Metabolic and Genetic Causes of Autism

Sailaja Golla, Patricia Evans

Research output: Chapter in Book/Report/Conference proceedingChapter


Most children with an autism diagnosis rarely have an etiology that can be identified as the cause for their behavior. However, there are well-described syndromes that are clearly associated with the development of the autistic phenotype. For children in whom no clear etiology can be found, the term idiopathic or primary autism is applicable. By contrast, those individuals whose autism is clearly a result of genetic or environmental causes are said to have a secondary autism. In this chapter, we provide a table that notes references specific to genomic regions most often associated with the autistic spectrum disorder (ASD) phenotype, followed by a brief discussion of several of the more well-known genetic causes for ASD.

Original languageEnglish (US)
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationFifth Edition
PublisherElsevier Inc.
Number of pages9
ISBN (Electronic)9780124105294
ISBN (Print)9780124105492
StatePublished - Nov 13 2014


  • Angelman syndrome
  • Autistic spectrum disorder (ASD)
  • Chromosomal microarray (CMA)
  • Fragile X syndrome
  • In utero drug exposure
  • Neurocutaneous syndromes
  • Phenylketonuria
  • Rett syndrome
  • Second-hit theory
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Medicine(all)


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