Should The Autism Spectrum Remain as is?

Should the spectrum be dissolved?

Yup- I will be broaching the very controversial topic of the potential division or restructuring of the autism spectrum and autism label. This is an extremely tough topics and one that many professionals, including myself, have had many opinions on.

In fact, recently, Dame Uta Frith, professor of cognitive development has made some recent statements that are very controversial and have further divided the autism community. I want to discuss her opinions and explain why I both agree and disagree with her. So the idea that the spectrum may not be serving us well in terms of proper classification and outcomes is one I can mostly get on board with.

Uta explained that she initially argued for an autism spectrum decades ago when the diversity was less, and now has stated “I think the spectrum has come to its collapse” and noting she “fears the current approach may be damaging”, Uta stated that there is “No longer a common denominator and the spectrum has stretched so far it is no longer useful as a medical diagnosis” Her argument is that because we are all technically neurodiverse, she feels there should be different labels or subcategories, the concern is that the significant increase in the low support needs group may be taking supports and services from those who require more intensive support, lacks commonality, affects research in terms of causes and intervention and puts strain on schools to provide resources, We know there are different services and needs for these populations, Uta describes two subgroups: one group diagnosed in early childhood with notable intellectual and language delay and another group diagnosed later with strong intellectual and language skills, While not necessarily that clear cut, My feeling has been, Level 3 and Level 1 do not have enough homogeneity, This becomes controversial because at present, because there are no biomarkers, blood tests, genetic screenings etc., so many factors genetic and environmental that can result in autism spectrum disorder as it stands, very different genetic profiles, very different adaptive skills, very different levels of independence, I do believe we need to further break down the spectrum for purposes of appropriate supports and interventions. For example anxiety as a general concept: social, separation, specific phobia, OCD, panic disorder, which all have pretty different specific interventions in terms of meds or therapies, despite some overlap.

Okay but here’s where she really loses me. Uta described the higher end of the spectrum as those who are verbally fluent, socially anxious, and hypersensitive, described as “personality traits” like aversion to noise or social awkwardness” she also said it can’t be autism if conversation is not stilted or abrupt (maybe its not stilted or “odd” because they are talking to a clinician who is also neurodivergent and they feel more comfortable and understood or the clinician doesn’t perceive it to be “odd”), and they wouldn’t be able to understand irony and humor, (also subjective concepts, society has changed in the way we even interpret humor and also I know MANY autistics who are some of the funniest people and have leaned into their autism and found humor within it, but continue to struggle functionally nonetheless), She claims she has “heard from clinicians” that they feel under severe pressure to give the diagnosis because the person has waited months for a diagnosis and are convinced they are autistic. Now. I have seen some of these cases. Some of which absolutely had been overlooked their whole life and some where autism was not an appropriate diagnosis and they actually met criteria for an entirely separate diagnosis. Here’s what I have to say. If you as a diagnostician are giving an autism or any other diagnosis because of “pressure”, you need to get into a different profession, because that is wildly unethical, she then goes on to say that there is no “proof” of masking, doesn’t understand how masking can lead to exhaustion, doesn’t believe women with autism have been overlooked, which has all actually been proven in recent research, She also takes issue with many self-diagnosing leading to over-diagnosis, says it has become glamorized and desirable, with some parents seeking the diagnosis feeling their children has “hidden superpowers” (which may have some truth to it, I do think we need to be very careful with self-diagnosing, but then we need to question if it is true for some, then WHY)

What is well established at this point is that ASD is not “a single condition.” As I have noted before, it maybe helpful to think of it as similar to cancer, diabetes, or dementia, not in terms of symptoms or presentation, but in terms of etiology, cause, and potential interaction with environmental factors. As we well know, there are many different forms of cancer with different etiologies and thus different treatments, and the more we understand about each subtype of cancer, the more targeted interventions and supports are available. Now what is different about autism as opposed to cancer or dementia is that almost everyone would choose to be treated fro cancer and dementia, while not everyone is seeking a treatment or intervention for autism.

But’s lets switch gears for a minute and talk about what we do know about what genetics behind autism spectrum disorder. We know that there are an estimated 1100 genes implicated in ASD, with around 200 being de novo (new mutations) and transmitted (inherited) genetic variants that overlap with other neurodevelopment disorders, many with overlap of inflammatory illnesses or autoimmune dysfunction, but these aberrations in development look different in every case. ASD may be “caused” by one gene or many (multiple gene alterations) depending on individual case, which likely interact with the environment (epigenetics). These genetic mutations can either be inherited or spontaneous and can either be the result of single-point mutations, chromosomal rearrangements, or copy number variants can all cause ASD. We know there is a heritability factor, meaning running in families, because there is a 10-fold increased risk if a sibling has an ASD diagnosis. The de novo variants, which are the ones that were spontaneous, not inherited, and tend to affect individual genes slightly more in females, while rearrangement of chromosomes tend to be slightly more common in males. When there is a duplication of a gene, this tends to be associated with the most significant intellectual and developmental delays. Duplications often lower IQ than deletions but deletions tend to result in more specific autistic features. Some genes more so affect neurotransmitters (dopamine, GABA, glutamate)/neuroanatomy (amygdala, hippocampus, cerebellum, prefrontal cortex, NA) and connections between neurons.

