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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/23:10466076

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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 &amp; PLUSMN;16y6m, mean GMFCS score 3.3 &amp; PLUSMN; 1.4), and the CP-like group with 52 subjects (29 males; mean age 17y7m &amp; PLUSMN;1y,6 m, mean GMFCS score 2,6 &amp; 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&apos;s exact p = 0.0065. We did not observe the same tendency in CP-like (45.5% vs 58.5%); Fisher&apos;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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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 &amp; PLUSMN;16y6m, mean GMFCS score 3.3 &amp; PLUSMN; 1.4), and the CP-like group with 52 subjects (29 males; mean age 17y7m &amp; PLUSMN;1y,6 m, mean GMFCS score 2,6 &amp; 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&apos;s exact p = 0.0065. We did not observe the same tendency in CP-like (45.5% vs 58.5%); Fisher&apos;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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

<a href="/cs/project/LX22NPO5107" target="_blank" >LX22NPO5107: Národní ústav pro neurologický výzkum</a><br>

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Parkinsonism and Related Disorders

ISSN

1353-8020

e-ISSN

1873-5126

Svazek periodika

111

Číslo periodika v rámci svazku

June

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

6

Strana od-do

105352

Kód UT WoS článku

001015124100001

EID výsledku v databázi Scopus

2-s2.0-85151462550