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Early predictors of clinical and mental outcome in tuberous sclerosis complex: A prospective study
B. Benova, B. Petrak, M. Kyncl, P. Jezdik, A. Maulisova, A. Jahodova, V. Komarek, P. Krsek,
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články
- MeSH
- genotyp MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- mentální retardace etiologie MeSH
- poruchy autistického spektra etiologie MeSH
- předškolní dítě MeSH
- prospektivní studie MeSH
- refrakterní epilepsie etiologie MeSH
- tuberózní skleróza komplikace genetika psychologie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
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 < 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 < 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.
2nd Faculty of Medicine Charles University 5 Úvalu 84 Praha 5 150 06 Czech Republic
Department of Clinical Psychology Motol University Hospital 5 Úvalu 84 Praha 5 150 06 Czech Republic
Citace poskytuje Crossref.org
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- $a Benova, Barbora $u Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic; 2nd Faculty of Medicine, Charles University, V Úvalu 84, Praha 5, 150 06, Czech Republic.
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- $a Early predictors of clinical and mental outcome in tuberous sclerosis complex: A prospective study / $c B. Benova, B. Petrak, M. Kyncl, P. Jezdik, A. Maulisova, A. Jahodova, V. Komarek, P. Krsek,
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- $a 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 < 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 < 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.
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- $a Petrak, Borivoj $u Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic.
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- $a Kyncl, Martin $u 2nd Faculty of Medicine, Charles University, V Úvalu 84, Praha 5, 150 06, Czech Republic; Department of Radiology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic.
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- $a Jezdik, Petr $u Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic; Department of Measurement, Czech Technical University in Prague, Faculty of Electrical Engineering, Technická 2, Praha 6, 166 27, Czech Republic.
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- $a Maulisova, Alice $u Department of Clinical Psychology, Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic; Charles University, Faculty of Arts, Department of Psychology, Prague, Nám. Jana Palacha 1/2, Praha 1-Staré Město, 116 38, Czech Republic.
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- $a Jahodova, Alena $u Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic; 2nd Faculty of Medicine, Charles University, V Úvalu 84, Praha 5, 150 06, Czech Republic.
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- $a Komarek, Vladimir $u Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic; 2nd Faculty of Medicine, Charles University, V Úvalu 84, Praha 5, 150 06, Czech Republic.
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- $a Krsek, Pavel $u Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic; 2nd Faculty of Medicine, Charles University, V Úvalu 84, Praha 5, 150 06, Czech Republic. Electronic address: pavel.krsek@post.cz.
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