Category: Autism Research

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Confidence in communicating with patients with cancer mediates the relationship between rehabilitation therapists’ autistic-like traits and perceived difficulty in communication.

Abstract OBJECTIVE: Recently, rehabilitation therapists have become involved in cancer rehabilitation; however, no communication skills training that increases the ability to provide emotional support for cancer patients has been developed for rehabilitation therapists. In addition, no study has examined associations between rehabilitation therapists’ communication skills and their level of autistic-like traits (ALT), which are in-born ...

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Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions.

Abstract Speech and motor deficits are highly prevalent (>70%) in individuals with the 600 kb BP4-BP5 16p11.2 deletion; however, the mechanisms that drive these deficits are unclear, limiting our ability to target interventions and advance treatment. This study examined fundamental aspects of speech motor control in participants with the 16p11.2 deletion. To assess capacity for control ...

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Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism.

Abstract Solid progress has occurred over the last decade in our understanding of the molecular genetic basis of neurodevelopmental disorders, and of schizophrenia and autism in particular. Although the genetic architecture of both disorders is far more complex than previously imagined, many key loci have at last been identified. This has allowed in vivo and ...

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The daunting polygenicity of mental illness: making a new map.

Abstract An epochal opportunity to elucidate the pathogenic mechanisms of psychiatric disorders has emerged from advances in genomic technology, new computational tools and the growth of international consortia committed to data sharing. The resulting large-scale, unbiased genetic studies have begun to yield new biological insights and with them the hope that a half century of ...

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Neuroimaging in neurodevelopmental disorders: focus on resting-state fMRI analysis of intrinsic functional brain connectivity.

Abstract PURPOSE OF REVIEW: Resting-state fMRI assessment of instrinsic functional brain connectivity (rs-fcMRI) in autism spectrum disorders (ASD) allows assessment of participants with a wide range of functioning levels, and collection of multisite databases that facilitate large-scale analysis. These heterogeneous multisite data present both promise and methodological challenge. Herein, we provide an overview of recent ...

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Re: Folate status and autism spectrum disorders.

Re: Folate status and autism spectrum disorders. Paediatr Perinat Epidemiol. 2018 Jan 19;: Authors: Fluegge K PMID: 29350778 [PubMed – as supplied by publisher]

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The morphometric co-atrophy networking of schizophrenia, autistic and obsessive spectrum disorders.

Abstract By means of a novel methodology that can statistically derive patterns of co-alterations distribution from voxel-based morphological data, this study analyzes the patterns of brain alterations of three important psychiatric spectra-that is, schizophrenia spectrum disorder (SCZD), autistic spectrum disorder (ASD), and obsessive-compulsive spectrum disorder (OCSD). Our analysis provides five important results. First, in SCZD, ...

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Is Older Age Associated with Higher Self- and Other-Rated ASD Characteristics?

Abstract Autism spectrum disorder (ASD) characteristics seem to abate over time, but whether this protracts until late adulthood is largely unknown. We cross-sectionally investigated self- and other-reported ASD characteristics of adults with (ASD: Nmax-self = 237, Nmax-other = 130) and without ASD (COM: Nmax-self = 198, Nmax-other = 148) aged 19-79 years. Within the ASD group, self-reported ASD characteristics, and sensory sensitivities were highest ...

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Cerebellum: from Development to Disease-the 8th International Symposium of the Society for Research on the Cerebellum and Ataxias.

Abstract In recent years, there has been tremendous growth in research on cerebellar motor and non-motor functions. Cerebellum is particularly involved in the spectrum of neurodevelopmental diseases. The 8th International Symposium of the Society for Research on the Cerebellum and Ataxia (SRCA) was held in Winnipeg, Manitoba, (Canada) on May 24-26, 2017. The main theme ...

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Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome.

Abstract Christianson syndrome (CS) is an X-linked disorder resulting from loss-of-function mutations in SLC9A6, which encodes the endosomal Na+/H+ exchanger 6 (NHE6). Symptoms include early developmental delay, seizures, intellectual disability, nonverbal status, autistic features, postnatal microcephaly, and progressive ataxia. Neuronal development is impaired in CS, involving defects in neuronal arborization and synaptogenesis, likely underlying diminished ...

