Autism/ASD - Clinical Case Series #8
Adapted/Edited by Dr Gurjot Brar from "Evolution and Psychiatry: Clinical Cases" by Prof. Henry O'Connell
Welcome to the eighth in our clinical case series, exploring common mental disorders through the lens of evolutionary psychiatry. A ‘problem-based learning’ (PBL) approach is taken with learning outcomes defined at the outset, followed by several clinical encounters with fictional scenarios, interspersed with theory responding to the learning objectives. This method has emerged globally in medical curricula and has a good evidence base in medical education promoting self-directed learning. We hope you enjoy this format and look forward to your feedback.
This case series will often refer to key principles defined in the following article published in July 2023 which serves as a primer:
Evolution – basic principles & applications to health and illness
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Autism
Learning Objectives
1.   Regarding autism spectrum disorders (ASD), outline the core clinical features, epidemiology, aetiology, pathophysiology and management.
2.   Outline how evolutionary perspectives can be utilized in conceptualizing ASD.
3.   Outline how the management of ASD can be enhanced by an evolutionary perspective.
4.   Outline how educational interventions for younger people with ASD can be enhanced by an evolutionary perspective.
Hugo
Dr. Sullivan is a Child and Adolescent Psychiatrist. His first referral of the new week is of Hugo Joyce, a 5 year old boy who has just started in primary school. The referral is from local GP Dr. Michael Gaffney:
Dear Dr. Sullivan,
I would appreciate it if you could arrange for a psychiatric and multidisciplinary assessment of Hugo, now age 5 and just a few weeks into primary school where he seems to be having difficulty fitting in. I’ve know his parents for many years. Hugo is their only child and he has no history of health problems. Likewise his parents are healthy and there is no history of mental health problems in the extended family. His father is a very serious and intelligent man who works in IT. His mother is a florist with her own business.
Hugo has always been a very quiet and introverted child and that has become much more obvious since he started school. He seems to have no interest in making new friends. He becomes uncomfortable and stressed in the classroom setting, especially if there is a lot of noise or activity. At break times he plays on his own, usually organizing his toy cars into long rows on the ground. He does his homework precisely and conscientiously without any help. He is ‘obsessed’ with Spiderman, with his bedroom walls covered in posters and he has stacks of comics about the superhero.
He is clearly a very bright and diligent child. However, he seems to have difficulty relating to peers, being more comfortable with adults and I am concerned that he may be on some sort of spectrum. I’m also concerned that he may lose out educationally unless some supports are put in place as early as possible. The school is willing to help but they do need a formal assessment and diagnosis to be made.Â
Kind regards,
Dr. Michael Gaffney.
Learning Objective 1: Regarding autism spectrum disorders (ASD), outline the core clinical features, epidemiology, aetiology, pathophysiology and management.
In the past five decades, autism spectrum disorder (ASD) has evolved from a narrowly defined, rare childhood disorder to a widely recognized, advocated, and researched lifelong condition. ASD is now understood to be common and heterogeneous, ranging from mild to severe. The core features of ASD—social communication deficits and repetitive sensory-motor behaviors—have remained consistent, though it is now considered a spectrum disorder (Lord et al., 2018).
ASD is characterized by core features in social communication and restricted, repetitive sensory-motor behaviors. Diagnosis is based on behavior as there are no reliable biomarkers. The DSM-5 criteria, published in 2013, consolidated previous subtypes under a single ASD diagnosis and recognized co-occurring genetic and psychiatric conditions. To be diagnosed with ASD, a person must exhibit difficulties in social communication and restricted, repetitive behaviors (Lord et al., 2018).
Intelligence varies from above normalto moderately or severely impaired, and use of language can vary from superior through to non-verbal.
ASD is seen in approximately 2% of every generation with onset evident from early childhood and a rate in males 3-4 times that seen in females (Werling & Geschwind, 2013; Lord et al., 2018). Aetiology is related to the effects of multiple (hundreds if not thousands) of small allelic effects.
