What Is Profound Autism?

Autism affects children in dramatically different ways. On one end of the autism spectrum are college- and career-bound children with distinctive talents and abilities. On the other end are kids who are intellectually disabled, nonverbal, and unable to function without intensive, lifelong support.

Last week the CDC released a study measuring the prevalence of those on the severely impaired end of the spectrum. Over the last two years, a proposal has been gaining traction for giving them a separate category or diagnosis from those who are higher functioning: profound autism.

The CDC study, based on a survey of records of more than 20,000 8-year-old children on the autism spectrum, found that 26.7 percent would meet the criteria for profound autism.

 Profound autism is defined as having an IQ of less than 50 or being nonverbal or minimally verbal. Kids with profound autism need help with tasks of daily living, such as dressing, bathing, and preparing meals. They are also likely to have medical issues like epilepsy and behaviors like self-injury and aggression that interfere with safety and well-being. They require round-the-clock support, throughout their lives, to be safe.

The CDC study follows a 2021 report by a Lancet Commission on the Future of Care and Research in Autism that endorsed the need for a new classification of profound autism.

 “The main purpose was to call attention to the fact that these kids and adults exist, and that they do need different services,” said Catherine Lord, PhD, the co-chair of the Lancet Commission. “And that we can predict who they will be, not at age 2 but by age 8 or 9, and we need to plan for them.”

All children with autism have been grouped together in the same broad diagnosis of autism spectrum disorder (ASD) since 2013, when the DSM-5 came out. The spectrum combined what had been five disorders, including Asperger’s syndrome, which was the diagnosis for high-functioning children with mild autism.

Since that change, many in the autism community, including many autistic self-advocates, have embraced the idea that autism should not be seen as a disorder, but as a neurological difference. They see autism as an identity, not a disability. Noting the strengths and talents of neurodiverse people, they argue that people on the spectrum should speak for themselves whenever possible, rather than having their needs represented by parents and other neurotypical authority figures.

But parents of severely affected kids who are unable to speak for themselves say they are being overlooked in the focus on neurodiversity. The separate category of profound autism is warranted, supporters say, because the needs of these children may be neglected if they are not identified.

“They and their families are at risk of being marginalized by a focus on more able individuals,” the Lancet commissioners wrote. “Many of these individuals need constant monitoring, even as adults, because of safety concerns including being at a higher risk of abuse and maltreatment due to their need for help with daily living skills and personal care.”

The neurodiversity movement has done much to combat stigma and promote acceptance of autism in mainstream life. But as brilliant and talented autistic characters proliferated on television and in movies, and celebrities began to publicly identify as being on the spectrum, families with severely impaired children began to feel that the autism spectrum diagnosis isn’t effective for children (and adults) with radically different needs.

“The breadth of autism spectrum disorder as defined under DSM-5 is so big that the people who share that diagnosis have absolutely nothing in common with each other,” explains Alison Singer, coauthor of the CDC study, president of the Autism Science Foundation, and mother of a 25-year-old daughter with profound autism.

“The umbrella ASD diagnosis has marginalized a growing population of individuals whose neurobehavioral pathologies are among the most alarming and disabling in the entire field of psychiatry,” the board of directors of the National Council for Severe Autism wrote in a position paper. “A revision to the DSM is clearly needed.”

While the CDC study found that more than a quarter of autistic kids fall into the profound autism category, the percentage was higher in girls than in boys. It was also higher among kids who are Black, Hispanic, Asian/Native Hawaiian/Other Pacific Islander, and low income than among white or affluent children.

The CDC researchers attribute these disparities to the fact that girls are less likely to be diagnosed with mild autism than boys are. The same is true for children in communities of color and low-income communities, who are less likely to be diagnosed than affluent and white children. With fewer less affected kids diagnosed in these groups, more impaired kids make up a greater share of the total diagnoses.

The CDC researchers note that the rise in overall autism diagnoses during the study period (2000 to 2016) has largely resulted from increased diagnosis of mild autism. While profound autism became 1.5 times more common during that time (from 1 in 373 to 1 in 218 children aged 8), “non–profound” autism became 5 times more common (from 1 in 254 to 1 in 70 children aged 8).

A primary goal of treating people with profound autism as a distinct group is to ensure that these children have access to the services they need. Defining the group and estimating the number of children who fit this category is a step toward making sure enough services exist.

“By diagnosing everyone with autism spectrum disorder, it became impossible to differentiate between the different types of needs that people had,” explains Singer.

Given that they are going to need lifelong care, adds Cynthia Martin, PsyD, Clinical Director of the Autism Center at the Child Mind Institute, “we need to better understand how to help improve their quality of life. How to help them with learning skills related to daily living. How to help them find stimulating activities and a meaningful purpose in life, help them be able to communicate effectively, help them find a peer group, help with things related to sexual health and sexual development.”

Critics of the new classification argue that the variation in services needed is covered by the specifiers of accompanying intellectual impairment or language impairment in the current DSM-5 diagnosis of autism spectrum disorder. There are also levels of severity of support needed for the core symptoms of autism — social communication deficits and restricted, repetitive behavior.

The Lancet Commission argues that those categories don’t serve the needs of these children because they “are not easily or consistently used in practice or in research.”

Dr. Martin adds that while those specifiers were intended to cover the heterogeneity in autism and the range of needs, they have not been adopted as intended, and are often not recognized by insurance companies.

Another key impetus for creating a new diagnosis of profound autism is that children in this group are routinely excluded from autism research, whose protocols usually require that the study participant have an IQ of 70 or higher. People with IQs under 50 have problems giving consent and may have behavioral challenges that make including them more difficult.

“If you as a scientist are conducting a study, you can fill your study with high-functioning people with whom you don’t have any issues about consent,” Singer says, “people who don’t have intellectual disability, who don’t have behaviors that made it impossible to put them in the scanner, who aren’t going to have tantrums in the office. But what that means is by excluding our children from studies, the results of those studies don’t apply to them.”

Dr. Martin adds that separate studies should be designed for the profound group. They require different skill set for clinicians, she explains, and different assessment tools.

“A lot of our tests are based on your chronological age,” Dr. Martin notes, “and we compare somebody’s functioning to a normative sample of those who are within their same chronological age. But if you have a 14-year old who’s developmentally much younger, that test that you are going to give them is not going to adequately characterize that individual person’s profile.”

Dr. Martin adds that exclusion from research has consequences for clinical care. “What studies show as having efficacy or effectiveness — that eventually turns into our evidence-based practice. And so, we need to have individuals with this profile of autism included in research.”

Some in the autism community see the term profound autism as potentially detrimental, including the Autism Self-Advocacy Network. “Our community’s unmet needs are critical and must not be pushed under the rug in favor of resurrecting harmful functioning labels once more,” the group said in a statement. “ASAN will continue to advocate for research and services that meet the needs, and promote the dignity, of all autistic people.”

Proponents see the new category as urgent for families whose struggles are overlooked by the neurodiversity movement.

“The term profound is not meant to demean anyone or to label anyone as a lost cause,” Singer insists. “Just the opposite. The whole idea of creating this nomenclature is so that we are better prepared to meet the needs of that population and to prepare for that and not pretend that they don’t exist.”

And to underscore the urgency, Dr. Martin adds: “We need to do better for their long-term vocational and life planning, because these are the kids whose parents are worrying, ‘How’s my child going to get by in this life? And who’s going to take care of my child when I’m no longer here?’”