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 DOI: 10.1177/0009922814533413

2014 53: 917 originally published online 6 May 2014CLIN PEDIATRMichael W. Simon

Autism Spectrum Disorder: Genetic Versus Environmental  

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- May 6, 2014OnlineFirst Version of Record  

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Clinical Pediatrics2014, Vol. 53(9) 917 © The Author(s) 2014Reprints and permissions: sagepub.com/journalsPermissions.navDOI: 10.1177/0009922814533413cpj.sagepub.com

Letter to the Editor

I was amazed to see a report that the occurrence of autism spectrum disorders (ASD) is estimated to be 1 in 38. Did we really have at least 6 or more characteristics with at least 2 from A, 1 each from B and C, and 1 from category II to satisfy the DSM-IV requirements? This occurrence will drop with the DSM-5 with revised criteria having a more restrictive range of criteria for diagnosis of ASD.

The prevalence of ASD was reported 1 in 88 chil-dren.1 ASD is a genetic disorder with boys having a greater prevalence at 3:1 to 6:1. A common observation is that it may run in families with cousins and siblings more likely afflicted. If one child in the family has ASD, then there is a 2% to 8% risk another sibling will have ASD.2 Over 100 genes have been reported in ASD, with an estimate of between 380 and 820 loci implicated.3 ASD may result from genetic variations in multiple genes.4 Multiple genes with nongenetic factors or sev-eral different genes producing a specific phenotype may be genetic etiologies for ASD. It is possible that differ-ent combinations of autism genes may account for the varying degrees of severity for ASD.

It is even more confusing now with information that maternal factors like winter conception, maternal fever, diabetes, and obesity during pregnancy increases the risk of autism. It is unknown if any of these children had genetic testing performed. They may represent another subset of children with autism-like features. I would suggest they be termed Maternally Derived Neurodevelopmental Disorder

(MDND). Genetic testing of the children is critical for the diagnosis of true autism, rather than maternal factors dam-aging the fetal brain during a critical time of its develop-ment. By making a clear distinction between these etiologies we will be better able to educate our families regarding autism risks and outcomes.

References

1. Prevalence of autism spectrum disorders–Autism and Development Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ. 2012;61(3):1-19.

2. Bolton P, MacDonald H, Pickles A, et al. A case-control family history study of autism. J Child Psychol Psychiatry. 1994;35:877-900.

3. Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011;1380:42-77.

4. El-Fishawy P, State MW. The genetics of autism: key issues recent findings and clinical implications. Psychiatr Clin North Am. 2010;33:83-105.

533413 CPJXXX10.1177/0009922814533413Clinical PediatricsSimonresearch-article2014

1University of Kentucky, Lexington, KY, USA

Corresponding Author:Michael W. Simon, Department of Pediatrics, University of Kentucky, Lexington, KY, USA. Email: simonmd@mwsimonmd.com

Autism Spectrum Disorder: Genetic Versus Environmental

Michael W. Simon, MD, PhD1

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