Neuropsychological and behavioral profiles of self-limited epileptic syndromes of childhood: a cross-syndrome comparison.

Childhood epilepsy with centro-temporal spikes (CECTS), Childhood absence epilepsy (CAE) and Panayiotopoulos syndrome (PS) are some of the most common pediatric epileptic syndromes. Despite the relatively benign (self-limited) course of epilepsy, current evidence suggests that these conditions are associated with an increased risk of neuropsychological and behavioral comorbidities. This study provides a cross-epileptic syndromes' comparison reporting on the cognitive and behavioral profile of a cohort of 32 children with CECTS (n = 14), CAE (n = 10) and PS (n = 8), aged 6 to 15 years old. Frequent, although often subclinical cognitive difficulties involving attention, executive functions and academic abilities were found in children with CECTS and CAE, and to a lesser extent in PS. Internalizing symptoms (particularly anxiety) were more common in the PS group compared to CECTS and CAE based on parental reports. Correlational analysis revealed a significant correlation between phonemic fluency and seizure-free interval at the time of evaluation, suggesting a beneficial effect of epilepsy remission on this executive function measure in all the three groups. These results add to existing literature providing further detail on neuropsychological and behavioral peculiarities of children with CECTS, CAE, and PS. Moreover, the need for neuropsychological assessment as part of the standard childhood epilepsy evaluation is stressed. The results are discussed in the context of the current literature, highlighting areas of consensus and controversies related to the clinical management of these epileptic syndromes as well as directions for future research.

Implicit cognitive flexibility in self-limited focal epilepsy of childhood: An HD-EEG study.

Self-limited focal epilepsy of childhood (SFEC) is often related to mild impairments in several neuropsychological domains, including cognitive flexibility, which is generally considered a process requiring volition and attention. However, recent evidence showed that it can be implicitly adjusted exploiting simple 'stimulus-response' associations as for example, the probability of the stimulus occurrence. Here, we evaluated the capability to implicitly extract environmental patterns of regularities and use them to flexibly adjust proactive control motor control. We tested 21 children with epilepsy (total IQ > 80; 13 with Childhood epilepsy with centro-temporal spikes, 8 with Panayiotopoulos syndrome (PS); 5-13 years old) compared to a healthy age-matched control group (32 participants). We used the Dynamic Temporal Prediction (DTP) task to investigate how behavioral performance is implicitly shaped by the manipulation of the stimulus occurrence probability over time. We recorded EEG to identify neural markers to differentiate the two groups. SFEC group showed a reduction in accuracy (p = .0013) and response speed (p < .001) as well as an absence of response adjustment (p = .65) in relation to the implicit changes in stimulus probability occurrence, in comparison to the control group. The epilepsy group performance in the DTP showed a significant correlation with the phonemic fluency (r = -0.50) and the Perseverations index of the CPT test (r = 0.53). Finally, children with SFEC did not show the modulation of the contingent negative variation (CNV) evoked potential. Overall, children with SFEC showed poor implicit flexibility compared to a control group. This pattern is individually related to high-level executive function, suggesting to extend neuropsychological assessment to the implicit domain.

First Attack and Clinical Presentation of Hemiplegic Migraine in Pediatric Age: A Multicenter Retrospective Study and Literature Review.

Background: Data on clinical presentation of Hemiplegic Migraine (HM) are quite limited in the literature, particularly in the pediatric age. The aim of the present study is to describe in detail the phenotypic features at onset and during the first years of disease of sporadic (SHM) and familial (FHM) pediatric hemiplegic migraine and to review the pertinent literature. Results: Retrospective study of a cohort of children and adolescents diagnosed with hemiplegic migraine, recruited from 11 Italian specialized Juvenile Headache Centers. Forty-six cases (24 females) were collected and divided in two subgroups: 32 SHM (16 females), 14 FHM (8 females). Mean age at onset was 10.5 ± 3.8 y (range: 2-16 y). Mean duration of motor aura was 3.5 h (range: 5 min-48 h). SHM cases experienced more prolonged attacks than FHM cases, with significantly longer duration of both motor aura and of total HM attack. Sensory (65%) and basilar-type auras (63%) were frequently associated to the motor aura, without significant differences between SHM and FHM. At follow-up (mean duration 4.4 years) the mean frequency of attacks was 2.2 per year in the first year after disease onset, higher in FHM than in SHM cases (3.9 vs. 1.5 per year, respectively). A literature review retrieved seven studies, all but one were based on mixed adults and children cohorts. Conclusions: This study represents the first Italian pediatric series of HM ever reported, including both FHM and SHM patients. Our cohort highlights that in the pediatric HM has an heterogeneous clinical onset. Children present fewer non-motor auras as compared to adults and in some cases the first attack is preceded by transient neurological signs and symptoms in early childhood. In SHM cases, attacks were less frequent but more severe and prolonged, while FHM patients had less intense but more frequent attacks and a longer phase of active disease. Differently from previous studies, the majority of our cases, even with early onset and severe attacks, had a favorable clinical evolution.

Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association.

BACKGROUND: Moyamoya syndrome represents an etiologically heterogeneous cerebral evolutive angiopathy. It can be associated with both well-characterized and recently described genetic conditions with mendelian inheritance. CASE REPORT: We report the case of a moyamoya angiopathy in a prematurely born girl affected by congenital heart defect, mild facial dysmorphism, mild neurodevelopmental delay and borderline cognitive profile, associated to a de novo complex rearrangement involving the terminal segment of the short arm of chromosome 6. CONCLUSION: To the best of our knowledge, this is the second case described of pediatric moyamoya syndrome associated with a 6p complex rearrangement. Adding this case to the pertinent literature, we discuss the pathogenic role of rearrangements in 6p region in moyamoya syndrome and suggest to investigate in this region potential genes involved in angiogenesis or vascular homeostasis.