Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes.

The integrin-β 3 gene (ITGB3), located on human chromosome 17q21.3, was previously identified as a quantitative trait locus (QTL) for 5-HT blood levels and has been implicated as a candidate gene for autism spectrum disorder (ASD). We performed a family-based association study in 281 simplex and 12 multiplex Caucasian families.

Education in child neurology: the role of the International Child Neurology Association (ICNA).

Recent progress in pediatric neurosciences has greatly increased the divide between the possibilities for diagnosis and intervention among developed countries and resource-poor countries, where child neurologists suffer from the lack of adequate training, the absence of a network with professionals around the world, and the shortage of infrastructure. The International Child Neurology Association (ICNA) is the only child neurology association that can deal with these important issues and promote the reduction of this gap. In this article, the author reviews the role played by ICNA in the past 2 decades in supporting education worldwide, in offering teaching seminars and visits by senior members, and in addressing the needs of the global community of child neurologists.

Rufinamide in children and adults with Lennox-Gastaut syndrome: first Italian multicenter experience.

This is the first multicenter Italian experience with rufinamide as an adjunctive drug in children, adolescents and adults with Lennox-Gastaut syndrome. The patients were enrolled in a prospective, add-on, open-label treatment study from 11 Italian centers for children and adolescent epilepsy care. Forty-three patients (26 males, 17 females), aged between 4 and 34 years (mean 15.

Principal pathogenetic components and biological endophenotypes in autism spectrum disorders.

Autism is a complex neurodevelopmental disorder, likely encompassing multiple pathogenetic components. The aim of this study is to begin identifying at least some of these components and to assess their association with biological endophenotypes. To address this issue, we recruited 245 Italian patients with idiopathic autism spectrum disorders and their first-degree relatives.

Comorbidity of ADHD and dyslexia.

Comorbidity of attention deficit hyperactivity disorder (ADHD) and reading disorder (RD) is frequent. Comorbid subjects show a neuropsychological profile characterized by failure of various cognitive functions with an additive-effect that can determine more severe functional deficits. Comorbid RD may be a marker for a group of children with ADHD with more severe cognitive deficits, and a worse neuropsychological, academic, and behavioral outcome.

Benign childhood epilepsy with centrotemporal spikes and the multicomponent model of attention: a matched control study.

Although the high risk of cognitive impairments in benign childhood epilepsy with centrotemporal spikes (BCECTS) is now well established, there is no clear definition of a uniform neurocognitive profile. This study was based on a neuropsychological model of attention that assessed various components of attention in 21 children with BCECTS and 21 healthy children. All participants were tested with a computerized test battery using the multicomponent model of attention performance.

Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis.

The goal of the study was to assess the long-term seizure and neuropsychologic outcomes of patients with tuberous sclerosis and refractory epilepsy who received vagus nerve stimulator implantation. Eleven patients with a follow-up period of at least 12 months were studied retrospectively. The mean age at the time of implantation was 14 years (range, 2-35).

Recurrent cutaneous abscesses in two Italian family members.

Environmental mycobacteria are the causative factors of an increasing number of infections worldwide. Cutaneous infections as a result of such mycobacteria are often misdiagnosed, and their treatment is difficult since they can show in vivo and in vitro multidrug resistance. Absence of pathognomonic clinical signs and variable histological findings often delay diagnosis.

Rufinamide in refractory childhood epileptic encephalopathies other than Lennox-Gastaut syndrome.

Background: To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome.

Methods: Thirty-eight patients (19 males, 19 females), aged between 4 and 34 (mean 13.7 ± 8.

ADHD and genetic syndromes.

A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms.

Decreased serum arylesterase activity in autism spectrum disorders.

The PON1 gene, previously found associated with autism spectrum disorders (ASDs), encodes a serum protein responsible for the detoxification of organophosphates (OPs) and able to exert several enzymatic activities. PON1 arylesterase, but not diazoxonase activity, was significantly decreased in 174 ASD patients compared to 175 first-degree relatives and 144 controls (P=2.65×10⁻¹⁶).

Levetiracetam in childhood epilepsy.

Levetiracetam is an antiepileptic drug that has been shown to be effective in various types of seizures, both partial and generalized. Although it is not yet well established because of the small number of studies, levetiracetam as both add-on therapy and monotherapy can be considered as an alternative to valproic acid in some pediatric patients. We have reviewed the available data on the efficacy, tolerability, and safety of levetiracetam in children with epilepsy.

The relationship between sleep and epilepsy: the effect on cognitive functioning in children.

Aim: The purpose of this review was to examine the possible pathophysiological links between epilepsy, cognition, sleep macro- and microstructure, and sleep disorders to highlight the contributions and interactions of sleep and epilepsy on cognitive functioning in children with epilepsy.

Method: PubMed was used as the medical database source. No language restriction was placed on the literature searches, and citations of relevant studies in the paediatric age range (0-18 y) were checked.

Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges.

Background: In tuberous sclerosis complex (TSC), a substantially increased risk of developing epilepsy is present as a result of a disruption of a TSC gene expression in the brain and secondary abnormal cellular differentiation, migration, and proliferation. Dysregulated excitation probably has its roots in the disruption of GABAergic interneuron development. There is an age-dependent electroclinical expression of seizures, and epilepsy is often quite severe and unremitting.

Preterm birth and neurodevelopmental outcome: a review.

Background: The incidence of preterm delivery and the survival rate of preterm newborns are rising, due to the increased use of assisted reproductive technology associated with multiple gestations and improved technology in obstetrics and neonatology, which allow saving preterm infants at earlier gestational ages. As a consequence, the risk of developmental disabilities in preterm children is high, and clinical pictures need to be fully defined.

Methods: Narrative review including articles regarding neurodevelopmental disorders published in the international medical literature and reported in PubMed between the years 2000 and January 2010.

Conceptual and methodological challenges for neuroimaging studies of autistic spectrum disorders.

Autistic Spectrum Disorders (ASDs) are a set of complex developmental disabilities defined by impairment in social interaction and communication, as well as by restricted interests or repetitive behaviors. Neuroimaging studies have substantially advanced our understanding of the neural mechanisms that underlie the core symptoms of ASDs. Nevertheless, a number of challenges still remain in the application of neuroimaging techniques to the study of ASDs.

Autism spectrum disorders in tuberous sclerosis: pathogenetic pathways and implications for treatment.

Autism spectrum disorders have been reported as being much more frequent in individuals with tuberous sclerosis than in the general population. Previous studies have implicated early seizure onset and the localization of cortical tubers in the temporal lobes as risk factors for autism. However, the underlying reasons for this association remain largely unclear.

Slow EEG amplitude oscillations during NREM sleep and reading disabilities in children with dyslexia.

Study Objectives: To analyze non-rapid eye movement (NREM) sleep microstructure of children with dyslexia, by means of cyclic alternating pattern (CAP) analysis and to correlate CAP parameters with neuropsychological measures.

Design: Cross-sectional study using polysomnographic recordings and neuropsychological assessments.

Setting: Sleep laboratory in academic center.

"Idiopathic" mental retardation and new chromosomal abnormalities.

Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recognizable syndromic conditions that are herein reviewed.

Association of syndromic mental retardation and autism with 22q11.2 duplication.

We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication.

Recent advances in the pathogenesis of syndromic autisms.

Background. Current advances in genetic technology continue to expand the list of medical conditions associated with autism. Clinicians have to identify specific autistic-related syndromes, and to provide tailored counseling.