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1. Iron and infection : neonatal iron transition

Author

Cross, J. H., Cerami, C., and Prentice, A. M.

Subjects
618.92
Abstract

Neonates, particularly those born preterm (PTB) and low birthweight (LBW), are especially susceptible to bacterial infections that cause an estimated 225,000 deaths annually. Iron is a vital substrate for the most common organisms causing septicaemia. Full-term babies elicit an immediate post-natal hypoferremia assumed to have evolved as an innate defence. This thesis aimed to test whether preterm and low birthweight newborns are capable of a similar response. A longitudinal observational study was conducted in 430 hospital-delivered Gambian babies. Demographic, anthropometric and haematological data were collected from 152 babies who were either PTB (between ≥32- < 37 weeks gestational age) and/or LBW (< 2500g) (PTB/LBW) and 278 full-term, normal-weight babies (FTB/NBW). Blood was sampled from the umbilical cord and matched venous blood samples from all neonates between 6-24 hours after delivery. An additional matched venous blood sample was taken from all full-term, normal birth weight newborns between 24-192 hours of life. In both FTB/NBW and PTB/LBW neonates, serum iron decreased 3-fold compared to umbilical blood concentrations within 12h of delivery (23·3±0·35 vs 7·5±0·22 ng/ml, P < 0.001, n=425). Hepcidin levels doubled (27·0±0·96 vs 52·9±1·63 ng/ml, P < 0·001, n=425). In FTB/NBW neonates, a steady increase in serum iron and TSAT follows (to 16.5±3.9μmol/L and 36.7±9.2% respectively by 136-192hrs postdelivery), even in the presence of relatively high serum hepcidin levels (45.2±19.1ng/ml) suggestive of hepcidin resistance possibly caused by iron saturation of macrophages. Our findings confirm that a very rapid hypoferremia occurs in the early hours of post-natal life with evidence that it is mediated by an increase in hepcidin. The strength and consistency of this effect in all neonates indicates that it may have evolved as an innate immune response designed to protect newborns from bacterial septicaemia.

Published
2020
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2. Individualized prediction of seizure relapse and outcomes following antiepileptic drug withdrawal after pediatric epilepsy surgery

Author

Lamberink, Herm J., Boshuisen, Kim, Otte, Willem M., Geleijns, Karin, Braun, Kees P. J., Feucht, M, Gröppel, G, Kahane, P, Minotti, L, Arzimanoglou, A, Ryvlin, P, Panagiotakaki, E, de Bellescize, J, Ostrowsky‐Coste, K, Hirsch, E, Valenti, M, Polster, T, Sassen, R, Hoppe, C, Kuczaty, S, Elger, C, Schubert, S, Strobl, K, Bast, T, Barba, C, Guerrini, R, Giordano, F, Francione, S, Caputo, D, Boshuisen, K, Braun, K P J, Uiterwaal, C S P M, van Nieuwenhuizen, O, Leijten, F S, van Rijen, P C, Seeck, M, Yalnizoglu, D, Turanli, G, Topcu, M, Özkara, C, Uzan, M, Cross, J H, DʼArgenzio, L, and Harkness, W

Published
2018
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3. Effect of Fenfluramine on Generalized Tonic–Clonic Seizures in Rare Epilepsy Syndromes: A Review of Published Studies.

Author

Cross, J. H., Devinsky, O., Gil-Nagel, A., Ceulemans, B., Lagae, L., Schoonjans, A.-S., Ryvlin, P., Nabbout, R., Haas, S., Lothe, A., and Polega, S.

Subjects
*EPILEPSY, *SEIZURES (Medicine), *FENFLURAMINE, *SYNDROMES, *PEOPLE with epilepsy, *SUDDEN death
Abstract

This article, published in Neuropediatrics, reviews the effectiveness of fenfluramine (FFA) in treating generalized tonic-clonic seizures (GTCS) or tonic-clonic seizures (TCS) in patients with rare epilepsy syndromes. The study included data from 13 studies, including randomized-controlled trials, observational studies, open-label studies, and a case series. The results showed that FFA led to a clinically significant reduction in GTCS or TCS frequency in patients with rare epilepsy syndromes. However, further research is needed to determine the impact of FFA on sudden unexpected death in epilepsy (SUDEP) in these patient populations. [Extracted from the article]

Published
2023
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15. Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation

