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Introduction Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by mutations in TCF4. Seizures have been found to vary among patients with PTHS. We report the case of a PTHS patient with a novel missense mutation in the gene TCF4, presenting with two types of early epileptic encephalopathy. Case report The patient was a Japanese boy. His first seizure was reported at 17 days of age, with twitching of the left eyelid and tonic-clonic seizures on either side of his body. An ictal electroencephalogram (EEG) showed epileptic discharges arising independently from both hemispheres, occasionally resembling migrating partial seizures of infancy (MPSI) that migrated from one side to the other. Brain magnetic resonance imaging revealed agenesis of the corpus callosum. His facial characteristics included a distinctive upper lip and thickened helices. His seizures were refractory, and psychomotor development was severely delayed. At the age of 10 months, he developed West syndrome with spasms and hypsarrhythmia. After being prescribed topiramate (TPM), his seizures and EEG abnormalities dramatically improved. Also, psychomotor development progressed. Whole-exome sequencing revealed a novel de novo missense mutation in exon 18 (NM_001083962.2:c.1718A > T, p.(Asn573Ile)), corresponding to the basic region of the basic helix-loop-helix domain, which may be a causative gene for epileptic encephalopathy. Conclusions To our knowledge, this is the first report of a patient with PTHS treated with TPM, who presented with both MPSI as well as West syndrome. This may help provide new insights regarding the phenotypes caused by mutations in TCF4.

Актуальність. Синдром Веста характеризується картиною гіпсаритмії на електроенцефалографії, судомами спазмового типу і тріадою психомоторної регресії. Метою цього дослідження було визначення демографічних характеристик, клінічних та лабораторних показників, відповіді на лікування, впливу на формування нервової системи та факторів ризику, що розвинулися протягом тривалого спостереження пацієнтів із діагнозом синдрому Веста. Матеріали та методи. У дослідження були включені пацієнти, у яких був діагностований синдром Веста в період з липня 2011 року по грудень 2012 року на кафедрі дитячої неврології університету Ататюрка. З анамнезу кожного пацієнта були зібрані наступні дані. Були розглянуті показники загального та неврологічного досліджень, церебральної томографії та електроенцефалографії. Біохімічні аналізи проводилися за результатами лабораторних досліджень. Розвиток кожної дитини оцінювався за допомогою тесту для скринінгу на розвиток Denver 2, тесту для контролю та скринінгу розвитку Ankara. Результати. Співвідношення хлопчиків і дівчаток серед наших пацієнтів становило 2,28 : 1, а середній вік становив 8,62 ± 7,20 місяця (медіана: 8,0). 59 (85,51 %) пацієнтів були в симптоматичній групі й 10 (14,49 %) — у групі з ідіопатичним генезом захворювання. Найбільш частими факторами в симптоматичній групі були вроджені аномалії центральної нервової системи (45,7 %) і гіпоксично-ішемічна енцефалопатія (28,8 %). Спостерігалася вірогідна різниця між ідіопатичною та симптоматичною групами за частотою рецидивів, рентгенологічними даними та прогнозом (р = 0,035/р < 0,001/р < 0,001). Рецидив спостерігався в 43,5 % хворих. Серед пацієнтів, які отримували адренокортикотропний гормон, 83 % особи відповіли на лікування, у 17 % реєстрували резистентні судоми. Статистично значущої різниці між відповідями на лікування адренокортикотропним гормоном та іншими методами лікування не було (р = 0,093). У 46 з 55 дітей (83,6 %) була виявлена затримка розвитку. Висновки. Рання діагностика і лікування, надання належного й зручного лікування при синдромі Веста можуть чинити сприятливий вплив на прогноз залежно від етіології.

Background Scurvy is a nutritional vitamin C deficiency disease which shows classical signs on radiographs most commonly along long bones with subperiosteal hemorrhage being a classical finding. Primary presentation of scurvy with orbital hemorrhage presenting as proptosis is however uncommon. Case presentation We report an unusual primary presentation of scurvy in a 4-year-old boy with West syndrome and global developmental delay who presented to the emergency with complaints of bilateral proptosis and eyelid swelling (right > left) which on examination revealed bluish discolouration of bilateral eyelids. On further multimodality imaging investigation, orbital subperiosteal hemorrhages were identified as the cause, along with classical radiographic features of scurvy in bilateral lower limb long bones. The diagnosis was further bolstered by rapid resolution of periorbital ecchymosis after initiating oral vitamin C supplementation. Conclusion To the best of our knowledge, primary presentation of scurvy in the form of bilateral proptosis due to orbital hemorrhages although uncommon can still be a manifestation of scurvy in addition to the more routinely detected subperiosteal hemorrhages along long bones. The significance of establishing the aetiology in such cases of orbital hemorrhage cannot be overemphasised, in view of drastic clinical recovery after starting vitamin C therapy.

Objectives: West syndrome (WS) is a triad of epileptic spasms, developmental delay/regression, and hypsarrhythmia. SCN related epileptic encephalopathy is a rare epilepsy syndrome characterized by an early-onset, severe, and epileptic encephalopathy. The causes of WS are multiple and diverse ranging from genetic to structural, metabolic, and unknown causes. The objectives of the study were to report SCN related epileptic encephalopathies with epileptic spasms. Materials and Methods: This is retrospective chart review of children presenting with epileptic spasms secondary to SCN gene variants from January 2015 to March 2020 in a tertiary care referral center. Results: Out of 15 children, ten were boys. The mean age of presentation was 5 months. Thirteen children had preceded seizures before epileptic spasms in the 1st year of life, two children presented initially with epileptic spasms. No neuro-deficits were noted in all the children. In all the cases electroencephalogram was suggestive of hypsarrhythmia. Routine testing, neuroimaging, and metabolic tests were normal in all the cases. Various pathogenic variants seen in next-generation sequencing were SCN1A in 11, SCN1B and SCN2A in two children each. Three children responded for vigabatrin and five children responded for steroids but all of them had relapse and were refractory to other antiepileptic drugs. Conclusion: SCN related epileptic encephalopathy should be considered in the differential diagnosis of epileptic spasms. These infants present earlier compare to classical Dravet syndrome children.

