A quantitative cross-sectional study of the burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy in Japan DOI Creative Commons
Michael LoPresti, Ataru Igarashi, Yaoki Sonohara

et al.

Epilepsy & Behavior, Journal Year: 2024, Volume and Issue: 154, P. 109741 - 109741

Published: March 30, 2024

IntroductionLennox-Gastaut syndrome (LGS), Dravet (DS), and tuberous sclerosis complex (TSC)-associated epilepsy are rare conditions associated with severe childhood-onset epilepsy. Caregivers play a critical role in the patients' care may experience significant psychosocial socioeconomic burden. This cross-sectional study determined burden of caring for patients these Japan.MethodsA quantitative online survey was used to assess caregivers' characteristics emotional state, among others. Several validated questionnaires were used: Hospital Anxiety Depression Scale (HADS; 0–21 score) assessed wellbeing, Pediatric Quality Life Inventory Family Impact Module (PedsQL FIM; 0–100 health-related quality life (HRQoL) caregivers their families, Work Productivity Activity Impairment General Health (WPAI:GH; % questionnaire work productivity.ResultsA total 36 responded (median [interquartile range (IQR)] age 43.5 [39.5, 48.3] years; 33/36 [92 %] female; 13/36 [36 working part-time not working). Participants cared 7/36 (19 %), 19/36 (53 10/36 (28 %) LGS, DS, TSC, respectively [IQR] age, 11.0 [6.8, 16.3] at first seizure, 0 [0, 0] years). Patients received median (IQR) 4 (3, 5) treatment drug types. experienced 3.0 (0, 21.0) epileptic seizures previous week; 28/36 (78 had intellectual disabilities, 34/36 (94 developmental delays. reported stress (17/36 [47 %]), sleep problems (13/36 anxiety (12/36 [33 %]). They spent 50.0 (17.5, 70.0) hours caregiving week, (1.0, 11.0) seizure-specific care. that lives would be easier 1.5 5.0) fewer per week during/following seizures. Median HADS scores 9.5 ('suspected diagnosis') 7.5 ('no depression') caregivers, PedsQL FIM Total score 60.1, indicating HRQoL impairment caregiver family. WPAI:GH paid workers indicated important impairment. Higher (≥ 21 h vs. < week) resulted higher as by (p = 0.0062) 0.0007).ConclusionsCaregivers or TSC Japan time burden, reduced HRQoL, high level work/activity provide round-the-clock rely on family specialized services help manage increased time, which tends greater impact.

Language: Английский

Pathophysiology to Risk Factor and Therapeutics to Treatment Strategies on Epilepsy DOI Creative Commons
Ana Paula de Araújo Boleti, Pedro Henrique de Oliveira Cardoso, Breno Emanuel Farias Frihling

et al.

Brain Sciences, Journal Year: 2024, Volume and Issue: 14(1), P. 71 - 71

Published: Jan. 10, 2024

Epilepsy represents a condition in which abnormal neuronal discharges or the hyperexcitability of neurons occur with synchronicity, presenting significant public health challenge. Prognostic factors, such as etiology, electroencephalogram (EEG) abnormalities, type and number seizures before treatment, well initial unsatisfactory effects medications, are important considerations. Although there several third-generation antiepileptic drugs currently available, their multiple side can negatively affect patient quality life. The inheritance etiology epilepsy complex, involving underlying genetic epigenetic mechanisms. Different neurotransmitters play crucial roles maintaining normal physiology different neurons. Dysregulations neurotransmission, due to transmitter levels changes receptors, result seizures. In this review, we address played by various receptors pathophysiology epilepsy. Furthermore, extensively explore neurological mechanisms involved development progression epilepsy, along its risk factors. highlight new therapeutic targets, pharmacological non-pharmacological strategies employed treatment epileptic syndromes, including drug interventions clinical trials related

Language: Английский

Citations

17

Antiseizure medications for Lennox-Gastaut Syndrome: Comprehensive review and proposed consensus treatment algorithm DOI
Debopam Samanta, Sonam Bhalla, Sonal Bhatia

et al.

