Epilepsie chez les personnes avec déficience intellectuelle

Epilepsy is a common chronic disease affecting preferentially patients with intellectual disabilities. Its clinical presentation is polymorphic. It can manifest as generalized seizures, partial or specific epilepsy syndromes. She puts a positive diagnosis problem and especially differential with other frequent paroxysmal phenomena in this population. The electroencephalogram is essential to confirm epilepsy, specify its type, but also to analyze brain maturation. It also sometimes has a specific aspect in certain genetic syndromes, which can target requests genetic testing. Epilepsy can be with disability result from the same cause, as it may be the cause of the impairment. The management should be holistic therapeutic, social and psychological. Respect for medical prescription and healthy lifestyle guidelines must be rigorous, under penalty of having an increase of seizures or occurrence of side effects.L’épilepsie est une maladie chronique fréquente affectant de façon préférentielle les patients ayant une déficience intellectuelle. Sa présentation clinique est polymorphe. Elle peut se manifester sous forme de crises généralisées, partielles ou des syndromes épileptiques spécifiques. Elle pose un problème de diagnostic positif et surtout différentiel avec les autres phénomènes paroxystiques fréquents dans cette population. L’électroencéphalogramme est indispensable pour confirmer l’épilepsie, préciser son type, mais également analyser la maturation cérébrale. Il a également parfois un aspect spécifique dans certains syndromes génétiques, ce qui permet de cibler les demandes d’examen génétique. L’épilepsie peut être avec la déficience la conséquence d’une même cause, comme elle peut être la cause de la déficience. La prise en charge doit être globale thérapeutique, sociale et psychologique. Le respect de la prescription médicale et des consignes d’hygiène de vie doit être rigoureux, sous peine d’avoir une recrudescence de crises ou l’apparition d’effets secondaire

Lessons learned from COVID-19 impact of pandemic on children with neurological disorders in Sfax, Tunisia

To record the experience of caregivers for neurologically impaired children during the lockdown periods. Data from 286 children's caregivers were collected through an administered questionnaire to record: access to care services during the lockdown periods, causes underlying loss of access to care, mitigations adopted by caregivers and patients’ outcomes. The mean age of children was 8.11 years-old and sex ratio (F/M) was 0.66. They were mainly followed-up for epilepsy or epileptic encephalopathy (53%) and cerebral palsy (21%). During the lockdown periods, caregivers reported that 45% of children had no access to healthcare majorly for neurorehabilitation (76.7%) and medicines (70.7%). Most caregivers (36%) related limitations in access to fear from catching the virus. The majority resorted to continuation of the same treatment via primary healthcare facilities (41%) and postponement of their appointments (24%). Our results show that access to healthcare for children with neurological disorders was deeply disrupted during the COVID-19 pandemic. The already precarious health systems’ infrastructures might have been the main causes for this and should be thus considered in the health policy and planing

Position Statement:Emerging genetic therapies for rare disorders

Emerging genetic therapies for rare disorders at high cost, cannot realistically address the global burden of disease. Stakeholders must develop new pathways to ensure safe, fair and sustainable provision of such therapies

Treatment of seizures in the neonate: Guidelines and consensus-based recommendations—Special report from the ILAE Task Force on Neonatal Seizures

