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Front. Genet. | doi: 10.3389/fgene.2019.01026

Diagnostic Yield of a Targeted Next-generation Sequencing Gene Panel for Pediatric-onset Movement Disorders: A 3-Year Cohort Study

Federica Graziola1, 2,  Giacomo Garone1, 3, Fabrizia Stragapede1, 4, 5, Luca Bosco1, 4,  Federico Vigevano1,  Paolo Curatolo2, Enrico Bertini1, 4, Lorena Travaglini1, 4 and  Alessandro Capuano1*
  • 1Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children Hospital (IRCCS), Italy
  • 2Department of Systems Medicine, Faculty of Medicine and Surgery, University of Rome Tor Vergata, Italy
  • 3Department of Pediatrics, Bambino Gesù Pediatric Hospital (IRCCS), Italy
  • 4Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children Hospital (IRCCS), Italy
  • 5Department of Science, Roma Tre University, Italy

In recent years, genetic techniques of diagnosis have shown rapid development, resulting in a modified clinical approach to many diseases, including neurological disorders. Movement disorders, in particular those arising in childhood, pose a diagnostic challenge. First, from a purely phenomenological point of view, the correct clinical classification of signs and symptoms may be difficult and require expert evaluation. This is because the clinical picture is often a mixture of hyperkinetic and hypokinetic disorders, and within hyperkinetic movement disorders, combined phenotypes are not unusual. Second, although several genes that cause movement disorders in children are now well-known, many of them have only been described in adult populations or discovered in patients after many years of disease. Furthermore, diseases that alter their mechanisms from childhood to adulthood are still little known, and many phenotypes in children are the result of a disruption of normal neurodevelopment. High-throughput gene screening addresses these difficulties and has modified the approach to genetic diagnosis. In the exome-sequencing era, customized genetic panels now offer the ability to perform fast and low-cost screening of the genes commonly involved in the pathogenesis of the disease. Here, we describe a 3-year study using a customized gene panel for pediatric-onset movement disorders in a selected cohort of children and adolescents. We report a satisfying diagnostic yield, further confirming the usefulness of gene panel analysis.

Keywords: Dystonia, Chorea, Genetics, Children, Myoclonus, Neurotrasmitters, neurodegeneration with brain iron accumulation, next generation sequencing

Received: 09 Jun 2019; Accepted: 24 Sep 2019.

Copyright: © 2019 Graziola, Garone, Stragapede, Bosco, Vigevano, Curatolo, Bertini, Travaglini and Capuano. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Alessandro Capuano, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children Hospital (IRCCS), Rome, Lazio, Italy, alessandro.capuano@opbg.net