Smaller cell size and increased density of cells in the hippocampus, limbic system, entorhinal cortex, and amygdala have been observed in all ages of ASD individuals (Kemper & Bauman, 1998). MRI findings in children with ASD ranging from 2 to 5 years of age revealed that there is an abnormal development of frontal and temporal lobes, lower grey matter white matter, and amygdala volume compared to same-age healthy controls (Amaral et al., 2008).
Management and supports should be introduced as early as possible and guided by the potentially widely varying individual needs, with emphasis on educational supports and guidance around social interactions (Lord et al., 2018; Crowley et al, 2022).
You say that Hugo doesn’t really have a mental illness or disability. So why does he need treatment then?
Over the following two weeks Dr. Sullivan and his multidisciplinary team perform an assessment of Hugo. This involves meetings between Dr. Sullivan and his Clinical Psychologist and Occupational Therapy colleagues with Hugo and his parents in clinic and observations in the classroom setting. The Clinical Nurse Specialist also obtains background information from the teaching staff at Hugo’s school.
The assessment process confirms the GP’s observations. Hugo demonstrates evidence of difficulties with reciprocal social interaction in different settings, especially in his interactions with other children. He doesn’t seem to ‘get’ other children and the assessment team have noted how he is sometimes mocked in school because of this and because of his insistence on playing with his toy cars at break times.
He seems to miss the meaning of jokes and can sometimes come out with very literal and concrete interpretations of language, e.g. becoming upset one day when the teacher said that outside it was ‘raining cats and dogs’.
Hugo also seems to have some limitations in his ability to engage in imaginative play, preferring the repetitive activity of counting and ordering his toy cars in long rows. Whenever asked about Spiderman he starts into great detail about his hero’s exploits and superpowers.
Dr. Sullivan convenes a multidisciplinary team meeting that confirms a diagnosis of autistic spectrum disorder (ASD) with normal or possibly superior intelligence. Dr. Sullivan then meets with Hugo’s parents to outline the conclusions of the assessment and the treatment implications.
Hugo’s father wants to know what the diagnosis will mean for Hugo and what it means on a day to day basis: ‘Talking about spectrums is very loose in my opinion. I want to know if my boy has a disability or not. And I want to know how he will cope as an adult’. Hugo’s mother seems to be more comfortable with the information and tries to reassure her husband: ‘This doesn’t change Hugo. It’s just a way of detailing his strengths and weaknesses. And I see a lot of you in Hugo, so that can’t be bad!’
Dr. Sullivan outlines the key clinical facts relating to ASD (see earlier Learning Objective). Hugo’s father is somewhat dismissive of this: ‘Don’t you think we know this stuff? It’s not rocket science and we know our boy. But I think this diagnosis is becoming more common and I want to know if you have any new or alternative views on ASD? And you talk about treatment plans, but what is the basis for treatment? You say that Hugo doesn’t really have a mental illness or disability. So why does he need treatment then?’
Learning Objective 2: Outline how evolutionary perspectives can be utilized in conceptualizing ASD.
The genetic potential for developing ASD is mediated by multiple small allelic genetic effects. The fact that these genetic effects are preserved in the human genome suggests that they have evolved to serve potential adaptive roles. Theories such as Simon Baron-Cohen's empathizing-systemizing theory suggest autism involves strengths in understanding systems but difficulties in social cognition, potentially beneficial in ancestral environments. Similarly, Crespi and Badcock's "diametrical disorders" theory contrasts autism with conditions like schizophrenia, highlighting evolutionary trade-offs.
While the broad label of autism makes it challenging to pinpoint a single cause, Hunt, (2021) categorizes autism into evolved or diseased forms. Research shows that 3-10% of autism cases are due to rare genetic variants (de la Torre-Ubieta et al., 2016) and prenatal teratogens like valproate or alcohol (Mandy & Lai, 2016), classifying these as diseases. After excluding these cases, many remaining instances of autism might be understood as evolved traits, with characteristics such as early onset, lifelong presence, and higher prevalence in males. These traits suggest that autism could have been advantageous in our ancestral environment, with individuals serving as memory banks and system specialists within hunter-gatherer tribes. We can then differentiate between disease and potentially evolved traits, providing a coherent evolutionary perspective on autism (Hunt, 2021).