Seizures are common in neonates, but there is substantial management variability. The Neonatal Task Force of the International League Against Epilepsy (ILAE) developed evidence-based recommendations about antiseizure medication (ASM) management in neonates in accordance with ILAE standards. Six priority questions were formulated, a systematic literature review and meta-analysis were performed, and results were reported following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) 2020 standards. Bias was evaluated using the Cochrane tool and risk of Bias in non-randomised studies - of interventions (ROBINS-I), and quality of evidence was evaluated using grading of recommendations, assessment, development and evaluation (GRADE). If insufficient evidence was available, then expert opinion was sought using Delphi consensus methodology. The strength of recommendations was defined according to the ILAE Clinical Practice Guidelines development tool. There were six main recommendations. First, phenobarbital should be the first-line ASM (evidence-based recommendation) regardless of etiology (expert agreement), unless channelopathy is likely the cause for seizures (e.g., due to family history), in which case phenytoin or carbamazepine should be used. Second, among neonates with seizures not responding to first-line ASM, phenytoin, levetiracetam, midazolam, or lidocaine may be used as a second-line ASM (expert agreement). In neonates with cardiac disorders, levetiracetam may be the preferred second-line ASM (expert agreement). Third, following cessation of acute provoked seizures without evidence for neonatal-onset epilepsy, ASMs should be discontinued before discharge home, regardless of magnetic resonance imaging or electroencephalographic findings (expert agreement). Fourth, therapeutic hypothermia may reduce seizure burden in neonates with hypoxic–ischemic encephalopathy (evidence-based recommendation). Fifth, treating neonatal seizures (including electrographic-only seizures) to achieve a lower seizure burden may be associated with improved outcome (expert agreement). Sixth, a trial of pyridoxine may be attempted in neonates presenting with clinical features of vitamin B6-dependent epilepsy and seizures unresponsive to second-line ASM (expert agreement). Additional considerations include a standardized pathway for the management of neonatal seizures in each neonatal unit and informing parents/guardians about the diagnosis of seizures and initial treatment options

Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures

Seizures are common in neonates, but there is substantial management variability. The Neonatal Task Force of the International League Against Epilepsy (ILAE) developed evidence-based recommendations about antiseizure medication (ASM) management in neonates in accordance with ILAE standards. Six priority questions were formulated, a systematic literature review and meta-analysis were performed, and results were reported following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) 2020 standards. Bias was evaluated using the Cochrane tool and risk of Bias in non-randomised studies - of interventions (ROBINS-I), and quality of evidence was evaluated using grading of recommendations, assessment, development and evaluation (GRADE). If insufficient evidence was available, then expert opinion was sought using Delphi consensus methodology. The strength of recommendations was defined according to the ILAE Clinical Practice Guidelines development tool. There were six main recommendations. First, phenobarbital should be the first-line ASM (evidence-based recommendation) regardless of etiology (expert agreement), unless channelopathy is likely the cause for seizures (e.g., due to family history), in which case phenytoin or carbamazepine should be used. Second, among neonates with seizures not responding to first-line ASM, phenytoin, levetiracetam, midazolam, or lidocaine may be used as a second-line ASM (expert agreement). In neonates with cardiac disorders, levetiracetam may be the preferred second-line ASM (expert agreement). Third, following cessation of acute provoked seizures without evidence for neonatal-onset epilepsy, ASMs should be discontinued before discharge home, regardless of magnetic resonance imaging or electroencephalographic findings (expert agreement). Fourth, therapeutic hypothermia may reduce seizure burden in neonates with hypoxic-ischemic encephalopathy (evidence-based recommendation). Fifth, treating neonatal seizures (including electrographic-only seizures) to achieve a lower seizure burden may be associated with improved outcome (expert agreement). Sixth, a trial of pyridoxine may be attempted in neonates presenting with clinical features of vitamin B6-dependent epilepsy and seizures unresponsive to second-line ASM (expert agreement). Additional considerations include a standardized pathway for the management of neonatal seizures in each neonatal unit and informing parents/guardians about the diagnosis of seizures and initial treatment options

Megalencephalic leukodystrophy with subcortical cysts (MLC) manifesting migrating partial seizures

Abstract Migrating partial seizures of infancy (MPSI) is a rare, severe, pharmaco-resistant, early-onset epileptic encephalopathy. The underlying causes are poorly understood with only a few numbers of genetic etiologies and no structural, no metabolic cause to be found. We report the case of 3 months-old boy who developed typical clinical and EEG pattern of MPSI. Brain MRI showed leukodystrophy with subcortical cysts (MLC). Such expanded brain lesions, in the context of migrating partial seizures, have not been previously reported.RésuméLes crises focales migrantes de l'enfance (MPSI) est une encéphalopathie épileptique précoce, sévère et pharmaco-résistante. Les causes sous-jacentes sont mal comprises où seulement quelques patients rapportés avec des étiologies génétiques et aucune cause structurelle, ni métabolisme n’a été rapporté. Nous rapportons le cas d'un nourrisson de 3 mois qui a développé des crises épileptiques migrantes. L'IRM cérébrale a montré une leucodystrophie démyélinisante avec des kystes sous-corticaux (MLC). De telles lésions cérébrales étendues pouvant induire des crises focales migrantes, n'ont pas été signalées précédemment

