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Autism Awareness Month 2018

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This week, and through the whole of April, we’re celebrating Autism Awareness Week (AAW) and Month, a global campaign to promote autism awareness, autism acceptance and to draw attention to the tens of thousands facing an autism diagnosis each year, encouraging friends and collaborators to become partners in movement toward acceptance and appreciation. The aim is to ensure each person with ASD is provided with the opportunity to achieve the highest possible quality of life, in a society where those with ASDs are truly valued for their unique talents and gifts. 

Below is a collection of our most influential open access articles, blogs and ground-breaking research in the field.

Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion

The etiology of autism spectrum disorders (ASD) is very heterogeneous. Mitochondrial dysfunction has been described in ASD; however, primary mitochondrial disease has been genetically proven in a small subset of patients. The main goal of this study was to investigate correlations between mitochondrial DNA (mtDNA) changes and alterations of genes associated with mtDNA maintenance or ASD.

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Hippocampus and amygdala radiomic biomarkers for the study of autism spectrum disorder

Emerging evidence suggests the presence of neuroanatomical abnormalities in subjects with autism spectrum disorder (ASD). Identifying anatomical correlates could thus prove useful for the automated diagnosis of ASD. This study demonstrates the potential of hippocampal texture features as a biomarker for the diagnosis and characterization of ASD.

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Associations among maternal pre-pregnancy body mass index, gestational weight gain and risk of autism in the Han Chinese population

Autism is a neurodevelopmental disorder with an unclear etiology. Pre-pregnancy body mass index (BMI) and gestational weight gain (GWG) have been suggested to play a role in the etiology of autism. The current study explores the associations among maternal pre-pregnancy BMI, GWG and the risk of autism in the Han Chinese population.

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Autism Spectrum disorders (ASD) in South Asia: a systematic review

The prevalence of ASD in many South Asian countries is still unknown. The aim of this study was to systematically review available epidemiological studies of ASD in this region to identify gaps in our current knowledge.

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Experiences of an internet-based support and coaching model for adolescents and young adults with ADHD and autism spectrum disorder –a qualitative study

There is a great demand for non-medical treatment and support targeting the needs of adolescents and young adults with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). There is also a lack of qualitative studies providing in-depth insight into these individuals’ own experiences within this area. The current study aimed to explore how adolescents and young adults with ADHD, ASD or both experienced taking part in an internet-based support and coaching intervention.​​​​​​​

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Metabotropic glutamate receptor 5 tracer [18F]-FPEB displays increased binding potential in postcentral gyrus and cerebellum of male individuals with autism: a pilot PET study

Autism is a neurodevelopmental disorder that is first manifested during early childhood. Postmortem experiments have identified significantly elevated expression of metabotropic glutamate receptor 5 (mGluR5) in cerebellar vermis and prefrontal cortex of individuals with autism. This study investigates alterations in glutamate signalling in critical brain areas of subjects with autism.

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Tourette syndrome and other neurodevelopmental disorders: a comprehensive review

Gilles de la Tourette syndrome (TS) is a complex developmental neuropsychiatric condition in which motor manifestations are often accompanied by comorbid conditions that impact the patient’s quality of life. In the DSM-5, TS belongs to the “neurodevelopmental disorders” group, together with other neurodevelopmental conditions, frequently co-occurring. In this study, we searched the PubMed database using a combination of keywords associating TS and all neurodevelopmental diagnoses, concluding that conclude that a prompt diagnosis and a detailed description of TS comorbidities are necessary not only to understand the aetiological basis of neurodevelopmental disorders but also to address specific rehabilitative and therapeutic approaches.

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Minor physical anomalies in neurodevelopmental disorders: a twin study

Minor physical anomalies (MPAs) are subtle anatomical deviations in one’s appearance and may suggest altered embryogenesis. MPAs have been shown to be more common in neurodevelopmental disorders (NDDs) compared with typical development. Further studies are needed on MPAs in NDDs, especially using twins to adjust for confounding familial factors which is investigated in this study.

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Autism in adult and juvenile delinquents: a literature review

This reviews provides an overview of autism in juvenile delinquents. Prevalence of delinquency in the ASD population varied dramatically between studies, as did prevalence of ASD in forensic populations. From the current literature, it cannot be concluded that people with ASD are more or less likely to offend than the general population. Further studies should examine the confounding factors around the association in detail, to build a more nuanced picture of this complex relationship.

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Training needs and perspectives of community health workers in relation to integrating child mental health care into primary health care in a rural setting in sub-Saharan Africa: a mixed methods study

Community health workers can help to address the substantial unmet need for child mental health care in low and middle income countries. However, little is known about their training needs for this potential role. The aim of this study was to examine training needs and perspectives of community health extension workers (HEWs) in relation to providing child mental health care in rural Ethiopia.

