Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

被引：12

作者：

Leal-Pardinas, Fernanda ^{[1
]}

Truty, Rebecca ^{[2
]}

McKnight, Dianalee A. ^{[2
]}

Johnson, Britt ^{[2
]}

Morales, Ana ^{[2
]}

Bristow, Sara L. ^{[2
]}

Pang, Tiffany Yar ^{[1
]}

Cohen-Pfeffer, Jessica ^{[1
]}

Izzo, Emanuela ^{[1
]}

Sankar, Raman ^{[3
]}

Koh, Sookyong ^{[4
]}

Wirrell, Elaine C. ^{[5
]}

Millichap, John J. ^{[6
]}

Aradhya, Swaroop ^{[2
]}

机构：

[1] BioMarin Pharmaceut Inc, Novato, CA USA

[2] Invitae, San Francisco, CA 94103 USA

[3] Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA

[4] Univ Nebraska Med Ctr, Omaha, NE USA

[5] Mayo Clin, Rochester, MN USA

[6] Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA

来源：

EPILEPSIA | 2022年 / 63卷 / 07期

关键词：

Batten disease; developmental delay; enzyme replacement therapy; genetic epilepsy; genetic testing; neuronal ceroid lipofuscinosis; CLN2; DISEASE; VARIANTS; SEQUENCE;

D O I：

10.1111/epi.17269

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Individuals who received epilepsy gene panel testing through Behind the Seizure (R), a sponsored genetic testing program (Cohort A), were compared to children outside of the sponsored testing program during the same period (Cohort B). Two cohorts were analyzed: children aged >= 24 to <= 60 months with unprovoked seizure onset at >= 24 months between December 2016 and January 2020 (Cohort 1) and children aged 0 to <= 60 months at time of testing with unprovoked seizure onset at any age between February 2019 and January 2020 (Cohort 2). The diagnostic yield in Cohort 1A (n = 1814) was 8.4% (n = 153). The TPP1 diagnostic yield within Cohort 1A was 2.9-fold higher compared to Cohort 1B (1.0%, n = 18/1814 vs. .35%, n = 8/2303; p = .0157). The average time from first symptom to CLN2 disease diagnosis was significantly shorter than previously reported (9.8 vs. 22.7 months, p < .001). These findings indicate that facilitated access to early epilepsy gene panel testing helps to increase diagnostic yield for CLN2 disease and shortens the time to diagnosis, enabling earlier intervention.

引用

页码：E68 / E73

页数：6

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