SN is an 11-year-old male recently diagnosed with Autistic Spectrum Disorder (ASD). He has a twin sister who was diagnosed with childhood-onset schizophrenia, and his mother suffered a bout of postpartum depression which later developed into chronic depression. He is a final year primary school student, and they live with their parents in a flat. SN experiences anxiety and has recently started crying and locking himself in his room when asked to go to school. His academic performance has deteriorated, and he has difficulties dealing with a variety of social situations. The evaluation of this case study will involve the identification of specific problems, the assessment of risk factors, and a review of models of abnormality. In addition, discussing the comorbidities and how nature and nurture factor into the pathogenesis of SN’s illness will be prioritised. While the exact pathogenetic mechanism of ASD is unknown, a complex network of genetic and environmental factors contributes to its development.
What is the Problem?
The patient is experiencing difficulties in view of the fact that he refuses to attend school and has developed depression and anxiety attacks. In addition, the recent diagnosis with ASD is worsened by the fact that his parents are permissive, his mother is depressed, and the COVID 19 pandemic has necessitated a prolonged stay at home, which limits socialisation.
What childhood factors/issues are risk factors here?
Autism Spectrum Disorder is a complicated biological condition characterised by the manifestation of specific behavioural patterns in early childhood as a result of the interaction between environmental and genetic risk factors. The prevalence of ASD is on the rise, with estimates indicating that 1 in every 59 eight-year-old is affected by the condition (Gialloreti et al., 2019). It is associated with significant family, caregiver and financial burdens (Lyall et al., 2017). Even though the disease’s aetiology is poorly understood, genetics is a well-known risk factor. It is worth noting that genetically susceptible individuals experience worse symptoms when exposed to environments that facilitate the development of the illness (Karimi et al., 2017). During critical phases of nervous system development, exposure to environmental agents such as microbes and medications significantly impact neurobiological development (Miller-Perrin, 2013). It is worth noting that in SN’s case, there is a genetic history of psychiatric conditions. His mother was diagnosed with postpartum depression, which eventually evolved into chronic depression, while his sister was diagnosed with schizophrenia. Other risk factors that could potentially be implicated in this case include advanced maternal age and the mode of delivery. Generally, mothers who get pregnant when they are older than 35 years stand a higher chance of delivering babies with ASD. This is because the elevated levels of denovo mutations lead to genetic and chromosomal abnormalities that lead to ASD (Gialloreti et al., 2019). In addition, older individuals are more susceptible to chronic diseases and provide less than ideal uterine conditions, which may lead to undesirable birth outcomes.
It is believed that variations in oxytocin levels during caesarean deliveries are linked to the behavioural dysfunction associated with ASD. The COVID 19 pandemic served as an additional environmental stressor in view of the fact that it limited social interaction and may have aggravated his mother’s depression. As a result, SN was denied an opportunity to develop the social skills required to stall the development of ASD. The environment created by his parents further facilitated the worsening of his condition. The lack of boundaries and rules governing behaviour facilitated the manifestation of the illness.
What models of abnormality can be applied here?
The biopsychosocial model is the most appropriate model of abnormality in SN’s case. It evaluates the connection between an individual’s biological, psychological and environmental determinants of health. ASD affects overall development and is associated with impaired social development, limited verbal and non-verbal communication skills, repetitive mannerisms and a limited scope of interest (Combrinck-Graham, 2006). The biological aspect of the model emphasises how the functioning and connectivity between various cortical networks impact language, social perception, cognition and working memory. After delivery, most babies pay close attention to their mothers’ or caregivers’ faces, which is a critical aspect of social development. Autistic individuals show no activation in the region of the brain that is responsible for the recognition of facial features though the maintenance of eye contact.
The psychological aspect of the aforementioned model explains the social deficits associated with ASD. This area has received significant interest leading to the postulation of a variety of neurocognitive theories (Dogra et al., 2017). For instance, the Theory of the Mind places emphasis on specific ideas regarding mental states that facilitate the understanding of behavioural patterns (Tsoukalas, 2018). The central coherence theory attempts to explain how individuals integrate information into meaningful data at the conceptual and perceptual level. Therefore, weak coherence is associated with difficulties in understanding the stimuli in the affected individual’s environment (Delli et al., 2017). Therefore, the world is seen as a series of disconnected parts, which creates numerous social challenges for autistic individuals (Cattan & Tilford, 2006). ASD is also characterised by the inability to self-regulate, plan or inhibit specific impulses. This significantly impacts their ability to communicate and relate with others in a variety of contexts.
The social determinants impacting the development of ASD in SN’s case include the permissive parenting environment and the social isolation occasioned by the COVID 19 pandemic. The lack of rules and guidelines led to the development of maladaptive behaviours such as refusing to attend school, locking himself in rooms and crying whenever he is forced to do something he is unwilling to do. In addition, his mother’s depression and his sister’s schizophrenia have directly impacted SN’s condition.
Comorbidities in Autism Spectrum Disorders
Autistic individuals are often affected by conditions such as anxiety and depression. The affected individuals may experience an increase in obsessions, rituals and may lose interest in activities that brought them pleasure (Vazquez-Villagran et al., 2017). Agitation and the predisposition to self-injury may increase in patients diagnosed with both depression and ASD. The prevalence of comorbid psychiatric conditions in individuals with ASD is on the rise when compared to the general population. A longitudinal study involving 6091 adolescents with and without ASD examined the link with depression over the course of eight years (DeFilippis, 2018). The results indicated that adolescents with ASD had higher rates of depression than the general population at ten years and continued to worsen until they got to 18 years of age (DeFilippis, 2018). There is a high probability that SN is likely to develop depression and anxiety as a result of his diagnosis. He is already showing signs such as locking himself in rooms, crying and refusing to go to school. He also demonstrates signs of withdrawal by refusing to engage with others in social contexts.
Nature Vs Nurture
The debate on the aetiology of ASD has often considered two extremes. The first is the idea that the condition is caused by a specific genetic abnormality, while the second is that it is the result of certain environmental factors such as the absence of maternal warmth. Both genetic factors and parental influence play a critical role in the development of ASD (Beauchaine&Hinshaw, 2017). Generic markers for ASD have been identified over the past few years. However, these factors do not exist in isolation and often require input from the affected individual’s environment. Nurture impacts the pathogenesis of ASD, seeing as affected individuals often hail from families experiencing significant strife. SN’s mother’s depression may have contributed to reduced maternal attention, which, in turn, played a role in the worsening of his ASD. In addition, the lack of parental guidance is a major contributor to the challenges encountered with regard to the development of social skills and language. SN subsequently failed to develop the social programming necessary for effective psychological functioning.
SN’s mother exhibits characteristics that mimic autistic behaviour. For instance, she is disturbed by the idea of change and is hesitant to move from their flat to a house with a garden. This behavioural rigidity significantly impacted SN’s psychological development, given that he is genetically predisposed to the development of ASD. Therefore, this case demonstrates the interaction between nature and nurture is the pathogenesis of ASD.
The interplay between genetic and environmental factors must be considered when assessing the pathogenesis of Autism Spectrum Disorders. While specific genes have been linked to the illness, they seldom work in isolation. It is evident that maternal depression, the COVID 19 pandemic and a permissive parenting style impact the development of ASD in this case study. Therefore, nature and nurture are essential in the development of the disease since varied environmental and biological elements interact during its pathogenetic course.
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