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Long-term cognitive outcomes in tuberous sclerosis complex

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Long-term cognitive outcomes in tuberous sclerosis complex. / Tye, Charlotte; McEwen, Fiona; Liang, Ho-Lan; Underwood, Lisa; Woodhouse, Emma; Barker, Edward; Sheerin, Fintan; Higgins, Nicholas; Steenbruggen, Juul; Yates, John R W; Bolton, Patrick F; Tuberous Sclerosis 2000 Study Group.

In: Developmental Medicine and Child Neurology, 19.09.2019.

Research output: Contribution to journalArticle

Harvard

Tye, C, McEwen, F, Liang, H-L, Underwood, L, Woodhouse, E, Barker, E, Sheerin, F, Higgins, N, Steenbruggen, J, Yates, JRW, Bolton, PF & Tuberous Sclerosis 2000 Study Group 2019, 'Long-term cognitive outcomes in tuberous sclerosis complex', Developmental Medicine and Child Neurology. https://doi.org/10.1111/dmcn.14356

APA

Tye, C., McEwen, F., Liang, H-L., Underwood, L., Woodhouse, E., Barker, E., ... Tuberous Sclerosis 2000 Study Group (2019). Long-term cognitive outcomes in tuberous sclerosis complex. Developmental Medicine and Child Neurology. https://doi.org/10.1111/dmcn.14356

Vancouver

Tye C, McEwen F, Liang H-L, Underwood L, Woodhouse E, Barker E et al. Long-term cognitive outcomes in tuberous sclerosis complex. Developmental Medicine and Child Neurology. 2019 Sep 19. https://doi.org/10.1111/dmcn.14356

Author

Tye, Charlotte ; McEwen, Fiona ; Liang, Ho-Lan ; Underwood, Lisa ; Woodhouse, Emma ; Barker, Edward ; Sheerin, Fintan ; Higgins, Nicholas ; Steenbruggen, Juul ; Yates, John R W ; Bolton, Patrick F ; Tuberous Sclerosis 2000 Study Group. / Long-term cognitive outcomes in tuberous sclerosis complex. In: Developmental Medicine and Child Neurology. 2019.

Bibtex Download

@article{bf26580376f047288b975d1c024fa218,
title = "Long-term cognitive outcomes in tuberous sclerosis complex",
abstract = "Aim: To investigate the interdependence between risk factors associated with long-term intellectual development in individuals with tuberous sclerosis complex (TSC). Method: The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of individuals with TSC. In phase 1 of the study, baseline measures of intellectual ability, epilepsy, cortical tuber load, and mutation were obtained for 125 children (63 females, 62 males; median age=39mo). In phase 2, at an average of 8 years later, intellectual abilities were estimated for 88 participants with TSC and 35 unaffected siblings. Structural equation modelling was used to determine the risk pathways from genetic mutation through to IQ at phase 2. Results: Intellectual disability was present in 57{\%} of individuals with TSC. Individuals without intellectual disability had significantly lower mean IQ compared to unaffected siblings, supporting specific genetic factors associated with intellectual impairment. Individuals with TSC who had a slower gain in IQ from infancy to middle childhood were younger at seizure onset and had increased infant seizure severity. Structural equation modelling indicated indirect pathways from genetic mutation, to tuber count, to seizure severity in infancy, through to IQ in middle childhood and adolescence. Interpretation: Early-onset and severe epilepsy in the first 2 years of life are associated with increased risk of long-term intellectual disability in individuals with TSC, emphasizing the importance of early and effective treatment or prevention of epilepsy. What this paper adds: Intellectual disability was present in 57{\%} of individuals with tuberous sclerosis complex (TSC). Those with TSC without intellectual disability had significantly lower mean IQ compared to unaffected siblings. Earlier onset and greater severity of seizures in the first 2 years were observed in individuals with a slower gain in intellectual ability. Risk pathways through seizures in the first 2 years predict long-term cognitive outcomes in individuals with TSC.",
author = "Charlotte Tye and Fiona McEwen and Ho-Lan Liang and Lisa Underwood and Emma Woodhouse and Edward Barker and Fintan Sheerin and Nicholas Higgins and Juul Steenbruggen and Yates, {John R W} and Bolton, {Patrick F} and {Tuberous Sclerosis 2000 Study Group}",
year = "2019",
month = "9",
day = "19",
doi = "10.1111/dmcn.14356",
language = "English",
journal = "Developmental Medicine and Child Neurology",
issn = "0012-1622",
publisher = "Wiley-Blackwell",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Long-term cognitive outcomes in tuberous sclerosis complex

