Early predictors of clinical and mental outcome in tuberous sclerosis complex: A prospective study

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10375895" target="_blank" >RIV/00216208:11130/18:10375895 - isvavai.cz</a>

Alternative codes found

RIV/68407700:21230/18:00321143 RIV/00216208:11210/18:10375895 RIV/00064203:_____/18:10375895

Result on the web

<a href="https://doi.org/10.1016/j.ejpn.2018.03.001" target="_blank" >https://doi.org/10.1016/j.ejpn.2018.03.001</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.ejpn.2018.03.001" target="_blank" >10.1016/j.ejpn.2018.03.001</a>

Result language

angličtina

Original language name

Early predictors of clinical and mental outcome in tuberous sclerosis complex: A prospective study

Original language description

Aim: We aimed to identify early predictors of intractable epilepsy, intellectual disability (ID) and autism spectrum disorders (ASD) in the cohort of TSC patients initially diagnosed with cardiac rhabdomyomas (CR). Method: Over the period of twelve years we prospectively obtained clinical, neuropsychological, electrophysiological and neuroimaging data in a group of 22 TSC patients (9 females, 13 males) with the pre/perinatal diagnosis of CR, included to the study at the time of diagnosis. Afterwards, we statistically determined variables associated with ID, ASD and intractable epilepsy. Results: Development of ID was predicted by severe epilepsy (a higher number of anti-epileptic drugs used), a higher number of dysplastic lesions on MRI, and abnormal background activity on EEG (p &lt; 0.05). Predictors of ASD included early developmental delay, abnormal background activity on EEG at the end of follow-up and a higher number of areas with dysplastic features on MRI (p &lt; 0.05). Intractable epilepsy was associated with a higher number of areas with dysplastic features on MRI, ID and with TSC2 genotype. Conclusion: Adverse mental and clinical outcome was associated with intractable epilepsy and the severe anatomical brain involvement; therefore, our centre developed a tailored protocol for early identification of TSC patients at a higher risk of developing intractable epilepsy with its deleterious effect on cognitive outcome.

Czech name

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Czech description

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Type

J_imp - 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)

Project

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Continuities

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

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

Name of the periodical

European Journal of Paediatric Neurology

ISSN

1090-3798

e-ISSN

—

Volume of the periodical

22

Issue of the periodical within the volume

4

Country of publishing house

GB - UNITED KINGDOM

Number of pages

10

Pages from-to

632-641

UT code for WoS article

000437052600013

EID of the result in the Scopus database

2-s2.0-85045009919