Autis* OR Asperger

Mental illness and cognitive disorders represent a serious problem for the modern society. Many studies indicate that mental disorders are polygenic and that impaired brain development may lay the ground for their manifestation. Neural tissue development is a complex and multistage process that involves a large number of distant and contact molecules. In this review, we have considered the key steps of brain morphogenesis, and the major molecule families involved in these process. The review provides many indications of the important contribution of the brain development process and correct functioning of certain genes to human mental health...

BACKGROUND: Patients with autism spectrum disorders (ASD) experience higher rates of perioperative anxiety and are likely to receive premedication. Little is known about nonpharmaceutical interventions which may decrease anxiety. This study aims to evaluate the use of an adaptive sensory environment (ASE) to reduce ASD patient anxiety during the perioperative process. METHODS: Our feasibility study (ClinicalTrials.govNCT04994613) enrolled 60 patients in two parallel groups randomized to a control (no ASE) or intervention group (ASE)...

Motor dysfunction is increasingly being viewed as a core characteristic of autism spectrum disorder (ASD) in children. In particular, children with ASD have difficulty in learning new motor skills and there is a need to develop effective methods to improve this. Previous research has found that children with ASD may retain the ability to implicitly learn motor skills in comparison to their explicit learning of motor skills, which is typically impaired. This literature mini review focuses on summarizing the study of implicit learning in the acquisition of motor skills in children with ASD...

Genetic variants linked to autism are thought to change cognition and behaviour by altering the structure and function of the brain. Although a substantial body of literature has identified structural brain differences in autism, it is unknown whether autism-associated common genetic variants are linked to changes in cortical macro- and micro-structure. We investigated this using neuroimaging and genetic data from adults (UK Biobank, N = 31,748) and children (ABCD, N = 4,928). Using polygenic scores and genetic correlations we observe a robust negative association between common variants for autism and a magnetic resonance imaging derived phenotype for neurite density (intracellular volume fraction) in the general population...

PURPOSE: There is a need for valid and reliable clinical assessment tools to assess cardiorespiratory fitness (CRF) levels in adolescents with autism. Therefore, this study aimed to examine the concurrent validity and test-retest reliability of the Astrand-Rhyming Test (ART) in this population. MATERIALS AND METHODS: 45 adolescents with autism aged 12-18 years ( n  = 32 males, 14.47 ± 1.79 years) performed the ART twice (test-retest reliability) and completed a maximal cardiopulmonary exercise test (CPET) (concurrent validity)...

INTRODUCTION: Recent studies have highlighted the prognostic value of easily accessible inflammatory markers, neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR) for predicting severe outcomes in patients affected by Coronavirus disease 2019 (COVID-19). Our study validates NLR and PLR cut-off values from a prior cohort at IRCCS Policlinico San Matteo (OSM) of Pavia, Italy, across two new cohorts from different hospitals. This aims to enhance the generalizability of these prognostic indicators...

BACKGROUND: Autism self-advocates' views regarding genetic tests for autism are important, but critical questions about their perspectives arise. METHODS: We interviewed 11 autism self-advocates, recruited through autism self-advocacy websites, for 1 h each. RESULTS: Interviewees viewed genetic testing and its potential pros and cons through the lens of their own indiviudal perceived challenges, needs and struggles, especially concerning stigma and discrimination, lack of accommodations and misunderstandings from society about autism, their particular needs for services, and being blamed by others and by themselves for autistic traits...

Autistic people frequently experience negative judgements from non-autistic people, often fuelled by misconceptions that autistic people lack empathy. Understanding responses to negative social judgement among autistic people is crucial because of the potential negative impact on wellbeing and future interactions. We investigated the role of autistic traits, social anxiety, and depression on behavioural indices of social rejection in 20 autistic (AUT; 11 males) and 40 non-autistic (N-AUT; 21 males) university students...

Disturbances in cholesterol homeostasis have been associated with ASD. Lipid rafts are central in many transmembrane signaling pathways (including mTOR) and changes in raft cholesterol content affect their order function. Cholesterol levels are controlled by several mechanisms, including endoplasmic reticulum associated degradation (ERAD) of the rate limiting HMGCoA reductase. A new approach to increase cholesterol via temporary ERAD blockade using a benign bacterial toxin-derived competitor for the ERAD translocon is suggested...

