5,111 results match your criteria Infantile Spasm West Syndrome


Hypsarrhythmia Paroxysm Intensities that Initiate and Render Physical & Mental Retardation Irreversible in West Syndrome.

Int J Neurosci 2022 May 14:1-10. Epub 2022 May 14.

SANKARA Brain and Biotechnology Research Center, Technology Development Zone, Istanbul University.

Purpose: The present study would like to investigate the effect of hypsarrhythmia paroxysms on neurological examination findings.

Material And Method: This study enrolled 48 children with normal cranial magnetic resonance imaging (cMRI) findings who were previously untreated with adrenocorticotropic hormone (ACTH) and had no history of asphyxia or anoxia at birth, no underlying disease, and no history of head trauma or central nervous system infection. In these children, duration of treatment delay (DTD) was calculated, HPs in NREM sleep were counted, and neurological examination findings were identified. Read More

View Article and Full-Text PDF

mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Feb;47(2):265-270

Department of Pediatrics, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province, Changsha 410008, China.

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and is a pathogenic gene for XLID. In addition to intellectual disability, patients with gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Read More

View Article and Full-Text PDF
February 2022

Discrimination of secondary hypsarrhythmias to Zika virus congenital syndrome and west syndrome based on joint moments and entropy measurements.

Sci Rep 2022 May 5;12(1):7389. Epub 2022 May 5.

Department of Electrical Engineering, Laboratory for Biological Information Processing (PIB), Federal University of Maranhão (UFMA), São Luís, MA, CEP 65080-805, Brazil.

Hypsarrhythmia is a specific chaotic morphology, present in the interictal period of the electroencephalogram (EEG) signal in patients with West Syndrome (WS), a severe form of childhood epilepsy and that, recently, was also identified in the examinations of patients with Zika Virus Congenital Syndrome (ZVCS). This innovative work proposes the development of a computational methodology for analysis and differentiation, based on the time-frequency domain, between the chaotic pattern of WS and ZVCS hypsarrhythmia. The EEG signal time-frequency analysis is carried out from the Continuous Wavelet Transform (CWT). Read More

View Article and Full-Text PDF

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.

Epilepsia 2022 May 3. Epub 2022 May 3.

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker-Enfants Malades University Hospital, APHP, Member of European Reference Network EpiCARE, Institut Imagine, INSERM, UMR 1163, Université Paris cité, Paris, France.

The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in this age group and epilepsy is frequently associated with significant comorbidities and mortality. The licensing of syndrome specific antiseizure medications following randomized controlled trials and the development of precision, gene-related therapies are two of the drivers defining the electroclinical phenotypes of syndromes with onset in infancy. Read More

View Article and Full-Text PDF

Blood coagulation dynamics during adrenocorticotropic hormone therapy in pediatric patients with infantile spasms.

Brain Dev 2022 Apr 29. Epub 2022 Apr 29.

Department of Pediatrics, Nara Medical University, Kashihara, Nara, Japan. Electronic address:

Introduction: Adrenocorticotropic hormone (ACTH) therapy is a first-line treatment for infantile spasms, which may rarely cause intracranial hemorrhage. However, the changes in blood coagulation during ACTH therapy are poorly understood, with little description in the management guidelines.

Objective: To assess the changes in blood coagulation during ACTH therapy. Read More

View Article and Full-Text PDF

Infantile Spasms, Clinical Manifestations of a Rare Brain Tumor: A Case Report and Literature Review.

Iran J Child Neurol 2022 14;16(2):161-166. Epub 2022 Mar 14.

Student Research Committee, School of Medicine, Babol University of Medical Sciences, Babol, Iran.

Desmoplastic infantile ganglioglioma (DIG) has a favorable prognosis and is classified as a benign infantile brain tumor. The DIG is more common in children under 2 years of age than in other age groups. This report introduces a 5. Read More

View Article and Full-Text PDF

A Rare Presentation Characterized by Epileptic Spasms in , Pyridox(am)ine-5'-Phosphate Oxidase, and Deficiency.