Author

Barba, C., Cross, J. H., Braun, K., Cossu, M., Klotz, K. A., De Masi, S., Perez Jimenez, M. A., Gaily, E., Specchio, N., Cabral, P., Toulouse, J., Dimova, P., Battaglia, D., Freri, E., Consales, A., Cesaroni, E., Tarta-Arsene, O., Gil-Nagel, A., Mindruta, I., Di Gennaro, G., Giulioni, M., Tisdall, M. M., Eltze, C., Tahir, M. Z., Jansen, F., van Rijen, P., Sanders, M., Tassi, L., Francione, S., Lo Russo, G., Jacobs, J., Bast, T., Matta, G., Budke, M., Fournier del Castillo, C., Metsahonkala, E. -L., Karppinen, A., Ferreira, J. C., Minkin, K., Marras, C. E., Lucenteforte, E, Arzimanoglou, A., and Guerrini, R.

Subjects
0301 basic medicine, Male, medicine.medical_specialty, Multivariate analysis, Adolescent, Neurosurgery, Stereoelectroencephalography, Neurosurgical Procedures, 03 medical and health sciences, Epilepsy, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, children, Seizures, Medicine, Humans, survey, Epilepsy surgery, Preschool, Child, Retrospective Studies, medicine.diagnostic_test, business.industry, Age Factors, Magnetic resonance imaging, Retrospective cohort study, Electroencephalography, medicine.disease, Magnetic Resonance Imaging, Temporal Lobe, 3. Good health, Surgery, Europe, epilepsy surgery, histopathology, outcome, Child, Preschool, Female, Treatment Outcome, 030104 developmental biology, Neurology, Histopathology, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

OBJECTIVE: To profile European trends in pediatric epilepsy surgery (

Published
2019

16. Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation

Author

Barba, Maria Cristina, Cross, J. H., Braun, K., Cossu, M., Klotz, K. A., De Masi, S., Perez Jimenez, M. A., Gaily, E., Specchio, N., Cabral, P., Toulouse, J., Dimova, P., Battaglia, Domenica Immacolata, Freri, E., Consales, A., Cesaroni, E., Tarta-Arsene, O., Gil-Nagel, A., Mindruta, I., Di Gennaro, G., Giulioni, M., Tisdall, M. M., Eltze, C., Tahir, M. Z., Jansen, F., van Rijen, P., Sanders, M., Tassi, L., Francione, S., Lo Russo, G., Jacobs, J., Bast, T., Matta, G., Budke, M., Fournier del Castillo, C., Metsahonkala, E. -L., Karppinen, A., Ferreira, J. C., Minkin, K., Marras, C. E., Arzimanoglou, A., Guerrini, R., Barba C., Battaglia D. (ORCID:0000-0003-0491-4021), Barba, Maria Cristina, Cross, J. H., Braun, K., Cossu, M., Klotz, K. A., De Masi, S., Perez Jimenez, M. A., Gaily, E., Specchio, N., Cabral, P., Toulouse, J., Dimova, P., Battaglia, Domenica Immacolata, Freri, E., Consales, A., Cesaroni, E., Tarta-Arsene, O., Gil-Nagel, A., Mindruta, I., Di Gennaro, G., Giulioni, M., Tisdall, M. M., Eltze, C., Tahir, M. Z., Jansen, F., van Rijen, P., Sanders, M., Tassi, L., Francione, S., Lo Russo, G., Jacobs, J., Bast, T., Matta, G., Budke, M., Fournier del Castillo, C., Metsahonkala, E. -L., Karppinen, A., Ferreira, J. C., Minkin, K., Marras, C. E., Arzimanoglou, A., Guerrini, R., Barba C., and Battaglia D. (ORCID:0000-0003-0491-4021)

