Background-Anticonvulsants taken in pregnancy are associated with an increa
sed risk of malformations and developmental delay in the children. To evalu
ate the pattern of abnormalities associated with prenatal anticonvulsant ex
posure further, we undertook a clinical study of 57 children with fetal ant
iconvulsant syndromes.
Methods-Fifty two children were ascertained through the Fetal Anticonvulsan
t Syndrome Association and five were referred to the Aberdeen Medical Genet
ics Service. Pregnancy and medical history were obtained through a standard
ised questionnaire and interview and the children were examined.
Results-Thirty four (60%) were exposed in utero to valproate alone, four (7
%) to carbamazepine alone, four (7%) to phenytoin alone, and 15 (26%) to mo
re than one anticonvulsant. Forty six (81%) reported behavioural problems,
22 (39%) with hyperactivity or poor concentration of whom four (7%) had a d
iagnosis of attention deficit and hyperactivity disorder. Thirty four (60%)
reported two or more autistic features, of whom four had a diagnosis of au
tism and two of Asperger's syndrome. Forty four (77%) had learning difficul
ties, 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 eval
uation, 16 (34%) had myopia. Conclusions-Speech delay, joint laxity, glue e
ar, and myopia are common in the fetal anticonvulsant syndromes and autisti
c features and hyperactivity form part of the behavioural phenotype.