Bernard Crespi and colleagues (2008) have examined the phenotypic impact of some of the most common Single Nucleotide Polymorphisms (SNPs) for ASD traits and found that certain ASD risk alleles are associated with superior performance on specific neuropsychological tests. For example, the PITX1 and APC genes (associated with autism risk) are associated with superior performance on mental rotation tests.
Crespi (2008) has also examined a broader range of characteristics and capacities, referred to as ‘core elements of evolved human brain and behaviour’ and listed below:
1. Language
2. Sense of self
3. Mentalistic Skill
4. Social Emotionality
5. Complex, Regulated Goal Pursuit
6. Empathic Drive
7. Visual-Spatial, Technical Skills
8. Abstract Intelligence
The above listed characteristics are genetically mediated to vary in a bidirectional way, with the capacities of individuals varying on a spectrum. For example, language skills can vary from ‘no language’ through to superior language abilities.
When considered in the context of ASD, the first six characteristics are impaired to varying degrees in ASD whereas the last two (visual-spatial/technical skills and abstract intelligence) are relatively enhanced in ASD.
This evolutionary, genetic and characteristics based approach to conceptualizing ASD takes us away from the oversimplistic binary ‘autistic or not autistic’ view of individuals. More importantly, this perspective highlights how ‘ASD traits’ are not necessarily pathological but may instead represent exaggerated phenotypes of inherited and adaptive characteristics.Â
Crespi (2008) takes a further significant step in proposing that the above listed elements may have reciprocal and opposite manifestations in ASD as opposed to ‘psychotic and affective’ conditions. For example, impaired language development in ASD may be mirrored by ‘excessive’ emphasis on language in psychotic and affective disorders, with the experience of auditory hallucinations. Likewise, impaired empathetic and theory of mind capabilities in ASD may be mirrored by ‘excessive’ empathizing of e.g. emotionally unstable personality disorder or paranoia in psychotic states. These ‘mirroring’ effects have potential treatment implications, with opposite impacts of psychotropic medications on ASD versus ‘psychotic-affective’ conditions.
Simon Baron-Cohen is another key researcher and writer in the area of ASD and in the applications of evolutionary science to this topic. He was a key individual in developing the ‘Theory of Mind’ hypothesis (Baron-Cohen et al., 1985). More recently, he has proposed that the capacity to ‘systemise’ evolved in the human brain 70-100,000 years ago and is closely related to both our human inventiveness and ASD traits. Baron-Cohen makes his proposal based on decades of neuropsychological research in the area, on several examples of extraordinarily inventive individuals (Bill Gates, Elon Musk and Thomas Edison) and archaeological evidence for the appearance of innovative tools in our phylogenetic history such as e.g. bows and arrows (Baron-Cohen, 2021).
Below are some of the Baron-Cohen’s main theories relating to autism:
Theory of Mind (ToM): proposes that individuals with autism often have difficulties with Theory of Mind, which is the ability to attribute mental states—beliefs, intents, desires, emotions, knowledge—to oneself and others. This difficulty, often referred to as "mindblindness," is thought to be a core feature of autism (Baron-Cohen et al., 1985).
Empathizing-Systemizing (E-S) Theory: This theory posits that people with autism typically show a cognitive profile characterized by strong systemizing (the drive to analyze or construct systems) and lower empathizing (the drive to identify and respond to others' emotions). This theory suggests that the autistic brain is particularly adept at understanding and working with systems, such as mathematical or mechanical systems, but less so at interpreting social interactions (Baron-Cohen et al., 2005; Baron-Cohen, 2009).
Extreme Male Brain (EMB) Theory: Building on his E-S theory, Baron-Cohen introduced the EMB theory of autism, which suggests that autism can be understood as an extreme of the typical male brain, which he describes is more systemizing than empathizing compared to the typical female brain (Baron-Cohen, 2002; 2009).