Abstract

Objective: To profile European trends in pediatric epilepsy surgery (<16 years of age) between 2008 and 2015. Methods: We collected information on volumes and types of surgery, pathology, and seizure outcome from 20 recognized epilepsy surgery reference centers in 10 European countries. Results: We analyzed retrospective aggregate data on 1859 operations. The proportion of surgeries significantly increased over time (P <.0001). Engel class I outcome was achieved in 69.3% of children, with no significant improvement between 2008 and 2015. The proportion of histopathological findings consistent with glial scars significantly increased between the ages of 7 and 16 years (P for trend =.0033), whereas that of the remaining pathologies did not vary across ages. A significant increase in unilobar extratemporal surgeries (P for trend =.0047) and a significant decrease in unilobar temporal surgeries (P for trend =.0030) were observed between 2008 and 2015. Conversely, the proportion of multilobar surgeries and unrevealing magnetic resonance imaging cases remained unchanged. Invasive investigations significantly increased, especially stereo-electroencephalography. We found different trends comparing centers starting their activity in the 1990s to those whose programs were developed in the past decade. Multivariate analysis revealed a significant variability of the proportion of the different pathologies and surgical approaches across countries, centers, and age groups between 2008 and 2015. Significance: Between 2008 and 2015, we observed a significant increase in the volume of pediatric epilepsy surgeries, stability in the proportion of Engel class I outcomes, and a modest increment in complexity of the procedures.

Published
2020

17. Epilepsies post cerebral infections

Author

Arzimanoglou, A, Cross, J H, Gaillard, W D, Holthausen, H, Jayakar, P, Kahane, P, Mathern, G, Arzimanoglou, A ( A ), Cross, J H ( J H ), Gaillard, W D ( W D ), Holthausen, H ( H ), Jayakar, P ( P ), Kahane, P ( P ), Mathern, G ( G ), Ramantani, G, Arzimanoglou, A, Cross, J H, Gaillard, W D, Holthausen, H, Jayakar, P, Kahane, P, Mathern, G, Arzimanoglou, A ( A ), Cross, J H ( J H ), Gaillard, W D ( W D ), Holthausen, H ( H ), Jayakar, P ( P ), Kahane, P ( P ), Mathern, G ( G ), and Ramantani, G

Published
2017

18. Individualized prediction of seizure relapse and outcomes following antiepileptic drug withdrawal after pediatric epilepsy surgery

Author

Diagnostiek & Vroege Psychose Medisch, In Vivo NMR ISI, ZL Kinder Ner en Nec Medisch, Brain, Opleiding Neurologie, Cardiovasculaire Epi Team 4, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Zorglijn FNE Medisch, Lamberink, Herm J., Boshuisen, Kim, Otte, Willem M., Geleijns, Karin, Braun, K. P.J., Feucht, M., Gröppel, G., Kahane, P., Minotti, L., Arzimanoglou, A., Ryvlin, P., Panagiotakaki, E., de Bellescize, J., Ostrowsky-Coste, K., Hirsch, E., Valenti, M., Polster, T., Sassen, R., Hoppe, C., Kuczaty, S., Elger, C., Schubert, S., Strobl, K., Bast, T., Barba, C., Guerrini, R., Giordano, F., Francione, S., Caputo, D., Boshuisen, K., Uiterwaal, C. S.P.M., van Nieuwenhuizen, O., Leijten, F. S., van Rijen, P. C., Seeck, M., Yalnizoglu, D., Turanli, G., Topcu, M., Özkara, C., Uzan, M., Cross, J. H., D'Argenzio, L., Harkness, W., the TimeToStop Study Group, Diagnostiek & Vroege Psychose Medisch, In Vivo NMR ISI, ZL Kinder Ner en Nec Medisch, Brain, Opleiding Neurologie, Cardiovasculaire Epi Team 4, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Zorglijn FNE Medisch, Lamberink, Herm J., Boshuisen, Kim, Otte, Willem M., Geleijns, Karin, Braun, K. P.J., Feucht, M., Gröppel, G., Kahane, P., Minotti, L., Arzimanoglou, A., Ryvlin, P., Panagiotakaki, E., de Bellescize, J., Ostrowsky-Coste, K., Hirsch, E., Valenti, M., Polster, T., Sassen, R., Hoppe, C., Kuczaty, S., Elger, C., Schubert, S., Strobl, K., Bast, T., Barba, C., Guerrini, R., Giordano, F., Francione, S., Caputo, D., Boshuisen, K., Uiterwaal, C. S.P.M., van Nieuwenhuizen, O., Leijten, F. S., van Rijen, P. C., Seeck, M., Yalnizoglu, D., Turanli, G., Topcu, M., Özkara, C., Uzan, M., Cross, J. H., D'Argenzio, L., Harkness, W., and the TimeToStop Study Group

Published
2018

19. Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: A European consensus statement

Author

Bien, C. G., Granata, T., Antozzi, C., Cross, J. H., Dulac, O., Kurthen, M., Lassmann, H., Mantegazza, R., Villemure, J.-G, Spreafico, R., Elger, C. E., Bien, C. G., Granata, T., Antozzi, C., Cross, J. H., Dulac, O., Kurthen, M., Lassmann, H., Mantegazza, R., Villemure, J.-G, Spreafico, R., and Elger, C. E.

