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Related Experiment Videos

Autism with ophthalmologic malformations: the plot thickens.

Marilyn T Miller1, Kerstin Strömland, Liana Ventura

  • 1Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, Illinois, USA.

Transactions of the American Ophthalmological Society
|March 8, 2005
PubMed
Summary

Autism spectrum disorder (ASD) is linked to congenital conditions like CHARGE association, Goldenhar syndrome, and Möbius sequence. These conditions can arise from early pregnancy exposure to teratogens such as thalidomide and misoprostol.

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Area of Science:

  • Neurodevelopmental Disorders
  • Teratology
  • Genetics and Syndromology

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition.
  • Certain congenital malformation syndromes have been anecdotally associated with ASD.
  • Understanding these associations may shed light on shared etiologies.

Purpose of the Study:

  • To investigate the association between autism spectrum disorder (ASD) and thalidomide embryopathy and Möbius sequence.
  • To compare these findings with new studies on ASD in CHARGE association, Goldenhar syndrome, and Brazilian Möbius sequence.

Main Methods:

  • Review of existing literature on thalidomide embryopathy and Möbius sequence with ASD.
  • Analysis of three new studies: Swedish CHARGE association (31 patients), Swedish Goldenhar syndrome (20 patients), and Brazilian Möbius sequence (28 patients).

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  • Inclusion criteria for CHARGE syndrome involved 3+ or 4 common characteristics.

    • Main Results:

    • In the CHARGE study, 5 patients had autism disorder and 5 had autistic-like conditions.
    • In the Goldenhar study, 2 patients had autism disorder and 1 had an autistic-like condition.
    • In the Brazilian Möbius study, ASD was present in both misoprostol-exposed and unexposed groups (5 with autism disorder, 3 with autistic-like condition).

    Conclusions:

    • Autism spectrum disorder is reported in conditions linked to early pregnancy exposure to teratogens like thalidomide and misoprostol.
    • ASD occurred in both misoprostol-exposed and unexposed groups in the Brazilian Möbius study.
    • Autism was also observed in patients with CHARGE association and Goldenhar syndrome.