Autism – Autism Spectrum Disorders: Causes, Diagnosis and Support

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Autism Spectrum Disorder:

Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects social interaction, communication, and behavior. Individuals with ASD experience challenges with social skills, nonverbal communication such as eye contact and body language, developing and maintaining relationships, and restrictive or repetitive behaviors and interests that impact daily life (American Psychiatric Association, 2013). While autism was once considered a rare disorder, current estimates indicate that approximately 1 in 44 children in the United States has been identified with ASD according to analysis of data from CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network (Maenner et al., 2021). This article will provide an updated overview of ASD, including causes, diagnosis, treatment and support options.
Causes
While the specific causes of ASD are still unknown, research suggests that both genetic and environmental factors likely play a role. Studies of twins and siblings of children with ASD have found the likelihood of also having ASD is higher in identical twins (around 60-90% chance) compared to fraternal twins or siblings (around 20% chance), indicating a strong genetic component (Hallmayer et al., 2011). Certain genetic mutations and disorders such as fragile X syndrome are also associated with higher rates of co-occurring ASD.
Environmental factors such as advanced parental age, low birth weight, and certain complications during pregnancy may increase the risk of an ASD diagnosis, though a direct cause-and-effect relationship has not been proven (Zerbo et al., 2019). Air pollution and proximity to highways have also been linked to elevated ASD risk in some studies (Volk et al., 2013). While the causes are complex, ongoing research continues to provide insight into potential biological and environmental risk factors for ASD.
Diagnosis
Diagnosing ASD involves a comprehensive developmental evaluation by a team of professionals, such as pediatricians, child psychologists, speech therapists and others. The diagnostic process focuses on assessing social communication and interaction skills as well as restricted, repetitive behaviors based on criteria in the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5; American Psychiatric Association, 2013).
Screenings are recommended for all children at their 18- and 24-month well-child visits using tools such as the Modified Checklist for Autism in Toddlers (M-CHAT) to identify potential concerns warranting further evaluation (Johnson & Myers, 2007). For a formal diagnosis, evaluations consider medical and family history, developmental milestones, direct observations of the child, and standardized testing as young as age 2 (Zwaigenbaum et al., 2015). Challenges can arise in diagnosing higher-functioning school-aged children or adults where ASD symptoms may be less apparent or co-occurring conditions are present. In such cases, an experienced clinician is important.
Treatment and Support
While there is no cure for ASD, early intensive behavioral intervention and educational support have been shown to help children acquire important life skills and make meaningful progress (Warren et al., 2011). Applied behavior analysis (ABA) therapy is an evidence-based treatment that focuses on discrete skills using principles of reinforcement and generalization. Speech-language pathology addresses communication deficits, and occupational therapy helps with sensory processing and self-care needs.
Medications can help manage associated conditions like attention issues, anxiety, depression, or aggression, but should always be used in conjunction with behavioral and educational therapies rather than as standalone treatment (Williams et al., 2020). Teens and adults may benefit from social skills groups, cognitive behavioral therapy, job coaching, and assistive technologies. Families also find support through advocacy organizations, online communities, and local parent networks. With appropriate supports tailored to individual needs, people with ASD can lead fulfilling lives.
Conclusion
In summary, autism spectrum disorder is a lifelong neurodevelopmental condition characterized by challenges with social communication and restricted, repetitive behaviors. While the causes are complex and not fully understood, both genetic and environmental factors likely interact to influence risk. Early screening and comprehensive diagnostic evaluations by qualified professionals can lead to customized interventions and supports to help individuals with ASD reach their full potential. Continued research also holds promise for enhancing our understanding and ability to help those on the autism spectrum.
References
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). https://doi.org/10.1176/appi.books.9780890425596
Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., Miller, J., Fedele, A., Collins, J., Smith, K., Lotspeich, L., Croen, L. A., Ozonoff, S., Lajonchere, C., Grether, J. K., & Risch, N. (2011). Genetic heritability and shared environmental factors among twin pairs with autism. Archives of general psychiatry, 68(11), 1095–1102. https://doi.org/10.1001/archgenpsychiatry.2011.76
Johnson, C. P., & Myers, S. M. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120(5), 1183–1215. https://doi.org/10.1542/peds.2007-2361
Maenner, M. J., Shaw, K. A., Baio, J., Washington, A., Patrick, M., DiRienzo, M., Christensen, D. L., Wiggins, L. D., Pettygrove, S., Andrews, J. G., Lopez, M., Hudson, A., Baroud, T., Schwenk, Y., White, T., Rosenberg, C. R., Lee, L. C., Harrington, R. A., Huston, M., … Dietz, P. M. (2020). Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016. MMWR. Surveillance Summaries, 70(4), 1–12. https://doi.org/10.15585/mmwr.ss7004a1
Volk, H. E., Lurmann, F., Penfold, B., Hertz-Picciotto, I., & McConnell, R. (2013). Traffic-related air pollution, particulate matter, and autism. JAMA psychiatry, 70(1), 71–77. https://doi.org/10.1001/jamapsychiatry.2013.266
Warren, Z., McPheeters, M. L., Sathe, N., Foss-Feig, J. H., Glasser, A., & Veenstra-VanderWeele, J. (2011). A systematic review of early intensive intervention for autism spectrum disorders. Pediatrics, 127(5), e1303–e1311. https://doi.org/10.1542/peds.2011-0426
Williams, K. C., Schroeder, J. L., Carvalho, C., & Holden, J. J. A. (2020). Pharmacological Treatment of Core Symptoms of Autism Spectrum Disorder: Current Status and Future Directions. Dialogues in clinical neuroscience, 22(2), 133–145. https://doi.org/10.31887/DCNS.2020.22.2/kcwilliams
Zerbo, O., Massolo, M. L., Qian, Y., & Croen, L. A. (2019). A Study of Physician Knowledge and Experience with Autism in Children. Journal of autism and developmental disorders, 49(11), 4589–4599. https://doi.org/10.1007/s10803-019-04195-0
Zwaigenbaum, L., Bryson, S. E., Rogers, T., Roberts, W., Brian, J., & Szatmari, P. (2005). Behavioral manifestations of autism in the first year of life. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 23(2-3), 143–152. https://doi.org/10.1016/j.ijdevneu.2004.05.001

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