Epilepsy & Behavior, Journal Year: 2025, Volume and Issue: 164, P. 110261 - 110261

Published: Jan. 23, 2025

Language: Английский

Citations

2

Cognitive and behavioral impact of antiseizure medications, neuromodulation, ketogenic diet, and surgery in lennox-gastaut syndrome: A comprehensive review DOI
Debopam Samanta

Epilepsy & Behavior, Journal Year: 2025, Volume and Issue: 164, P. 110272 - 110272

Published: Jan. 23, 2025

Language: Английский

Citations

2

Understanding Lamotrigine’s Role in the CNS and Possible Future Evolution DOI Open Access
Bárbara Costa, Nuno Vale

International Journal of Molecular Sciences, Journal Year: 2023, Volume and Issue: 24(7), P. 6050 - 6050

Published: March 23, 2023

The anti-epileptic drug lamotrigine (LTG) has been widely used to treat various neurological disorders, including epilepsy and bipolar disorder. However, its precise mechanism of action in the central nervous system (CNS) still needs be determined. Recent studies have highlighted involvement LTG modulating activity voltage-gated ion channels, particularly those related inhibition neuronal excitability. Additionally, found neuroprotective effects, potentially through glutamate release enhancement GABAergic neurotransmission. LTG's unique compared other drugs led investigation use treating CNS such as neuropathic pain, PTSD, major depressive Furthermore, combined with mood stabilizers, which may enhance therapeutic effects. In conclusion, potential modulate multiple neurotransmitters channels makes it a promising for disorders. As our understanding continues evolve, new indications will also explored.

Language: Английский

Citations

33

The burden of illness in Lennox–Gastaut syndrome: a systematic literature review DOI Creative Commons
Adam Strzelczyk, Sameer M. Zuberi, Pasquale Striano

et al.

Orphanet Journal of Rare Diseases, Journal Year: 2023, Volume and Issue: 18(1)

Published: March 1, 2023

Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by drug-resistant epilepsy with multiple seizure types starting in childhood, typical slow spike-wave pattern on electroencephalogram, cognitive dysfunction.We performed systematic literature review according to the PRISMA guidelines identify, synthesize appraise burden of illness LGS (including "probable" LGS). Studies were identified searching MEDLINE, Embase APA PsychInfo, Cochrane's database reviews, Epistemonikos. The outcomes epidemiology (incidence, prevalence or mortality), direct indirect costs, healthcare resource utilization, patient caregiver health-related quality life (HRQoL).The search 22 publications evaluating (n = 10), costs 10) and/or HRQoL 5). No studies reporting identified. With no specific ICD code for many regions, several had rely upon methods identify their populations (e.g., algorithms insurance claims databases There was heterogeneity between how defined, size populations, ages patients length follow-up period. varied from 4.2 60.8 per 100,000 people across probable 2.9-28 confirmed/narrow definition LGS. associated high mortality rates compared general population population. Healthcare utilization substantial all studies. Mean annual person $24,048 $80,545 studies, home-based care inpatient significant cost drivers. showed that caregivers adversely affected, although only few In addition, suggested events higher worse HRQoL. risk bias low moderate most studies.LGS featuring resistant seizures More research needed, especially burden, where there notable lack

Language: Английский

Citations

32

Dravet syndrome: A systematic literature review of the illness burden DOI Creative Commons
Adam Strzelczyk, Lieven Lagae, Jo M. Wilmshurst

et al.

