Victoria Elisa Rinaldi

Neuropsychological impairment in childhood absence epilepsy: Review of the literature

AIM Childhood absence epilepsy (CAE) is a paediatric epilepsy syndrome characterized by typical absence seizures in school age children. Although it is commonly considered to have a good prognosis, with a good response to antiepileptic drugs, recent studies questioned this traditional view of a “benign” disorder, in particular regarding neuropsychological functioning. The aim of this study is to review the neuropsychological involvement in patients affected by CAE. METHODS A literature search was carried out in PubMeds and Medlines databases for all relevant studies published between 1924 and 2014. The keywords used were neuropsychology, absence seizures, and CAE. Specific review articles, systematic reviews, textbooks and case reports were examined for any further publications. RESULTS In intellectual functioning, CAE patients seem to perform worse than healthy children, even if their IQ scores fall within the normal range. Similarly, CAE seems to affect verbal skills and learning. Executive functions have been reported to be mildly impaired. Data regarding memory are still conflicting. DISCUSSION Given the neuropsychological deficits in many CAE patients which significantly affect their quality of life, CAE should not be considered entirely “benign”. An early identification of neuropsychological dysfunction in CAE children is essential for appropriate treatment.

Paediatric arterial ischemic stroke: acute management, recent advances and remaining issues

Stroke is a rare disease in childhood with an estimated incidence of 1-6/100.000. It has an increasingly recognised impact on child mortality along with its outcomes and effects on quality of life of patients and their families. Clinical presentation and risk factors of paediatric stroke are different to those of adults therefore it can be considered as an indipendent nosological entity. The relative rarity, the age-related peculiarities and the variety of manifested symptoms makes the diagnosis of paediatric stroke extremely difficult and often delayed. History and clinical examination should investigate underlying diseases or predisposing factors and should take into account the potential territoriality of neurological deficits and the spectrum of differential diagnosis of acute neurological accidents in childhood. Neuroimaging (in particular diffusion weighted magnetic resonance) is the keystone for diagnosis of paediatric stroke and other investigations might be considered according to the clinical condition. Despite substantial advances in paediatric stroke research and clinical care, many unanswered questions remain concerning both its acute treatment and its secondary prevention and rehabilitation so that treatment recommendations are mainly extrapolated from studies on adult population. We have tried to summarize the pathophysiological and clinical characteristics of arterial ischemic stroke in children and the most recent international guidelines and practical directions on how to recognise and manage it in paediatric emergency.

Pediatric migraine and episodic syndromes that may be associated with migraine

ImportanceMigraine is a common disorder and a frequent cause of medical consultation in children. Many childhood episodic syndromes have been described as common precursors of migraine.ObjectiveTo review current knowledge on migraine and childhood episodic syndromes, and to discuss future directions for research and clinical practice.FindingsFor most children it is difficult to describe a headache and fully verbalize symptoms such as photophobia and phonophobia that must be inferred from behaviour. Classical migraine features are rare before the age of 6 years, but some migraine-related syndromes have been described. Benign paroxysmal torticollis of infancy, benign paroxysmal vertigo of childhood, cyclic vomiting syndrome and abdominal migraine are currently classified as childhood episodic syndromes, and therefore common precursors of migraine. A strong association between infantile colic and migraine has recently been reported. There are similarities between children with episodic syndromes and children with migraine, regarding social and demographic factors, precipitating and relieving factors, and accompanying gastrointestinal, neurologic, and vasomotor features. The real pathophysiological mechanisms of migraine are not fully understood. Current data obtained through molecular and functional studies provide a complex model in which vascular and neurologic events cooperate in the pathogenesis of migraine attacks. Genetic factors causing disturbances in neuronal ion channels, make a migraineur more sensitive to multiple trigger factors that activate the nociception cascade. The expanding knowledge on migraine genetics and pathophysiology may be applicable to childhood episodic syndromes. Migraine preventive strategies are particularly important in children, and could be beneficial in childhood episodic syndromes. Nonspecific analgesics like ibuprofen and acetaminophen are widely used in pediatrics to control pain and have been found to be effective also in the treatment of acute migraine attacks. Triptans are the specific fist-line drugs for acute migraine treatment.Conclusions and relevanceMigraine phenotype differs somewhat in the developing brain, and childhood episodic syndromes may arise before typical migraine headache. Diagnosing pediatric migraine may be difficult because of childrens language and cognitive abilities. The risk of underestimating migraine in pediatric age is high. An adequate diagnosis is important to maintain a good quality of life and to avoid inappropriate therapy.

Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication

Our aim was to describe the clinical and electrical features and the long‐term evolution of childhood occipital epilepsy of Gastaut (COE‐G) in a cohort of patients and to compare long‐term prognosis between patients with and without other epileptic syndromes.

Association between functional gastrointestinal disorders and migraine in children and adolescents: a case-control study

BACKGROUND Functional gastrointestinal disorders and migraine are both common causes of medical attention. We have previously shown an association between migraine and infant colic. In this case-control study, we aimed to establish whether there is an association between migraine and other functional gastrointestinal disorders in children and adolescents. METHODS We included children and adolescents aged 6-17 years presenting to the emergency department of four tertiary hospitals in France and Italy. Patients diagnosed with either migraine or tension-type headache by the hospitals paediatric neurologist were enrolled as cases. Patients presenting to the emergency department with minor trauma and no history of recurrent headache were enrolled as controls. Investigators masked to a patients group allocation diagnosed functional gastrointestinal disorders using the Rome III diagnostic criteria. Univariable and multivariable analyses were done to identify specific disorders and baseline factors associated with migraines and tension-type headache. FINDINGS Between Nov 1, 2014, and Jan 31, 2015, we enrolled 648 controls and 424 cases (257 patients with migraine and 167 with tension-type headache). 83 (32%) children and adolescents in the migraine group were diagnosed with functional gastrointestinal disorders compared with 118 (18%) in the control group (p<0·0001). Multivariable logistic regression showed a significant association between migraine and three gastrointestinal disorders: functional dyspepsia (odds ratio 10·76, 95% CI 3·52-32·85; p<0·0001), irritable bowel syndrome (3·47, 1·81-6·62; p=0·0002), and abdominal migraine (5·87, 1·95-17·69; p=0·002). By contrast, there was an inverse association between migraine and functional constipation (0·34, 0·14-0·84, p=0·02). 41 (25%) participants with tension-type headache had functional gastrointestinal disorders, which did not significantly differ from the prevalence of these disorders in the control group (p=0·07); no significant association was noted between any functional gastrointestinal disease and tension-type headaches. INTERPRETATION Three abdominal-pain-related functional gastrointestinal disorders were associated with migraine in children and adolescents. These findings are of value to the diagnosis and management of these common diseases. Future studies should investigate whether antimigraine drugs are of benefit in functional gastrointestinal disorders. FUNDING None.

Childhood absence epilepsy and benign epilepsy with centro-temporal spikes: a narrative review analysis

BackgroundRecent studies have shown a possible coexistence of absence seizures with other forms of epilepsy. The purpose of this study was to ascertain the possible contemporary or subsequent presence of childhood absence epilepsy (CAE) and benign epilepsy with centro-temporal spikes (BECTS) in pediatric epileptic patients.Data sourcesA PubMed systematic search indexed for MEDLINE, PubMed and EMBASE was undertaken to identify studies in children including articles written between 1996 and 2015. Retrospective studies, meta-analysis and case reports were included. The list of references of all the relevant articles was also studied. The date of our last search was December 2015.ResultsReview of the literature revealed 19 cases, 8 females and 11 males, reporting a consecutive or contemporary coexistence of CAE and BECTS within the same patients. Patient’s age ranged between 4 and 12 years. Three out of 19 patients presented concomitant features of both syndromes, whereas 16 patients experienced the two syndromes at different times.ConclusionsBECTS and CAE may be pathophysiologically related, and the two epileptic phenotypes may indicate a neurobiological continuum. Further studies are needed to elucidate a probable genetic or functional link between partial and primarily generalized electro-clinical patterns in idiopathic childhood epilepsies.

