Genetic & Environmental Factors in Autism Etiology - Essay Sample

Introduction

The etiology of autism comprises many factors that are either genetic or environmental (Jure, 2019). Most common genetically predisposition disorders are the fragile X syndrome and tuberous sclerosis (Percy, Chapleau, Lane & Pozzo-Miller, 2014). Environmental factors attributed as causative agents of autism can be classified into pre-natal, peri-natal, and post-natal (Herbert, 2019). Exposure to toxic pesticides and teratogen, and also congenital rubella syndrome are the most cited pre-natal environmental factors (Mostafalou & Abdollahi, 2018). Peri-natal environmental causative factors include low birth weight, and abnormalities in the length of gestation (Jure, 2019). According to Armstrong et al., (2019), viral infections, low levels of vitamin D, and low immunity levels are some of the widely mentioned post-natal causative factors of autism and its disorders.

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The pathogenesis of autism can be narrowed down to lack of or interruption of the development process of the brain and further impairment of the cerebral unit of the mind. Neural connectivity is a common approach that is used to explain the pathogenesis of autism (Jure, 2019). The theory postulates that over/under development and over/underconnectivity of the large/small number of neurons found in the brain of autistic children hinders the communication between different parts of the brain. This brings to our attention the fact that autism spectrum disorders are not caused by a defect in a single region of the brain, but by neuro connectivity defects in multiple parts of the cortex (Armstrong et al., 2019). This is attributed as the cause of the communication and socialization deficits exhibited by autistic children and young adults.

Neural migration is another approach that is used to explain the anatomy and pathogenesis of autistic spectrum disorders. Various Scholars believe that the process of movement of neurons to the cerebral cortex through the initial six months of the pregnancy could be the cause of poor development of the cerebral region of the brain. MRI and CT imaging reveals darkened cortex, weak brain boundary formations, among other abnormalities in brain pattern (Angulo, 2018). Postmortem Lab examinations of the brain of an autistic patient reveal high neural density and ectopic grey brain matter. Further, the levels of Reelin are significantly small. Reelin is a crucial protein in the neurogenesis and positioning of brain cells in the first six months of the gestation (Armstrong, Anderson & McDermott, 2019). The neuroimmune system is also another factor that is considered highly significant in the pathogenesis of autism. Reduced levels of T-helper cells, below average CD4+ lymphocytes, imbalanced levels of antibodies, suppressed cell-mediated immunity could be related to autism.

According to Sharma et al. (2018), there is no specialized medical process for diagnosing and treating ASD. Additionally, the severity of the autism conditions varies dynamically, making it hard for nursing practitioners to make accurate diagnosis and prognosis (Herbert, 2019). Children or adolescents can, however, be diagnosed by observing their socialization and communication behaviors as they grow (Angulo, 2018). Hearing, speaking, and language skills are some of the tests that could be administered to evaluate the communication skills of children. The diagnostic and statistical manual of mental disorders (DSM-5) provides recommended procedures and criteria for diagnosis ASD (Lawson, 2013). Percy et al. (2014) suggest that genetic testing for Rett syndrome or fragile X syndrome could be used to test children for genetic disorders, which are linked to ASD. Therapies meant to help autistic children include behavior and communication-based interventions; educative treatments; and family therapies. Various prescription medications such as antipsychotics, antidepressants, and other supplements may be administered to ease the effects of multiple symptoms of ASD.

The medical complications that ASD patients may suffer from include epilepsy, insomnia, and digestive complications (Herbert, 2019). Children with ASD also have difficulties understanding the changes that their bodies go through as they transition to adulthood (Huang, 2019). These changes further complicate their emotional status. Additionally, children with ASD may experience different mental illnesses, such as anxiety and depression (Lawson, 2013). These conditions can be treated or managed through the help of medical and psychiatric experts.

Conclusion

To sum up, although different approaches have been used to explain the pathogenesis of autism spectrum disorder, the evidence they present is not sufficient to devise an effective preventive, diagnosis, prognosis, and treatment procedure (John Watts, 2019). As the rate of ASD cases continues to increase, there is still no hope for parents and caregivers of children and young adults with such conditions for a reliable process. Parents, caregivers, and nursing practitioners only rely on therapeutic procedures to reduce the implications of ASD. Further scientific research has to be done to improve the prevention, diagnosis, prognosis, and treatment of ASD.

Questions

• What do you think should be done to ensure that ASD cases among children and young adults are detected early?
• What therapies would you recommend for children and adolescents with ASD having difficulties transitioning to adolescent and adult stages, respectively?

References

Angulo, A. (2018). Screening and Assessment of Autism Spectrum Disorders. In Handbook of Pediatric Psychological Screening and Assessment in Primary Care (pp. 424-432). Routledge.

Armstrong, N. C., Anderson, R. C., & McDermott, K. W. (2019). Reelin: Diverse roles in central nervous system development, health, and disease. The international journal of biochemistry & cell biology, 112, 72-75.

Herbert, M. (2019). Retrieved 30 August 2019, from http://www.marthaherbert.org/library/Herbert_Ch18_PathophysAutism-Chauhanvolume-1nfb1.pdfHuang, Y. (2019). Coping Strategies, Anxiety, and Transition Readiness: A Test of Mediation in Adolescents with Chronic Conditions (Doctoral dissertation, The University of North Carolina at Chapel Hill).

John Watts, T. (2019). Retrieved 30 August 2019, from https://www.scienceopen.com/document_file/290cc6a8-2d26-4e02-ac21-c7693323c98b/PubMedCentral/290cc6a8-2d26-4e02-ac21-c7693323c98b.pdfJure, R. (2019). Autism Pathogenesis: The Superior Colliculus. Frontiers in Neuroscience, 12. doi: 10.3389/fnins.2018.01029

Lawson, W. (2013). Autism spectrum conditions: the pathophysiological basis for inattention and the new Diagnostic and Statistical Manual of Mental Disorders (DSM-V). OA Autism, 1(1). doi: 10.13172/2052-7810-1-1-343

Mostafalou, S., & Abdollahi, M. (2018). The link of organophosphorus pesticides with neurodegenerative and neurodevelopmental diseases based on evidence and mechanisms. Toxicology, 409, 44-52.

Percy, A. K., Chapleau, C., Lane, J. B., & Pozzo-Miller, L. (2014). Defining and Diagnosing Rett Syndrome: Correlating Symptoms and Pathogenesis with Autism. Comprehensive Guide to Autism, 2581-2601. doi: 10.1007/978-1-4614-4788-7_88

Sharma, S. R., Gonda, X., & Tarazi, F. I. (2018). Autism spectrum disorder: classification, diagnosis, and therapy. Pharmacology & therapeutics, 190, 91-104.