KCNT1 gene encodes the sodium-dependent potassium channel reported as a causal factor for several different epileptic disorders. The gene has been also linked with cardiac disorders and in a family to sudden unexpected death in epilepsy. KCNT1 mutations, in most cases, result in a gain of function causing a neuronal hyperpolarization with loss of inhibition. Many early-onset epileptic encephalopathies related to gain of function of KCNT1 gene have been described, most often associated with two phenotypes: malignant migrating focal seizures of infancy and familial autosomal-dominant nocturnal frontal lobe epilepsy; however, there is no clear phenotype–genotype correlation, in fact same mutations have been represented in patients with West syndrome, Ohtahara syndrome, and early myoclonic encephalopathy. Additional neurologic features include intellectual disability, psychiatric disorders, hypotonia, microcephaly, strabismus, and movement disorders. Conventional anticonvulsant, vagal stimulation, and ketogenic diet have been used in the absence of clinical benefit in individuals with KCNT1-related epilepsy; in some patients, quinidine therapy off-label has been practiced successfully. This review aims to describe the characteristics of the gene, the phenotypes related to genetic mutations with the possible genotype–phenotype correlations and the treatments proposed to date, discussing the comorbidities reported in the literature.

Objective It has been known that West syndrome (WS) patients with an unknown etiology have better clinical outcomes than patients with an identified etiology of any kind. However, after the exponential discovery of genes with mutations responsible for developmental and epileptic encephalopathy (DEE), a significant proportion of patients with a previously unknown etiology have been reclassified as having a genetic etiology, requiring reinvestigation of this concept. Therefore, this study investigated clinical outcomes of WS patients with genetic and unknown etiologies. Methods Patients diagnosed with WS without structural or metabolic abnormalities were included in this study. The DEE gene panel, comprising 172 genes, was performed for all patients. All patients were treated using the same treatment protocol for vigabatrin and high-dose prednisolone add-on therapy. Favorable responders were defined as patients who were seizure-free and whose electroencephalogram showed Burden of Amplitudes and Epileptiform Discharges scores of 2 or less. Results Of the 58 patients included in the study, 17 (29.3%) patients had an identified genetic etiology. There was no significant difference in rates of favorable response at 1 and 3 months after treatment, but significantly higher proportions of patients exhibited favorable responses among those with an unknown etiology at long-term follow-up (41.2% vs. 78.0%, p = .006 at 6 months; 29.4% vs. 65.9%, p = .011 at 1 year; 23.5 vs. 65.9%, p = .003 at 2 years). Moreover, the mental, psychomotor, and social age quotients of the patients with an identified genetic etiology were reduced to a significantly greater degree since diagnosis compared with those of the patients with an unknown etiology. Significance WS patients with genetic and unknown etiologies did not initially exhibit significantly different response rates to the vigabatrin and high-dose prednisolone add-on treatment. However, patients with a genetic etiology exhibited significantly higher relapse rates and significantly poorer long-term responses.

Background: West Syndrome (WS) consists of epileptic spasms, hypsarrhythmia on EEG and psychomotor delay or regression in children. Objective: To observe the clinical and laboratory profiles of children with west syndrome. Materials & Methods: This was a cross sectional study and done from July 2017 to June 2018 in Pediatric Neurology OPD, NINS among total 50 cases of WS (age of > 2 month to 2 years). WS was diagnosed by direct observation or video recording of spasm, along with history of developmental delay or regression and EEG change. Collected data regarding demography, detailed of spasm, clinical examination, radiological and EEG findings were analyzed. Results: Mean age of the patients was 12.61 ± 7.11 months. Males (58.0%) were predominant than females (42.0%). Mean age of onset of spasm was 5.88 ± 3.73 months. Type of spasm: Flexor in 88.0% cases, extensor in 6.0% cases, mixed in 4.0% and asymmetric in 2.0%. Microcephaly was present in 90.0% cases and in 64% cases H/o perinatal asphyxia (PNA) was present. In EEG, Hypsarrhythmia was found in 62.0% cases and modified hypsarrhythmia in 38.0% cases. In CT scan of brain, cerebral atrophy was found in 62.5.0% cases, stroke in 6.0% cases. Out of all WS patients 82% were symptomatic and 18% were either cryptogenic or idiopathic. Conclusion: Flexor type spasm was found more commonly in West syndrome. History of perinatal asphyxia (PNA) was present in majority of cases. In EEG findings, hypsarrhythmia was found more than modified hypsarrhythmia. Bangladesh J Child Health 2020; VOL 44 (3) :139-142

Objective Kinesin family member 5A (KIF5A) is a molecular motor protein responsible for intracellular transport, specifically in neurons. While abnormalities in the KIF5A gene have been reported in the onset of various neurological diseases, there are no studies demonstrating an association between this gene and West syndrome. Methods In the case presented here, epileptic spasms appeared at 7 months; electroencephalogram (EEG) investigation confirmed hypsarrhythmia, resulting in a diagnosis of West syndrome. The patient exhibited peculiar facies, hypotonia, failure to thrive, and severe global developmental delay. Results Cranial magnetic resonance imaging (MRI) revealed severe delayed myelination. 123I‐iomazenil SPECT image at 7 months demonstrated decreased accumulation in bilateral areas, including the primary somatosensory and motor cortices, and the primary and association visual areas compared to an age‐matched control. Whole exome sequencing analysis demonstrated a novel de novo heterozygous missense variant in KIF5A, (NM_004984.4:c.710A>T: p. Glu237Val). Significance It was concluded that the KIF5A variant impaired the transport of GABAA receptors to the cell membrane surface, thus leading to an imbalance of these receptors between regions of the cerebrum and resulting in the onset of epilepsy.

Major aortopulmonary collateral arteries (MAPCAs) are abnormal systemic to pulmonary collateral vessels originating from the persistent segmental arteries. The common conditions concomitant with MAPCA are congenital heart diseases with reduced pulmonary blood flow. Isolated MAPCAs represent occurrence of collaterals in the absence of underlying heart disease, which commonly present as heart failure, recurrent respiratory tract infection, and pulmonary artery hypertension. Here, we describe a case of West syndrome presenting with hemoptysis due to isolated MAPCAs and its causal relation and management.

