Essay on Autism Spectrum of Disorders

Autism spectrum of disorders entails a neurodevelopmental problem characterized by the child having some impairment in social communication and exhibition of restricted interest and some repetitive behaviors. Chiarotti & Venerosi (2020) assert that the overall effect is that the child encounters some challenges to thrive in various environmental settings that usually necessitates special attention to improve their quality of life. It is a highly prevalent disease affecting a considerable portion of children at a global level. According to a report by the centers for disease prevention and control, there has been a notable rise in the condition’s prevalence in the recent past. The causation of the disease is usually multifactorial, whereby the genetic and environmental factors come into play to shape the risk of developing the condition. Understanding such measures is key since it allows one to formulate ways to protect genetically predisposed individuals from developing such conditions. The clinician needs to be well acquainted with the skill of evaluating the individuals for the condition whereby they can screen the patient for the development of the condition and refer the patient for a close follow-up for management. The main aim of this paper is to critically review various aspects of the autism spectrum of disorders and offer a recommendation that would improve the situation among the affected individuals and curb the rising prevalence.

Epidemiology

According to a report by the World health organization, the prevalence of ASD usually accounts for up to 0.76% of the global population that usually accounts for around 16% of the children population at an international level. Further, the centers of disease prevalence and control report highlights that the prevalence in the United States is up to 1.68% of children eight years that is roughly one out of every 59 children. Further, the report compares the prevalence of ASD through two reports, whereby one indicates the data from the 2012 survey and the second one indicates the data from the 2016 survey. There was a percentage increment of up to 2.5% in cases of ASD. Such a high increment indicates a continued rise in the prevalence, and it necessitated a prompt intervention to reverse the trend.

Pathophysiology

ASD refers to a neurodevelopmental disorder caused by both environmental and genetic factors altering brain development. The neurodevelopmental defects start in early childhood and are portrayed by social communication impairment and behavior problems such as repetitive habits and restricted interests. Numerous genes have been linked with ASD pathogenesis, of which most are engaged in neuronal synaptogenesis. Genetics play a significant role in ASD susceptibility, with siblings of those with ASD having an intensified risk of ASD than the general public. Twin research has demonstrated a formidable susceptibility to inheritance in ASD. The genes that play an essential role in ASD encompass those that perform a role in neurotransmission. Besides, genes that impact neuronal excitability and those that perform a role in brain development. Most genetic modifications linked with ASD encrypt proteins that play a significant role in the neuronal synapse. The genetic risk may be regulated by perinatal, prenatal, and postnatal environmental determinants. Prenatal contact with valproic acid and thalidomide has resulted in elevated risks of ASD. Besides, prenatal folic acid supplements in individuals taking antiepileptic therapy decrease the risk (Hodges et al., 2020). ASD can also arise from advanced paternal and maternal age. Maternal infections and immune stimulation during pregnancy may also predispose to ASD. Also, longer and shorter inter-pregnancy periods intensify the risk of ASD. Premature infants also have greater risks of ASD and other neurodevelopmental ailments. Human genetic studies have demonstrated gene mutations and rare gene modifications leading to abnormal alleles in the individual or close ancestry that impacts behavioral and neuroanatomical characteristics. Autism is involved with gene dysregulations concerned with synapse function (Liu et al., 2019). The genetic aberrations of ASD include the abnormal structure or assembly of numerous scaffolding and transmembrane proteins engaged in synaptogenesis. Besides, dysregulation of genes is concerned with the signal transduction process of synapse formation. Mitochondrial dysfunction has also been associated with several neurological ailments, including ASD.

Diagnosis

The diagnosis and the evaluation of the condition are usually made through surveillance to ensure that the clinician can detect the symptoms suggestive of the child having the autism spectrum of disorder for early intervention since earlier intervention has been shown to results in better outcomes among the patient. Based on the guidelines provided by the American Academy of Pediatrics guidelines, the surveillance process should be done at 9, 15, and 30 months to ensure that one can timely detect the neurodevelopmental defect. Some of the symptoms that might be suggestive if the child has the condition include developmental delay milestones, impaired social communication, and repetitive behaviors (Taylor et al., 2020). The detection of such symptoms should prompt the clinician to take any action for following up manage men to screen the individual for some other co-morbidities that could be causing such symptoms to the child. Before confirming the diagnosis for the condition, the pediatrician needs to take a detailed history from the mother to ensure that they confirm the period that they have been exhibiting similar symptoms. A proper conglomeration of the child’s symptoms, the physical examination, and the laboratory investigation to rule out possible general medical conditions thus form the gold standard for the diagnosis of the condition.

