Psychological Medicine



Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex


C. JOINSON a1, F. J. O'CALLAGHAN a1, J. P. OSBORNE a1, C. MARTYN a1, T. HARRIS a1 and P. F. BOLTON a1c1
a1 Developmental Psychiatry Section, University of Cambridge; Bath Unit for Research in Paediatrics, Children's Centre, Royal United Hospital; and MRC Environmental Epidemiology Unit, University of Southampton

Abstract

Background. Intellectual impairments are a recognized feature of tuberous sclerosis complex (TSC), but the frequency and degree of intellectual impairments has not been systematically studied in large epidemiological samples using standardized measures. As such, the form of the IQ distribution (uni- or bi-modal) has not been established and the relationship between IQ and other features (e.g. epilepsy history) is poorly delineated. To address these shortcomings, we assessed the intellectual abilities of a large epidemiological sample of individuals with TSC, drawn from the ‘Wessex’ area of SW England and compared them with the abilities of their unaffected siblings.

Method. Standardized tests were used to estimate the abilities of 108 (56 males, 52 females, median age=25, range=4–75) individuals with TSC and 29 unaffected siblings (14 males, 15 females, median age=18, range=6–55). Seizure history was obtained from informants and medical records.

Results. Estimated IQ was bi-modally distributed: 55·5% had an IQ in the normal range; 14% had mild to severe impairments; and 30·5% had profound disability (IQ<21). Forty-four per cent of the individuals with TSC had an IQ<70. In the subset of normally intelligent individuals with TSC, IQ was normally distributed with a mean of 93·6. This mean was significantly lower than the mean IQ of unaffected siblings (IQ=105·6). All individuals with learning disability had a history of seizures that usually commenced before 12 months of age and that often presented as infantile spasms. Multivariate analyses indicated that a history of seizures as well as a history of infantile spasms was predictive of the degree of intellectual impairment.

Conclusions. Intellectual abilities were bi-modally distributed in a representative sample of individuals with TSC. The likelihood of impairment was associated with a history of seizures, particularly infantile spasms. The genetic and brain basis of these findings requires further investigation.


Correspondence:
c1 Address for correspondence to: Professor Patrick F. Bolton, Department of Child Psychiatry and MRC Centre for Social, Developmental and Genetic Psychiatry, Institute of Psychiatry, De Crespigny Park, London SE5 8AF.


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