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32 záznamů v Medvik Filtry

Článek

Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex

Hulshof, Hanna M
Autor Hulshof, Hanna M ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland. h.m.hulshof-3@umcutrecht.nl
Kuijf, Hugo J
Autor Kuijf, Hugo J ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Kotulska, Katarzyna
Autor Kotulska, Katarzyna ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Curatolo, Paolo
Autor Curatolo, Paolo ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Weschke, Bernhard
Autor Weschke, Bernhard ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Riney, Kate
Autor Riney, Kate ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Krsek, Pavel
Autor Krsek, Pavel ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Feucht, Martha
Autor Feucht, Martha ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Nabbout, Rima
Autor Nabbout, Rima ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Lagae, Lieven
Autor Lagae, Lieven ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland

Neurology. 2022 ; 98 (12) : e1216-e1225. [pub] 20220131

ISSN 1526-632X
Medvik
Zdroj

BACKGROUND AND OBJECTIVES: Multiple factors have been found to contribute to the high risk of epilepsy in infants with tuberous sclerosis complex (TSC), including evolution of EEG abnormalities, TSC gene variant, and MRI characteristics. The aim of this prospective multicenter study was to identify early MRI biomarkers of epilepsy in infants with TSC aged <6 months and before seizure onset, and associate these MRI biomarkers with neurodevelopmental outcomes at 2 years of age. The study was part of the EPISTOP project. METHODS: We evaluated brain MRIs performed in infants younger than 6 months with TSC. We used harmonized MRI protocols across centers and children were monitored closely with neuropsychological evaluation and serial video EEG. MRI characteristics, defined as tubers, radial migration lines, white matter abnormalities, cysts, calcifications, subependymal nodules (SEN), and subependymal giant cell astrocytoma (SEGA), were visually evaluated and lesions were detected semiautomatically. Lesion to brain volume ratios were calculated and associated with epilepsy and neurodevelopmental outcomes at 2 years. RESULTS: Lesions were assessed on MRIs from 77 infants with TSC; 62 MRIs were sufficient for volume analysis. The presence of tubers and higher tuber-brain ratios were associated with the development of clinical seizures, independently of TSC gene variation and preventive treatment. Furthermore, higher tuber-brain ratios were associated with lower cognitive and motor development quotients at 2 years, independently of TSC gene variation and presence of epilepsy. DISCUSSION: In infants with TSC, there is a significant association between characteristic TSC lesions detected on early brain MRI and development of clinical seizures, as well as neurodevelopmental outcomes in the first 2 years of life. According to our results, early brain MRI findings may guide clinical care for young children with TSC. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that in infants with TSC, there is a significant association between characteristic TSC lesions on early brain MRI and the development of clinical seizures and neurodevelopmental outcomes in the first 2 years of life.

MeSH
dítě MeSH
epilepsie * komplikace etiologie MeSH
kojenec MeSH
lidé MeSH
magnetická rezonanční tomografie MeSH
předškolní dítě MeSH
prospektivní studie MeSH
tuberózní skleróza * komplikace diagnostické zobrazování genetika MeSH
záchvaty komplikace MeSH
Check Tag
dítě MeSH
kojenec MeSH
lidé MeSH
předškolní dítě MeSH
Publikační typ
časopisecké články MeSH
multicentrická studie MeSH
práce podpořená grantem MeSH

Článek

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial

Annals of neurology. 2021 ; 89 (2) : 304-314. [pub] 20201127

Ann Neurol
ISSN 1531-8249
Medvik
Zdroj

OBJECTIVE: Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant to medication. Recently, the concept of preventive antiepileptic treatment to modify the natural history of epilepsy has been proposed. EPISTOP was a clinical trial designed to compare preventive versus conventional antiepileptic treatment in TSC infants. METHODS: In this multicenter study, 94 infants with TSC without seizure history were followed with monthly video electroencephalography (EEG), and received vigabatrin either as conventional antiepileptic treatment, started after the first electrographic or clinical seizure, or preventively when epileptiform EEG activity before seizures was detected. At 6 sites, subjects were randomly allocated to treatment in a 1:1 ratio in a randomized controlled trial (RCT). At 4 sites, treatment allocation was fixed; this was denoted an open-label trial (OLT). Subjects were followed until 2 years of age. The primary endpoint was the time to first clinical seizure. RESULTS: In 54 subjects, epileptiform EEG abnormalities were identified before seizures. Twenty-seven were included in the RCT and 27 in the OLT. The time to the first clinical seizure was significantly longer with preventive than conventional treatment [RCT: 364 days (95% confidence interval [CI] = 223-535) vs 124 days (95% CI = 33-149); OLT: 426 days (95% CI = 258-628) vs 106 days (95% CI = 11-149)]. At 24 months, our pooled analysis showed preventive treatment reduced the risk of clinical seizures (odds ratio [OR] = 0.21, p = 0.032), drug-resistant epilepsy (OR = 0.23, p = 0.022), and infantile spasms (OR = 0, p < 0.001). No adverse events related to preventive treatment were noted. INTERPRETATION: Preventive treatment with vigabatrin was safe and modified the natural history of seizures in TSC, reducing the risk and severity of epilepsy. ANN NEUROL 2021;89:304-314.