Epilepsia Open, Journal Year: 2023, Volume and Issue: 8(4), P. 1256 - 1270

Published: Sept. 26, 2023

Abstract We performed a systematic literature review and narrative synthesis according to pre‐registered protocol (Prospero: CRD42022376561) identify the evidence associated with burden of illness in Dravet syndrome (DS), developmental epileptic encephalopathy characterized by drug‐resistant epilepsy neurocognitive neurobehavioral impairment. searched MEDLINE, Embase, APA PsychInfo, Cochrane's database reviews, Epistemonikos from inception June 2022. Non‐interventional studies reporting on epidemiology (incidence, prevalence, mortality), patient caregiver health‐related quality life (HRQoL), direct indirect costs healthcare resource utilization were eligible. Two reviewers independently carried out screening. Pre‐specified data extracted was conducted. Overall, 49 met inclusion criteria. The incidence varied 1:15 400–1:40 900, prevalence 1.5 per 100 000 6.5 000. Mortality reported 3.7%–20.8% DS patients, most commonly due sudden unexpected death status epilepticus. Patient HRQoL, assessed caregivers, lower than non‐DS patients; mean scores (0 [worst] 100/1 [best]) 62.1 for Kiddy KINDL/Kid‐KINDL, 46.5–54.7 PedsQL 0.42 EQ‐5D‐5L. Caregivers, especially mothers, severely affected, impacts their time, energy, sleep, career, finances, while siblings also affected. Symptoms depression 47%–70% caregivers. Mean total high across all studies, ranging $11 048 $77 914 year (PPPY), inpatient admissions being key cost driver studies. related lost productivity only three publications, approximately $19 $20 PPPY ($17 596 mothers vs $1564 fathers). High seizure higher utilization, poorer HRQoL. system, society is profound, reflecting severe nature syndrome. Future will be able assess impact that newly approved therapies have reducing DS.

Language: Английский

Citations

31

Cognitive Impairment in the Elderly: A systematic review of the literature DOI Creative Commons
Nubia Hernández-Flórez, Elisama Beltrán de la Rosa, Olena Klimenko

et al.

Salud Ciencia y Tecnología, Journal Year: 2024, Volume and Issue: 4, P. 799 - 799

Published: Feb. 14, 2024

This article focuses on the study of cognitive impairment in elderly. The general objective analysis three variables present selected articles which are and quality life, explores perceptions associated with well-being satisfaction older adults, understanding dynamics personal achievement, social relationships, autonomy, life that impact conditions integral health within context well-being. A second variable mood alterations comorbid pathologies, where it was identified depression anxiety pathologies cause emotional adults interfere development symptoms pathological comorbidities, third is lifestyle neurocognition includes protective elements physical activity, nutrition socialization processes promote active healthy aging. methodology quantitative design a bibliometric approach under systematic literature review. Taking into account, prism responds to Boolean equations were used perform categorization documents using variables. Finally, concluded need make behavioral changes elderly through differentiated evaluation for each patient, thus minimizing effects social, family, economic, affective, spheres

Language: Английский

Citations

15

Erster epileptischer Anfall und Epilepsien im Erwachsenenalter DOI Creative Commons
Martin Holtkamp, Theodor W. May,

Ralf Berkenfeld

et al.

Deleted Journal, Journal Year: 2024, Volume and Issue: 37(2), P. 118 - 139

Published: March 11, 2024

Zusammenfassung In der neuen S2k-Leitlinie „Erster epileptischer Anfall und Epilepsien im Erwachsenenalter“ werden Empfehlungen zu klinisch relevanten Fragestellungen in fünf großen Themenblöcken gegeben: Management erster Anfall, Pharmakotherapie, Epilepsiechirurgie, komplementäre supportive Therapieverfahren psychosoziale Aspekte. Beim Thema Leitlinie zunächst zur Unterscheidung beiden maßgeblichen Differenzialdiagnosen, Synkope psychogener nicht-epileptischer gegeben. Zudem wird Stellenwert von Zusatzuntersuchungen wie EEG, MRT Liquor inklusive Autoantikörpern syndromalen ätiologischen Zuordnung diskutiert. Weiterhin neuropsychologischen psychiatrischen Screeningtests ausgesprochen. Bei Pharmakotherapie liegt Schwerpunkt auf anfallssuppressiven Monotherapie bei fokalen, genetischen generalisierten unklassifizierten Epilepsien; Patientengruppen mit besonderen Herausforderungen Ältere, Frauen gebärfähigen Alter Menschen Intelligenzminderung hervorgehoben. Weitere Themen sind die Indikationen Bestimmung Serumkonzentration Anfallssuppressiva möglichen Risiken eines Herstellerwechsels. dem Themenblock Epilepsiechirurgie prächirurgischen Diagnostik den vielfältigen Resektion, Laserablation Neurostimulation dargestellt. Einen nehmen postoperativen Versorgung Patient:innen Rehabilitation psychosozialer Beratung ein. Therapie häufig begleitenden Angststörungen, Depressionen Psychosen Ein weiterer ist Behandlung psychogenen nicht-epileptischen Anfällen als neuropsychiatrische Differenzialdiagnose oder Begleiterkrankung epileptischen Anfällen. zum ketogenen Diät sowie Akupunktur, Homöopathie weiteren komplementären Behandlungsansätzen Die psychosozialen Aspekten umfassen alltagsrelevante Kraftfahreignung, Ausbildung Beruf, medizinische Rehabilitation, Sport, Transition, Selbsthilfe, Schulungen Angehörigen, Adhärenz, Aufklärung SUDEP (Sudden Unexpected Death Epilepsy).

