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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

Corresponding Author

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, Article Number: 105352

Publisher Elsevier

Publishing Place The Boulevard, Langford Lane, Kidlington, Oxford Ox5 1gb, Oxon, England

Non-patent literature Publications

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