BACKGROUND: Atypical anticipation of social reward has been indicated to lie at the core of the social challenges faced by individuals with autism spectrum disorder (ASD). However, past research has yielded inconsistent results, often overlooking crucial characteristics of stimuli. Here, we investigated ASD reward processing using social and non-social tangible stimuli, carefully matched on several key dimensions. METHODS: We examined the anticipation and consumption of social (interpersonal touch) and non-social (flavored milk) rewards in 25 high-functioning ASD and 25 neurotypical adult individuals...

PURPOSE: Professional supports play an important role in aiding autistic children's learning, participation, and overall wellbeing. Yet, limited research exists on stakeholders' perspectives and preferences regarding targeted outcomes for children undergoing support facilitated by professionals. This study investigated stakeholder views on the priority and appropriateness of outcomes intentionally targeted during the provision of supports to autistic children. METHOD: A survey of 181 participants (including 72 autistic adults, 85 parents, and 69 professionals) from Australia and New Zealand was conducted...

Past research has highlighted the importance of early identification of developmental differences to improve targeted access to early interventions or supports. As such, it is of particular importance in the context of children at elevated likelihood of autism (such as where an older sibling has a diagnosis of autism), to better understand when and which early concerns are important as predictors of which children will benefit from pre-diagnostic supports. This study explored the number and frequency of retrospective parent reported concerns within the first year of life for children diagnosed with autism, both those who had an older sibling diagnosed with autism and those who did not, as well as for undiagnosed siblings...

Many autistic people struggle with mental health problems like anxiety, depression, inattention, and aggression, which can be challenging to treat. Executive function challenges, which impact many autistic individuals, may serve as a risk factor for mental health problems or make treating mental health conditions more difficult. While some people respond well to medication or therapy, others do not. This study tried to understand if there are different subgroups of autistic young people who may have similar patterns of executive function strengths and challenges-like flexibility, planning, self-monitoring, and emotion regulation...

To date, information on associations between motor skills and executive functions (EF) in autistic children is limited. The purpose of this study was to compare motor skills and EF performance between autistic children and typically developing (TD) children and to examine the relationships between motor skills and EF in these two groups. Forty-eight autistic children and 48 TD children aged 6 to 12 years were recruited for this study. Motor skills were measured with the Bruininks-Oseretsky Test of Motor Proficiency-2 (BOT-2)...

An early detection of Neurodevelopmental Disorders (NDDs) is crucial for their prognosis; however, the clinical heterogeneity of some disorders, such as autism spectrum disorder (ASD) or attention-deficit hyperactivity disorder (ADHD) is an obstacle to accurate diagnoses in children. In order to facilitate the screening process, the current study aimed to identify symptom-based clusters among a community-based sample of preschool and school-aged children, using behavioral characteristics reported by teachers...

OBJECTIVE: To evaluate associations between change in weight z-score after neonatal intensive care unit (NICU) discharge and neurodevelopmental outcomes and obesity at 12-48 months of age among individuals born very preterm. STUDY DESIGN: This secondary analysis used data from infants born very preterm participating in the Environmental influences on Child Health Outcomes cohort (n=1400). Growth during infancy was calculated as change in weight z-score between NICU discharge and follow-up at a mean of 27 months of age...

Growing evidence suggested that individuals with autism spectrum disorder (ASD) associated with stroke and cardiovascular disease (CVD). However, the causal association between ASD and the risk of stroke and CVD remains unclear. To validate this, we performed two-sample Mendelian randomization (MR) and two-step mediation MR analyses, using relevant genetic variants sourced from the largest genome-wide association studies (GWASs). Two-sample MR evidence indicated causal relationships between ASD and any stroke (OR = 1...

IMPORTANCE: Caregivers are essential partners in caregiver-mediated interventions that build on family routines and practices. Research identifying how participation as an intervention partner influences caregivers' outcomes, including stress and self-efficacy, is scarce. OBJECTIVE: To evaluate caregiver outcomes (stress, self-efficacy, and positive feeding responses and confidence) after participation in the Engaged Eaters Program. DESIGN: Quasi-experimental pretest-posttest design...

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BACKGROUND: Neurophysiological studies recognized that Autism Spectrum Disorder (ASD) is associated with altered patterns of over- and under-connectivity. However, little is known about network organization in children with ASD in the early phases of development and its correlation with the severity of core autistic features. METHODS: The present study aimed at investigating the association between brain connectivity derived from MEG signals and severity of ASD traits measured with different diagnostic clinical scales, in a sample of 16 children with ASD aged 2 to 6 years...