SUMMARY Of a population of 100 Swedish thalidomide embryopathy cases, at least four met full criteria for DSM‐III‐R autistic disorder and ICD‐10 childhood autism. Thalidomide embryopathy of the kind encountered in these cases affects fetal development early in pregnancy, probably on days 20 to 24 after conception. It is argued that the possible association of thalidomide embryopathy with autism may shed some light on the issue of which neural circuitries may be involved in autism pathogenesis. RÉSUMÉ Autisme dans l'embryopathie thalidomide: une étude de population Dans une population de 100 cas suédois d'embryopathie thalidomide, au moins quatre cas présentaient tous les critères du trouble autistique du DSM‐III‐R et de l'autisme infantile du ICD‐10. L'embryopathie thalidomide du type recontré dans ces cas affecte le développement en début de grossesse, probablement entre le jour 20 et le jour 24 après la conception. Les auteurs pensent que l'association possible de l'embryopathie thalidomide avec I'autisme peut jetter quelques lumières sur la nature des circuits neuronaux impliqués dans la pathogenése de l'autisme. ZUSAMMENFASSUNG Autismus bei Thalidomid Embryopathie: eine Populationssiudie Von 100 schwedischen Thalidomid Embryopathiefällen erfüllten mindestens vier alle Krtiterien für die DSM‐HI‐R Form des Autismus und für den ICD‐10 Autismus des Kindesalters. Die Thalidomid Embryopathie, die bei diesen Kindern vorlag, stört die fetale Entwicklung in der frühen Schwangerschaft, wahrscheinlich an den Tagen 20 bis 24 nach der Konzeption. Die Autoren denken, daβ die mögliche Beziehung zwischen Thalidomid Embryopathie und Autismus zur Klärung der Frage beitragen könnte, welche fetalen Verbindungen bei der Pathogenese des Autismus involviert sind. RESUMEN A utismo en la embriopatia por talidomina. t'studio de una población De una población de 100 casos en Suecia de embriopatia talidomínica, por lo menos cuatro cumplian los criterios establecidos por el DSM‐III‐R para una alteratión autistica y por el ICD‐10 para el autismo infantil. La embriopatia talidominica del tipo encontrado en estos casos afecta el desarrollo prenatal precozmente en la gestation, probablemente en los dias 20 al 24 después de la conceptión. Se argumenta que la posible asociación de la embriopatia talidominica con el autismo pueda ser de alguna ayuda sobre el tema de cuales son los circuitos neuronales afectados en la patogenesis del autismo.

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Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.

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-The psychiatric examination was performed with diagnostic instruments for autism (DSM-IV and Childhood Autism Rating Scale-CARS) in 23 children with Möbius sequence. From the 23 patients studied with Möbius sequence, five (26.1%) met the diagnostic criteria for infantile autism according DSM-IV and two (8.6%), under two years old, showed autistic-like behavior. The scores for six children were compatible to severe autism symptoms according CARS and one child met the criteria for moderate autism symptoms. Among five children with autism, three (60%) had positive history of misoprostol exposure during the first trimester of pregnancy and from two cases autistic-like, one (50%) had positive history of misoprostol exposure during pregnancy.According to our data, this is the first report of Möbius sequence with autism and positive history of misoprostol use during pregnancy.