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Pavelekova, P.* ; Necpál, J.* ; Jech, R.* ; Havránková, P.* ; Švantnerová, J.* ; Jurkova, V.* ; Gdovinova, Z.* ; Lackova, A.* ; Han, V.* ; Winkelmann, J. ; Zech, M. ; Škorvánek, M.*

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

Parkinsonism Relat. Disord. 111:105352 (2023)
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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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Publication type Article: Journal article
Document type Scientific Article
Keywords Cerebral Palsy ; Cerebral Palsy-like ; Dystonic Cerebral Palsy ; Wes ; Whole Exome Sequencing; De-novo; Classification; Association; Definition
ISSN (print) / ISBN 1353-8020
e-ISSN 1873-5126
Journal Parkinsonism & Related Disorders
Quellenangaben Volume: 111, Issue: , Pages: , Article Number: 105352 Supplement: ,
Publisher Elsevier
Publishing Place The Boulevard, Langford Lane, Kidlington, Oxford Ox5 1gb, Oxon, England
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants
German Research Foundation (DFG)
Helmholtz Zentrum Munchen, Munich, Germany
Technische Universitat Munchen, Munich, Germany
Else Kroner-Fresenius-Stiftung
Charles University
National Institute for Neurological Research - European Union - Next Generation EU
Eu- ropean Union - Next Generation EU
ERDF
Slovak Grant and Development Agency