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Featured blog: Research on rare genetic disorders informs autism and leads to better clinical care

New Content ItemRare genetic neurodevelopmental disorders are often associated with autism spectrum disorder (ASD). For example, about 30% of individuals with Fragile X syndrome, a rare form of intellectual disability, have autism. In this blog marking Rare Disease Day, Dr. Silvia De Rubeis shares some of the latest research on rare genetic diseases associated with autism and explains how it is benefiting treatment strategies, improving clinical trials and increasing our knowledge of autism.
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3D brain Organoids derived from pluripotent stem cells: promising experimental models for brain development and neurodegenerative disorders

This review describes the history and current state of 3D brain organoid differentiation strategies, a survey of applications of organoids towards studies of neurodevelopmental and neurodegenerative disorders, and the challenges associated with their use as in vitro models of neurological disorders.

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Read more from this series: Challenges in neurodegenerative diseases

A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex

Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies. In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers.

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Attention and motor deficits index non-specific background liabilities that predict autism recurrence in siblings

Recent research has demonstrated that subclinical autistic traits of parents amplify the effects of deleterious mutations in the causation of autism spectrum disorder (ASD) in their offspring. This study examines the extent to which two neurodevelopmental traits that are non-specific to ASD—inattention/hyperactivity and motor coordination—might contribute to ASD recurrence in siblings of ASD probands.

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EEG power at 3 months in infants at high familial risk for autism

Alterations in brain development during infancy may precede the behavioral manifestation of developmental disorders. Infants at increased risk for autism are also at increased risk for other developmental disorders, including, quite commonly, language disorders. This study assesses the extent to which electroencephalographic (EEG) differences in infants at high versus low familial risk for autism are present by 3 months of age, and elucidate the functional significance of EEG power at 3 months in predicting later development.

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Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism - a source of biomarkers for clinical diagnosis

Clinical chemistry tests for autism spectrum disorder (ASD) are currently unavailable. The aim of this study was to explore the diagnostic utility of proteotoxic biomarkers in plasma and urine, plasma protein glycation, oxidation, and nitration adducts, and related glycated, oxidized, and nitrated amino acids (free adducts), for the clinical diagnosis of ASD.

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Network-specific sex differentiation of intrinsic brain function in males with autism

The male predominance in the prevalence of autism spectrum disorder (ASD) has motivated research on sex differentiation in ASD. Multiple sources of evidence have suggested a neurophenotypic convergence of ASD-related characteristics and typical sex differences. Two existing, albeit competing, models provide predictions on such neurophenotypic convergence. These two models are testable with neuroimaging. This study looks to clarify whether either model applies to the intrinsic functional properties of the brain in males with ASD.

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Oscillatory rhythm of reward: anticipation and processing of rewards in children with and without autism

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition, and multiple theories have emerged concerning core social deficits. While the social motivation hypothesis proposes that deficits in the social reward system cause individuals with ASD to engage less in social interaction, the overly intense world hypothesis (sensory over-responsivity) proposes that individuals with ASD find stimuli to be too intense and may have hypersensitivity to social interaction, leading them to avoid these interactions. This study evaluate which hypothesis may be occuring in patients with ASD.

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Read more in the series: Emerging rare genetic and genomic syndromes in autism and developmental delay

Warburg effect hypothesis in autism Spectrum disorders

In altered cells found in ASD, metabolic enzymes are modified by the dysregulation of the canonical WNT/β-catenin pathway. In ASD, the canonical WNT/β-catenin pathway is upregulated. We focus this review on the hypothesis of Warburg effect stimulated by the overexpression of the canonical WNT/β-catenin pathway in ASD. Dysregulation of energetic metabolism might promote cell deregulation and progression of ASD. Warburg effect regulation could be an attractive target for developing therapeutic interventions in ASD.

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Cognitive flexibility training intervention among children with autism: a longitudinal study

Autism is defined by persistent deficits in social communication and social interaction in multiple contexts as well as restricted and repetitive patterns of behavior. There are also reported difficulties in the dynamic activation and modification of cognitive processes in response to changes in tasks’ demands. Such difficulties are believed to be due to poor flexible cognition. This research aimed to assess and intervene in cognitive flexibility in subjects with autism.

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Genome-wide analyses of self-reported empathy: correlations with autism, schizophrenia, and anorexia nervosa

Several psychological studies have identified difficulties in both self-report and performance-based measures of empathy in a range of psychiatric conditions. To date, no study has systematically investigated the genetic architecture of empathy using genome-wide association studies (GWAS). Here we report the results of the largest GWAS of empathy to date.

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An evaluation of the effects of intensity and duration on outcomes across treatment domains for children with autism spectrum disorder

Applied behavior analysis (ABA) is considered an effective treatment for individuals with autism spectrum disorder (ASD), and many researchers have further investigated factors associated with treatment outcomes. However, few studies have focused on whether treatment intensity and duration have differential influences on separate skills. The aim of this study was to investigate how treatment intensity and duration impact learning across different treatment domains, including academic, adaptive, cognitive, executive function, language, motor, play, and social. 

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Enriched expression of genes associated with autism spectrum disorders in human inhibitory neurons

Autism spectrum disorder (ASD) is highly heritable but genetically heterogeneous. The affected neural circuits and cell types remain unclear and may vary at different developmental stages. By analyzing multiple sets of human single cell transcriptome profiles this study identified major neuron subtypes affected by the disruption of ASD gene networks.

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