Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that impairs the individual’s ability to learn language and social communication skills, and manifests different restricted repetitive behaviors. The common trend is that parents learn their child has ASD after taking them to a screening (Macke et al., 2021). While the screening is not mandatory, several neurodevelopmental deficits result in a screening, if only to eliminate ASD. Even then, Horwitz et al. (2020) performed a study to understand the emergence of ASD in adults. While mainstream research on ASD is focused on children (whose symptoms are easy to identify and diagnose), Horwitz et al. (2020) demonstrated that ASD can also present in adulthood. At that time the instruments used for diagnosis are not reliable as they were designed for children. Regardless of when ASD presents, a deep understanding of the condition and its prevention is important because its prevalence in the US has been increasing in the last few decades.
Discussion
Prevalence of ASD
As noted in the introduction, ASD mostly presents in early childhood, but there have been cases where the condition presents in adulthood. Regardless of when ASD presents, its signs and symptoms differ from one individual to another. According to the Centers for Disease Control and Prevention (CDC), one of 59 children is diagnosed with ASD (Benedetto et al., 2021). Furthermore, the prevalence of the condition is equally distributed and does not affect one race, ethnic group, or even individuals from one socioeconomic group more than the other. In the last few decades, research has demonstrated that the prevalence of ASD have been increasing due to various reasons (Feige et al., 2021). One of the main reasons has been recent revisions and broadening in the diagnostic criteria for ASD for improved case recognition. Another reason has been from the differences in treatment between males and females. From the perspective of camouflaging theory, females are more likely to hide their neurodevelopmental deficits so they can fit better in social conditions. As a result, ASD can be easily and accurately diagnosed in males than in females (Feige et al., 2021). Previously, it was four time more likely for a male to be diagnosed with ASD than a female (Horwitz et al., 2021; Feige et al., 2021). With the broadening of the diagnostic criteria, more females are being diagnosed, resulting in the perceived increase in the prevalence of ASD.
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Pathogenesis
Mainstream research has looked into two main causative factors for autism spectrum disorder, both in children and adults. The first cause studied to be proposed was genetics. Researchers in this case set out to establish the heterogeneity of individuals diagnosed with ASD and find contributing genetic factors. The results have been inconsistent and leading to diverging conclusions and research directions. For instance, Bolte et al. (2019) concluded that there was a relationship between autism phenotypes and other genetic and environmental factors that resulted in the manifestation of ASD. The limitations of their conclusion is that they did not demonstrate understanding of the causal mechanisms. On the other and Yates & Le Couteur (2016) correlated genetic variations in 10% of the individuals diagnosed with ASD. They also correlated the age of the parents with a higher risk of autism, mostly doe to de novo spontaneous mutations or increased error rates during genetic imprinting. Furthermore, up to 19% of the individuals diagnosed with ASD were linked to high recurrence rates among siblings. Newer research directions on the etiology and pathogenesis of ASD is looking into the different neurological differences as causative factors (Feige et al., 2021). While these new research directions are less likely to produce consistent data with previous studies, they will contribute to the body of knowledge on ASD.
The second cause of ASD has been linked to environmental causes. For instance, pre, peri, and postnatal exposure to different neurotoxicants present in the environment have been linked to an increased prevalence of ASD (Feige et al., 2021). The pathogenesis of these neurotoxicants is that their influence or inhibit brain development, especially the brain biochemistry. Any neurodevelopmental deficiencies manifest as ASD. This also explains how and why ASD manifests differently from one individual to another. Among the most common environmentally ubiquitous neurotoxicants are air pollutions, toxic chemicals in consumer products, heavy metals, and pesticides. Feige et al. (2021) notes that though research on the environmental factors that contributes to ASD is on the rise, it is not conducted independently. Instead, new research studies are multifactorial, in that they look into both the genetic and environmental factors that cause or increase the observed prevalence of ASD.
Diagnosing ASD
ASD is a lifelong chronic disability whose main diagnostic instrument is DSM-V. The earlier ASD is diagnosed in a child, the better their chances that the treatment prescribed will be effective, resulting in positive short and long-term outcomes coupled with in improved quality of life (Benedetto et al., 2021). Through the guidelines and criteria outlined by the DSM-V, there is a high likelihood that ASD can be diagnosed and treated from an early age. Through the Individuals with Disabilities Education Act (IDEA), government regulations specify which interventions are mandatory for specific patients based on their age (Feige et al., 2021). Note, however, that the DSM-V criteria is not the only diagnostic instrument to aid in the early diagnosis of ASD. According to Benedetto et al. (2021), other standardized diagnostic assessment criteria are outlined by the Autism Diagnostic Observation Schedule-Toddler (ADOS-T). When combined with expert clinical experience and opinion, the reliability of the instruments can be as early as two years old toddlers.
