Aetiology of autism
Autism is a neurodevelopmental disorder with multi-factorial aetiology. Detailed analysis is beyond the scope of this chapter. Different genetic and neurological pathways to autism are emerging. In future the term âautismsâ may be used (Coleman & Gillberg, 2012), with gradual subdivision into distinct groups with different aetiologies, profiles of abilities, and prognoses.
Heritability is a significant factor, with estimates from twin studies ranging from 56â95% (Colvert et al., 2015; Hallmayer et al., 2011; Tick et al., 2016). Heritability is also a factor in the recurrence rate of autism within a family, currently estimated as 35% (Brian et al., 2016).
Association has been identified between autism and autoimmune disorders (Keil et al., 2010; Chen et al., 2013), prematurity (Limperopoulos, 2009) and increased parental age (over 35 at age of conception) (Gardener et al., 2009; Lampi et al., 2013).
A large meta-analysis of studies using MRI scans has indicated very little by way of qualitative differences from typical samples (Pua et al., 2017), while van Rooij et al.âs (2017) review found multiple quantitative differences in structural findings.
Level of severity
DSM-5 includes a measure of the severity of expression of ASD based on the amount of support needed in the areas of social communication and restricted, repetitive behaviours: requiring support (Level 1), substantial support (Level 2), and very substantial support (Level 3). ASD Level 1 was formerly known as Aspergerâs syndrome (Attwood, 2015).
Many adults have the characteristics of autism without impairment affecting daily life. However, when a crisis occurs, such as being charged with a criminal offence, the symptoms may become conspicuous, triggering a diagnostic assessment.
Deficits in reciprocal social communication
DSM-5 subdivides deficits in social-emotional reciprocity, nonverbal communication, and the development and maintenance of friendships and relationships. A diagnostic assessment will explore whether there are difficulties with reciprocal social interactions; âreadingâ social cues, context, and conventions; interpreting and expressing nonverbal communication (the range of facial expressions and gestures, and the pragmatic and prosodic aspects of language); and examination of the development and maintenance of friendships and relationships from early childhood.
Theory of Mind is the ability to (meta)represent mental states in oneself and others; impairment of this ability is integral to autism (HappĂ©, 2015), and will affect the ability to engage in reciprocal social communication, hindering the development of friendships. The autistic person may be unable to accurately identify another personâs subtle emotional state, and consequently might be considered disrespectful, rude, or lacking empathy because of their failure to read nonverbal cues in others. A number of characteristics typically affect the reciprocity and quality of conversation and social interaction. These include a disarming honesty, with a tendency to make literal interpretations of what others say. There may be a limited development of the arts of persuasion, compromise, and conflict resolution, with difficulty recognising and accepting an alternative perspective. The person may be greatly confused by idioms, figures of speech, and sarcasm.
Nevertheless, there may be a strong desire to establish social connection, but with little idea of what friendship entails. This can result in a lifelong reduction in the number, depth, and duration of friendships and relationships. During early years, the autistic child may be uninterested in establishing peer friendships, having discovered aspects of life that are more enjoyable than socialising, content with long periods of solitude engaged in collecting and collating information on a special interest that may not be shared by peers. Autistic children who do want to play and engage with peers may find their attempts to increase social integration lead to rejection and ridicule and extreme vulnerability to teasing and bullying throughout childhood.
In adolescence, friendships tend to be based on complex interpersonal needs. Typical adolescents seek confidantes who can provide emotional support. At this developmental stage, the gap in social understanding and integration with peers becomes more conspicuous for autistic adolescents, who can become overwhelmed and confused by the changing and increasingly complex nature of friendship, leading to feelings of isolation, loneliness, and depression.
During adolescence and adulthood, there may be absence or delay in the development of romantic experiences, and friendships may remain limited. However, some autistic people do achieve satisfying relationships. Their partner/s may understand autism, either because they share some of the same characteristics themselves, or because they are naturally intuitive, and compassionate in understanding their autistic partner (Attwood, 2015).
Restricted, repetitive patterns of behaviour or interests and sensory sensitivity
DSM-5 (APA, 2013) subdivides restricted, repetitive patterns of behaviour into:
- repetitive motor movements
- insistence on sameness and adherence to routines
- interests that are unusual in terms of focus or intensity
- hyper- or hypo-reactivity to sensory input.
Repetitive motor movements or mannerisms, such as flapping when distressed or excited, are usually associated with ASD Level 3, or may occur in early childhood and diminish in later childhood. At all levels of autism there is an insistence on sameness and the imposition of daily routines and rituals, with considerable distress if these are changed or prevented. Routines and rituals may be mechanisms for coping with high levels of anxiety, as they are experienced as soothing and relaxing. In daily life, and in problem solving, there can be âa one-track mindâ, with a lack of cognitive flexibility and a tendency to negative rumination. The cognitive profile associated with autism can also include being detail-focused, quickly identifying errors, patterns, and systems (Attwood, 2015).
There may be a history of collecting information and objects with unusual focus or intensity. Having an interest is a typical human characteristic, but in autism, the time engaged in the interest and the dominance of the interest in daily life are more intense. Interests may last for hours or decades, and adults may have several concurrent interests. A special interest has many functions, such as being a âthought blockerâ for anxiety, an energy restorative after the exhaustion of socialising, and an extremely enjoyable activity counteracting depression. Some interests involve the creation of an intricate, alternative imaginary world that is more accommodating of the characteristics of autism. Interests can also create a sense of identity and achievement, and provide opportunity for making like-minded friends, and social status in a peer group. The sense of enjoyment or euphoria associated with the interest can become almost addictive. A special interest may contribute to the development of talents in science and the arts (Fitzgerald, 2005; James, 2006).
DSM-5 includes sensory sensitivity as one of the key characteristics of autism. Research indicates that atypical sensory experience may occur in as many as 90% of autistic individuals and affects every sensory modality (Robertson & Baron-Cohen, 2017). In some cases, the person experiences a âsensory avalancheâ, contributing to a meltdown or to sensory fascination (Smith & Sharp, 2013). Specific sensory experiences that are extremely aversive may form the basis of the development of a phobia (Ozsivadjian et al., 2012). We have yet to achieve an understanding of why autistic people have atypical patterns of sensory sensitivity (Crane et al., 2009; Tavassoli et al., 2014) based on neural foundations and explanations (Marco et al., 2011). Sensitivities may be to environmental stimuli unnoticed by others (such as perfume, flickering lights, or sounds). In contrast, there may be a lack of perception of low levels of ordinary bodily sensations, or pain and discomfort. Sensitivity to external sensory experiences may be heightened, alongside reduced sensitivity to internal experiences (interoception), including the perception and recognition of internal emotional states.
Alexithymia
Recent research has explored the association between autism and alexithymia â the inability to recognise and describe oneâs own emotions (e.g., Kinnaird et al., 2019). Alexithymia is neither exclusive to autism, nor apparent in all autistic adults. Where present, alexithymia limits the ability to distinguish and identify cognitions and bodily sensations (both positive and negative), and to translate those feelings and thoughts into a coherent narrative using a precise and subtle vocabulary, in turn increasing the difficulty for others in understanding what the autistic person is feeling. Such misunderstanding can lead to a breakdown in communication and...