Management

The management of the condition is usually aimed at ensuring that one can improve the behaviors of the child through various measures such as those that help the child adapt better to the environment that they are living in. The management should thus be based on ensuring that the child can improve the social communication skills to bring about an overall enhancement in the ability of the child to interact in various situations that they find themselves in, such as the school-based setting. The genetically predisposed individuals should also be identified early enough to ensure that they are not subjected to some environmental factors that would increase the risk of developing the condition. The improvement in social skills can be made through various ways, such as those that aim at engaging the child in various play techniques to improve the overall outcomes of the child. In that regard, the management effectiveness should be evaluated by how well the ch9ld can thrive in various environments.

Recommendations Based On the Research

One of the major recommendations that can help reverse the trend in the rising number of children suffering from the autism spectrum of disorders is identifying the children genetically predisposed to developing the condition and protecting them from environmental conditions that would increase the risk. Further, with the current technological advancements, one can implement the gene-editing techniques that usually aim to ensure that the techniques can be implemented to remove the loci carrying the genes for the development of the autism spectrum of disorders. Implementing such a technique is likely to ensure a decrease in the number of individuals who are genetically predisposed to developing autism spectrum f disorders in the population, and the result is likely to be a decreased prevalence of the conditions (Fattorusso et al., 2019). Further, the children should be continually screened for early detection of the condition and early intervention. In addition to that, the children found to have the condition should be taken through some sessions aimed at improving the social communication skills and reducing the repetitive behaviors that are characteristic of individuals with autism spectrum of disorders. The overall result of implementing those measures will be to ensure an improvement in the overall quality of life among the individuals.

Conclusion

Thus, the autism spectrum of disorder is one of the neurodevelopmental conditions affecting a significantly high number of children. The condition usually results in a notable impairment n of the social communication skills and the expression of some repetitive behaviors in the child. Early screening allows for a better diagnosis of the child and offers intervention to the child. In that case, it is important to ensure that the clinician can diagnose the condition early enough and offer an intervention. Environmental factors play a key role in the causation of the disease. Thus the genetically predisposed individuals should be protected from some of the factors that might exacerbate the risk of developing the condition.

References

CDC. (2018, December 13). Autism Spectrum Disorder (ASD). Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/autism/index.html

Chiarotti, F., & Venerosi, A. (2020). Epidemiology of autism spectrum disorders: a review of worldwide prevalence estimates since 2014. Brain sciences, 10(5), 274. https://www.mdpi.com/2076-3425/10/5/274

Fattorusso, A., Di Genova, L., Dell’Isola, G. B., Mencaroni, E., & Esposito, S. (2019). Autism spectrum disorders and the gut microbiota. Nutrients, 11(3), 521. https://www.mdpi.com/2072-6643/11/3/521

Hodges, H., Fealko, C., & Soares, N. (2020). Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation. Translational Pediatrics, 9(Suppl 1), S55.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082249/

Liu, F., Li, J., Wu, F., Zheng, H., Peng, Q., & Zhou, H. (2019). Altered composition and function of intestinal microbiota in autism spectrum disorders: a systematic review. Translational psychiatry, 9(1), 1-13. https://www.nature.com/articles/s41398-019-0389-6

Taylor, M. J., Rosenqvist, M. A., Larsson, H., Gillberg, C., D’Onofrio, B. M., Lichtenstein, P., & Lundström, S. (2020). Etiology of autism spectrum disorders and autistic traits over time. JAMA Psychiatry, 77(9), 936-943. https://jamanetwork.com/journals/jamapsychiatry/article-abstract/2765489‌