Timing of referral to evaluate for epilepsy surgery: Expert Consensus Recommendations from the Surgical Therapies Commission of the International League Against Epilepsy

Epilepsy surgery is the treatment of choice for patients with drug-resistant seizures. A timely evaluation for surgical candidacy can be life-saving for patients who are identified as appropriate surgical candidates, and may also enhance the care of nonsurgical candidates through improvement in diagnosis, optimization of therapy, and treatment of comorbidities. Yet, referral for surgical evaluations is often delayed while palliative options are pursued, with significant adverse consequences due to increased morbidity and mortality associated with intractable epilepsy. The Surgical Therapies Commission of the International League Against Epilepsy (ILAE) sought to address these clinical gaps and clarify when to initiate a surgical evaluation. We conducted a Delphi consensus process with 61 epileptologists, epilepsy neurosurgeons, neurologists, neuropsychiatrists, and neuropsychologists with a median of 22 years in practice, from 28 countries in all six ILAE world regions. After three rounds of Delphi surveys, evaluating 51 unique scenarios, we reached the following Expert Consensus Recommendations: (1) Referral for a surgical evaluation should be offered to every patient with drug-resistant epilepsy (up to 70 years of age), as soon as drug resistance is ascertained, regardless of epilepsy duration, sex, socioeconomic status, seizure type, epilepsy type (including epileptic encephalopathies), localization, and comorbidities (including severe psychiatric comorbidity like psychogenic nonepileptic seizures [PNES] or substance abuse) if patients are cooperative with management; (2) A surgical referral should be considered for older patients with drug-resistant epilepsy who have no surgical contraindication, and for patients (adults and children) who are seizure-free on 1–2 antiseizure medications (ASMs) but have a brain lesion in noneloquent cortex; and (3) referral for surgery should not be offered to patients with active substance abuse who are noncooperative with management. We present the Delphi consensus results leading up to these Expert Consensus Recommendations and discuss the data supporting our conclusions. High level evidence will be required to permit creation of clinical practice guidelines

Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures

Seizures are common in neonates, but there is substantial management variability. The Neonatal Task Force of the International League Against Epilepsy (ILAE) developed evidence-based recommendations about antiseizure medication (ASM) management in neonates in accordance with ILAE standards. Six priority questions were formulated, a systematic literature review and meta-analysis were performed, and results were reported following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) 2020 standards. Bias was evaluated using the Cochrane tool and risk of Bias in non-randomised studies - of interventions (ROBINS-I), and quality of evidence was evaluated using grading of recommendations, assessment, development and evaluation (GRADE). If insufficient evidence was available, then expert opinion was sought using Delphi consensus methodology. The strength of recommendations was defined according to the ILAE Clinical Practice Guidelines development tool. There were six main recommendations. First, phenobarbital should be the first-line ASM (evidence-based recommendation) regardless of etiology (expert agreement), unless channelopathy is likely the cause for seizures (e.g., due to family history), in which case phenytoin or carbamazepine should be used. Second, among neonates with seizures not responding to first-line ASM, phenytoin, levetiracetam, midazolam, or lidocaine may be used as a second-line ASM (expert agreement). In neonates with cardiac disorders, levetiracetam may be the preferred second-line ASM (expert agreement). Third, following cessation of acute provoked seizures without evidence for neonatal-onset epilepsy, ASMs should be discontinued before discharge home, regardless of magnetic resonance imaging or electroencephalographic findings (expert agreement). Fourth, therapeutic hypothermia may reduce seizure burden in neonates with hypoxic-ischemic encephalopathy (evidence-based recommendation). Fifth, treating neonatal seizures (including electrographic-only seizures) to achieve a lower seizure burden may be associated with improved outcome (expert agreement). Sixth, a trial of pyridoxine may be attempted in neonates presenting with clinical features of vitamin B6-dependent epilepsy and seizures unresponsive to second-line ASM (expert agreement). Additional considerations include a standardized pathway for the management of neonatal seizures in each neonatal unit and informing parents/guardians about the diagnosis of seizures and initial treatment options