Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.


Journal

Pediatric neurology
ISSN: 1873-5150
Titre abrégé: Pediatr Neurol
Pays: United States
ID NLM: 8508183

Informations de publication

Date de publication:
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

46-50

Subventions

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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Auteurs

Laura S Farach (LS)

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas. Electronic address: Laura.S.Farach@uth.tmc.edu.

Melissa A Richard (MA)

Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas.

Philip J Lupo (PJ)

Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas.

Mustafa Sahin (M)

Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Darcy A Krueger (DA)

Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Joyce Y Wu (JY)

Division of Pediatric Neurology, UCLA Mattel Children's Hospital and David Geffen School of Medicine, Los Angeles, California.

Elizabeth M Bebin (EM)

University of Alabama at Birmingham, Birmingham, Alabama.

Kit Sing Au (KS)

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

Hope Northrup (H)

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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