Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

@article{Schaefer2013ClinicalGE,
  title={Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions},
  author={Gerald Bradley Schaefer and Nancy J. Mendelsohn},
  journal={Genetics in Medicine},
  year={2013},
  volume={15},
  pages={399-407},
  url={https://api.semanticscholar.org/CorpusID:2374142}
}
The guidelines in this paper have been developed to assist the clinician in the consideration of factors and are updates the original publication from 2008.
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77 References

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

The guidelines in this article have been developed to assist the clinician in the consideration of a host of different factors, including an accurate diagnosis of autism before proceeding with any investigation and an individualized evaluation scheme based on the unique history and clinical features of a given patient.

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A strategy of a tiered evaluation of the etiology of autism is discussed and recommendations use evidence-based conclusions from the current available literature and cumulative clinical experience.

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PTEN gene sequencing should be considered in any child with macrocephaly and autism or developmental delay, and metabolic screening may not be warranted in autism spectrum disorders without more specific indications or additional findings.

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