MeSH
antikonvulziva terapeutické užití MeSH
elektroencefalografie MeSH
epilepsie farmakoterapie etiologie patofyziologie prevence a kontrola MeSH
kojenec MeSH
křeče u dětí prevence a kontrola MeSH
lidé MeSH
novorozenec MeSH
plošný screening MeSH
refrakterní epilepsie prevence a kontrola MeSH
tuberózní skleróza komplikace patofyziologie MeSH
vigabatrin terapeutické užití MeSH
záchvaty diagnóza farmakoterapie etiologie prevence a kontrola MeSH
Check Tag
kojenec MeSH
lidé MeSH
mužské pohlaví MeSH
novorozenec MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH
randomizované kontrolované studie MeSH

Článek

May intraoperative detection of stereotactically inserted intracerebral electrodes increase precision of resective epilepsy surgery

European journal of paediatric neurology. 2021 ; 35 (-) : 49-55. [pub] 20210925

Eur J Paediatr Neurol
ISSN 1532-2130
Medvik
Zdroj

OBJECT: Epilepsy surgery is an effective treatment for selected patients with focal intractable epilepsy. Complete removal of the epileptogenic zone significantly increases the chances for postoperative seizure-freedom. In complex surgical candidates, delineation of the epileptogenic zone requires a long-term invasive video/EEG from intracranial electrodes. It is especially challenging to achieve a complete resection in deep brain structures such as opercular-insular cortex. We report a novel approach utilizing intraoperative visual detection of stereotactically implanted depth electrodes to inform and guide the extent of surgical resection. METHODS: We retrospectively reviewed data of pediatric patients operated in Motol Epilepsy Center between October 2010 and June 2020 who underwent resections guided by intraoperative visual detection of depth electrodes following SEEG. The outcome in terms of seizure- and AED-freedom was assessed individually in each patient. RESULTS: Nineteen patients (age at surgery 2.9-18.6 years, median 13 years) were included in the study. The epileptogenic zone involved opercular-insular cortex in eighteen patients. The intraoperative detection of the electrodes was successful in seventeen patients and the surgery was regarded complete in sixteen. Thirteen patients were seizure-free at final follow-up including six drug-free cases. The successful intraoperative detection of the electrodes was associated with favorable outcome in terms of achieving complete resection and seizure-freedom in most cases. On the contrary, the patients in whom the procedure failed had poor postsurgical outcome. CONCLUSION: The reported technique helps to achieve the complete resection in challenging patients with the epileptogenic zone in deep brain structures.

Článek

The epileptogenic zone in children with tuberous sclerosis complex is characterized by prominent features of focal cortical dysplasia

Epilepsia open. 2021 ; 6 (4) : 663-671. [pub] 20210806

Epilepsia Open
ISSN 2470-9239
Medvik
Zdroj

OBJECTIVE: Patients with tuberous sclerosis complex (TSC) present with drug-resistant epilepsy in about 60% of cases, and evaluation for epilepsy surgery may be warranted. Correct delineation of the epileptogenic zone (EZ) among multiple dysplastic lesions on MRI represents a challenging step in pre-surgical evaluation. METHODS: Two experienced neuroradiologists evaluated pre- and post-surgical MRIs of 28 epilepsy surgery patients with TSC, assessing characteristics of tubers, cysts, calcifications, and focal cortical dysplasia (FCD)-resembling lesions. Utilizing multiple metrics, we compared MRI features of the EZ-defined as the resected area in TSC patients who achieved seizure-freedom 2 years after epilepsy surgery-with features of other brain areas. Using combinatorial analysis, we identified combinations of dysplastic features that are most frequently observed in the epileptogenic zone in TSC patients. RESULTS: All TSC-associated dysplastic features were more frequently observed in the EZ than in other brain areas (increased cortical thickness, gray-white matter blurring, transmantle sign, calcifications, and tubers; Kendal's tau 0.35, 0.25, 0.27, 0.26, and 0.23, respectively; P value <.001 in all). No single feature could reliably and independently indicate the EZ in all patients. Conversely, the EZ was indicated by the presence of the combination of three of the following features: tubers, transmantle sign, increased cortical thickness, calcifications, and the largest FCD-affected area. Out of these, the largest FCD-affected area emerged as the most reliable indicator of the EZ, combined either with calcifications or tubers. SIGNIFICANCE: The epileptogenic zone in TSC patients harbors multiple dysplastic features, consistent with focal cortical dysplasia. A specific combination of these features can indicate the EZ and aid in pre-surgical MRI evaluation in epilepsy surgery candidates with TSC.

