Basic and advanced knowledge on autism - Module 1
4. HETEROGENEITY
The autism spectrum disorder is very heterogeneous, not only in the domain of clinical manifestations, different time of onset of first symptoms and uneven gender distribution, but also in presumed risk factors and etiopathogenesis. Autism can be accompanied by any form of intellectual and speech-language functioning. Therefore, five diagnostic subcategories for ASD have been identified in the World Health Organization’s International Classification of Diseases ICD-11 (WHO, 2018). Three subcategories are persons with a harmonized relationship of intellectual and linguistic functioning: individuals with intellectual disabilities without developed speech; people with intellectual disabilities and functional language impairment, as well as people of average intelligence with well-developed speech and language skills. There are also two discrepant profiles. The former are persons of preserved intelligence with functional language impairment, while the latter profile of reduced intellectual functioning accompanied by well-developed structural aspects of language is rarely described in the literature. Some authors (Silleresi et al., 2020) within the verbal part of the spectrum identify another profile made up of people with above-average intellectual abilities and developed structural aspects of language. Only the main subcategories are listed here, and within each of them there are numerous variations in the degree of development of phonological, morphosyntactic, pragmatic and intellectual abilities. When this is joined by differences in the degree of manifestation of stereotypical behavior, sensory sensitivity, comorbid states and numerous other factors, it is clear why we are talking about the spectrum of disorders.
The onset of behavioral signs of ASD can occur in three ways. There are children who have already shown some forms of autistic behavior in the first year of life. The second, regressive type of autism, refers to children in whom, after a period of typical development, there is a loss of developed social communication skills and the emergence of stereotypes. Recent research shows that regressive onset occurs much more often than previously thought. The third, less frequently described pattern refers to children who stagnated after a period of typical development, so that they did not progress in the expected way (Ozonoff, & Iosif, 2019).
Within the autism spectrum, there are many more males than females. This ratio is usually considered to be 4-5: 1. One of the possible explanations is the existence of the so-called female protective factor, which implies that females require a much higher degree of genetic burden and/or the action of other risk factors for autism to manifest. However, the actual relationship could be somewhat different. Modern studies conducted in the Nordic countries show that the ratio of men and women with autism is actually 2-3: 1. It is believed that there are more females with autism than was previously thought, but that they are diagnosed late, both because of specific clinical manifestations and because of the tendency to camouflage. Compared to school-age boys from the autism spectrum, girls of the same age better integrate verbal and nonverbal behavior, have better imagination, initiate and maintain reciprocal conversation and make friendships more easily, but have great difficulty retaining them. In minimally verbal persons with autism, no significant gender differences in social communication and interactions, stereotypes, cognitive and adaptive functioning were observed. However, women with high-functioning autism have, as a rule, fewer stereotypes than men, and it is possible that they differ according to the form of stereotypical activities. Compared to men, they have more sensory problems, and the occurrence of compulsions and self-harm is more common (Lai et al., 2017; Lai, & Szatmari, 2020). High-functioning people with autism sometimes resort to camouflage (covering up symptoms) in order to fit in with society. Women tend to mask symptoms and do so in a variety of ways: making eye contact, using learned and prepared phrases, mimicking other people's behavior, including facial expression, taking care of appropriate spatial distance during conversation, and the appropriateness of topics. Because camouflage requires enormous cognitive effort, they are exposed to greater stress, anxiety, and depressive reactions (Lai et al., 2017).
Within the autism spectrum, there is a huge heterogeneity in relation to the share of genetic factors in the development of autism, clinical picture, outcomes and prognosis. The etiology of autism is very complex and is influenced by numerous factors. In most cases, autism cannot be reported in connection with any condition of known etiology, and then we talk about idiopathic autism. We use the term syndromic autism when autism is associated with a condition of known etiology, such as a fragile X chromosome, tuberous sclerosis, or Down syndrome. The risk that a brother or sister of a child with idiopathic autism will have autism itself ranges from 3% to 10%, and if a broader autistic phenotype is observed, then the risk rises to more than 18% (Ozonoff et al., 2011). Genetic testing does not indicate a unique pattern of inheritance in autism. While in some cases autism is accompanied by monogenic conditions, various forms of polygenic inheritance are also registered. Research also indicates a certain role of de novo mutations, as well as the possible significance of epigenetic factors. Epigenetic mechanisms are biochemical modifications of DNA or histones that do not alter DNA sequences, but only affect gene expression. Different etiological factors can cause the appearance of the same or similar phenotypic manifestations (Hervás, 2016).