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A clinical study of 57 children with fetal anticonvulsant syndromes
S J Moore1, P Turnpenny, A Quinn
1Department of Medical Genetics, Medical School, Foresterhill, Aberdeen UK.
Insights
Prenatal anticonvulsant exposure, particularly valproate, is linked to developmental delays and behavioral issues in children. Common problems include speech delay, joint laxity, and autistic features, highlighting risks for fetal anticonvulsant syndromes.
Area of Science:
- Medical Genetics
- Developmental Pediatrics
- Teratology
Background:
- Anticonvulsant medications during pregnancy increase risks for congenital malformations and developmental delays.
- Fetal anticonvulsant syndromes represent a spectrum of abnormalities following in utero exposure.
Purpose of the Study:
- To further evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure.
- To characterize the clinical features of fetal anticonvulsant syndromes.
Main Methods:
- Clinical study of 57 children with suspected fetal anticonvulsant syndromes.
- Data collection via standardized questionnaires, interviews, and clinical examinations.
- Ascertainment through the Fetal Anticonvulsant Syndrome Association and a medical genetics service.
Main Results:
- Valproate was the most common exposure (60%), followed by carbamazepine, phenytoin, or multiple anticonvulsants.
- High prevalence of behavioral problems (81%), including hyperactivity (39%) and autistic features (60%).
- Significant rates of learning difficulties (77%), speech delay (81%), motor delays (60% gross, 42% fine), glue ear (33%), joint laxity (70%), and myopia (34%).
Conclusions:
- Speech delay, joint laxity, glue ear, and myopia are frequent findings in fetal anticonvulsant syndromes.
- Autistic features and hyperactivity are key components of the behavioral phenotype.
- Confirms the significant developmental and physical risks associated with prenatal anticonvulsant exposure.
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.