MeSH
dítě MeSH
epilepsie * komplikace etiologie MeSH
lidé MeSH
magnetická rezonanční tomografie MeSH
malformace mozkové kůry * komplikace diagnostické zobrazování patologie MeSH
mozek patologie MeSH
tuberózní skleróza * komplikace diagnostické zobrazování MeSH
Check Tag
dítě MeSH
lidé MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH

Článek

Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes

Epilepsia. 2021 ; 62 (5) : 1208-1219. [pub] 20210329

ISSN 1528-1167
Medvik
Zdroj

OBJECTIVE: To study the association between timing and characteristics of the first electroencephalography (EEG) with epileptiform discharges (ED-EEG) and epilepsy and neurodevelopment at 24 months in infants with tuberous sclerosis complex (TSC). METHODS: Patients enrolled in the prospective Epileptogenesis in a genetic model of epilepsy - Tuberous sclerosis complex (EPISTOP) trial, had serial EEG monitoring until the age of 24 months. The timing and characteristics of the first ED-EEG were studied in relation to clinical outcome. Epilepsy-related outcomes were analyzed separately in a conventionally followed group (initiation of vigabatrin after seizure onset) and a preventive group (initiation of vigabatrin before seizures, but after appearance of interictal epileptiform discharges [IEDs]). RESULTS: Eighty-three infants with TSC were enrolled at a median age of 28 days (interquartile range [IQR] 14-54). Seventy-nine of 83 patients (95%) developed epileptiform discharges at a median age of 77 days (IQR 23-111). Patients with a pathogenic TSC2 variant were significantly younger (P-value .009) at first ED-EEG and more frequently had multifocal IED (P-value .042) than patients with a pathogenic TSC1 variant. A younger age at first ED-EEG was significantly associated with lower cognitive (P-value .010), language (P-value .001), and motor (P-value .013) developmental quotients at 24 months. In the conventional group, 48 of 60 developed seizures. In this group, the presence of focal slowing on the first ED-EEG was predictive of earlier seizure onset (P-value .030). Earlier recording of epileptiform discharges (P-value .019), especially when multifocal (P-value .026) was associated with higher risk of drug-resistant epilepsy. In the preventive group, timing, distribution of IED, or focal slowing, was not associated with the epilepsy outcomes. However, when multifocal IEDs were present on the first ED-EEG, preventive treatment delayed the onset of seizures significantly (P-value <.001). SIGNIFICANCE: Early EEG findings help to identify TSC infants at risk of severe epilepsy and neurodevelopmental delay and those who may benefit from preventive treatment with vigabatrin.

MeSH
antikonvulziva terapeutické užití MeSH
časná diagnóza * MeSH
elektroencefalografie MeSH
epilepsie diagnóza farmakoterapie etiologie MeSH
hamartin genetika MeSH
kojenec MeSH
lidé MeSH
novorozenec MeSH
tuberin genetika MeSH
tuberózní skleróza komplikace diagnóza genetika MeSH
vigabatrin terapeutické užití MeSH
vývojové poruchy u dětí epidemiologie etiologie MeSH
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kojenec MeSH
lidé MeSH
mužské pohlaví MeSH
novorozenec MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
klinické zkoušky MeSH
práce podpořená grantem MeSH