Abstract

Rasmussen encephalitis (RE) is a rare but severe immune-mediated brain disorder leading to unilateral hemispheric atrophy, associated progressive neurological dysfunction and intractable seizures. Recent data on the pathogenesis of the disease, its clinical and paraclinical presentation, and therapeutic approaches are summarized. Based on these data, we propose formal diagnostic criteria and a therapeutic pathway for the management of RE patients

Published
2017

20. TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features

Author

Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Balestrini, S.; Milh, M.; Castiglioni, C.; Luthy, K.; Finelli, M. J.; Verstreken, P.; Cardon, A.; Strazisar, B. G.; Holder, J. L.; Lesca, G.; Mancardi, M. M.; Poulat, A. L.; Repetto, G. M.; Banka, S.; Bilo, L.; Birkeland, L. E.; Bosch, F.; Brockmann, K.; Cross, J. H.; Doummar, D.; Felix, T. M.; Giuliano, F.; Hori, M.; Huning, I.; Kayserili, H.; Kini, U.; Lees, M. M.; Meenakshi, G.; Mewasingh, L.; Pagnamenta, A. T.; Peluso, S.; Mey, A.; Rice, G. M.; Rosenfeld, J. A.; Taylor, J. C.; Troester, M. M.; Stanley, C. M.; Ville, D.; Walkiewicz, M.; Falace, A.; Fassio, A.; Lemke, J. R.; Biskup, S.; Tardif, J.; Ajeawung, N. F.; Tolun, A.; Corbett, M.; Gecz, J.; Afawi, Z.; Howell, K. B.; Oliver, K. L.; Berkovic, S. F.; Scheffer, I. E.; de Falco, F. A.; Oliver, P. L.; Striano, P.; Zara, F.; Campeau, P. M.; Sisodiya, S. M., School of Medicine, Department of Medical Genetics, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Balestrini, S.; Milh, M.; Castiglioni, C.; Luthy, K.; Finelli, M. J.; Verstreken, P.; Cardon, A.; Strazisar, B. G.; Holder, J. L.; Lesca, G.; Mancardi, M. M.; Poulat, A. L.; Repetto, G. M.; Banka, S.; Bilo, L.; Birkeland, L. E.; Bosch, F.; Brockmann, K.; Cross, J. H.; Doummar, D.; Felix, T. M.; Giuliano, F.; Hori, M.; Huning, I.; Kayserili, H.; Kini, U.; Lees, M. M.; Meenakshi, G.; Mewasingh, L.; Pagnamenta, A. T.; Peluso, S.; Mey, A.; Rice, G. M.; Rosenfeld, J. A.; Taylor, J. C.; Troester, M. M.; Stanley, C. M.; Ville, D.; Walkiewicz, M.; Falace, A.; Fassio, A.; Lemke, J. R.; Biskup, S.; Tardif, J.; Ajeawung, N. F.; Tolun, A.; Corbett, M.; Gecz, J.; Afawi, Z.; Howell, K. B.; Oliver, K. L.; Berkovic, S. F.; Scheffer, I. E.; de Falco, F. A.; Oliver, P. L.; Striano, P.; Zara, F.; Campeau, P. M.; Sisodiya, S. M., School of Medicine, and Department of Medical Genetics