Vesicular chloride/proton exchangers of the CLC family are critically involved in the function of the endosomal-lysosomal pathway. Their dysfunction leads to severe disorders including intellectual disability and epilepsy for ClC-4, Dent's disease for ClC-5, and lysosomal storage disease and osteopetrosis for ClC-7. Here, we report a de novo variant p.Glu200Ala (p.E200A; c.599A>C) of the late endosomal ClC-6, encoded by CLCN6, in a patient with West syndrome (WS), severe developmental delay, autism, movement disorder, microcephaly, facial dysmorphism, and visual impairment. Mutation of this conserved glutamate uncouples chloride transport from proton antiport by ClC-6. This affects organellar ion homeostasis and was shown to be deleterious for other CLCs. In this study, we found that upon heterologous expression, the ClC-6 E200A variant caused autophagosome accumulation and impaired the clearance of autophagosomes by blocking autophagosome-lysosome fusion. Our study provides clinical and functional support for an association between CLCN6 variants and WS. Our findings also provide novel insights into the molecular mechanisms underlying the pathogenesis of WS, suggesting an involvement of autophagic-lysosomal dysfunction.

Introduction:Perinatal arterial ischemic stroke (PAIS) underlies approximately 10% of infantile spasms (IS). We aim to identify patterns of brain injury in ischemic stroke that may predispose infants to infantile spasms.Methods:Sixty-four perinatal arterial ischemic stroke patients were identified meeting the following inclusion criteria: term birth, magnetic resonance imaging (MRI) showing ischemic stroke or encephalomalacia in an arterial distribution, and follow-up records. Patients who developed infantile spasms (PAIS-IS) were analyzed descriptively for ischemic stroke injury patterns and were compared to a seizure-free control group (PAIS-only). Stroke injury was scored using the modified pediatric ASPECTS (modASPECTS).Results:The PAIS-IS (n = 9) group had significantly higher modASPECTS than the PAIS-only (n = 16) group ( P = .002, Mann-Whitney). A greater proportion of PAIS-IS patients had injury to deep cerebral structures (67%) than PAIS-only (25%).Conclusion:Infarct size was significantly associated with infantile spasms development. Results support theories implicating deep cerebral structures in infantile spasms pathogenesis. This may help identify perinatal arterial ischemic stroke patients at risk of infantile spasms, facilitating more timely diagnosis.

Objective Asparagine‐linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG13 de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis. Methods We delineate the phenotypic spectrum of 38 individuals, 37 girls and one boy, 16 of them novel and 22 published, with the most common pathogenic ALG13 variant p.(Asn107Ser) and additionally report the phenotype of three individuals carrying other likely pathogenic ALG13 variants. Results The phenotypic spectrum often comprised pharmacoresistant epilepsy with epileptic spasms, mostly with onset within the first 6 months of life and with spasm persistence in one‐half of the cases. Tonic seizures were the most prevalent additional seizure type. Electroencephalography showed hypsarrhythmia and at a later stage of the disease in one‐third of all cases paroxysms of fast activity with electrodecrement. ALG13‐related DEE was usually associated with severe to profound developmental delay; ambulation was acquired by one‐third of the cases, whereas purposeful hand use was sparse or completely absent. Hand stereotypies and dyskinetic movements including dystonia or choreoathetosis were relatively frequent. Verbal communication skills were absent or poor, and eye contact and pursuit were often impaired. Significance X‐linked ALG13‐related DEE usually manifests as West syndrome with severe to profound developmental delay. It is predominantly caused by the recurrent de novo missense variant p.(Asn107Ser). Comprehensive functional studies will be able to prove or disprove an association with congenital disorder of glycosylation.

Background: The epileptic encephalopathies collectively exact an immense personal, medical, and financial toll on the affected children, their families, and the healthcare system. Objective: This study was aimed to delineate the clinical spectrum of patients with Epileptic encephalopathies (EEs) and classify them under various epileptic syndromes. Methods: This was a cross-sectional study that was carried out in the department of Neurophysiology of the National Institute of Neurosciences and Hospital, Bangladesh from July 2016 to June 2019. Children with recurrent seizures which were difficult to control and associated with developmental arrest or regression in absence of a progressive brain pathology were considered to be suffering from EE. Children under 12 years of age fulfilling the inclusion criteria were enrolled in the study. These patients were evaluated clinically and Electroencephalography (EEG) was done in all children at presentation. Based on the clinical profile and EEG findings the patients were categorized under various epileptic syndromes according to International League Against Epilepsy (ILAE) classification 2010. Results: A total of 1256 children under 12 years of age were referred to the Neurophysiology Department. Among them, 162 (12.90%) fulfilled the inclusion criteria. Most of the patients were male (64.2%) and below 1 year (37.7%) of age. The majority (56.8%) were delivered at the hospital and 40.1% had a history of perinatal asphyxia. Development was age-appropriate before the onset of a seizure in 38.9% of cases. Most (53.7%) of the patients had seizure onset within 3 months of age. Categorization of Epileptic syndromes found that majority had West Syndrome (WS) (37.65%) followed by Lennox-Gastaut syndrome (LGS) (22.22%), Otahara syndrome (11.73%), Continuous spike-and-wave during sleep (CSWS) (5.66%), Myoclonic astatic epilepsy (MAE) (4.94%), Early myoclonic encephalopathy (EME) (3.7%), Dravet syndrome (3.7%) and Landau-Kleffner syndrome (LKS) (1.23%). 9.26% of syndromes were unclassified. Conclusion: EEG was found to be a useful tool in the evaluation of Epileptic encephalopathies. The clinico-electroencephalographic features are age-related. Their recognition and appropriate management are critical.

Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disorder caused by mutations in either TSC1 on chromosome 16 or TSC2 on chromosome 9, clinically characterized mainly by facial angiofibroma, epilepsy, and intellectual disability. Cortical dysplasias, subependymal nodules, and subependymal giant cell astrocytoma are characteristic central nervous system lesions among 11 major features in the current clinical diagnostic criteria for TSC. We encountered an unusual case of genetically confirmed TSC1 presenting with symptomatic West syndrome due to an isolated cortical dysplasia in the left occipital lobe of a six-month-old male infant who did not meet the clinical diagnostic criteria for TSC. The patient underwent left occipital lesionectomy at age 11 months and has been seizure-free for nearly six years since then. Histological examination of the resection specimen revealed cortical neuronal dyslamination with abundant dysmorphic neurons and balloon cells, consistent with focal cortical dysplasia (FCD) type IIb. However, the lesion was also accompanied by unusual features, including marked calcifications, dense fibrillary gliosis containing abundant Rosenthal fibers, CD34-positive glial cells with abundant long processes confined to the dysplastic cortex, and multiple nodular lesions occupying the underlying white matter, consisting exclusively of balloon cell and/or balloon-like astrocytes with focal calcifications. Genetic testing for TSC1 and TSC2 using the patient's peripheral blood revealed a germline heterozygous mutation in exon 7 (NM_000368.5: c.526dupT, p.Tyr176fs) in TSC1. Isolated FCD with unusual features such as calcification, dense fibrillary gliosis, Rosenthal fibers and/or subependymal nodule-like lesions in the white matter may indicate the possibility of a cortical tuber even without a clinical diagnosis of TSC. Identification of such histopathological findings has significant implications for early and accurate diagnosis and treatment of TSC, and is likely to serve as an important supplementary feature for the current clinical diagnostic criteria for TSC.

To assess the feasibility, effectiveness, and safety of pulse methylprednisolone in comparison with intramuscular adrenocorticotropic hormone (ACTH) therapy in children with West syndrome (WS). This open-label, pilot study with a parallel-group assignment included 44 recently diagnosed children with WS. Methylprednisolone therapy was given as intravenous infusion at a dose of 30 mg/kg/d for five days followed by oral steroids 1 mg/kg gradually tapered over 5–6 wk. The efficacy outcomes included a cessation of epileptic spasms (as per caregiver reporting) and resolution of hypsarrhythmia on electroencephalogram; safety outcome was the frequency of various adverse effects. By day 14 of therapy, 6/18 (33.3%) children in the methylprednisolone group and 10/26 (38.5%) children in the ACTH group achieved cessation of epileptic spasms [group difference − 5.2%; confidence interval (CI) -30.7 to 22.8; p = 0.73]. However, by six weeks of therapy, 4/18 (22.2%) children in the methylprednisolone group and 11/26 (42.3%) children in the ACTH group had cessation of epileptic spasms (group difference − 20.1%; CI -43.0 to 8.4; p = 0.17). Hypertension was more commonly observed in the ACTH group (10 children) than in the methylprednisolone group (2 children; p = 0.046). Pulse methylprednisolone therapy was relatively safe. The study observed limited effectiveness of both ACTH and pulse methylprednisolone therapy, which may partially be due to preponderance of structural etiology and a long treatment lag. However, pulse methylprednisolone therapy appeared to be safe, tolerable, and feasible for management of WS.

The review of current ideas about the early diagnosis of West syndrome is presented in terms of electroencephalography data based on a characterization of the period of prehypsarrhythmia preceding the appearance of the pattern of hypsarrhythmia. There are considered examples of our observations. Also, our data from a study of a group of children with hypsarrhythmia are described. A lot of studies of clinical manifestations and neurophysiological aspects of West syndrome have been conducted after the onset of clinical manifestations in the form of spasms, and variants of the transformation of West syndrome have been reported. On the other hand, very few studies of its clinical and electroencephalographic evolution have been conducted since the prehypsarrhythmic stage. The opportunity to reliably identify this precursor period would be the first step towards early diagnosis of West syndrome. Early prediction and subsequent intervention in West syndrome will have significant predictive value. A retrospective analysis of 68 electroencephalographic studies was conducted at the National Medical Research Center for childrens health. Based on the preliminary data of our study, we can distinguish a period of 1 to 3 months, during which in most children, the EEG pattern from prehypsarrhythmic in the form of multi-regional epileptiform activity with an average representation index or regional epileptiform activity in the parietal-occipital-posterior parts with a low representation index transforms to a pattern of hypsarrhythmia. It seems appropriate to recommend that newborns with structural brain disorders, premature infants, children with multi-regional epileptiform activity, with regional epileptiform activity in the parietal-occipital-posterior parts (even low index) to be observed with regular video EEG monitoring at least once every 1-2 months, to early detect the pattern of hypsarrhythmia and West syndrome.

Introduction: early identification of neurological disorders is considered important in the assessment of risk factors and early treatment and subsequently in monitoring the child. Objective: report the lived experiences in a physiotherapy program based on high neuro‑evolutive postures in the development of the cervical and trunk control in a child diagnosed with West Syndrome, cerebral palsy and hydrocephalus. Methods: female child, chronological age of four years and five months, motor age less than three months. Kinetic and functional assessment was performed and the Gross Motor Function Measure (GMFM) and the Gross Motor Function Classification System (GMFCS) was used to characterize the subject. Results: there was an increase to 68.6% in the GMFM, maintaining the level of the GMFCS, improvement of cervical and trunk control in sitting and standing position and when were performed postural changes. Conclusion: the physiotherapeutic care proved to be beneficial in the gradual development of cervical and trunk motor control.

Circumstances of the COVID-19 pandemic have mandated a change to standard management of infantile spasms. On April 6, 2020, the Child Neurology Society issued an online statement of immediate recommendations to streamline diagnosis and treatment of infantile spasms with utilization of telemedicine, outpatient studies, and selection of first-line oral therapies as initial treatment. The rationale for the recommendations and specific guidance including follow-up assessment are provided in this manuscript. These recommendations are indicated as enduring if intended to outlast the pandemic, and limited if intended only for the pandemic health care crisis but may be applicable to future disruptions of health care delivery.

The article is devoted to the treatment and prediction of outcomes of West syndrome. The analysis of literary and own data was carried out. Was estimated the effectiveness of treatment and predicted the outcomes of the disease by data of anamnesis, seizures and the possibilities of therapy. The article presents a stepwise scheme for the treatment of West syndrome and evaluates the results of the application of various drugs, including valproic acid, vigabatrin*, levetiracetam, phenobarbital, clonazepam and topiramate. Special attention is paid to the role of hormone therapy, demonstrated its high efficiency. The most significant prognostic criteria for the outcome of this disease are identified. These criteria are based on literature and our own data. Predictors of an adverse outcome of West syndrome include: symptomatic forms of disease (structural, genetic, infectious), impaired neuropsychological development before onset of epileptic spasms, age of spasms onset more than 8 months, the presence of other seizures types in addition to epileptic spasms, the need for polytherapy of antiepileptic drugs. The pathology of pregnancy, the period of adaptation, neonatal seizures, starting therapy and the response to it are not always important in predicting remission.

