Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

Tye, Charlotte, Thomas, Laura E., Sampson, Julian R., Lewis, Juli, O'Callaghan, Finbar, Yates, John R.W. and Bolton, Patrick F. 2018. Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? Epilepsia Open 3 (2) , pp. 276-280. 10.1002/epi4.12111

[img]
Preview
PDF - Accepted Post-Print Version
Available under License Creative Commons Attribution Non-commercial No Derivatives.

Download (647kB) | Preview

Abstract

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by mutations in TSC1 or TSC2. Epilepsy occurs in 80 to 90% of affected individuals during their lifetime, and up to one third of children with TSC will develop epileptic (infantile) spasms, for which vigabatrin has been shown to be particularly effective. Epilepsy severity and epileptic spasms are consistent markers of risk for the development of intellectual impairment in TSC. While previous studies demonstrate a bimodal distribution of intellectual ability in TSC, recent findings suggest a unimodal distribution, which may reflect a change in IQ distribution over time. We compared three large historical UK cohorts of TSC (n=331) that show varied distributions of intellectual ability, first ruling out differences in study methodology. Later‐born individuals had a higher frequency of reported spasms and higher likelihood of vigabatrin administration, but were less likely to have profound intellectual impairment, compared to the earlier‐born individuals. Our findings suggest that epileptic spasms went undetected in the older patients and therefore were not treated, leading to a higher occurrence of profound impairment, whereas the later born cohort had better access to treatment. These findings support the importance of early identification and treatment of seizures in TSC.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Advanced Research Computing @ Cardiff (ARCCA)
ISSN: 2470-9239
Date of First Compliant Deposit: 28 March 2018
Date of Acceptance: 14 February 2018
Last Modified: 18 Oct 2019 18:26
URI: http://orca.cf.ac.uk/id/eprint/110305

Citation Data

Cited 1 time in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item

Downloads

Downloads per month over past year

View more statistics