Prenatal Hormones: Baron-Cohen's research also explores the role of prenatal hormones, particularly fetal testosterone, in the development of autistic traits. His studies suggest that higher levels of fetal testosterone are associated with reduced social and language skills and increased systemizing tendencies.
Baron-Cohen’s theories based on sexual differences have been criticised (Nash & Grossi, 2007; Andrew, 2008), including there being a lack of independent replication (Furfaro, 2009). Â
Learning Objective 3: Outline how individual therapy for ASD can be enhanced by an evolutionary perspective.
The breakdown of elements outlined in the previous learning objective should be borne in mind when planning individual therapy and supports for people with ASD.
 Therefore, the person should not simply be thought of as having ASD or not or even ‘being on the spectrum’ or not. Instead, the core elements for that individual should be assessed formally (using clinical assessment and objective rating scales such as ADOS (Lord et al., 2000)) and areas of need should be addressed while areas of superior performance should also be acknowledged and nurtured.
Recently, Hunt & Procyshyn (2024) argue that despite their distinct origins, both evolutionary psychiatry and neurodiversity aim to broaden perspectives on cognitive differences and challenge the conventional view of psychopathology.
Evolutionary psychiatry focuses on the evolutionary basis of cognitive traits, offering explanations for conditions like autism as evolutionary adaptations that may present challenges in modern settings. Meanwhile, the neurodiversity movement, rooted in the social model of disability, argues that conditions often labeled as mental disorders should be accepted as natural cognitive variations. It advocates for social justice, emphasizing the need for societal acceptance and accommodation rather than medical cures. Despite differences, both paradigms share common goals: reframing traits currently diagnosed as mental disorders as natural differences, expanding the concept of normality, and emphasizing strengths associated with cognitive differences (Hunt & Procyshyn, 2024).
He’s such a great boy. Very polite and compliant. But I feel a little sorry for him…
Hugo’s parents give their consent for Dr Sullivan to meet with his primary teacher and the school principal. They agree with the diagnosis and are happy to see that their concerns have been formally addressed with the assessment. The teachers have a lot of experience of dealing with children with ASD but they lack adequate resources to fully meet their needs. His primary teacher has made a very good connection with Hugo and his parents: ‘He’s such a great boy. Very polite and compliant. But I feel a little sorry for him when I see how different he can be from the others and how the others notice that’.
Learning Objective 4: Outline how educational interventions for younger people with ASD can be enhanced by an evolutionary perspective.
Again, bearing in mind the core elements outlined in the earlier learning objectives, educational interventions and supports should be tailored to individuals depending on their particular profile with an emphasis on both strengths and weaknesses or deficits and inputs should be started from as early as possible. The evolutionary history of autism suggests that people with autistic traits have likely been integrated into society for many generations, such that given their individual strengths have occupied niches which have allowed them to thrive.
Educational interventions should be guided by the findings of detailed, multidisciplinary clinical and neuropsychological testing. Such testing is expensive and resource intensive but should be funded by health and education bodies as a priority.
For some individuals with ASD (e.g. those who are non-verbal or have severe behavioural disturbance) schooling must by necessity be highly specialised and delivered individually or in small groups in ASD orientated schools.
For those with normal or above normal intelligence and language skills, the aim becomes integration into mainstream schooling. Children with ASD will thus benefit from learning associated with social interaction with others but difficulties with e.g. noise tolerance and large crowded settings must also be considered. In practical terms, special needs assistants (SNAs) have a vital role in thus supporting children with ASD in mainstream school settings and facilitating their needs in both general classroom and individual educational experiences.
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I found this perspective on ASD particularly eye-opening (as someone deeply interested in how evolution shapes human traits). It's so important that we embrace cognitive diversity! While still ensuring that individuals like Hugo receive the support they need to thrive.
Thanks for writing, easy read and applicable. I have ongoing ambivalence about ASD as a state of physiology vs pathology but appreciate that in the end what matters are treatment not labels.