Background Infantile tremor syndrome (ITS) is a nutritional deficiency syndrome, frequently reported from the Indian subcontinent caused by vitamin B12 deficiency. The West syndrome (WS), on the other hand, is a type of epileptic encephalopathy with variable etiology. Case Series We present a series of five children who presented with symptoms consistent with ITS and received standard intramuscular vitamin B12 therapy to which good response was observed. All these children were readmitted with WS with a time lag varying from 2 to 12 months. Magnetic resonance imaging brain and metabolic screen were within normal limits. Three out of five patients responded well to adrenocorticotropic hormone (ACTH), remaining two required additional drugs. We hypothesize that WS could have developed after ITS due to developmental desynchronization. Conclusion In the Indian scenario, it is particularly important to be aware of appearance of WS after ITS, because of high prevalence of ITS and devastating nature of WS.

Inherited glycosylphosphatidylinositol (GPI) deficiencies are a group of clinically and genetically heterogeneous conditions belonging to the congenital disorders of glycosylation. PIGW is involved in GPI biosynthesis and modification, and biallelic pathogenic variants in this gene cause autosomal recessive GPI biosynthesis defect 11. Only five patients and two fetuses have been reported in the literature thus far. Here we describe a new patient with a novel homozygous missense variant in PIGW, who presented with hypotonia, severe intellectual disability, early-onset epileptic seizures, brain abnormalities, nystagmus, hand stereotypies, recurrent respiratory infections, distinctive facial features, and hyperphosphatasia. Our report expands the phenotype of GPI biosynthesis defect 11 to include stereotypies and recurrent respiratory infections. A detailed and long-term analysis of the electroclinical characteristics and review of the literature suggest that early-onset epileptic seizures are a key manifestation of GPI biosynthesis defect 11. West syndrome and focal-onset epileptic seizures are the most common seizure types, and the fronto-temporal regions may be the most frequently involved areas in these patients.

West syndrome is a genetically heterogeneous electro-clinical syndrome starting in early infancy. Short-term goal of therapy is spasm control and with standard hormonal or vigabatrin treatment, spasms can be controlled in 60 to 80% of patients in 2 weeks to 3 months period. Hormonal treatment with oral steroid is an alternative therapy to injectable adrenocorticotropin hormone, especially in low resource areas. Vigabatrin is preferred in tuberous sclerosis patients. Long-term aim of treatment is sustained remission of seizures and better neurodevelopmental outcome. About 50 to 70% of children are spasm free for prolonged duration, but epilepsy with multiple seizure types including Lennox–Gastaut syndrome is evident in 20 to 40% of children in long-term follow-up. Though hypsarrhythmia is helpful for the diagnosis, prognostic role of the resolution of electroencephalographic abnormalities is still uncertain. Seizures can be controlled in 40 to 60% of the patients, but only 12 to 40% children have normal neurodevelopmental outcome and a third of children are left with severe disabilities. Children with unknown etiology and normal development at spasm onset have better clinical outcome. Young age at onset, nonstandard therapy have less favorable outcome. Surgery is helpful for spasm control in patients with structural lesions and refractory spasms even in the absence of structural lesions.

The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by microcephaly with variable degree of intellectual disability. WDR62 has been reported as the second causative gene of MCPH2. West syndrome is a severe epilepsy syndrome composed of the triad of spasms, hypsarrhythmia, and mental retardation. There are limited clinical reports regarding WDR62 mutation and West syndrome. Here we report a boy who was identified with WDR62 mutation and was followed up from age 3 months to 5 months and 14 days. He had the first seizure as the classic epileptic spasm at the age of 3 months. Psychomotor retardation was noted before the seizure occurred. The head circumference was 38.5 cm (SD 2.6) when he was 4 months old, no dysmorphic facial features were observed. He couldn’t support his head steadily or turn over. He was able to laugh when tricked by the parents, but couldn’t track the sound and light. At the early stage, the electroencephalogram showed multifocal discharges, which evolved into hypsarrhythmia one month later, and brain MRI showed developmental malformation of cerebral gyrus. Two heterozygous mutations were identified in WDR62 by whole exome sequencing c.1535G > A, p.R512Q and c.2618dupT, p.K874Qfs*40. The patient was administrated with oral sodium valproate, nitrazepam, intramuscular adrenocorticotropic hormone for 2 weeks, and followed by prednisone, levetiracetam, topiramate and vigabatrin. However, there was no significant improvement on the seizure control after these treatments. According to the genetic report and clinical manifestation, we speculated that the WDR62 compound heterozygous mutation is responsible for the serious clinical phenotype.

Congenital Zika infection has been linked with a characteristic phenotype including neurologic sequelae. However, West syndrome has not been previously well described as a consequence. We aim to show this association through a retrospective descriptive study performed in Ecuador. Among 147 infants with congenital Zika infection, 7.5% suffered from West syndrome. Vigabatrin seems to be effective to control the spasms.

In 1940, van Wagenen and Herren first proposed the corpus callosotomy (CC) as a surgical procedure for epilepsy. CC has been mainly used to treat drop attacks, which are classified as generalized tonic or atonic seizures. Epileptic spasms (ESs) are a type of epileptic seizure characterized as brief muscle contractions with ictal polyphasic slow waves on an electroencephalogram and a main feature of West syndrome. Resection surgeries, including frontal/posterior disconnections and hemispherotomy, have been established for the treatment of medically intractable ES in patients with unilaterally localized epileptogenic regions. However, CC has also been adopted for ES treatment, with studies involving CC to treat ES having increased since 2010. In those studies, patients without lesions observed on magnetic resonance imaging or equally bilateral lesions predominated, in contrast to studies on resection surgeries. Here, we present a review of relevant literature concerning CC and relevant adaptations. We discuss history and adaptations of CC, and patient selection for epilepsy surgeries due to medically intractable ES, and compared resection surgeries with CC. We propose a surgical selection flow involving resection surgery or CC as first-line treatment for patients with ES who have been assessed as suitable candidates for surgery.

