Joint attention effect on irrelevant stimuli resistance in high functional autism and neurotypical adults.

Background And Objectives: Clinical practice reveals that individuals with autism characterized by the absence of cognitive impairment (High Functioning Autism-HFA) show difficulty in sharing attention with unfamiliar people. We hypothesized that this difficulty could affect cognitive control by selectively impairing stimulus-encoding or response-selection.

Methods: Twenty-one HFA and 23 neurotypical adults were involved in a two-phase study.

Transcriptional activity of human endogenous retrovirus in Albanian children with autism spectrum disorders.

Recent studies suggest that autism spectrum disorders (ASD) result from interactions between genetic and environmental factors, whose possible links could be represented by epigenetic mechanisms. Here, we investigated the transcriptional activity of three human endogenous retrovirus (HERV) families, in peripheral blood mononuclear cells (PBMCs) from Albanian ASD children, by quantitative real-time PCR. We aimed to confirm the different expression profile already found in Italian ASD children, and to highlight any social and family health condition emerging from information gathered through a questionnaire, to be included among environmental risk factors.

[Executive function deficits in ADHD and Asperger syndrome].

Background: The aim of this study is to evaluate the executive functioning of children with attention deficit hyperactivity disorder combined subtype (ADHD-C) and Asperger syndrome (AS) compared to a control group.

Methods: A sample of 79 children (28 ADHD-C; 24 AS; 27 subjects with typical development) was tested on a wide range of tasks related to major domains of executive functioning: inhibition response (prepotent and interference), visual working memory, planning and cognitive flexibility.

Results: Patients with AS showed deficits on visual working memory and cognitive flexibility.

HERVs expression in Autism Spectrum Disorders.

Background: Autistic Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder, resulting from complex interactions among genetic, genomic and environmental factors. Here we have studied the expression of Human Endogenous Retroviruses (HERVs), non-coding DNA elements with potential regulatory functions, and have tested their possible implication in autism.

Methods: The presence of retroviral mRNAs from four HERV families (E, H, K and W), widely implicated in complex diseases, was evaluated in peripheral blood mononuclear cells (PBMCs) from ASD patients and healthy controls (HCs) by qualitative RT-PCR.

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.

Candidate gene study of HOXB1 in autism spectrum disorder.

Background: HOXB1 plays a major role in brainstem morphogenesis and could partly determine the cranial circumference in conjunction with HOXA1. In our sample, HOXA1 alleles significantly influence head growth rates both in autistic patients and in population controls. An initial report, suggesting that HOXB1 could confer autism vulnerability in interaction with HOXA1, was not confirmed by five small association studies.

Syndromic autism: causes and pathogenetic pathways.

Background: Autism is a severe neurodevelopmental disorder known to have many different etiologies. In the last few years, significant progresses have been made in comprehending the causes of autism and their multiple impacts on the developing brain. This article aims to review the current understanding of the etiologies and the multiple pathogenetic pathways that are likely to lead to the autistic phenotype.

Attention and executive functions profile in drug naive ADHD subtypes.

Attention deficit hyperactivity disorder (ADHD) has been associated with executive functioning and sustained and divided attention deficits. In order to clarify the questions on neurocognitive impairment in ADHD, we investigated the presence of specific executive functions (EFs) and attention deficit patterns in ADHD clinical subtypes. 50 patients with ADHD and 44 controls were evaluated.