Abstract

Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24. Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). Results: Forty-eight patients were included (28 men, 20 women, average age 21 years) from 30 independent families. Eighteen patients (38%) had myoclonic epilepsies. The other patients carried diagnoses of focal (25%), multifocal (2%), generalized (4%), and unclassified epilepsy (6%), and early-onset epileptic encephalopathy (25%). Most patients had drug-resistant epilepsy. We detail EEG, neuroimaging, developmental, and cognitive features, treatment responsiveness, and physical examination. In silico evaluation revealed 7 different highly conserved motifs, with the most common pathogenic mutation located in the first. Neuronal outgrowth assays showed that some TBC1D24 mutations, associated with the most severe TBC1D24-associated disorders, are not necessarily the most disruptive to this gene function. Conclusions: TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death. There is no distinct correlation with mutation type or location yet, but patterns are emerging. Given the phenotypic breadth observed, TBC1D24 mutation screening is indicated in a wide variety of epilepsies. A TBC1D24 consortium was formed to develop further research on this gene and its associated phenotypes., NIHR Biomedical Research Centres; Polytechnic University of Marche, Italy; Wellcome Trust; BAEF fellowship; NHMRC; Department of Health's National Institute for Health Research Biomedical Research Centres funding scheme; Gustave Nossal NHMRC postgraduate scholarship; Clifford PhD scholarship; Fondation CHU Sainte-Justine; Canadian Institutes of Health Research (CIHR); Fonds de Recherche Sante Quebec; European Research Council under the European Union; National Institute for Health Research

Published
2016

21. Definition and diagnostic criteria of sleep-related hypermotor epilepsy.

Author

Tinuper, Paolo, Bisulli, Francesca, Cross, J. H., Hesdorffer, Dale, Kahane, Philippe, Nobili, Lino, Provini, Federica, Tassi, Laura, Vignatelli, Luca, Cirignotta, Fabio, Derry, Christopher, Gambardella, Antonio, Guerrini, Renzo, Halasz, Peter, Licchetta, Laura, Mahowald, Mark, Manni, Raffaele, Marini, Carla, Mostacci, Barbara, and Naldi, Ilaria

Published
2016
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22. Epilepsies post cerebral infections

Author

Holthausen, H, Ramantani, G, University of Zurich, Arzimanoglou, A, Cross, J H, Gaillard, W D, Holthausen, H, Jayakar, P, Kahane, P, and Mathern, G

Subjects
10036 Medical Clinic, 610 Medicine & health
Published
2017
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23. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

Author

Simona Pellacani, Pasquale Striano, Christian Mühe, Kurt Schlachter, Tobias Loddenkemper, Christine Makowski, Peter Borusiak, Antonietta Coppola, Marina Nikanorova, Joost Nicolai, Reinhard Keimer, Biayna G. Sukhudyan, Helle Hjalgrim, Sunny Philip, András Fogarasi, Thomas Bast, Susanne Ruf, Michaela Linder-Lucht, Irene Graneß, Gerhard Kluger, Tanja Weisbrod, Steffen Leiz, Christian Korff, Iván Sánchez Fernández, J Lotte, Gerhard Kurlemann, J. Helen Cross, Bernd Wilken, Deyana Valcheva, R. Jeroen Vermeulen, Renzo Guerrini, Petia Dimova, Philipp Wolf, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: FHML non-thematic output, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Lotte, J., Bast, T., Borusiak, P., Coppola, A., Cross, J. H., Dimova, P., Fogarasi, A., Graneß, I., Guerrini, R., Hjalgrim, H., Keimer, R., Korff, C. M., Kurlemann, G., Leiz, S., Linder-Lucht, M., Loddenkemper, T., Makowski, C., Mühe, C., Nicolai, J., Nikanorova, M., Pellacani, S., Philip, S., Ruf, S., Sánchez Fernández, I., Schlachter, K., Striano, P., Sukhudyan, B., Valcheva, D., Vermeulen, R. J., Weisbrod, T., Wilken, B., Wolf, P., and Kluger, G.

Subjects
0301 basic medicine, Pediatrics, Clobazam, Epilepsy, 0302 clinical medicine, Surveys and Questionnaires, Young adult, Child, media_common, Age Factors, General Medicine, Cadherins, Treatment Outcome, Neurology, Child, Preschool, Anticonvulsants, Female, medicine.drug, Adult, Drug, medicine.medical_specialty, Adolescent, media_common.quotation_subject, Antiepileptic drugs, Clinical Neurology, Long-term effectiveness, Young Adult, 03 medical and health sciences, medicine, Humans, In patient, Retrospective Studies, business.industry, Retrospective cohort study, PCDH19 mutation, Treatment, Neurology (clinical), medicine.disease, Red Cross, Protocadherins, 030104 developmental biology, Multicenter study, Pharmacogenetics, Mutation, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