Front Genet 2022 12;13:804461. Epub 2022 Apr 12.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6-dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by mutation, pyridox(am)ine-5'-phosphate oxidase () deficiency, and deficiency. We analyzed data from a cohort of 54 cases with PDE, 13 cases with deficiency, and 2 cases with deficiency and looked for the presentation of ES among them. A total of 11 patients with the seizure presentation of ES have been collected. Read More

View Article and Full-Text PDF

Long-Term Health Outcomes of Infantile Spasms Following Prednisolone vs. Adrenocorticotropic Hormone Treatment Characterized Using Phenome-Wide Association Study.

Front Neurol 2022 13;13:878294. Epub 2022 Apr 13.

Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, United States.

Objective: To determine differences in long-term health and neurological outcomes following infantile spasms (IS) in patients treated with adrenocorticotropic hormone (ACTH) vs. prednisolone/prednisone (PRED).

Methods: A retrospective, case-control study of patients with an International Classification of Diseases, Ninth Revision, Clinical Modifications (ICD-9) diagnosis of IS, identified over a 10-year period from a national administrative database, was conducted. Read More

View Article and Full-Text PDF

CDKL5 deficiency disorder: clinical features, diagnosis, and management.

Lancet Neurol 2022 Jun 25;21(6):563-576. Epub 2022 Apr 25.

Department of Neurology, Children's Hospital Colorado, Aurora, CO, USA; Department of Pediatrics, University of Colorado at Denver, Aurora, CO, USA; Department of Neurology, University of Colorado at Denver, Aurora, CO, USA.

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. It is characterised by early-onset (generally within the first 2 months of life) seizures that are usually refractory to polypharmacy. Read More

View Article and Full-Text PDF

TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model.

Sci Transl Med 2022 Apr 27;14(642):eabm5527. Epub 2022 Apr 27.

Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA 94158, USA.

Intracellular accumulation of TAU aggregates is a hallmark of several neurodegenerative diseases. However, global genetic reduction of TAU is beneficial also in models of other brain disorders that lack such TAU pathology, suggesting a pathogenic role of nonaggregated TAU. Here, conditional ablation of TAU in excitatory, but not inhibitory, neurons reduced epilepsy, sudden unexpected death in epilepsy, overactivation of the phosphoinositide 3-kinase-AKT-mammalian target of rapamycin pathway, brain overgrowth (megalencephaly), and autism-like behaviors in a mouse model of Dravet syndrome, a severe epileptic encephalopathy of early childhood. Read More

View Article and Full-Text PDF

Importance of Early Electrophysiology in Spasmus Nutans.

Klin Monbl Augenheilkd 2022 04 26;239(4):597-598. Epub 2022 Apr 26.

Department of Ophthalmology, University Hospital Basel, Switzerland.

View Article and Full-Text PDF

Age at onset in patients with Lennox-Gastaut syndrome: Correlations with clinical manifestations.

J Clin Neurosci 2022 Jun 22;100:138-142. Epub 2022 Apr 22.

Epilepsy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

The aim of the current study was to investigate the age at onset in patients with Lennox-Gastaut Syndrome (LGS). We also investigated the clinical and EEG characteristics of these patients in different age groups. This was a retrospective study. Read More

View Article and Full-Text PDF

A Role for Insulin-like Growth Factor 1 in the Generation of Epileptic Spasms.

Ann Neurol 2022 Apr 25. Epub 2022 Apr 25.

The Cain Foundation Laboratories, the Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.

Objective: Infantile spasms are associated with a wide variety of clinical conditions, including perinatal brain injuries. We have created a model in which prolonged infusion of tetrodotoxin (TTX) into the neocortex, beginning in infancy, produces a localized lesion and reproduces the behavioral spasms, electroencephalogram (EEG) abnormalities, and drug responsiveness seen clinically. Here, we undertook experiments to explore the possibility that the growth factor IGF-1 plays a role in generating epileptic spasms. Read More

View Article and Full-Text PDF

Dravet syndrome in children-A population-based study.