In terms of specifics, we know that there are certain genes Some genes are more “high impact” than others (MECP2, SHANK3, NLGN3, FMR1, FEZF2, KMT2E). Mutations on these particular genes tend to result in specific genetic disorders (e.g., retts, phelan-mcdermid, fragile x etc.) that tend to be associated with an autism spectrum disorder diagnosis. We also know the most common chromosomes affected are 7, 15, 16, and 22 as well as the X sex-based chromosome, more on that in a bit.

So let’s talk about some of the environmental factors that can interact with some of these genetic mutations to “cause autism to be expressed.” Exposure to mercury, lead, valproic acid, alcohol, infections can all affect genes expression and lead to ASD, secondary to immune response/inflammation/oxidative stress. We also know that de novo mutations occur in individuals ASD as parental age increases.

Additionally, the presentation of symptoms can be altered by sex chromosomes (e.g., Angelman vs. Prader-Willi on the same chromosomes but depends who it is inherited by (for example, Cornelia de Lange is more common in females and Claes-Jensen Syndrome is more common in boys). The RNA within the X chromosome can be affected by environmental factors, thus affecting the outcome of the mutation, which results in one disorder vs. another, depending on if the mutation occurred on the maternal or paternal X chromosome and whether the X chromosome is active or inactive at the time, and thus affecting a certain part of the body or brain.

All of these is important to understand, not only in terms of understanding the potential causes, but also in terms of understanding how the genetic profile can inform pharmacological and genetic interventions. One concern though is that obtaining a genetic diagnosis can be a barrier to receiving an autism diagnosis because the child may not be able to get a secondary diagnosis of ASD as technically the ASD would be “associated with a known genetic condition” preventing the ASD diagnosis and thus services/supports, but hopefully this can be remedied soon because it doesn’t support the needs of the children. Plus essentially every diagnosis has a neurobiological etiology of some sort.

Some genetic mutations result in genetic disorders, producing “global developmental delays” and “autism-like symptoms.” Children who have deficits or delays across all domains of functioning without having a more “traditional” autism profile, resulting in discrepancies between skills, with splinter skills, and comparatively weaker language and social skills. Which again begs the question, is this all one disorder? Does one label account for all these profiles and presentations? Are the interventions or treatments the same or related, medically, behaviorally, educationally, and otherwise? Is autism something to cure? Would parents “take away” autism from their children if they could? How many children are given an autism diagnosis in order to be eligible for services that are appropriate or do they truly fit the “autism” mold?

Moreover, a recent article compared the biomarkers and neuroanatomy of autism and ADHD. They found a number of similarities in the way that different parts of the brain were connected to each other (less specialization or organization). Similar parts of the brain were affected in both ADHD and ASD, tended to be more atypical in those with more severe forms of both disorders. ASD may be an “extreme form” of ADHD so to speak. All involve language, social-emotional, and sensory functioning. Those with “high-functioning” or Level 1 autism are more likely to have more inattentive/executive functioning symptoms, while Level 2 and Level 3 are more likely to have more hyperactive/impulsive symptoms, but this pattern does not always hold true. At least 32% of people who have autism have ADHD. ADHD and ASD are often hard to differentiate, especially when heavily relying on parent/teacher/self-report questionnaires and even the “gold standard” ADOS-2. Both seem to be inherited via similar genes, again begging the question, are they truly two separate disorders, and how does this affect the autism spectrum as a whole? No direct correlation between parents diagnosis and child’s diagnoses (can parent with ASD, child with ADHD OR parent with ADHD, child with ASD, etc.). More shared biomarkers between Level 1 ASD and ADHD (which are supposedly two different disorders) than Level 1 ASD and Level 3 ASD (which are supposedly the same disorder).

So, knowing all this regarding the potential “underlying causes” of autism, the variability in diagnosis, the variability in presentation, the potential flaws in diagnostic labels, the flaws in assessment instruments, and the variability in response to particular treatments and interventions, does the autism spectrum continue to be the best way to characterize what we think of today as “autism?”