Long-term cognitive outcomes in tuberous sclerosis complex.
Journal
Developmental medicine and child neurology
ISSN: 1469-8749
Titre abrégé: Dev Med Child Neurol
Pays: England
ID NLM: 0006761
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
accepted:
02
08
2019
pubmed:
21
9
2019
medline:
6
5
2020
entrez:
21
9
2019
Statut:
ppublish
Résumé
To investigate the interdependence between risk factors associated with long-term intellectual development in individuals with tuberous sclerosis complex (TSC). 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. 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. 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. 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.
Identifiants
pubmed: 31538337
doi: 10.1111/dmcn.14356
pmc: PMC7027810
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
322-329Subventions
Organisme : Medical Research Council
ID : G9817803
Pays : United Kingdom
Investigateurs
N Higgins
(N)
V Attard
(V)
A Clarke
(A)
F V Elmslie
(FV)
A K Saggar
(AK)
D Baines
(D)
B A Kerr
(BA)
C Brayne
(C)
I Carcani-Rathwell
(I)
C Connolly
(C)
M Clifford
(M)
A Lydon
(A)
F Oluwo
(F)
H Rogers
(H)
C Srivastava
(C)
J Steenbruggen
(J)
J A Cook
(JA)
C Falconer
(C)
D M Davies
(DM)
J R Sampson
(JR)
A E Fryer
(AE)
M Haslop
(M)
Y Granader
(Y)
P D Griffiths
(PD)
A Hunt
(A)
Wwk Lam
(W)
J C Kingswood
(JC)
Z H Miedzybrodzka
(ZH)
H Crawford
(H)
P J Morrison
(PJ)
Fjk O'Callaghan
(F)
S G Philip
(SG)
S Seri
(S)
R Sheehan-Dare
(R)
C H Shepherd
(CH)
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2019 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.
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