Epilepsy Res 2022 May 8;182:106922. Epub 2022 Apr 8.

Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, 405 30 Gothenburg, Sweden; Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Member of the ERN EpiCARE, 413 45 Gothenburg, Sweden.

Objective: The aim was to describe age at diagnosis, cumulative incidence, SCN1A variants, mortality, seizure types and treatments in children with Dravet Syndrome (DS) in Sweden.

Methods: Children diagnosed with DS, born between January 1st 2000 and December 31st 2018 were included in a population-based study. Clinical data, frequency of seizure types and treatments were collected from caregivers and medical records in 42 children. Read More

View Article and Full-Text PDF

Comparison of Efficacy and Safety of Low- Versus High-Dose Oral Prednisolone in Infantile Spasm (IS): An Open Label Randomized Controlled Trial at the Children's Hospital & Institute of Child Health, Multan, Pakistan.

Cureus 2022 Mar 14;14(3):e23164. Epub 2022 Mar 14.

Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Multan, PAK.

Background: Infantile spasm (IS) is an epileptic syndrome characterized by epileptic spasms, hypsarrhythmia on electroencephalography (EEG), and high risk of neurodevelopmental regression. This study was done to compare the efficacy and safety of the high versus the usual dose in children with IS.

Methodology: This open label randomized controlled trial was conducted at Department of Pediatric Neurology, The Children's Hospital & Institute of Child Health, Multan, Pakistan, from January 1, 2020 to December 31, 2020. Read More

View Article and Full-Text PDF

DEPDC5-related epilepsy: A comprehensive review.

Authors:
Debopam Samanta

Epilepsy Behav 2022 May 14;130:108678. Epub 2022 Apr 14.

Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, United States. Electronic address:

DEPDC5-related epilepsy, caused by pathogenic germline variants(with or without additional somatic variants in the brain) of DEPDC5 (Dishevelled, Egl-10 and Pleckstrin domain-containing protein 5) gene, is a newly discovered predominantly focal epilepsy linked to enhanced mTORC1 pathway. DEPDC5-related epilepsy includes several familial epilepsy syndromes, including familial focal epilepsy with variable foci (FFEVF) and rare sporadic nonlesional focal epilepsy. DEPDC5 has been identified as one of the more common epilepsy genes linked to infantile spasms and sudden unexpected death (SUDEP). Read More

View Article and Full-Text PDF

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.

Lancet Neurol 2022 05;21(5):417-427

New York University Langone Comprehensive Epilepsy Center, New York, NY, USA.

Background: CDKL5 deficiency disorder (CDD) is a rare, X-linked, developmental and epileptic encephalopathy characterised by severe global developmental impairment and seizures that can begin in the first few months after birth and are often treatment refractory. Ganaxolone, an investigational neuroactive steroid, reduced seizure frequency in an open-label, phase 2 trial that included patients with CDD. We aimed to further assess the efficacy and safety of ganaxolone in patients with CDD-associated refractory epilepsy. Read More

View Article and Full-Text PDF

A potential new treatment for CDKL5 deficiency disorder.

Authors:
Deepak Gill

Lancet Neurol 2022 05;21(5):394-395

TY Nelson Department of Neurology and the Epilepsy and Movement Disorders Group, Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia. Electronic address:

View Article and Full-Text PDF

Assessing Risk for Relapse among Children with Infantile Spasms Using the Based Score after ACTH Treatment: A Retrospective Study.

Neurol Ther 2022 Jun 15;11(2):835-849. Epub 2022 Apr 15.

Senior Department of Pediatrics, The Seventh Medical Center of PLA General Hospital, Beijing, 100000, China.

