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Autism with ophthalmologic malformations: the plot thickens.

Journal article
Authors Marilyn T Miller
Kerstin Strömland
Liana Ventura
Maria E I Johansson
Jose M Bandim
Christopher Gillberg
Published in Transactions of the American Ophthalmological Society
Volume 102
Pages 107-20; discussion 120-1
ISSN 0065-9533
Publication year 2004
Published at Institute of Clinical Neurosciences, Section of Ophtalmology
Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Pages 107-20; discussion 120-1
Language en
Keywords Abnormalities, Drug-Induced, Abnormalities, Multiple, Adolescent, Autistic Disorder, complications, psychology, Child, Child, Preschool, Eye Abnormalities, complications, Female, Goldenhar Syndrome, complications, Humans, Male, Misoprostol, adverse effects, Mobius Syndrome, chemically induced, complications, Severity of Illness Index, Teratogens, Thalidomide, adverse effects
Subject categories Child and adolescent psychiatry


PURPOSE: To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. METHODS: In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother's pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt. RESULTS: In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). CONCLUSION: Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.

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