Citations

11

A multicenter cohort study on the efficacy, retention, and tolerability of cenobamate in patients with developmental and epileptic encephalopathies DOI Creative Commons

Elisa Buhleier,

Susanne Schubert‐Bast, Susanne Knake

et al.

Epilepsia, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 11, 2025

This study was undertaken to evaluate retention and treatment characteristics of cenobamate (CNB) in patients with developmental epileptic encephalopathies (DEEs) clinical practice. multicenter, retrospective cohort recruited all DEEs who started CNB between October 2020 April 2023 at participating epilepsy centers. A total 41 (mean age = 28.3 ± 13.1 years, median 26 range 4-73 years; 24 male [58.5%]) were treated CNB. Of these, 33 had Lennox-Gastaut syndrome, seven tuberous sclerosis complex, one Dravet syndrome. The number antiseizure medications (ASMs) enrollment three, a eight failed ASMs the past. rate for 94.9% 3 months, 82.9% 6 72.4% 12 months follow-up. Cumulative exposure 477 (39.2 years). Efficacy (50% responder rate) 39% including 7.3% seizure-free patients. Long-term, 50% 34.5% (seizure-free [10.3%]). There no difference response regarding sex, (adult vs. children), previous concomitant ASMs, or first target dose Treatment-emergent adverse events predominantly sedation dizziness observed 58.5% Children adolescents showed comparable efficacy, retention, tolerability compared adults. findings from this open-label, suggest that may be effective some DEEs. Its overall use seems safe well tolerated. We similar response, event profiles children

Language: Английский

Citations

1

Neurophysiological findings in Attention Deficit Hyperactivity Disorder, a Pandora’s box with therapeutic implications DOI Creative Commons
Montserrat Gerez-Malo, Armando Tello,

Maria Jimena Martin-Salas

et al.

Exploration of Neuroprotective Therapy, Journal Year: 2025, Volume and Issue: 5

Published: March 30, 2025

Aim: Growing evidence suggests that Attention Deficit Hyperactivity Disorder (ADHD) may not be a single entity with universal remedy, but rather group of conditions resulting from interactive bio-psycho-social factors and requiring specifically targeted interventions. ADHD research, including neurophysiology, faces inconsistent findings due to heterogeneity. This variety might indicate different physiopathogenic mechanisms. study aimed identify dysfunctional mechanisms behind symptoms test if targeting these dysfunctions can improve clinical outcomes. Methods: 230 children diagnosis studied hypothesis-related variables electroencephalogram (EEG) visual inspection quantitative z-scored power, coherence ratios, event-related brain potentials (ERPs) z-sored P50, N100, N200, P300 latencies amplitudes ratios. Parametric non-parametric classifications were conducted on neurophysiological clusters design neuropsychologically-based recommended treatments (NBRTx). Treatment response evaluated thrgbrough scores comparing NBRTx guidelines treatment (GBRTx). selected by agreement between each child’s physician the parents, both parties thoroughly informed. Results: Six identified, characterized combination EEG/ERP abnormalities hypothetically related distinct Cluster (C) findings, hypothetical dysfunction, recommendations: C1: Longer latencies, hypodopaminergia: methylphenidate. C2: Centrotemporal spiles, hyperexcitable network: carbamazepine. C3: Bisynchronous spike-waves complexes, thalamocortical involvement: valproic. C4: Altered psychosis-related variables: risperidone. C5: migraine-related C6: Abnormal maturational interhemispheric rate: tailored psychotherapy. At 3 months, decreased methylphenidate (MPH) only in C1. In other under had good responses, those GBRTx did not, switched significant improvement at 6 months. Conclusions: responding interventions identified signatures. A personalized medicine approach guided necessary when facing multifactorial, heterogeneous disorders such as ADHD.

Language: Английский

Citations

1