Objective To evaluate the illness-related expenditure by families of children with West syndrome (WS) during the first year of illness and to explore the potential determinants of the financial drain. Methods This cross-sectional study was conducted at a tertiary care hospital between July 2018 and June 2020. Eighty-five children with WS who presented within one year from the onset of epileptic spasms were included. The details of the treatment costs (direct medical and nonmedical) incurred during the first year from the onset of epileptic spasms were noted from a parental interview and case record review. Unit cost was fixed for drugs and specific services. Total cost was estimated by multiplying the unit cost by the number of times a drug or service was availed. The determinants of the financial burden were also explored. Results The median monthly per-capita income of the enrolled families (n = 85) was INR 3000 (Q1, Q3, 2000, 6000). The median cost of treatment over one year was INR 27035 (Q1, Q3, 17,894, 39,591). Median direct medical and nonmedical expenses amounted to INR 18802 (Q1, Q3, 12,179, 25,580) and INR 6550 (Q1, Q3, 3500, 15,000), respectively. Seven families had catastrophic healthcare expenditure. Parental education and choice of first-line treatment were important determinants driving healthcare expenses. The age at onset of epileptic spasms, etiology, treatment lag, the initial response to treatment, and relapse following initial response did not significantly influence the illness-related expenditure by the families. Conclusion WS imposes a substantial financial burden on the families and indirectly on the healthcare system. Supplementary Information The online version contains supplementary material available at 10.1007/s12098-021-03761-1.

Background West syndrome is a convulsive disorder of infancy with unique seizures and a characteristic background electroencephalograph pattern. Adrenocorticotropic hormone (ACTH) is effective in spasm cessation, yet metabolic consequences of this therapeutic agent in childhood have not been published. Methods In this observational study we explored the cardiometabolic outcomes of 117 children with West syndrome (78 ACTH-treated and 39 non-ACTH-treated) monitored at a single medical center from 1995 to 2019 (median follow-up 7.2 years). Outcomes included the prevalence of cardiometabolic derangements (obesity, hypertension, and dyslipidemia) during infancy ( Results The rates of metabolic derangements during infancy in the West syndrome cohort were high compared to childhood/adolescence (obesity 27.3 % vs. 3.3 %, [p = 0.010], diastolic hypertension 48.8 % vs. 5.1 % [p p = 0.008], low high-density lipoprotein cholesterol [HDL-c] 54.2 % vs. 12.9 % [p = 0.001], and elevated triglycerides/HDL-c ratios 62.5 % vs. 12.9 % [p p = 0.008, p = 0.001, and p = 0.037, respectively), and higher triglyceride levels during early childhood (p = 0.050), with no significant group differences during childhood/adolescence. Conclusions Children with West syndrome apparently have an increased prevalence of cardiometabolic derangements more pronounced in infants and in ACTH-treated patients. These findings highlight the need to monitor these children for cardiometabolic derangements, even though these cardiometabolic abnormalities are transitory and tend to decrease with time. The health implications of cardiometabolic derangements during critical windows of growth and development warrant further investigation.

Objective There is no consensus on the type or duration of the posttreatment EEG needed for assessing treatment response for infantile spasms (IS). We assessed whether outpatient electroencephalograms (EEGs) are sufficient to confirm infantile spasms (IS) treatment response. Methods Three‐year retrospective review identified new‐onset IS patients. Only presumed responder to IS treatment at 2 weeks with a prolonged (>90 minutes) outpatient EEG to assess treatment response and at least 3‐month follow‐up were included. Hypsarrhythmia, electroclinical spasms, and sleep were evaluated for the first hour and for the duration of the EEG. Results We included 37 consecutive patients with new‐onset IS and presumed clinical response at 2 weeks posttreatment. Follow‐up outpatient prolonged EEGs (median: 150 minutes, range: 90‐240 minutes) were obtained 14 days (IQR: 13‐17) after treatment initiation. EEGs detected ongoing IS in 11 of 37 (30%) presumed early responders. Prolonged outpatient EEG had a sensitivity of 85% (confidence interval [CI] 55%‐98%) for detecting treatment failure. When hypsarrhythmia and/or electroclinical spasms were not seen, EEG had a negative predictive value 92% (CI: 75%‐99%) for confirming continued IS resolution. Outpatient EEG combined with clinical assessment, however, identified all treatment failures at 2 weeks. Compared with the entire prolonged EEG, the first‐hour recording missed IS in 45% (5/11). While sleep was captured in 95% (35/37) of the full EEG recording, the first hour of recording captured sleep in only 54% (20/37). Significance Infantile spasms treatment response can be confirmed with a clinical history of spasm freedom and an outpatient prolonged EEG without evidence for ongoing spasms (hypsarrhythmia/electroclinical spams on EEG). Outpatient prolonged EEG, but not routine EEGs, represents an alternative to inpatient long‐term monitoring for IS posttreatment EEG follow‐up.

Duchene muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, affecting ∼1:5000 male live births worldwide. DMD is a genetic disorder with X-linked recessive inheritance pattern characterized by a severe muscular phenotype with progressive muscle weakness and atrophy due to pathogenic variations within the DMD gene. Two cases are reported to date in the literature of individuals with a diagnosis of both DMD and West syndrome; neither of which had the degree of additional genetic abnormalities that our patient demonstrates. We present a male infant with West syndrome, and multiple pathogenic variants, the ominous one being in the DMD gene. This case adds to confirming that West syndrome expands the spectrum of epilepsy that may be present in DMD patients. Additionally, this case can identify how the early use of steroids may shed light on effects of early symptomatic treatment of DMD.

West syndrome is a clinical condition characterized by the combination of an abnormal EEG showing chaotic pattern called hypsarrhythmia, infantile spasms, and delayed development or loss of acquired milestones. The oral manifestations of the conditions are wide and varied ranging from poor oral hygiene, bleeding gums, periodontitis, altered chronology and delayed eruption, high arched palate and extensive caries in multiple teeth. COVID-19 has affected the provision of dental care to all, especially special child care. Henceforth with an aim towards provision of treatment for reliving pain in needful patient, the oral health management was carried out keeping in mind the current pandemic scenario and practice restrictions.