Prevention Strategies for ASD
The commonly adapted approaches for preventing or lowering the prevalence of ASD are classified in three levels. First, there are the interventions that reduce the prevalence of the condition at the population level (Francis et al., 2021). The second level involves interventions that target at-risk populations to reduce the prevalence and severity of ASD. Lastly, there are interventions that target individuals diagnosed with ASD and helps them with functional adaptations that improve their wellbeing (Francis et al., 2021). While it is not possible to exhaust all interventions at all levels, this section will briefly discuss some of the most important ones.
Preconception and Perinatal Interventions
As discussed in the previous sections, the causes of ASD are multifactorial, involving the complex interaction between environmental and genetic factors. For instance, the parental age is a risk factor for ASD, thus parents are advised to have children when young to reduce the prevalence of the condition. Other lifestyle behaviors like smoking when pregnant is also not recommended has it has been demonstrated to increase the risk of behavioral problems and Attention Deficit Hyperactivity Disorder (ADHD; Francis et al., 2021). Parents should also consider longer interpregnancy intervals greater than a year to reduce the risk of autism.
Preschool and Prepubertal Periods
The majority of interventions that increase adaptive functioning among individuals diagnosed with ASD target preschool and prepubertal children. These interventions have several goals. First, they help ensure the child’s future autonomy is virtually guaranteed (Francis et al., 2021). This is done by improving the children’s communication and social skills. Furthermore, there are interventions that assess and target the individual’s activities of daily living as they are an essential component of autonomy. The second goal targets challenging behaviors by minimizing their emergence. Examples of such interventions include the Picture Exchange Communication System (PECS) that helps the individuals identify and manage anxiety. Minimizing the emergence of challenging behaviors also helps to prevent the emergence of psychiatric comorbidities and other physiological conditions like seizures, insomnia, learning disorders, and intellectual disabilities (Francis et al., 2021).
The third goal of preschool and prepubertal interventions is to ensure that the parents accept, engage, and support their children. Parents are indispensable in the treatment and management of ASD, especially when they are responsible for teaching their child the necessary social and communication skill. After all, in the prepubertal period, parents have the greatest influence over their child’s development, including their future autonomy.
Conclusion
In summary, ASD is a neurodevelopmental disorder that impairs the individual’s ability to learn language and social communication skills, and manifests different restricted repetitive behaviors. The increased prevalence of the condition is attributed to multifactorial root causes, both genetic and environmental. Air pollutions, toxic chemicals in consumer products, heavy metals, and pesticides are the most common neurotoxicants commonly found in the environment and have been correlated with increased risk of ASD upon exposure. Apart from understanding the prevalence and root causes of ASD, the biggest personal gains from the research have been in the prevention of ASD. I discovered a high diversity of interventions designed to help prevent or manage ASD from multiple perspectives. For instance, there are interventions to prevent ASD in the preconception and perinatal stages as well as strategies targeting individuals with ASD to help them become functioning members of society.
References
Benedetto, L., Cucinotta, F., Maggio, R., Germanò, E., De Raco, R., Alquino, A., ... & Gagliano, A. (2021). One-Year Follow-Up Diagnostic Stability of Autism Spectrum Disorder Diagnosis in a Clinical Sample of Children and Toddlers. Brain Sciences , 11 (1), 37.
Bölte, S., Girdler, S., & Marschik, P. B. (2019). The contribution of environmental exposure to the etiology of autism spectrum disorder. Cellular and Molecular Life Sciences , 76 (7), 1275-1297.
Feige, E., Mattingly, R., Pitts, T., & Smith, A. F. (2021). Autism Spectrum Disorder: Investigating Predictive Adaptive Behavior Skill Deficits in Young Children. Autism Research and Treatment , 2021 .
Francis, K., Karantanos, G., Al-Ozairi, A., & AlKhadhari, S. (2021). Prevention in Autism Spectrum Disorder: A Lifelong Focused Approach. Brain Sciences , 11 (2), 151.
Horwitz, E. H., Schoevers, R. A., Greaves-Lord, K., de Bildt, A., & Hartman, C. A. (2020). Adult Manifestation of Milder Forms of Autism Spectrum Disorder; Autistic and Non-autistic Psychopathology. Journal of autism and developmental disorders , 1-14.
Mackie, T. I., Schaefer, A. J., Ramella, L., Carter, A. S., Eisenhower, A., Jimenez, M. E., ... & Sheldrick, R. C. (2021). Understanding how parents make meaning of their child’s behaviors during screening for autism spectrum disorders: A longitudinal qualitative investigation. Journal of autism and developmental disorders , 51 (3), 906-921.
Yates, K., & Le Couteur, A. (2016). Diagnosing autism/autism spectrum disorders. Paediatrics and Child Health , 26 (12), 513-518.