Purpose PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Methods We report a retrospective multicenter study of antiepileptic therapy in 58 female patients with PCDH19 mutations and epilepsy aged 2–27 years (mean age 10.6 years). Results The most effective drugs after 3 months were clobazam and bromide, with a responder rate of 68% and 67%, respectively, where response was defined as seizure reduction of at least 50%. Defining long-term response as the proportion of responders after 12 months of treatment with a given drug in relation to the number of patients treated for at least 3 months, the most effective drugs after 12 months were again bromide and clobazam, with a long-term response of 50% and 43%, respectively. Seventy-four percent of the patients became seizure-free for at least 3 months, 47% for at least one year. Significance The most effective drugs in patients with PCDH19 mutations were bromide and clobazam. Although epilepsy in PCDH19 mutations is often pharmacoresistant, three quarters of the patients became seizure-free for at least for 3 months and half of them for at least one year. However, assessing the effectiveness of the drugs is difficult because a possible age-dependent spontaneous seizure remission must be considered.

Published
2016

24. Mental health in secondary school-aged children with epilepsy and their primary caregivers: A case control study.

Author

Idowu J, Meades C, Cross JH, Muggeridge A, Lakhanpaul M, Robinson K, Sherar LB, Pearson N, and Reilly C

Subjects
Humans, Female, Male, Child, Adolescent, Case-Control Studies, Mental Health, Depression epidemiology, Depression etiology, Anxiety epidemiology, Anxiety etiology, Stress, Psychological epidemiology, Prevalence, Surveys and Questionnaires, Epilepsy epidemiology, Epilepsy psychology, Caregivers psychology
Abstract

Purpose: To describe the prevalence and associated factors of mental health problems in secondary school-aged (11-16 years) children with epilepsy and their primary caregivers compared to a control group without epilepsy., Methods: Children with epilepsy (n = 60), controls (n = 49), and caregivers (n = 60 epilepsy and n = 49 control group) completed a measure of the child's mental health (Strengths and Difficulties Questionnaire; SDQ). Primary caregivers in both groups completed a measure of their own mental health (Depression, Anxiety, and Stress Scale-21; DASS-21). Factors associated with child and caregiver mental health in the epilepsy group were explored using linear regression., Results: There were no significant differences between the epilepsy and control group regarding age, gender, ethnicity and socioeconomic status. A higher proportion of children with epilepsy scored in the at-risk range on the SDQ indicating more mental health problems than the control group, as reported by the children (45% vs. 24 %) (p = 0.026) and caregivers (52% vs. 14 %) (p < 0.001). Primary caregivers of children with epilepsy had more symptoms of depression (p = 0.001), anxiety (p = 0.028) and stress (p = 0.019) than caregivers in the control group. Children with epilepsy with greater motor coordination problems had greater mental health difficulties. Children with epilepsy with more mental health difficulties had caregivers with more difficulties and caregivers of children with earlier onset of seizures had more mental health difficulties., Conclusions: Epilepsy confers a high risk for mental health problems in adolescents and their primary caregivers. There is a need to better understand the relationship between caregiver and child mental health difficulties in epilepsy., Competing Interests: Declaration of competing interest The authors have no relevant conflicts of interest to declare., (Copyright © 2024 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Published
2024
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25. "One size does not fit all" - Barriers to and facilitators of physical activity in adolescents with epilepsy.

Author

Idowu J, Meades C, Cross JH, Muggeridge A, Lakhanpaul M, Robinson K, Sherar LB, Pearson N, and Reilly C

Subjects
Humans, Adolescent, Male, Female, Child, Surveys and Questionnaires, Exercise physiology, Exercise psychology, Caregivers psychology, Motor Activity physiology, Epilepsy psychology
Abstract

