Search results for "AUTISM SPECTRUM DISORDERS"
showing 10 items of 41 documents
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
2013
AM Vicente - Cross-Disorder Group of the Psychiatric Genomics Consortium Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in …
Cancer and central nervous system disorders: protocol for an umbrella review of systematic reviews and updated meta-analyses of observational studies
2017
[Background] The objective of this study will be to synthesize the epidemiological evidence and evaluate the validity of the associations between central nervous system disorders and the risk of developing or dying from cancer.
Risk of mortality among children, adolescents, and adults with autism spectrum disorder or attention deficit hyperactivity disorder and their first-d…
2017
BACKGROUND: Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are childhood onset neurodevelopmental disorders that may persist into adulthood. ASD and ADHD tend to run in families and may have a significant negative impact on the health and longevity of those with the disorder and their relatives. The aim of this study will be to analyze the risk of mortality among children, adolescents, and adults with ASD or ADHD and their first-degree relatives. METHODS/DESIGN: We will conduct a systematic review and meta-analysis of observational studies. Searches of PubMed/MEDLINE, EMBASE, PsycINFO, SCOPUS, and ISI Web of Science will be used to identify epidemiologica…
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.
2022
This study was aimed to analyze the commonalities and distinctions of voltage-gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same genetic variants reported in the literature. The clinical features of one of them argued for autism spectrum disorder and developmental delay, the other for intellectual disability, diagnoses confirmed by the neuropsychological assessment. The first patient was a carrier of SCN2A (p.…
Neurobiological foundations of multisensory processing integration in people with autism spectrum disorders: The role of the medial prefrontal cortex
2014
This review aims to relate the sensory processing problems in people with Autism spectrum disorders (ASD), especially Multisensory interaction (MSI), to the role of the medial prefrontal cortex (mPFC) by exploring neuroanatomical findings; brain connectivity and Default Network (DN); global or locally directed attention; and temporal multisensory binding. The mPFC is part of the brain’s DN, which is deactivated when attention is focused on a particular task and activated on rest when spontaneous cognition emerges. In those with ASD, it is hypoactive and the higher the social impairment the greater the atypical activity. With an immature DN, cross-modal integration is impaired, resulting in …
Noli Me Tangere: Social Touch, Tactile Defensiveness, and Communication in Neurodevelopmental Disorders
2019
Tactile defensiveness is a common feature in neurodevelopmental disorders (NDDs). Since the first studies, tactile defensiveness has been described as the result of an abnormal response to sensory stimulation. Moreover, it has been studied how the tactile system is closely linked to socio-communicative development and how the interoceptive sensory system supports both a discriminating touch and an affective touch. Therefore, several neurophysiological studies have been conducted to investigate the neurobiological basis of the development and functioning of the tactile system for a better understanding of the tactile defensiveness behavior and the social touch of NDDs. Given the lack of rece…
Sensory perception in preschool children affected by autism spectrum disorder: A pilot study
2017
Introduction: Autism spectrum disorder (ASD) is a behavioral syndrome caused by a developmental disorder, biologically determined, with onset in the first three years of life. The areas concerned are mainly those related to social communication, social interaction and mutual functional and symbolic play. In the last decades, different conceptions of autism have taken, also emphasizing different sensory-perceptual abnormalities as the basis of the central features of disorder. This pilot study intends to address the issue of sensory perception in preschool children affected by ASD. Material and methods: 11 ASD children were enrolled (7 males, 4 female) aged between 2.3 years and 4.6 years, (…
Sleep habits in children affected by autism spectrum disorders: A preliminary case-control study
2017
Introduction: The core of autism spectrum disorders (ASD) consists of alterations of neurological functions that affect the typical developmental trajectory leading to deficits in social interaction and non-verbal behaviors. In general, ASD is diagnosed at age three and many other frequent neurological signs may be present, such as sleep disorders. The aim of study is evaluating sleep habits in a sample of ASD children. Material and methods: The study population consists of 65 ASD children (43 males and 22 females), aged between 2 and 11 years (mean 5.73 ± 2.39 years). The control group consists of 114 children with typical development (68 males and 46 females), aged between 3 and 10 years …
Autonomic Regulation In Autism Spectrum Disorders
2017
Introduction: The sinactive developmental model provides suggests a different way for the brain study by observing the children behavior. In all neurodevelopmental disorders, we can observe autonomic alteration comprising sleep disorders, meal behaviour alteration and self-regulatory impairment. These alterations/impairment are very frequent in autism spectrum disorders (ASD) (1-12). Aim of the present preliminary study is the assessment of metabolic rate in children affected by ASD. Material s and methods. 5 males affected by ASD aged 7-10 years (mean age 6.73±3:39), were recruited. The average score at the ADOS scale was 12.24 (SD± 3.29). The control group consisted of 5 males typically d…
Copy number variations in the etiology of autism spectrum disorders
2013
Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by qualitative impairment in social interaction and communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. They have a multifactorial etiology, but today different studies are showing the central role of genetics. Different genetic alterations were detected: chromosomal abnormalities, mutations, trinucleotide repeats and copy number variations (CNVs). Several studies identified many CNVs associated with ASDs and possible candidate genes, whose loss or gain could have a key role in the etiopathogenesis of these disorders. In particular, t…