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Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders

P. Pavelekova, J. Necpal, R. Jech, P. Havrankova, J. Svantnerova, V. Jurkova, Z. Gdovinova, A. Lackova, V. Han, J. Winkelmann, M. Zech, M. Skorvanek

. 2023 ; 111 (-) : 105352. [pub] 20230304

Language English Country England, Great Britain

Document type Journal Article, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc23011233

INTRODUCTION: Cerebral palsy (CP) is a group of permanent disorders attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. Cerebral palsy-like (CP-like) disorders may clinically resemble CP but do not fulfill CP criteria and have often a progressive course and/or neurodevelopmental regression. To assess which patients with dystonic CP and dystonic CP-like disorder should undergo Whole Exome Sequencing (WES), we compared the rate of likely causative variants in individuals regarding their clinical picture, co-morbidities, and environmental risk factors. METHOD: Individuals with early onset neurodevelopmental disorder (ND) manifesting with dystonia as a core feature were divided into CP or CP-like cohorts based on their clinical picture and disease course. Detailed clinical picture, co-morbidities, and environmental risk factors including prematurity, asphyxia, SIRS, IRDS, and cerebral bleeding were evaluated. RESULTS: A total of 122 patients were included and divided into the CP group with 70 subjects (30 males; mean age 18y5m±16y6m, mean GMFCS score 3.3 ± 1.4), and the CP-like group with 52 subjects (29 males; mean age 17y7m±1y,6 m, mean GMFCS score 2,6 ± 1,5). The WES-based diagnosis was present in 19 (27.1%) CP patients and 30 CP-like patients (57.7%) with genetic conditions overlap in both groups. We found significant differences in diagnostic rate in CP individuals with vs. without risk factors (13.9% vs. 43.3%); Fisher's exact p = 0.0065. We did not observe the same tendency in CP-like (45.5% vs 58.5%); Fisher's exact p = 0.5. CONCLUSION: WES is a useful diagnostic method for patients with dystonic ND, regardless of their presentation as a CP or CP-like phenotype.

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$a Pavelekova, P $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia. Electronic address: petradosekova@gmail.com
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$a Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders / $c P. Pavelekova, J. Necpal, R. Jech, P. Havrankova, J. Svantnerova, V. Jurkova, Z. Gdovinova, A. Lackova, V. Han, J. Winkelmann, M. Zech, M. Skorvanek
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$a INTRODUCTION: Cerebral palsy (CP) is a group of permanent disorders attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. Cerebral palsy-like (CP-like) disorders may clinically resemble CP but do not fulfill CP criteria and have often a progressive course and/or neurodevelopmental regression. To assess which patients with dystonic CP and dystonic CP-like disorder should undergo Whole Exome Sequencing (WES), we compared the rate of likely causative variants in individuals regarding their clinical picture, co-morbidities, and environmental risk factors. METHOD: Individuals with early onset neurodevelopmental disorder (ND) manifesting with dystonia as a core feature were divided into CP or CP-like cohorts based on their clinical picture and disease course. Detailed clinical picture, co-morbidities, and environmental risk factors including prematurity, asphyxia, SIRS, IRDS, and cerebral bleeding were evaluated. RESULTS: A total of 122 patients were included and divided into the CP group with 70 subjects (30 males; mean age 18y5m±16y6m, mean GMFCS score 3.3 ± 1.4), and the CP-like group with 52 subjects (29 males; mean age 17y7m±1y,6 m, mean GMFCS score 2,6 ± 1,5). The WES-based diagnosis was present in 19 (27.1%) CP patients and 30 CP-like patients (57.7%) with genetic conditions overlap in both groups. We found significant differences in diagnostic rate in CP individuals with vs. without risk factors (13.9% vs. 43.3%); Fisher's exact p = 0.0065. We did not observe the same tendency in CP-like (45.5% vs 58.5%); Fisher's exact p = 0.5. CONCLUSION: WES is a useful diagnostic method for patients with dystonic ND, regardless of their presentation as a CP or CP-like phenotype.
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$a Necpal, J $u Department of Neurology, Zvolen Hospital, Zvolen, Slovakia; 2nd Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia
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$a Jech, R $u Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic
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$a Havrankova, P $u Department of Neurology, Charles University and General University Hospital in Prague, Prague, Czech Republic
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$a Svantnerova, J $u 2nd Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia
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$a Jurkova, V $u Institute of Mathematics, Faculty of Science, P. J. Safarik University, Kosice, Slovakia
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$a Gdovinova, Z $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia
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$a Lackova, A $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia
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$a Han, V $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia
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$a Winkelmann, J $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany
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$a Zech, M $u Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany
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$a Skorvanek, M $u Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovakia; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia
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