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a Department of
Medical Genetics, Medical School, Foresterhill, Aberdeen AB25 2ZD,
UK, b Department of Medical Genetics, Royal Devon and
Exeter Hospital, Barrack Road, Exeter, Devon, UK, c Department of Ophthalmology, Royal Devon and
Exeter Hospital, Barrack Road, Exeter, Devon, UK, d Department
of Neonatal Medicine, Aberdeen Maternity Hospital, Foresterhill,
Aberdeen, UK, e Department of
Human Genetics, University of Newcastle upon Tyne, 19 Claremont Street,
Newcastle Upon Tyne, UK
Correspondence to: Dr Dean, j.dean{at}abdn.ac.uk
Revised version received 6 January 2000;
Accepted for publication 11 January
2000
BACKGROUND
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.
METHODSFifty 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.
RESULTSThirty 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.
CONCLUSIONSSpeech 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.
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