Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F23%3A10466076" target="_blank" >RIV/00064165:_____/23:10466076 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/23:10466076
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=WxubqOwgRV" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=WxubqOwgRV</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.parkreldis.2023.105352" target="_blank" >10.1016/j.parkreldis.2023.105352</a>
Alternative languages
Result language
angličtina
Original language name
Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders
Original language description
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 & PLUSMN;16y6m, mean GMFCS score 3.3 & PLUSMN; 1.4), and the CP-like group with 52 subjects (29 males; mean age 17y7m & PLUSMN;1y,6 m, mean GMFCS score 2,6 & PLUSMN; 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/LX22NPO5107" target="_blank" >LX22NPO5107: National institute for Neurological Research</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Parkinsonism and Related Disorders
ISSN
1353-8020
e-ISSN
1873-5126
Volume of the periodical
111
Issue of the periodical within the volume
June
Country of publishing house
GB - UNITED KINGDOM
Number of pages
6
Pages from-to
105352
UT code for WoS article
001015124100001
EID of the result in the Scopus database
2-s2.0-85151462550