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Community child health, public health, and epidemiology
The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
  1. F J K O’Callaghan1,
  2. T Harris2,
  3. C Joinson2,
  4. P Bolton2,
  5. M Noakes3,
  6. D Presdee3,
  7. S Renowden4,
  8. A Shiell5,
  9. C N Martyn5,
  10. J P Osborne3
  1. 1Department of Paediatric Neurology, Bristol Royal Hospital for Children, Institute of Child Health, Upper Maudlin Street, Bristol BS2 8BJ, UK
  2. 2Developmental Psychiatry Section, University of Cambridge, Douglas House, 18b Trumpington Road, Cambridge CB2 2AH, UK
  3. 3Royal United Hospital, Combe Park, Bath BA1 3NG, UK
  4. 4Department of Neuroradiology, Frenchay Hospital, Bristol, UK
  5. 5MRC Environmental Epidemiology Unit, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK
  1. Correspondence to:
    Dr F J K O’Callaghan
    Department of Paediatric Neurology, Bristol Royal Hospital for Children, Institute of Child Health, Upper Maudlin Street, Bristol BS2 8BJ, UK; finbar.ocallaghanubht.nhs.swest.uk

Abstract

Background: The aetiology of the learning difficulty in tuberous sclerosis is debated. It may be related to the amount of tubers in the brain or caused by the infantile spasms that occur in early life.

Aims: To examine the relative contributions to final intelligence (IQ) made by both cerebral tubers and infantile spasms.

Methods: As part of an epidemiological study of tuberous sclerosis in the south of England, patients were recruited who were able to undergo magnetic resonance imaging (MRI) without the need for an anaesthetic. Epilepsy history was determined by interview and review of clinical records. IQ was assessed using either Wechsler intelligence scales or Raven’s matrices.

Results: A total of 41 patients consented to have an MRI scan. IQ scores were normally distributed about a mean of 91. Twenty six patients had a positive history of epilepsy, and 11 had suffered from infantile spasms. There was a significant relation between the number of tubers and IQ. Infantile spasm status partly confounded the relation between tubers and IQ, but did not render the relation statistically insignificant. The relation between infantile spasms and learning difficulty remained strong even when controlling for the number of tubers.

  • epilepsy
  • infantile spasms
  • tuberous sclerosis

https://doi.org/10.1136/adc.2003.026815

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