Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.
Adolescent
Adult
Child
Child, Preschool
Epilepsy
/ diagnosis
Female
Humans
Logistic Models
Male
Middle Aged
Odds Ratio
Predictive Value of Tests
ROC Curve
Retrospective Studies
Risk Assessment
Risk Factors
Tuberous Sclerosis
/ complications
Tuberous Sclerosis Complex 1 Protein
/ genetics
Tuberous Sclerosis Complex 2 Protein
/ genetics
Young Adult
Epilepsy
Genotype
Risk factors
Risk prediction model
Seizures
Tuberous sclerosis complex (TSC)
Journal
Pediatric neurology
ISSN: 1873-5150
Titre abrégé: Pediatr Neurol
Pays: United States
ID NLM: 8508183
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
15
04
2020
revised:
29
06
2020
accepted:
25
07
2020
pubmed:
5
10
2020
medline:
9
10
2021
entrez:
4
10
2020
Statut:
ppublish
Résumé
Individuals with tuberous sclerosis complex are at increased risk of epilepsy. Early seizure control improves developmental outcomes, making identifying at-risk patients critically important. Despite several identified risk factors, it remains difficult to predict. The purpose of the study was to evaluate the combined risk prediction of previously identified risk factors for epilepsy in individuals with tuberous sclerosis complex. The study group (n = 333) consisted of individuals with tuberous sclerosis complex who were enrolled in the Tuberous Sclerosis Complex Autism Center of Excellence Research Network and UT TSC Biobank. The outcome was defined as having an epilepsy diagnosis. Potential risk factors included sex, TSC genotype, and tuber presence. Logistic regression was used to calculate the odds ratio and P value for the association between each variable and epilepsy. A clinical risk prediction model incorporating all risk factors was built. Area under the curve was calculated to characterize the full model's ability to discriminate individuals with tuberous sclerosis complex with and without epilepsy. The strongest risk for epilepsy was presence of tubers (95% confidence interval: 2.39 to 10.89). Individuals with pathogenic TSC2 variants were three times more likely (95% confidence interval: 1.55 to 6.36) to develop seizures compared with those with tuberous sclerosis complex from other causes. The combination of risk factors resulted in an area under the curve 0.73. Simple characteristics of patients with tuberous sclerosis complex can be combined to successfully predict epilepsy risk. A risk assessment model that incorporates sex, TSC genotype, protective TSC2 missense variant, and tuber presence correctly predicts epilepsy in 73% of patients with tuberous sclerosis complex.
Sections du résumé
BACKGROUND
Individuals with tuberous sclerosis complex are at increased risk of epilepsy. Early seizure control improves developmental outcomes, making identifying at-risk patients critically important. Despite several identified risk factors, it remains difficult to predict. The purpose of the study was to evaluate the combined risk prediction of previously identified risk factors for epilepsy in individuals with tuberous sclerosis complex.
METHODS
The study group (n = 333) consisted of individuals with tuberous sclerosis complex who were enrolled in the Tuberous Sclerosis Complex Autism Center of Excellence Research Network and UT TSC Biobank. The outcome was defined as having an epilepsy diagnosis. Potential risk factors included sex, TSC genotype, and tuber presence. Logistic regression was used to calculate the odds ratio and P value for the association between each variable and epilepsy. A clinical risk prediction model incorporating all risk factors was built. Area under the curve was calculated to characterize the full model's ability to discriminate individuals with tuberous sclerosis complex with and without epilepsy.
RESULTS
The strongest risk for epilepsy was presence of tubers (95% confidence interval: 2.39 to 10.89). Individuals with pathogenic TSC2 variants were three times more likely (95% confidence interval: 1.55 to 6.36) to develop seizures compared with those with tuberous sclerosis complex from other causes. The combination of risk factors resulted in an area under the curve 0.73.
CONCLUSIONS
Simple characteristics of patients with tuberous sclerosis complex can be combined to successfully predict epilepsy risk. A risk assessment model that incorporates sex, TSC genotype, protective TSC2 missense variant, and tuber presence correctly predicts epilepsy in 73% of patients with tuberous sclerosis complex.
Identifiants
pubmed: 33011641
pii: S0887-8994(20)30271-X
doi: 10.1016/j.pediatrneurol.2020.07.015
pmc: PMC10461434
mid: NIHMS1924006
pii:
doi:
Substances chimiques
Tuberous Sclerosis Complex 1 Protein
0
Tuberous Sclerosis Complex 2 Protein
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
46-50Subventions
Organisme : NCATS NIH HHS
ID : L40 TR002174
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS082320
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS092090
Pays : United States
Investigateurs
M Sahin
(M)
D Krueger
(D)
M Bebin
(M)
J Y Wu
(JY)
H Northrup
(H)
S Warfield
(S)
J Peters
(J)
B Scherrer
(B)
M Goyal
(M)
R Filip-Dhima
(R)
K Dies
(K)
S Bruns
(S)
E Hanson
(E)
N Bing
(N)
B Kent
(B)
S O'Kelley
(S)
M E Williams
(ME)
D Pearson
(D)
G Cutter
(G)
S Roberds
(S)
D S Murray
(DS)
Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.
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