Is Autism a Primarily Genetic Disease?

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I. Introduction:

Neurological disorders are complex in nature and often the least understood. Given the recent boom in imaging technology and other diagnostic methods, it is now possible to see more clearly into the scope of neurological development and accurately determine the etiology of these diseases. One of such disorders is Autism; a multifactorial condition impairing normal brain development. It affects many aspects of development, including social behavior, cognitive ability and communication skills1 and is commonly diagnosed in children before the age of three1. The symptoms of this condition can vary greatly between individuals; hence its classification as a spectrum disorder. Asperger syndrome, Rett syndrome and pervasive developmental disorder are all within this spectrum, characterized by varying extents of social and communicative difficulties2.
Autism is a disorder that is increasing in prevalence1, and due to its multifaceted nature, there are still numerous discoveries yet to be made in this field. If the respective roles of the environment and genetics are better understood, then effective treatments can be created that get to the root of the disorder, an example possibly being an increase in gene therapy research as a new means of treatment. This paper serves to examine the basis of Autism, in terms of the contributing factors and to uncover whether or not it is a primarily genetic disorder.

II. Evidence for the “yes” side:

Family Studies suggest that Autism is hereditary3. One study involved collecting data on 943, 664 children under the age of 10 for the duration of 7 years, and it was found that 818 of them developed autism3. Children who have siblings affected with autism have a risk that is 22 times hig...

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... A New Direction for Research. Environmental Health Perspectives 108, 401-404 (2000)

3. Lauritsen, M.B., Pedersen, C.B., Mortensen, P.B. Effects of familial risk factors and place of birth on the risk of autism: A nationwide register-based study Journal of Child Psychology and Psychiatry and Allied Disciplines 46, 963-971 (2005)

4. King, I.F. et al. Topoisomerases Facilitate Transcription of Long Genes Linked to Autism. Nature 501, 58-62 (2013)

5. Bailey, A. et al. Autism as a Strongly Genetic Disorder: Evidence from a British Twin Study. Psychological Medicine 25, 63-77 (1995)

6. Reichenberg, A. et al. Advancing Paternal Age and Autism. Archives of General Psychiatry 63, 1026-1032 (2006)

7. Larsson, H.J. et al. Risk Factors for Autism: Perinatal Factors, Parental Psychiatric History, and Socioeconomic Status American Journal of Epidemiology 161, 916-925 (2005)

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