Introduction: Even though adrenocorticotropic hormone (ACTH) demonstrated powerful efficacy in the initially successful treatment of infantile spasms (IS), nearly one-half of patients whose spasms were once suppressed experienced relapse. There is currently no validated method for the prediction of the risk of relapse. The Burden of Amplitudes and Epileptiform Discharges (BASED) score is an electroencephalogram (EEG) grading scale for children with infantile spasms. Read More

View Article and Full-Text PDF

Severe liver dysfunction in a toddler receiving nonprescription phytocannabinoid.

J Am Pharm Assoc (2003) 2022 Mar 17. Epub 2022 Mar 17.

Background: Nonprescription cannabis products are becoming widely available and being promoted for various health conditions. Safety profile of these products apart from psychoactive effects has not been studied and published well. Liver dysfunction is well described in literature with high doses of recreational tetrahydrocannabinol and cannabidiol products but not with nonprescription phytocannabinoids products used for various medicinal values. Read More

View Article and Full-Text PDF

Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice.

Hum Mol Genet 2022 Apr 13. Epub 2022 Apr 13.

Departments of Pharmacology, Northwestern University Feinberg School of Medicine; Chicago, IL, USA 60611.

Genetic variants in SCN2A, encoding the NaV1.2 voltage-gated sodium channel, are associated with a range of neurodevelopmental disorders with overlapping phenotypes. Some variants fit into a framework wherein gain-of-function missense variants that increase neuronal excitability lead to developmental and epileptic encephalopathy, while loss-of-function variants that reduce neuronal excitability lead to intellectual disability and/or autism spectrum disorder with or without co-morbid seizures. Read More

View Article and Full-Text PDF

Multicenter Study of the Impact of COVID-19 Shelter-In-Place on Tertiary Hospital-based Care for Pediatric Neurologic Disease.

Neurohospitalist 2022 Apr 1;12(2):218-226. Epub 2022 Feb 1.

Department of Pediatrics, Section of Child Neurology, Oregon Health & Science University, Portland, OR, USA.

Objective: To describe changes in hospital-based care for children with neurologic diagnoses during the initial 6 weeks following regional Coronavirus 2019 Shelter-in-Place orders.

Methods: This retrospective cross-sectional study of 7 US and Canadian pediatric tertiary care institutions included emergency and inpatient encounters with a neurologic primary discharge diagnosis code in the initial 6 weeks of Shelter-in-Place (COVID-SiP), compared to the same period during the prior 3 years (Pre-COVID). Patient demographics, encounter length, and neuroimaging and electroencephalography use were extracted from the medical record. Read More

View Article and Full-Text PDF

Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review.

Brain Dev 2022 Apr 9. Epub 2022 Apr 9.

Department of Paediatrics, Mater dei Hospital, Msida, Malta. Electronic address:

Background: De novo mutations in the GABBR2 (Gamma-Aminobutyric acid Type B Receptor Subunit 2) gene have recently been reported to be associated with a form of early-infantile epileptic encephalopathy (EIEE59; OMIM# 617904), as well as a Rett syndrome (RTT)-like disorder defined as a neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS; OMIM# 617903).

Methods: We describe a pediatric case carrying a de novo GABBR2 pathogenic variant and showing a phenotype encompassing RTT, epilepsy, generalized hypotonia with a paroxysmal limb dystonia.

Results: A 11-year-old girl, born to non-consanguineous parents after an uneventful pregnancy, had developmental delay and generalized hypotonia. Read More

View Article and Full-Text PDF

Extent of EEG monitoring for detecting epileptic spasms.

Seizure 2022 Apr 24;97:102-105. Epub 2022 Mar 24.

Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, 6701 Fannin Street, Suite 1250, Houston, TX, 77030, USA.

Introduction: Epileptic spasms (ES) are the ictal manifestation of West syndrome. Due to poor interrater reliability in diagnosing hypsarrhythmia, identification of ES - ideally on video EEG monitoring - is important to start proper treatment.

Methods: We retrospectively analyzed inpatient video EEG recordings of 42 patients with new onset ES and calculated the time needed to capture the first ES, along with time to first sleep epoch, among other data. Read More

View Article and Full-Text PDF

Inequities in Therapy for Infantile Spasms: A Call to Action.

