NCSA leaders helped write a new review paper highlighting some of the overarching issues affecting individuals and families affected by profound autism, and directed at pediatric clinicians. We thank in particular Dr. Lee Wachtel, clinical director of the Neurobehavioral Unit at Kennedy Krieger, for leading this effort. The review is paywalled but summarized below.
Background
Profound autism is on the rise and represents a health crisis of global concern demanding our immediate and utmost attention. (According to a CDC study, profound autism is a large sector of the autism population, affecting 26.7% of childhood with autism.)
This review addresses four priority topics: (1) challenging behaviors; (2) comorbid psychiatric disturbance; (3) the need for more extensive school, in-home, and residential services; and (4) insufficient research into profound autism.
DSM-5 Autism Spectrum Disorder allows for specifiers of intellectual disability (ID) and language impairment in an ASD diagnosis, as well as severity levels (1, 2 and 3).
However these are underutilized and insufficient.
A global ASD diagnosis falls short in capturing and distinguishing those with the most severe forms of autism and associated ID.
The 2021 Lancet Commission proposed the profound autism rubric to identify those with autism and all of the following comorbidities: ID with IQ less than 50; minimal or no language; requires 24-hour supervision; requires assistance with activities of daily living (ADLs).
Studies have repeatedly shown worse outcomes in the low functioning compared with the higher functioning, including lower quality of life and physical health, more dependence on parents. Poorer outcomes are associated with lower IQ and verbal functioning and higher autism severity; nonverbal mental age at 2 years old is predictive of independence with ADLs at age 21. Outcomes are predicted by severity of autism, cognitive, and language levels, as well as medical and psychiatric comorbidities.
Similarly, higher IQ predicts adaptive skills in adolescence, and better communication skills and cognitive capacity in toddlerhood predicted better cognitive and adaptive skills in adolescence. The greatest gains are made by children who have language progress by age 3 and average nonverbal skills at age 3, with the overriding conclusion that IQ at ages 2 and 3 are strong indicators of independence in adulthood.
CDC ADDM dataalso indicate that the population prevalence of ASD with comorbid ID and borderline ID has increased markedly since data were first collected in the 2008 surveillance year. For those with IQ 70 and below, the population prevalence was 0.429% in 2008; in 2020, it more than doubled to 1.046%.
For those with borderline ID, or IQs 71 to 85, the population prevalence was 0.271% in 2008; in 2020, it more than doubled to 0.649% in 2020.
37.9% of children in the 2020 CDC ADDM study were classified as having an ID (an increase from 2 years prior), 23.5% had borderline ID (an increase from 2 years prior), and 38.6% had no ID (a decrease from 2 years prior).
The CDC’s 2023 study on profound autism also demonstrated that over 16 years of surveillance from 2000 to 2016, the prevalence of profound autism greatly increased, from 0.268% to 0.459% of 8-year-olds.
(1) Challenging Behaviors
Challenging behaviors are a daunting problem in autism, affecting 27% to 50% of individuals. Those with profound autism are particularly at risk.
Recent literature evaluating the characteristics of children meeting the precise Lancet criteria for profound autism across 15 US sites from 2000 to 2016 documented higher risk of self-injury as compared to those with nonprofound autism.
Maladaptive behaviors typically fall within the rubrics of self-injurious, aggressive, and disruptive acts, referring the challenging behaviors toward the self, others, and environment, respectively. There is enormous breadth in terms of these behaviors, which may include headbanging, hand-head or hand-body hitting, body slamming, scratching, biting, slapping, poking, kicking, punching, headbutting, property destruction, elopement, inappropriate excrement play, inappropriately sexualized behaviors, and dangerous pica.
Many individuals display more than one kind of challenging behavior, and if left untreated, these behaviors have a propensity to worsen and intensify.
There is also a tremendous range in terms of the sequelae of such behaviors, including localized abrasions, lacerations, bruises, swelling, broken limbs, cauliflower ears and other cosmetic tissue damage, traumatic cataract development, retinal detachment, skull fractures, cerebral hemorrhages, and even death.
Another unintended consequence of challenging behaviors is the frequent exclusion from community life as such conduct is generally not socially acceptable in public settings and may pose heightened safety risks outside of the immediate home.
This affects an individual’s ability to participate in educational, leisure, social, and family activities during childhood, and as they age, challenging behaviors negatively impact vocational and independent living options.
Services available to facilitate integration into community life for this population can be declined on the basis of challenging behaviors being dangerous and disruptive or requiring a higher level of staffing to ensure safety. Ironically, challenging behaviors may also lead to exclusion from necessary inpatient care due to facility safety policies and lack of management expertise, creating a unique health situation where one may be “too ill to be hospitalized.”
Challenging behaviors in ASD are the most common reason for placement outside of the home as a child’s problematic behavioral display often exceeds what caregivers can manage, especially as the child becomes an adult and the parents age as well.
