Three major studies making major differences
Although healthcare providers generally know the signs of autism in toddlers, the typical child with autism in the U.S. doesn’t receive a diagnosis until age 4 and 1/2. Before getting the diagnosis, a child sees an average of four or five professionals during the family’s search for answers; some are never diagnosed. Many of these children miss opportunities for intervention during the most sensitive period of brain development.
In studies published over the last year, BYU’s interdisciplinary research group Autism Connect has outlined ways to change these norms by improving the accuracy, timeliness and helpfulness of autism diagnoses. Here are just a few of their contributions.
Award-winning study identifies gaps in autism screening
Named as one of the top ten articles of 2020 in the influential journal Pediatrics, a study by BYU professor Terisa Gabrielsen and colleagues from other institutions examined the effectiveness of the Modified Checklist for Autism in Toddlers (M-CHAT), the standard autism screening survey completed by parents of toddlers at well-child visits.
The researchers found that providers administer the M-CHAT inconsistently, based on records of 36,223 Utah children at 20 clinics. While 73% of the children had been screened for autism at least once, only 54% had been screened at both the 18- and 24-month check-ups, as recommended by the American Academy of Pediatrics.
“We get much more accurate results when we screen twice,” said Gabrielsen, noting the significant development that occurs between the ages of 18 and 24 months. Of children who were screened just once and eventually went on to receive an autism diagnosis, 72% had a false negative result; among those who were screened twice, the number of false negatives dropped to 59%.
But as these numbers show, the M-CHAT is not foolproof even when given correctly, Gabrielsen stressed.
“If parents are concerned, providers should listen even if the autism screen is negative because parents live with the child, so they are experts, too. Keep pursuing further evaluation.”
“Different, not broken”: The art of sharing an autism diagnosis
Once providers determine an autism diagnosis, how they tell parents can profoundly shape parents’ preparedness to act. Yet, there had been no studies of what parents actually experience during that watershed moment, a research gap BYU PhD student Emily Anderberg wanted to fill.
Based on data from focus groups and a survey of 189 parents, Anderberg said that families value providers who offer “warmth, empathy, directness and abundant information” and that it’s critical for providers to survey families ahead of time about expectations and pay attention to emotional cues during the appointment. While families who anticipate the diagnosis mainly want information, less prepared families first need extra time to pause and process their feelings about the news.
The study, published in the Journal of Autism Developmental Disorders, also found that parents are long affected by a provider’s tone toward autism and their child.
“We want to emphasize autism as a different way of being, not a broken way of being,” said BYU professor Mikle South, a co-author of the paper. “Providers should discuss strategies to promote the child’s success, but let’s also talk about the positive characteristics associated with autism, such as reliability, persistence, focus, attention to detail and out-of-the-box thinking.”
Women with undiagnosed autism experience unique mental health challenges
For those whose autism isn’t identified in childhood—which is more common for girls—challenges can be especially intense. One of the most read stories from BYU News last year covered research published in the journal Autism on the poor mental health experienced by women who “camouflage” autistic traits in order to fit in.
Of the 58 women in the study, who all had high levels of autistic traits, the majority reported frequently masking autistic characteristics. Troublingly, the majority also reported significant psychological distress—including depression (62%), stress (66%) and anxiety (67%)—and 62% reported having past or present thoughts of suicide. More than half of the women additionally described difficulty in everyday functioning, such as maintaining friendships and successfully completing work tasks.
The findings have important implications for mental health providers, who “face significant challenges in appropriately assessing and providing recommendations for women with autistic traits,” said Dr. Jonathan Beck, who authored the paper for his BYU doctoral work.
The results are consistent with those of other studies that show elevated rates of both camouflaging and death by suicide in autistic girls and women, as Mikle South concluded in a recent review essay for JAMA Open Network. Clinicians should be on the lookout for potential undiagnosed cases of autism in women with mental health challenges.
“Part of the reason we want to get these girls and women diagnosed earlier,” said BYU professor and co-author Rebecca Lundwall, “is so that they can say, ‘Okay, that’s what’s going on; I’m not that unusual; I can find other people like me.’ They can feel like they are not alone.”
Future research on autism diagnoses
BYU’s Autism Connect continues to conduct research to ensure that every child is adequately screened for autism at well-child checkups. To learn more or to contact the group to participate in one of their ongoing studies, please see their website.