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Abstract
Anticonvulsants taken in pregnancy are associated with an increased risk of malformations
and developmental delay in the children. To evaluate the pattern of abnormalities
associated with prenatal anticonvulsant exposure further, we undertook a clinical
study of 57 children with fetal anticonvulsant syndromes.
Fifty two children were ascertained through the Fetal Anticonvulsant Syndrome Association
and five were referred to the Aberdeen Medical Genetics Service. Pregnancy and medical
history were obtained through a standardised questionnaire and interview and the children
were examined.
Thirty four (60%) were exposed in utero to valproate alone, four (7%) to carbamazepine
alone, four (7%) to phenytoin alone, and 15 (26%) to more than one anticonvulsant.
Forty six (81%) reported behavioural problems, 22 (39%) with hyperactivity or poor
concentration of whom four (7%) had a diagnosis of attention deficit and hyperactivity
disorder. Thirty four (60%) reported two or more autistic features, of whom four had
a diagnosis of autism and two of Asperger's syndrome. Forty four (77%) had learning
difficulties, 46 (81%) had speech delay, 34 (60%) had gross motor delay, and 24 (42%)
had fine motor delay. Nineteen (33%) had glue ear and 40 (70%) had joint laxity involving
all sizes of joints. Of 46 who had formal ophthalmic evaluation, 16 (34%) had myopia.
Speech delay, joint laxity, glue ear, and myopia are common in the fetal anticonvulsant
syndromes and autistic features and hyperactivity form part of the behavioural phenotype.