Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as "West syndrome", new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances.

Background and purposeCongenital talipes equinovarus (clubfoot) can present in 2 forms: “syndromic”, in which other malformations exist, and the more common “idiopathic” form, where there are no other associated malformations. We analyzed the epidemiology of congenital talipes equinovarus in the Sicilian population, looking for potential etiological factors.Patients and methodsAmong the 801,324 live births recorded between January 1991 and December 2004, 827 cases were registered (560 males; M/F sex ratio: 2.1). Control infants were randomly selected from a historical cohort of live births without any major congenital malformations.ResultsA positive family history of clubfoot, gender, and maternal smoking were found to be risk factors for clubfoot. Patients with clubfoot were born most frequently during the period January–March. No association was found between clubfoot and reproductive history, peri-conceptional maternal drug exposure, maternal education, or ethnicity.InterpretationOur findings emphasize the importance of birth defects surveillance programs and their usefulness in investigating potential risk factors.

Graph theoretical studies have been designed to investigate network topologies during life. Network science and graph theory methods may contribute to a better understanding of brain function, both normal and abnormal, throughout developmental stages. The degree to which childhood epilepsies exert a significant effect on brain network organisation and cognition remains unclear. The hypothesis suggests that the formation of abnormal networks associated with epileptogenesis early in life causes a disruption in normal brain network development and cognition, reflecting abnormalities in later life. Neurological diseases with onset during critical stages of brain maturation, including childhood epilepsy, may threaten this orderly neurodevelopmental process. According to the hypothesis that the formation of abnormal networks associated with epileptogenesis in early life causes a disruption in normal brain network development, it is then mandatory to perform a proper examination of children with new-onset epilepsy early in the disease course and a deep study of their brain network organisation over time. In regards, graph theoretical analysis could add more information. In order to facilitate further development of graph theory in childhood, we performed a systematic review to describe its application in functional dynamic connectivity using electroencephalographic (EEG) analysis, focussing on paediatric epilepsy.

BackgroundAt the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment. Seizure disorders starting in early life include the “epileptic encephalopathies”, a group of conditions characterized by drug resistant seizures, delayed developmental skills, and intellective disability. This group of disorders includes early infantile epileptic encephalopathy also known as Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, infantile spasms syndrome (also known as West syndrome), severe myoclonic epilepsy in infancy (also known as Dravet syndrome) and, myoclonic encephalopathies in non-progressive disorder.Here we report on seizures manifesting in the first year of life including the neonatal period. Conditions with a benign course, and those with severe evolution are presented. At this early age, clinical identification of seizures, distinction of each of these disorders, type of treatment and prognosis is particularly challenging.The aim of this report is to present the clinical manifestations of each of these disorders and provide an updated review of the conditions associated with seizures in the first year of life.