A clinical study of 57 children with fetal anticonvulsant syndromes

• Published in: Journal of medical genetics Vol. 37; no. 7; pp. 489 - 497
• Main Authors: Moore, S J, Turnpenny, P, Quinn, A, Glover, S, Lloyd, D J, Montgomery, T, Dean, J C S
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.07.2000; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Abnormalities, Drug-Induced; Adolescent; Anticonvulsants - adverse effects; Anticonvulsants - therapeutic use; Autism; Biological and medical sciences; birth defects; Carbamazepine - adverse effects; Carbamazepine - therapeutic use; Child; Child, Preschool; Children & youth; Drug toxicity and drugs side effects treatment; Epilepsy; Epilepsy - drug therapy; Families & family life; Female; fetal anticonvulsant syndrome; Fetal Diseases - chemically induced; fetal valproate syndrome; Humans; Infant; Learning disabilities; Male; Medical sciences; Mothers; Mutation; Original; Parents & parenting; Pharmacology. Drug treatments; Phenotype; Phenytoin - adverse effects; Phenytoin - therapeutic use; Pregnancy; Questionnaires; Studies; Syndrome; teratogen; Toxicity: nervous system and muscle; Valproic Acid - adverse effects; Valproic Acid - therapeutic use; Human; Nervous system diseases; Pathophysiology; Toxicity; Epilepsy; Anticonvulsant; Exposure; Maternal diseases; Cerebral disorder; Pregnancy; Prenatal; Concomitant disease; Chemotherapy; Fetal diseases; Phenotype; Genetic counseling; Treatment; Central nervous system disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.37.7.489

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. METHODS 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. 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 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. CONCLUSIONS 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.