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. 2021 Dec;100(6):766-770.
doi: 10.1111/cge.14061. Epub 2021 Sep 19.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

Amelie T van der Ven  1 , Jessika Johannsen  2 , Fanny Kortüm  1 , Matias Wagner  3   4 , Konstantinos Tsiakas  2 , Tatjana Bierhals  1 , Davor Lessel  1 , Theresia Herget  1 , Katja Kloth  1 , Jasmin Lisfeld  1 , Tasja Scholz  1 , Nadia Obi  5 , Saskia Wortmann  3   4   6 , Holger Prokisch  3   4 , Christian Kubisch  1   7 , Jonas Denecke  2 , René Santer  2   7 , Maja Hempel  1   7
Affiliations

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

Amelie T van der Ven et al. Clin Genet. 2021 Dec.

Abstract

Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially rapid clinical decline and the availability of management options. In 491 children with neurological symptoms, a comprehensive diagnostic work-up including exome sequencing was performed. The success rate in terms of a molecular genetic diagnosis within our cohort was 51%. Disease-causing variants in a mitochondria-associated gene were detected in 12% of solved cases. In order to facilitate the clinical identification of MDs within neuropediatric cohorts, we have created an easy-to-use bedside-tool, the MDC-NP. In our cohort, the MDC-NP predicted disease conditions related to MDs with a sensitivity of 0.83, and a specificity of 0.96.

Keywords: child development disorders; early diagnosis; medical genetics; mitochondria; whole exome sequencing.

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