AU - Tye, Charlotte

AU - McEwen, Fiona

AU - Liang, Ho-Lan

AU - Underwood, Lisa

AU - Woodhouse, Emma

AU - Barker, Edward

AU - Sheerin, Fintan

AU - Higgins, Nicholas

AU - Steenbruggen, Juul

AU - Yates, John R W

AU - Bolton, Patrick F

AU - Tuberous Sclerosis 2000 Study Group

PY - 2019/9/19

Y1 - 2019/9/19

N2 - Aim: To investigate the interdependence between risk factors associated with long-term intellectual development in individuals with tuberous sclerosis complex (TSC). Method: The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of individuals with TSC. In phase 1 of the study, baseline measures of intellectual ability, epilepsy, cortical tuber load, and mutation were obtained for 125 children (63 females, 62 males; median age=39mo). In phase 2, at an average of 8 years later, intellectual abilities were estimated for 88 participants with TSC and 35 unaffected siblings. Structural equation modelling was used to determine the risk pathways from genetic mutation through to IQ at phase 2. Results: Intellectual disability was present in 57% of individuals with TSC. Individuals without intellectual disability had significantly lower mean IQ compared to unaffected siblings, supporting specific genetic factors associated with intellectual impairment. Individuals with TSC who had a slower gain in IQ from infancy to middle childhood were younger at seizure onset and had increased infant seizure severity. Structural equation modelling indicated indirect pathways from genetic mutation, to tuber count, to seizure severity in infancy, through to IQ in middle childhood and adolescence. Interpretation: Early-onset and severe epilepsy in the first 2 years of life are associated with increased risk of long-term intellectual disability in individuals with TSC, emphasizing the importance of early and effective treatment or prevention of epilepsy. What this paper adds: Intellectual disability was present in 57% of individuals with tuberous sclerosis complex (TSC). Those with TSC without intellectual disability had significantly lower mean IQ compared to unaffected siblings. Earlier onset and greater severity of seizures in the first 2 years were observed in individuals with a slower gain in intellectual ability. Risk pathways through seizures in the first 2 years predict long-term cognitive outcomes in individuals with TSC.

AB - Aim: To investigate the interdependence between risk factors associated with long-term intellectual development in individuals with tuberous sclerosis complex (TSC). Method: The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of individuals with TSC. In phase 1 of the study, baseline measures of intellectual ability, epilepsy, cortical tuber load, and mutation were obtained for 125 children (63 females, 62 males; median age=39mo). In phase 2, at an average of 8 years later, intellectual abilities were estimated for 88 participants with TSC and 35 unaffected siblings. Structural equation modelling was used to determine the risk pathways from genetic mutation through to IQ at phase 2. Results: Intellectual disability was present in 57% of individuals with TSC. Individuals without intellectual disability had significantly lower mean IQ compared to unaffected siblings, supporting specific genetic factors associated with intellectual impairment. Individuals with TSC who had a slower gain in IQ from infancy to middle childhood were younger at seizure onset and had increased infant seizure severity. Structural equation modelling indicated indirect pathways from genetic mutation, to tuber count, to seizure severity in infancy, through to IQ in middle childhood and adolescence. Interpretation: Early-onset and severe epilepsy in the first 2 years of life are associated with increased risk of long-term intellectual disability in individuals with TSC, emphasizing the importance of early and effective treatment or prevention of epilepsy. What this paper adds: Intellectual disability was present in 57% of individuals with tuberous sclerosis complex (TSC). Those with TSC without intellectual disability had significantly lower mean IQ compared to unaffected siblings. Earlier onset and greater severity of seizures in the first 2 years were observed in individuals with a slower gain in intellectual ability. Risk pathways through seizures in the first 2 years predict long-term cognitive outcomes in individuals with TSC.

UR - http://www.scopus.com/inward/record.url?scp=85073997273&partnerID=8YFLogxK

U2 - 10.1111/dmcn.14356

DO - 10.1111/dmcn.14356

M3 - Article

JO - Developmental Medicine and Child Neurology

JF - Developmental Medicine and Child Neurology

SN - 0012-1622

ER -

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