies, including one that came out after the BMC Environmental Health study, indicate that acetaminophen does not cause these conditions and that there is likely a shared relationship between the reason acetaminophen is taken and the risk for behavioral outcomes in the child (for example, fever). Careful clinicians and researchers will continue research to optimize management of pain and fever during pregnancy using current or future medications but results to date do not demonstrate a causal relationship.
Can you explain the difference between association and causality?
Association is when two things happen at the same time, but one doesn’t necessarily cause the other. In a very simple example, more people eat ice cream in the summer, and more people get sunburns in the summer, but that doesn’t prove ice cream causes sunburns. There is an independent cause for both more sunburns and more ice cream in the summer: both are due to the warmer weather. In the case of autism, here is an example cited by the Autism Science Foundation: Women take acetaminophen when they are pregnant to reduce fever. Fever during pregnancy is a known autism risk factor. But this question remains unanswered: Could an increase in autism be due to the fever or the acetaminophen? At least one study showed that fever during pregnancy indeed increased risk for autism and that risk was significantly reduced when the mother took acetaminophen.
What are the treatments for autism?
The Seaver Autism Center for Research and Treatment says treatments include intensive behavioral and educational therapies and possibly medications. Many children benefit from a multidisciplinary team that may include board certified behavior analysts, speech and language pathologists, occupational therapists, physical therapists, and other professionals. It’s important to recognize that autism is a spectrum, and not all individuals or families view support through the lens of “treatment.” For many, the focus is on providing tools and accommodations that help autistic people thrive, while also celebrating their unique strengths and differences.
What do we know about leucovorin, which has recently been suggested as a treatment for autism?
The data suggesting that leucovorin may improve some symptoms of autism come from five small clinical trials. The Autism Science Foundation says a higher standard of science would be needed to determine if leucovorin is an effective and safe treatment for autism. The Foundation says the science is still in very early stages, and more studies are necessary before a definitive conclusion can be reached. As with all research in this field, experts emphasize that interventions should be considered in the context of each individual’s needs, and that supporting quality of life and respecting neurodiversity remain central priorities.
What about other research into autism?
Autism research is being conducted across many areas, including genetics, neurobiology, behavioral interventions, and targeted medications. One promising area of research seeks to identify autism genes in order to develop new medications, according to the Seaver Center. Some of the most exciting advances in autism are tests of new treatments tailored to the genetics of the patient.
What should I do if I think my child may have autism?
First, have a conversation with your child’s pediatrician. The American Academy of Pediatrics recommends that all children be screened for autism at their 18-month and 24-month well-child checkups. If there are concerns, your pediatrician should refer you to a specialist for a more extensive evaluation. The Seaver Autism Center is one important resource for our families.