Mortality in tuberous sclerosis complex

被引：13

作者：

Parthasarathy, Shridhar ^{[1
]}

Mahalingam, Rajeshwari ^{[1
]}

Melchiorre, Jackie ^{[1
]}

Harowitz, Jenna ^{[2
]}

Devinsky, Orrin ^{[1
,3
]}

机构：

[1] St Barnabas Inst Neurol & Neurosurg, Livingston, NJ USA

[2] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

[3] NYU, Dept Neurol, Grossman Sch Med, New York, NY 10016 USA

来源：

EPILEPSY & BEHAVIOR | 2021年 / 121卷

关键词：

Tuberous sclerosis complex; Mortality; Sudden unexpected death in epilepsy  (SUDEP); INDIVIDUALS;

D O I：

10.1016/j.yebeh.2021.108032

中图分类号：

B84 [心理学]; C [社会科学总论]; Q98 [人类学];

学科分类号：

03 ; 0303 ; 030303 ; 04 ; 0402 ;

摘要：

We studied mortality in tuberous sclerosis complex (TSC) by analyzing data from the Tuberous Sclerosis Alliance Natural History Database of 2233 patients from 18 United States TSC centers. Among 31 decedents with data; mean age of death was 29 years. Cause of death could be determined in 26 cases: 11 definitely related to TSC, 14 possibly related to TSC, and 1 unrelated to TSC. Causes of death included SUDEP in 11 (35.5%; Definite (5), Probable (4), Possible (2)), respiratory conditions in 6 (23.1%; lymphangiomyelomatosis in one), tumors in 3 (11.5%), suicide in 2 (7.7%), cardiopulmonary in 2 (7.7%), shunt malfunction in one, and drowning in one. For SUDEP cases, mean age of epilepsy onset was 7 months and 10/11 were treated with multiple anti-seizure medications (ASMs) at death; 7 had intractable epilepsy and 3 were controlled with ASMs. Patients with TSC and their families should be counseled about ASM adherence and lifestyle factors, and the potential role of nocturnal supervision or seizure detection devices to prevent SUDEP. (c) 2021 Elsevier Inc. All rights reserved.

引用

页数：3

共 10 条

[1] Causes of mortality in individuals with tuberous sclerosis complex [J].

Amin, Sam ;

Lux, Andrew ;

Calder, Nuala ;

Laugharne, Matthew ;

Osborne, John ;

O'callaghan, Finbar .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2017, 59 (06) :612-617

[2] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs [J].

Dabora, SL ;

Jozwiak, S ;

Franz, DN ;

Roberts, PS ;

Nieto, A ;

Chung, J ;

Choy, YS ;

Reeve, MP ;

Thiele, E ;

Egelhoff, JC ;

Kasprzyk-Obara, J ;

Domanska-Pakiela, D ;

Kwiatkowski, DJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) :64-80

[3] Resolving ambiguities in SUDEP classification [J].

Devinsky, Orrin ;

Bundock, Elizabeth ;

Hesdorffer, Dale ;

Donner, Elizabeth ;

Moseley, Brian ;

Cihan, Esma ;

Hussain, Fizza ;

Friedman, Daniel .

EPILEPSIA, 2018, 59 (06) :1220-1233

[4]

Devinsky O, 2016, LANCET NEUROL, V15, P1075, DOI 10.1016/S1474-4422(16)30158-2

[5] Tuberous sclerosis complex [J].

Henske, Elizabeth P. ;

Jozwiak, Sergiusz ;

Kingswood, J. Christopher ;

Sampson, Julian R. ;

Thiele, Elizabeth A. .

NATURE REVIEWS DISEASE PRIMERS, 2016, 2

[6] Combined analysis of risk factors for SUDEP [J].

Hesdorffer, Dale C. ;

Tomson, Torbjorn ;

Benn, Emma ;

Sander, Josemir W. ;

Nilsson, Lena ;

Langan, Yvonne ;

Walczak, Thaddeus S. ;

Beghi, Ettore ;

Brodie, Martin J. ;

Hauser, Allen .

EPILEPSIA, 2011, 52 (06) :1150-1159

[7]

Islam Monica P, 2015, Handb Clin Neurol, V132, P97, DOI 10.1016/B978-0-444-62702-5.00006-8

[8]

Sperling Michael R., 2001, Epilepsy Curr, V1, P21, DOI 10.1046/j.1535-7597.2001.00012.x

[9] Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing [J].

Tyburczy, Magdalena E. ;

Dies, Kira A. ;

Glass, Jennifer ;

Camposano, Susana ;

Chekaluk, Yvonne ;

Thorner, Aaron R. ;

Lin, Ling ;

Krueger, Darcy ;

Franz, David N. ;

Thiele, Elizabeth A. ;

Sahin, Mustafa ;

Kwiatkowski, David J. .

PLOS GENETICS, 2015, 11 (11)

[10] A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC) [J].

Zoellner, Johann Philipp ;

Franz, David Neal ;

Hertzberg, Christoph ;

Nabbout, Rima ;

Rosenow, Felix ;

Sauter, Matthias ;

Schubert-Bast, Susanne ;

Wiemer-Kruel, Adelheid ;

Strzelczyk, Adam .

ORPHANET JOURNAL OF RARE DISEASES, 2020, 15 (01)

← 1 →