West syndrome (WS), synonymously infantile spasm or epileptic spasm, is a rare type of epileptic encephalopathy occurring at early infancy that exists with variable life expectancy. It is the most common form of epileptic encephalopathy. WS presents with spasms marked by extensor or mixed movements with distinct electroencephalogram (EEG) pattern of hypsarrhythmia, flexor and psychomotor arrest. Children with west syndrome always depict abnormal EEG, but sometimes the abnormality is seen only during sleep. The incidence of infantile spasms is found closer to 1 in 2,000 children, that typically begins between 2-12 months of age and peaks between 4-8 months of age. It is observed in otherwise healthy infants and also among infants with abnormal cognitive development. If this spasm happens in older subjects, they are preferably called "epileptic spasms" rather than infantile spasms. The goal for treatment of infantile spasms is to have complete control of spasms. Hormonal therapy with ACTH or vigabatrin is the mainstay of treatment. In spite of the development of new antiepileptic drugs (AEDs), about 35-40% of cases are drug-resistant. Children affected with the west syndrome can be cured, but a successful therapy often depends on the timely diagnosis. This case report is one evidence highlighting the treatment strategy for the west syndrome, and this could be useful for any further study regarding this topic.

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon. Infantile spasms as presentation are hitherto unreported. Here we present a rare case of an 8-month-old infant diagnosed as Joubert syndrome with ZNF423 mutation who presented with West syndrome. Early diagnosis and appropriate management of the child effectively reduced the spasms.

We report the first three Japanese patients with missense variants in the GNB1 gene. Patients exhibited severe dyskinetic quadriplegia with cortical blindness and epileptic spasms, West syndrome (but with good outcomes), and hypotonic quadriplegia that later developed into spastic diplegia. Whole-exome sequencing revealed two recurrent GNB1 variants (p.Leu95Pro and p.Ile80Thr) and one novel variant (p.Ser74Leu). A recent investigation revealed large numbers of patients with GNB1 variants. Functional studies of such variants and genotype-phenotype correlation are required to enable future precision medicine.

Automated behavior analysis are promising tools to overcome current assessment limitations in psychiatry. At 9 months of age, we recorded 32 infants with West syndrome (WS) and 19 typically developing (TD) controls during a standardized mother–infant interaction. We computed infant hand movements (HM), speech turn taking of both partners (vocalization, pause, silences, overlap) and motherese. Then, we assessed whether multimodal social signals and interactional synchrony at 9 months could predict outcomes (autism spectrum disorder (ASD) and intellectual disability (ID)) of infants with WS at 4 years. At follow-up, 10 infants developed ASD/ID (WS+). The best machine learning reached 76.47% accuracy classifying WS vs. TD and 81.25% accuracy classifying WS+ vs. WS−. The 10 best features to distinguish WS+ and WS− included a combination of infant vocalizations and HM features combined with synchrony vocalization features. These data indicate that behavioral and interaction imaging was able to predict ASD/ID in high-risk children with WS.

A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single‐center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of zonisamide. We retrospectively identified all patients with infantile spasms who were treated with zonisamide at our center. For each patient, we recorded dates of birth, infantile spasms onset, response (if any), and most recent follow‐up. To quantify zonisamide exposure, we recorded daily dosage and patient weight at each sequential encounter so as to allow calculation of peak and weighted‐average weight‐based dosage. We identified 87 children who were treated with zonisamide, of whom 78 had previously been treated with hormonal therapy or vigabatrin. Peak and weighted‐average zonisamide dosage were 7.1 (interquartile range 3.6, 10.2) and 5.4 (interquartile range 3.0, 8.9) mg/kg/day, respectively. Whereas five (6%) patients exhibited resolution of epileptic spasms, only two (2%) patients exhibited video‐EEG confirmed resolution of both epileptic spasms and hypsarrhythmia (electroclinical response). Importantly, both electroclinical responders had not previously been treated with hormonal therapy or vigabatrin; in contrast, none of the 78 children with prior failure of hormonal therapy or vigabatrin subsequently responded to zonisamide. Zonisamide was well tolerated, and there were no deaths. This study suggests that zonisamide exhibits favorable tolerability but very limited efficacy among patients who do not respond to first‐line therapy.

This article provides a review of the literature addressing the risk of complications of vaccination, including neurological complications. Several vaccines associated with the development of vaccine-induced febrile convulsions (FC), such as adsorbed diphtheria, pertussis, and tetanus vaccine and measles, mumps, and rubella (MMR) vaccine, have been shown to be able to provoke FC though they are not its cause. Thus, postponement of vaccination to later ages in children does not reduce the risk of developing FC. International and Russian recommendations for the vaccination of children with epilepsy, West syndrome, and Dravet syndrome are considered separately.

West syndrome is a severe form of childhood epilepsy associated with drug-resistant seizures and intellectual disability. The disease is characterized by specific seizures called infantile spasms, hypsarrhythmia on the electroencephalogram, and delayed psychomotor development. The identification of the disease etiology may affect the prognosis and the choice of therapy. The following prognostic factors have been described so far: etiology, abnormal neurological signs, presence of other epileptic seizures before and after epileptic spasms, response to therapy regardless of the drug type. Difficulties associated with the diagnosis of West syndrome and long-term examination in outpatient settings lead to persistence of hypsarrhythmia and worsen the prognosis. Lack of universal standards for IS therapy results in significant diffe rences in treatment outcomes observed in different regions. Despite significant efforts made towards studying West syndrome, many aspects are still poorly understood. Further studies are needed to help physicians in choosing an optimal treatment strategy and appropriate duration of follow-up as well as to improve the disease prognosis.

Objective To unveil current medical and psychosocial conditions of patients with West syndrome in Japan. Methods A cross-sectional analysis was performed in patients with West syndrome registered in the Rare Epilepsy Syndrome Registry (RES-R) of Japan. Furthermore, new-onset patients registered in the RES-R were observed prospectively and their outcomes after one and two years of follow-up were compared with data at onset. Results For the cross-sectional study, 303 patients with West syndrome were included. Seizures (such as spasms, tonic seizures and focal seizures) occurred daily in 69.3% of the patients at registration. Seizure frequency of less than one per year was observed in cases of unknown etiology (22.6%), genetic etiology (23.8%) and malformation of cortical development (MCD; 19.1%). Neurological findings were absent in 37.0%, but a high rate of abnormality was seen in patients with Aicardi syndrome, hypoxic-ischemic encephalopathy (HIE), genetic etiology and MCD other than focal cortical dysplasia, accompanied by a >50% rate of bedridden patients. Abnormal EEG was found in 96.7%, and CT/MRI was abnormal in 62.7%. Treatments included antiepileptic drug therapy (94.3%), hormonal therapy (72.6%), diet therapy (8.3%) and surgery (15.8%). Intellectual/developmental delay was present in 88.4%, and was more severe in patients with Aicardi syndrome, genetic etiology and HIE. Autism spectrum disorder was found in 13.5%. For the longitudinal study, 27 new-onset West syndrome patients were included. The follow-up study revealed improved seizure status after two years in 66.7%, but worsened developmental status in 55.6%, with overall improvement in 51.9%. Significance The study reveals the challenging neurological, physical and developmental aspects, as well as intractable seizures, in patients with West syndrome. More than a half of the children showed developmental delay after onset, even though seizures were reduced during the course of the disease.