Secondary involvement of Meckel’s diverticulum by group A β-hemolytic streptococcus in a child with upper airways infection treated by laparoscopic-assisted resection

We report a case of a 5-year-old boy with acute abdomen following an upper airways infection who developed Meckel’s diverticulum perforation secondary to group A &bgr;-hemolytic streptococcus and its successful treatment by a laparoscopic-assisted intervention. To the best of our knowledge, such an event has never been reported previously.

Coexistence of childhood absence epilepsy and benign epilepsy with centrotemporal spikes: A case series

AIM Childhood absence epilepsy (CAE) and benign childhood epilepsy with centrotemporal spikes (BECTS) are the most common forms of childhood epilepsy. Recent studies in animal models suggest that the two phenotypes may represent a neurobiological continuum. Although the coexistence of CAE and BECTS has been reported, this issue remains controversial. The purpose of this study was to analyse the electro-clinical characteristics of a group of children with contemporary or subsequent features of absence seizures and focal seizures consistent with BECTS. MATERIAL AND METHODS A systematic record review from 8 epilepsy centres was used to identify 11 subjects, 5 females and 6 males, with electro-clinical documented consecutive or contemporary coexistence of CAE and BECTS. RESULTS Patients age ranged between 7.8 and 17.3 years. Four out of 11 patients presented concomitant features of both syndromes, whereas the remaining 7 experienced the two syndromes at different times. CONCLUSIONS Although CAE and BECTS are clearly defined syndromes and considered very different in terms of their pathophysiology, they share some features (such as similar age of onset, overall good prognosis), and can occur in the same patient. The long term prognosis of these patients seems to be good with an excellent response to anticonvulsant therapy.

Neuropsychological profiles and outcomes in children with new onset frontal lobe epilepsy.

Frontal lobe epilepsy (FLE) is the second most frequent type of localization-related epilepsy, and it may impact neurocognitive functioning with high variability. The prevalence of neurocognitive impairment in affected children remains poorly defined. This report outlines the neuropsychological profiles and outcomes in children with new onset FLE, and the impact of epilepsy-related factors, such as seizure frequency and antiepileptic drug (AED) load, on the neurocognitive development. Twenty-three consecutive children (15 males and 8 females) with newly diagnosed cryptogenic FLE were enrolled; median age at epilepsy onset was 7 years (6-9.6 years). They underwent clinical and laboratory evaluation and neuropsychological assessment before starting AED treatment (time 0) and after one year of treatment (time 1). Twenty age-matched patients affected by idiopathic generalized epilepsy (10 male and 10 females) and eighteen age-matched healthy subjects (9 males and 9 females) were enrolled as controls and underwent the same assessment. All patients with FLE showed a significant difference in almost all assessed cognitive domains compared with controls, mainly in frontal functions and memory. At time 1, patients were divided into two groups according to epilepsy-related factors: group 1 (9 patients) with persisting seizures despite AED polytherapy, and group 2 (14 patients) with good seizure control in monotherapy. A significant difference was highlighted in almost all subtests in group 1 compared with group 2, both at time 0 and at time 1. In children with FLE showing a broad range of neurocognitive impairments, the epilepsy-related factors mostly related to a worse neurocognitive outcome are poor seizure control and the use of AED polytherapy, suggesting that epileptic discharges may have a negative impact on the functioning of the involved cerebral regions.

Massive pyuria as an unusual presentation of giant infected urachal remnant in a child

Urachal remnants (URs) are manifestations of an incomplete regression of the urachus; therefore, there may be different types of remnants such as cyst, sinus tract, diverticulum or patent urachus. The clinical presentation of a urachal anomaly includes umbilical discharge, lower abdominal pain and urinary tract infection, although a UR may also be asymptomatic. We present the case of a 2.5-year-old girl who presented with abdominal pain, stranguria and massive pyuria in which a giant infected UR was found. The diagnosis was made using abdominal MRI. The child was subjected to laparoscopic-assisted drainage and had an uneventful postoperative course.