Autism Spectrum Disorder (ASD)

Autism Spectrum Disorder (ASD)

Autism spectrum disorder is a collection of very complex neurodevelopment disorders. It is characterized by patterns of difficulties in social interaction and communication as well as behavior. Its symptoms appear early in childhood thus affecting the daily functioning of the child. Some of the factors implicated in the causation of the disorder include mutations, genetic factors, deletions and copy number variants (National Institute of Mental Health, 2016). However, these factors account for a minuscule portion of the cases.  Cases of Autism spectrum disorder vary from mild to profound.

The discovery that genetics have a key role in the cause of autism changed its understanding. In 1977, the first twin study in autism was published by Folstein and Rutter.  They concluded that the occurrence rate in identical twins is higher than in non-identical twins (Szatmari, 2003). The genetics involved in the disorder are complex in that the transmission does not follow any recognizable pattern.

Studies have suggested that autism is heritable though there is no explanation to prove this assertion.  A study by Timothy et Al.., (2013) on a family with three affected children and two unaffected children revealed that in both the parents and the unaffected children, the mutation was heterozygous but homozygous in all affected children ( Timothy et Al.., 2013).

Familiar factors and genetics are involved in the causation of autism. Autism has commonly been observed in twin and sib pairs. Occurrence in monozygotic twins is reported to be as high as 70 percent. For families with autistic children, members may contain autistic traits such as repetitive behavior and social isolation. Autism occurs in several genetic conditions including Angelman syndrome, Down syndrome, Rett syndrome, Cohen syndrome and Fragile X syndrome (Landrigan, 2010). These Mendelian disorders present high-risk deficits in social communication. The single gene disorders provide researchers with an important opportunity to study the molecular mechanism involved in aberrant neurodevelopment.

As comparable to other neuropsychiatric childhood disorders, ASD has a strong male bias. Male-female ratios are reported to be 1.33:1 to 1.57:1. Though autism severity is not associated with gender, there is some clear evidence of differences in gender in presentation specifically in the presence of comorbid features (Jeste & Geschwind, 2014). Males are observed to have more externalizing symptoms such as hyperactivity stereotypes and aggression while women have more internalizing symptoms like depression and anxiety. In addition, women with ASD tend to have a greater cognitive impairment in intellectually disabled people. These findings raise the question of whether the ASD phenotypes are driven by diagnostic biases or biological mechanism which results from a patient’s profile of the disease. ASD diagnosis is a categorical trait and not a quantitative variety (Lord et al…, 2013).

Symptoms of ASD vary from one person to the other depending on the severity of the disorder. For young children with mild ASD, it is common for the symptoms to be unrecognized.  Also, it is very hard to make a diagnosis in adults since the symptoms may overlap with symptoms of other mental disorders. Identifying the right diagnosis is important in helping the patient get the right help and treatment. Diagnosing mainly depends on the child behavior. Two main types of behavior exist which are repetitive behaviors and interaction behaviors (Chaste & Leboyer, 2012). People with ASD can also have other difficulties including sensitiveness to light, noise, clothing, and temperature. Incidences of sleep problems, irritability, and digestion problems have also been reported.

The first person to describe a group of individual specifically children with the common behavior characteristics which included stereotypical behavior, social detachment, and communication deficits was Leo Kanner (1943). These symptoms later came to be known as immature autism. Though the AD diagnostic criterion has been amended since then, Kanner’s description remain consistent with the current definition of ASD (Worley & Matson, 2012).Initially; there was uncertainty about the disorder and its accurate diagnosing. The perplexity stemmed from the term autism as labeled by Kanner. Eugene Bleuler (1913) was the first to use the term autism to describe the symptom exhibited by individuals diagnosed with schizophrenia. So when Kanner used the same term to describe his symptoms, it raised some confusion.

People with ASD vary widely in both language and abilities. These abilities range from simple language to absent speech. In addition, they also vary in cognitive development and insightful intellectual disability. Individuals may also showcase medical comorbidities such as epilepsy and physical anomalies (Chaste & Leboyer, 2012). There is a general agreement among researchers that the model of autism inheritance is in most cases, not Mendelian.  Several studies have resulted in the favor of polygenic model thus making it the initial strategy used to unravel the genetic factors which increase the risk of autism. Considering the individual approach which has been used in mental retardation, the search for a rare mutation was used giving a new hypothesis for the mechanism involved.

There is no specific treatment that can cure ASD. The only available option is therapies for both the child and the parents to help them understand the disorder. Treatment should normally begin as early as possible. There are behavioral therapies, educational therapies, and family therapies. Educational therapies include parents and professionals who work together in improving the communication, social and behavioral skills (Weiss, Fiske & Ferraioli, 2009). Behavioral therapies address the language, social and behavioral difficulties that are associated with ASD. They also teach how to communicate better with other children.

Family therapies help the family members understand how ASD affects their children. Parents and other family members also learn how to interact and play with their children.  There are different programs used in the intervention of this disorder. Different programs concentrate on different things. It is important for the parent and the professionals involved making sound decisions for the treatment to be initiated. It must be considered whether the treatment will cause more harmful to the child or it will be helpful. Autistics like other normal human beings want to live a comfortable life though it is hard to present the account of autism sufficiently.

According to the latest DSM-V to make a diagnosis of autism, an individual needs to have deficits in social interaction and communication that are very persistent across multiple contexts (Worley & Matson, 2012). However, scholars recognize that there are other features important to autism and not mentioned in DSM-V. A major feature is language abilities and development which was included in DSM-IV. Another significant feature is motor abnormalities.

 

References

Chaste, P., & Leboyer, M. (2012). Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci, 14(3), 281-92.

Jeste, S. S., & Geschwind, D. H. (2014). Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nature Reviews Neurology, 10(2), 74-81.

Lord, C., Cook, E. H., Leventhal, B. L., & Amaral, D. G. (2013). Autism spectrum disorders. Autism: The Science of Mental Health, 28, 217.

Landrigan, P. J. (2010). What causes autism? Exploring the environmental contribution. Current opinion in pediatrics, 22(2), 219-225.

National Institute of Mental Health. (2016, March). Autism Spectrum Disorder. Retrieved May 27, 2016, from http://www.nimh.nih.gov/health/topics/autism-spectrum-disorders-asd/index.shtml

National Institute of Neurological Disorders and Stroke. (2016, February 1). Autism Spectrum Disorder Fact Sheet. Retrieved May 27, 2016, from http://www.ninds.nih.gov/disorders/autism/detail_autism.htm

Szatmari, P. (2003). The causes of autism spectrum disorders. Bmj, 326(7382), 173-174.

Timothy, W. Y., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., & D’Gama, A. M. (2013). Using whole-exome sequencing to identify inherited causes of autism. Neuron, 77(2),

Weiss, M. J., Fiske, K., & Ferraioli, S. (2009). Treatment of autism spectrum disorders. In Treating childhood psychopathology and developmental disabilities (pp. 287-332). Springer New York.

Worley, J. A., & Matson, J. L. (2012). Comparing symptoms of autism spectrum disorders using the current DSM-IV-TR diagnostic criteria and the proposed DSM-V diagnostic criteria. Research in Autism Spectrum Disorders, 6(2), 965-970.

 

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