Ann Neurol 2022 Apr 7. Epub 2022 Apr 7.

Department of Pediatrics, New York-Presbyterian Komansky Children's Hospital, Weill Cornell Medicine, New York, NY, USA.

Objective: The aim of this study was to determine whether selection of treatment for children with infantile spasms (IS) varies by race/ethnicity.

Methods: The prospective US National Infantile Spasms Consortium database includes children with IS treated from 2012 to 2018. We examined the relationship between race/ethnicity and receipt of standard IS therapy (prednisolone, adrenocorticotropic hormone, vigabatrin), adjusting for demographic and clinical variables using logistic regression. Read More

View Article and Full-Text PDF

Diffusion tractography predicts propagated high-frequency activity during epileptic spasms.

Epilepsia 2022 Apr 7. Epub 2022 Apr 7.

Translational Neuroscience Program, Wayne State University, Detroit, Michigan, USA.

Objective: To determine the structural networks that constrain propagation of ictal oscillations during epileptic spasm events, and compare the observed propagation patterns across patients with successful or unsuccessful surgical outcomes.

Methods: Subdural electrode recordings of 18 young patients (age 1-11 years) were analyzed during epileptic spasm events to determine ictal networks and quantify the amplitude and onset time of ictal oscillations across the cortical surface. Corresponding structural networks were generated with diffusion magnetic resonance imaging (MRI) tractography by seeding the cortical region associated with the earliest average oscillation onset time, and white matter pathways connecting active electrode regions within the ictal network were isolated. Read More

View Article and Full-Text PDF

Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology.

Front Pediatr 2022 17;10:842666. Epub 2022 Mar 17.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Objective: The aim of this study was to evaluate the efficacy of the ketogenic diet (KD) for infantile spasms (IS) in patients with and without different causative genetic mutations.

Methods: We retrospectively evaluated the data of 119 infants with IS who underwent whole-exome sequencing (WES) before KD treatment. The KD efficacy was analyzed at the 16th week after initiation. Read More

View Article and Full-Text PDF

Epilepsy: expert opinion on emerging drugs in phase 2/3 clinical trials.

Expert Opin Emerg Drugs 2022 Mar 1;27(1):75-90. Epub 2022 Apr 1.

Mid-Atlantic Epilepsy and Sleep Center, Comprehensive Neurology Clinics of Bethesda, Bethesda, MD, USA.

Introduction: Despite the existence of over 30 anti-seizure medications (ASM), including 20 over the last 30 years, a third of patients with epilepsy remain refractory to treatment, with no disease-modifying or preventive therapies until very recently. The development of new ASMs with new mechanisms of action is therefore critical. Recent clinical trials of new treatments have shifted focus from traditional common epilepsies to rare, genetic epilepsies with known mechanistic targets for treatment and disease-specific animal models. Read More

View Article and Full-Text PDF

The gut microbiome and the ketogenic diet: A pathway towards treatment optimization in infantile spasms.

Authors:
Cian McCafferty

EBioMedicine 2022 04 23;78:103924. Epub 2022 Mar 23.

Department of Anatomy and Neuroscience, University College Cork, Cork, Ireland. Electronic address:

View Article and Full-Text PDF

Deep feature fusion based childhood epilepsy syndrome classification from electroencephalogram.

Neural Netw 2022 Jun 15;150:313-325. Epub 2022 Mar 15.

Department of Neurology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310003, China.

Accurate classification of the children's epilepsy syndrome is vital to the diagnosis and treatment of epilepsy. But existing literature mainly focuses on seizure detection and few attention has been paid to the children's epilepsy syndrome classification. In this paper, we present a study on the classification of two most common epilepsy syndromes: the benign childhood epilepsy with centro-temporal spikes (BECT) and the infantile spasms (also known as the WEST syndrome), recorded from the Children's Hospital, Zhejiang University School of Medicine (CHZU). Read More

View Article and Full-Text PDF