Článek

Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex

The Journal of pediatrics. 2021 ; 233 (-) : 156-162.e2. [pub] 20210226

J Pediatr
ISSN 1097-6833
Medvik
Zdroj

OBJECTIVE: To correlate fetal brain magnetic resonance imaging (MRI) findings with epilepsy characteristics and neurodevelopment at 2 years of age in children with tuberous sclerosis complex (TSC) to improve prenatal counseling. STUDY DESIGN: This retrospective cohort study was performed in a collaboration between centers of the EPISTOP consortium. We included children with definite TSC, fetal MRIs, and available follow-up data at 2 years of age. A pediatric neuroradiologist masked to the patient's clinical characteristics evaluated all fetal MRIs. MRIs were categorized for each of the 10 brain lobes as score 0: no (sub)cortical lesions or doubt; score 1: a single small lesion; score 2: more than one small lesion or at least one large lesion (>5 mm). Neurologic manifestations were correlated to lesion sum scores. RESULTS: Forty-one children were included. Median gestational age at MRI was 33.3 weeks; (sub)cortical lesions were detected in 97.6%. Mean lesion sum score was 4.5. At 2 years, 58.5% of patients had epilepsy and 22% had drug-resistant epilepsy. Cognitive, language, and motor development were delayed in 38%, 81%, and 50% of patients, respectively. Autism spectrum disorder (ASD) was diagnosed in 20.5%. Fetal MRI lesion sum scores were significantly associated with cognitive and motor development, and with ASD diagnosis, but not with epilepsy characteristics. CONCLUSIONS: Fetal cerebral lesion scores correlate with neurodevelopment and ASD at 2 years in children with TSC.

MeSH
epilepsie epidemiologie MeSH
kognitivní poruchy epidemiologie MeSH
kohortové studie MeSH
kojenec MeSH
lidé MeSH
magnetická rezonanční tomografie * MeSH
mozek diagnostické zobrazování MeSH
následné studie MeSH
neurovývojové poruchy epidemiologie MeSH
předškolní dítě MeSH
retrospektivní studie MeSH
těhotenství MeSH
tuberózní skleróza epidemiologie MeSH
vývojové poruchy řeči epidemiologie MeSH
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kojenec MeSH
lidé MeSH
předškolní dítě MeSH
těhotenství MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
multicentrická studie MeSH
práce podpořená grantem MeSH

Kapitola

Neurovývojová onemocnění

Základy dětské neurologie. 2021 ; () : 61-71.

ISBN 978-80-7492-510-8
Medvik
Zdroj

Klíčová slova
hyperaktivita,
MeSH
autistická porucha diagnóza MeSH
centrální nervový systém růst a vývoj MeSH
diferenciální diagnóza MeSH
dítě MeSH
lidé MeSH
nemoci centrálního nervového systému klasifikace vrozené MeSH
nemoci mozku diagnostické zobrazování diagnóza klasifikace patologie MeSH
neurovývojové poruchy * diagnóza klasifikace patologie MeSH
neurulace MeSH
poruchy autistického spektra diagnóza MeSH
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dítě MeSH
lidé MeSH
Publikační typ
přehledy MeSH

Článek

European journal of paediatric neurology. 2021 ; 30 (-) : 88-96. [pub] 20210106

Eur J Paediatr Neurol
ISSN 1532-2130
Medvik
Zdroj

BACKGROUND: Variants of GATOR1-genes represent a recognised cause of focal cortical dysplasia (FCD), the most common structural aetiology in paediatric drug-resistant focal epilepsy. Reports on familial cases of GATOR1-associated FCD are limited, especially with respect to epilepsy surgery outcomes. METHODS: We present phenotypical manifestations of four unrelated patients with drug-resistant focal epilepsy, FCD and a first-degree relative with epilepsy. All patients underwent targeted gene panel sequencing as a part of the presurgical work up. Literature search was performed to compare our findings to previously published cases. RESULTS: The children (probands) had a more severe phenotype than their parents, including drug-resistant epilepsy and developmental delay, and they failed to achieve seizure freedom post-surgically. All patients had histopathologically confirmed FCD (types IIa, IIb, Ia). In Patient 1 and her affected father, we detected a known pathogenic NPRL2 variant. In patients 2 and 3 and their affected parents, we found novel likely pathogenic germline DEPDC5 variants. In family 4, we detected a novel variant in NPRL3. We identified 15 additional cases who underwent epilepsy surgery for GATOR1-associated FCD, with a positive family history of epilepsy in the literature; in 8/13 tested, the variant was inherited from an asymptomatic parent. CONCLUSION: The presented cases displayed a severity gradient in phenotype with children more severely affected than the parents. Although patients with GATOR1-associated FCD are considered good surgical candidates, post-surgical seizure outcome was poor in our familial cases, suggesting that accurate identification of the epileptogenic zone may be more challenging in this subgroup of patients.