There is a national lack of sufficient in-home staff and supports that are familiar and comfortable to work with someone that can cause injury to a caregiver. There is related concern that individuals transitioning to adulthood may lose their funding for such supports due to age or insurance.
Behavioral emergency situations have significantly worsened since the coronavirus disease 2019 pandemic and have led to innumerable reports of individuals with autism and ID—most likely representative of profound autism—stranded in emergency departments unable to access services or discharge safely home.
There is lack of access to expert clinicians and qualified care teams, as well as funds to pay for what are often very time-intensive, costly interventions. Treatment options are often limited to the pediatric population, may be part and parcel of educational accommodations and services through an individualized educational plan, and are often not covered by commercial insurances.
Life expectancy for individuals with both autism and ID/developmental disabilities (DDs) is shorter than the average population.
(2) Psychiatric Comorbidities
Psychiatric comorbidities in autism are common. A 2013 study demonstrated that 57.5% of autistic participants had at least 1 additional DSM diagnosis, and a 2019 study found that 91% of autistic children and 31% of autistic adults had at least 1 additional DSM diagnosis. A recent literature review found that 70% to 95% of youth with ASD had at least 1 DSM diagnosis, 41% to 60% had 2 or more DSM diagnoses, and fully 24% had 3 or more comorbid DSM diagnoses.
Anxiety is estimated to occur in 30% to 40% of autistic youth
ADHD in 14% to 70%
Affective disorders in 5% to 10%,
Psychotic disorders in 4% to 11%
Catatonia in 12% to 20%.
The risk of development of schizophrenia in adolescents and young adults with ASD is around 10%.
Attention-deficit/hyperactivity disorder (ADHD) and anxiety are the most common psychiatric comorbidities of ASD.
All psychiatric comorbidities of ASD can contribute to overall impairment, for example, a 2021 study evaluating ASD and ADHD demonstrated that children with both diagnoses had higher scores on Vineland Adaptive and Social Responsiveness rating scales, indicating greater overall dysfunction and potential lower quality of life.
It is currently estimated that around 40% of individuals with ASD have ID. Psychopathology of all forms is further known to occur at higher rates in individuals with ID as compared to those with normal cognitive functioning.
Challenging behavior is also well recognized as an additional risk factor for psychiatric illness in ASD, and the best treatment paradigms for acute behavioral crises urge diagnosis and treatment of underlying psychopathology.
This translates into a direct need for well-trained mental health providers who are available to promptly assess, diagnose, and treat a growing number of individuals with profound autism across the lifespan for a wide range of psychiatric concerns.
Sadly, mental health services for individuals with autism are often limited and unequally available; a 2019 study of 8184 US mental health facilities found that only 43% accepted youth with ASD.
(3) Service Needs
Individuals with neurodevelopmental disabilities age out of federally mandated education, support, and services following high school graduation. This abrupt cessation of services is commonly referred to as “falling off the cliff” into an adult-targeting human services system that is woefully inadequate to support the deluge of individuals with ASD entering that system.
According to Gerhardt and Lanier, the increasing number of children with autism exiting the educational system requiring life-sustaining adult services is creating “a looming crisis of unprecedented magnitude for adults with ASD, their families, and the ill-prepared and underfunded adult service system charged with meeting their needs.”
Families report fear and anxiety surrounding the process of securing adult services.
The dearth of services available to support individuals on the autism spectrum is a national concern. Individuals with profound ASD are often left to languish in the emergency departments of hospitals for months since there are no other services available to support their needs.
The lack of services is exacerbated by nationwide staffing shortages of direct care workers, a situation which is particularly dire for those with profound autism; agencies can pick and choose those they serve, and often decline those with the highest needs.
Service systems widely vary among states.
Without the right supports and services, quality of life cannot be achieved for individuals with autism and their families.
(4) Unequal Representation in Research
Profound autism is not currently equally represented in autism research.
One study found that only 58% of autism studies included those with comorbid ID; such inclusion has also been found to be decreasing over time.
Inclusion of these individuals in research requires extra time and consideration, and recruitment goals for subjects with profound autism may lag behind for various reasons.
ASD heterogeneity has been noted as a key impediment in clinical trials involving drug development, a key area where progress is limited to the detriment of the entire ASD spectrum.
Research measures and instruments that rely on language as an outcome are not applicable to those who are minimally verbal. Certain tasks may require cognitive abilities that some people do not possess, and additional testing to ensure that IQ is obtained places an extra burden on family members. Certain tasks required for research such as reading, writing, processing directions, sitting still, or attention may not be feasible.
Future research may require studies which focus on particular subgroups of individuals to determine the feasibility of protocols developed to accommodate the needs of those with ASD with ID or those who are minimally verbal, that is, those with profound autism.
Much work remains to be done to fully include those with profound autism in research.
Reference:
Wachtel, L.E., Escher, J., Halladay, A., Lutz, A., Satriale, G., Westover, A. and Lopez-Arvizu, C., 2024. Profound Autism: An Imperative Diagnosis. Pediatric Clinics.