Publications by authors named "Alessandrelli R"
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.
View Article and Find Full Text PDFBackground: 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.
Article Synopsis
- Autistic Spectrum Disorder (ASD) is influenced by genetic and environmental factors, and this study examines the role of Human Endogenous Retroviruses (HERVs) in autism.
- Researchers evaluated the expression of specific HERV families (E, H, K, W) in blood samples from ASD patients and healthy controls, finding higher levels of HERV-H and HERV-W in patients.
- The study suggests a unique expression pattern of HERVs in individuals with ASD and emphasizes the need for further research on HERV-H's role in the disorder.
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.
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- HOXB1 is important for brainstem development and may work with HOXA1 to influence head size and growth rates in both autistic individuals and controls.
- Researchers analyzed HOXB1 in a sample of 269 autistic individuals, focusing on genetic variants to see if they were linked to autism.
- They identified several common and rare genetic variants, but the common variants did not show an association with autism, while rare variants were found in a couple of families, suggesting a more complex inheritance pattern.
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.
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- Autism is a complex neurodevelopmental disorder with various causes, impacting brain development in unique ways.
- Genetic factors, metabolic diseases, and chromosomal abnormalities contribute to autism, but they explain less than 20% of cases.
- Ongoing research is crucial for identifying more specific etiologies, improving diagnosis, and enhancing understanding of autism's neurological underpinnings.
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.
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