Synaptic downscaling during sleep, a physiological process to restore synaptic homeostasis and maintain learning efficiency and healthy brain development, has been related to a reduction of the slope of sleep slow waves (SSW). However, such synaptic downscaling seems not to be reflected in high-amplitude SSW. Recently we have shown reduced SSW slopes during hormonal treatment (adrenocorticotrophic hormone, prednisolone) in patients with West syndrome (WS). Yet, whether this reduction was related to successful treatment or reflects a specific effect of hormone therapy is unknown. Thus, we retrospectively analysed nap electroencephalograms of 61 patients with WS successfully treated with hormones, vigabatrin (VGB), or both. The slope of SSW during treatment (T1) and 2-7 months later (T2) when hormonal treatment was tapered off were compared between the treatment groups and healthy, age-matched controls. At T1 hormone treatment reduced the slope of low-amplitude SSW, whereas VGB increased the slope of high-amplitude SSW (linear mixed effect model: FGroup = 7.04, p < 0.001; FAmplitude = 1,646.68, p < 0.001; FGroup*Amplitude = 3.38, p < 0.001). At T2, untreated patients did not differ anymore from healthy controls, whereas those still under VGB showed the same alterations as those with VGB at T1. This result indicates a disparate effect of VGB and hormone on the SSW slope. In particular, hormones seem to reduce the slope of cortical generated low-amplitude SSW, similar to the physiological synaptic downscaling during sleep. Thus, a loss of functional neuronal connectivity might be an alternative explanation of the antiepileptic effect of hormonal treatment.

To determine epilepsy and neurodevelopmental outcomes beyond 2 y of age and their putative prognostic factors in children with West syndrome (WS). This cross-sectional study was initiated after approval from Institutional Ethics Committee. A follow-up cohort of 114 children (aged ≥ 2 y) diagnosed and treated for WS at the authors' center were assessed in-person for epilepsy and neurodevelopmental outcomes using Vineland Social Maturity Scale - Malin’s adaptation for Indian children. Subsequently, age at onset, lead-time-to-treatment, etiology, and response to any of the standard therapies were analyzed as possible predictors of these outcomes. Of 114 children (mean age: 55 ± 32 mo, 91 boys), structural etiology was the predominant underlying etiology (79.8%) for WS. At 2 y of age, 64% had ongoing seizures. At the last follow-up, 76% had social quotient

Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene. Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy typically exhibit hypoparathyroidism, adrenocortical failure, and chronic mucocutaneous candidiasis. There are only a few case reports of autoimmune encephalitis during autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, but not as an initial manifestation. Furthermore, there are no reports of patients with infantile spasms/West syndrome with autoimmune encephalitis, partly because the median age for paediatric patients with anti-N-methyl-D-aspartate receptor encephalitis, which is the most frequent and best characterised in paediatric autoimmune encephalitides, is 13–14 years. Herein, we present a case of a 3-month-old infant with autoimmune encephalitis as an initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy who later developed infantile spasms/West syndrome.Case Presentation: A 3-month-old girl was admitted to our hospital with a fever, involuntary movements in all four limbs, and right-side facial palsy. Acute central nervous system demyelination diseases were suspected from neuroimaging findings and the presence of the cerebrospinal fluid oligoclonal band. She did not respond to multiple methylprednisolone pulse therapies and later developed infantile spasms/West syndrome and diabetes mellitus. Rituximab, a chimeric mouse/human monoclonal antibody directed against human CD20 which depletes B cells, was initially administered as a treatment for autoimmune encephalitis. Unexpectedly, this treatment resulted in complete spasm cessation and resolution of hypsarrhythmia. The patient eventually showed severely delayed developmental milestones, and her electroencephalography findings showed periodic generalised slow spike-and-wave pattern.Conclusions: Despite the limited ability to extrapolate findings from a single case, rituximab's effects may suggest that B cells play a crucial role in infantile spasms/West syndrome mechanisms; use of rituximab as an aetiology-specific treatment for infantile spasms/West syndrome patients with autoimmune encephalitis or its effectiveness for infantile spasms/West syndrome patients with other underlying mechanisms warrants further investigation.

The Aristaless-related homeobox (ARX) transcription factor is involved in the development of GABAergic and cholinergic neurons in the forebrain. ARX mutations have been associated with a wide spectrum of neurodevelopmental disorders in humans and are responsible for both malformation (in particular lissencephaly) and nonmalformation complex phenotypes. The epilepsy phenotypes related to ARX mutations are West syndrome and X-linked infantile spasms, X-linked myoclonic epilepsy with spasticity and intellectual development and Ohtahara and early infantile epileptic encephalopathy syndrome, which are related in most of the cases to intellectual disability and are often drug resistant. In this article, we shortly reviewed current knowledge of the function of ARX with a particular attention on its consequences in the development of epilepsy during early childhood.

The term infantile spasms has been used inconsistently within the medical literature for decades. We are also without formal consensus on the diagnostic criteria for West syndrome. Author-specific definitions for these terms will determine the populations studied within research studies and thus impact the relevance of the data acquired. In addition, how one defines these terms may have serious consequences for children presenting with infantile spasms such as the inappropriate withholding of standard therapy in those who fail to meet criteria for West syndrome. The overreliance on the term hypsarhythmia is particularly problematic given that many children presenting with infantile spasms will not have this classic pattern and because the determination of hypsarhythmia has poor inter-rater reliability. Herein I review historical perspectives, relying heavily on published monographs and consensus statements, and promote practical definitions and diagnostic criteria for infantile spasms and West syndrome. In an effort to encourage best clinical practice and research methodology, I include guidance for the diagnosis of infantile spasms (a seizure type) and West syndrome (an epilepsy syndrome).