Objective: To explore the barriers to physical activity and to identify the support needed to facilitate physical activity in adolescents with epilepsy (AWE)., Methods: AWE (aged 11-16 years) and their caregivers completed survey-based open questions regarding perceived barriers to, and facilitators of physical activity in young people with epilepsy. The responses were analysed using Thematic Analysis., Results: Themes concerning barriers to physical activity included concerns about seizure safety, general anxiety and anxiety related to seizures, stigma/negative attitudes associated with having epilepsy, tiredness, and perceived lack of physical competence. Themes regarding the support needed to facilitate physical activity included better education amongst staff/coaches about epilepsy (e.g., seizure management/prevention, associated fatigue/tiredness), improvements in societal attitudes towards epilepsy, flexibility/tailoring of activities to the child's needs (e.g., need for breaks), and peer support for young people with epilepsy to encourage engagement in physical activity., Conclusions: There is a perception among AWE and caregivers, that significant barriers exist with regard to engaging in physical activity for young people with epilepsy. Barriers are related to concerns about seizure management but also wider safety and social issues. A number of facilitators were identified to promote physical activity engagement in AWE, including education for staff and caregivers, peer support, and tailoring activities to the adolescent's needs. There is a need to develop interventions to reduce barriers to physical activity in young people with epilepsy., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Published
2024
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26. Epileptogenic Tubers Are Associated with Increased Kurtosis of Susceptibility Values: A Combined Quantitative Susceptibility Mapping and Stereoelectroencephalography Pilot Study.

Author

Chari A, Sedlacik J, Seunarine K, Piper RJ, Hales P, Shmueli K, Mankad K, Löbel U, Eltze C, Moeller F, Scott RC, Tisdall MM, Cross JH, and Carmichael DW

Subjects
Humans, Pilot Projects, Magnetic Resonance Imaging, Electroencephalography, Tuberous Sclerosis complications, Tuberous Sclerosis diagnostic imaging
Abstract

Background and Purpose: Prior studies have found an association between calcification and the epileptogenicity of tubers in tuberous sclerosis complex. Quantitative susceptibility mapping is a novel tool sensitive to magnetic susceptibility alterations due to tissue calcification. We assessed the utility of quantitative susceptibility mapping in identifying putative epileptogenic tubers in tuberous sclerosis complex using stereoelectroencephalography data as ground truth., Materials and Methods: We studied patients with tuberous sclerosis complex undergoing stereoelectroencephalography at a single center who had multiecho gradient-echo sequences available. Quantitative susceptibility mapping and R2* values were extracted for all tubers on the basis of manually drawn 3D ROIs using T1- and T2-FLAIR sequences. Characteristics of quantitative susceptibility mapping and R2* distributions from implanted tubers were compared using binary logistic generalized estimating equation models designed to identify ictal (involved in seizure onset) and interictal (persistent interictal epileptiform activity) tubers. These models were then applied to the unimplanted tubers to identify potential ictal and interictal tubers that were not sampled by stereoelectroencephalography., Results: A total of 146 tubers were identified in 10 patients, 76 of which were sampled using stereoelectroencephalography. Increased kurtosis of the tuber quantitative susceptibility mapping values was associated with epileptogenicity ( P  = .04 for the ictal group and P  = .005 for the interictal group) by the generalized estimating equation model. Both groups had poor sensitivity (35.0% and 44.1%, respectively) but high specificity (94.6% and 78.6%, respectively)., Conclusions: Our finding of increased kurtosis of quantitative susceptibility mapping values (heavy-tailed distribution) was highly specific, suggesting that it may be a useful biomarker to identify putative epileptogenic tubers in tuberous sclerosis complex. This finding motivates the investigation of underlying tuber mineralization and other properties driving kurtosis changes in quantitative susceptibility mapping values., (© 2023 by American Journal of Neuroradiology.)

Published
2023
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27. The impact of COVID-19 on epilepsy care: Perspectives from UK healthcare workers.

Author

Thorpe J, Ashby S, Cross JH, Sander JW, Newton C, Hanna J, and Sen A

Abstract

The COVID-19 pandemic has created an immense pressure on healthcare providers, resulting in a shift to remote consultations and the redeployment of healthcare workers (HCWs). We present survey data from the United Kingdom (UK) HCWs to outline how changes in healthcare provision impact clinicians' wellbeing and ability to provide adequate care. We designed an online survey to gather the experiences of HCWs providing care to people with epilepsy. We received seventy-nine responses from UK-based HCWs, of whom 43% reported an impact on their mental health. Changes to service delivery have resulted in 71% of clinicians performing > 75% of their consultations remotely. Diagnosing and treating epilepsy has changed, with a fifth of respondents being significantly less confident in diagnosing epilepsy. Ultimately, these results show that COVID-19 has had an overall negative impact on HCWs and their ability to provide epilepsy care. These results must be considered when reorganizing health services to ensure optimal outcomes for people with epilepsy., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2021 Published by Elsevier Inc.)

Published
2021
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