The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex

• Published in: Archives of disease in childhood Vol. 89; no. 6; pp. 530 - 533
• Main Authors: O’Callaghan, F J K, Harris, T, Joinson, C, Bolton, P, Noakes, M, Presdee, D, Renowden, S, Shiell, A, Martyn, C N, Osborne, J P
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 01.06.2004; BMJ; BMJ Publishing Group Ltd; BMJ Publishing Group LTD
• Subjects: Adolescent; Adult; Aged; Biological and medical sciences; Brain research; Causes of; Cerebral Cortex; Child; Convulsions & seizures; England - epidemiology; Epidemiology; Epilepsy; Female; General aspects; Humans; Hypotheses; Infant; Infantile spasms; Intellectual disabilities; Intelligence; Learning disabilities; Learning disorders; Learning Disorders - etiology; Magnetic Resonance Imaging; Male; Medical sciences; Middle Aged; Neurology; NMR; Nuclear magnetic resonance; Original; Pathology; Seizures; Spasms, Infantile; Spasms, Infantile - etiology; Studies; Tuberous sclerosis; Tuberous Sclerosis - complications; Tuberous Sclerosis - pathology; Tumors of the nervous system. Phacomatoses; Wechsler Scales - standards; England; United Kingdom; Human; Pediatrics; Nervous system diseases; Intelligence; Epilepsy; Infant; Complexes; Genetic disease; West syndrome; Relation; Central nervous system disease; Spasm; Tumor; Intellectual level; Bourneville syndrome; Child
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/adc.2003.026815

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.