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Structural basis of SALM5-induced PTPδ dimerization for synaptic differentiation.

Abstract SALM5, a synaptic adhesion molecule implicated in autism, induces presynaptic differentiation through binding to the LAR family receptor protein tyrosine phosphatases (LAR-RPTPs) that have been highlighted as presynaptic hubs for synapse formation. The mechanisms underlying SALM5/LAR-RPTP interaction remain unsolved. Here we report crystal structures of human SALM5 LRR-Ig alone and in complex with human ...

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Association Study of Polymorphisms in Genes Relevant to Vitamin B12 and Folate Metabolism with Childhood Autism Spectrum Disorder in a Han Chinese Population.

Abstract BACKGROUND Both genetic and environmental factors play a role in the development of autism spectrum disorder (ASD). This case-control study examined the association between childhood ASD and single-nucleotide polymorphisms (SNPs) in genes involved with vitamin B12 and folate metabolism. MATERIAL AND METHODS Genotypes of transcobalamin 2 (TCN2) rs1801198, methionine synthase (MTR) rs1805087, methionine synthase ...

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Executive Dysfunction in Autism Spectrum Disorder Is Associated With a Failure to Modulate Frontoparietal-insular Hub Architecture.

Abstract BACKGROUND: Comorbid executive dysfunction in autism spectrum disorder (ASD) is a barrier to adaptive functioning, despite remittance of core social-communication symptoms. Network models of ASD address core symptoms but not comorbid executive dysfunction. Following recent demonstrations in healthy adults that, with increasing executive demands, hubs embedded within frontoparietal-insular control networks interact with a more ...

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Negative Valence in Autism Spectrum Disorder: The Relationship Between Amygdala Activity, Selective Attention, and Co-occurring Anxiety.

Abstract BACKGROUND: A critical agenda of the National Institutes of Health Research Domain Criteria (RDoC) initiative is establishing whether domains within the RDoC matrix are truly transdiagnostic. Rates of anxiety disorders are elevated in autism spectrum disorder (ASD), but it is unclear whether the same mechanisms contribute to anxiety in individuals with and without ASD. ...

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Obligatory Processing of Task-Irrelevant Stimuli: A Hallmark of Autistic Cognitive Style Within and Beyond the Diagnosis.

Obligatory Processing of Task-Irrelevant Stimuli: A Hallmark of Autistic Cognitive Style Within and Beyond the Diagnosis. Biol Psychiatry Cogn Neurosci Neuroimaging. 2017 Sep;2(6):461-463 Authors: Belmonte MK PMID: 29348037 [PubMed – in process]

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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.

Abstract BACKGROUND: 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 ...

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Scaling of the surface vasculature on the human placenta.

Abstract The networks of veins and arteries on the chorionic plate of the human placenta are analyzed in terms of Voronoi cells derived from these networks. Two groups of placentas from the United States are studied: a population cohort with no prescreening, and a cohort from newborns with an elevated risk of developing autistic spectrum ...

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“Gap hunting” to characterize clustered probe signals in Illumina methylation array data.

Abstract BACKGROUND: The Illumina 450k array has been widely used in epigenetic association studies. Current quality-control (QC) pipelines typically remove certain sets of probes, such as those containing a SNP or with multiple mapping locations. An additional set of potentially problematic probes are those with DNA methylation distributions characterized by two or more distinct clusters ...

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Longitudinal trajectories of intellectual and adaptive functioning in adolescents and adults with Williams syndrome.

Abstract BACKGROUND: Williams syndrome (WS) is associated with a distinct cognitive-behavioural phenotype including mild to moderate intellectual disability, visual-spatial deficits, hypersociability, inattention and anxiety. Researchers typically characterise samples of individuals with WS by their intellectual functioning and adaptive behaviour. Because of the low prevalence of the syndrome, researchers often include participants with WS across a ...

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The cost and impact of compulsivity: A research perspective.

Abstract Compulsivity is the defining feature of various psychiatric disorders including Obsessive Compulsive Related Disorders (OCRDs), and other compulsive, impulsive, and addictive disorders. These disorders are disabling, chronic conditions with an early onset and high rates of comorbidity, misdiagnoses, and delay in treatment onset. Disorders of compulsivity are responsible for considerable socioeconomic burden to society. ...

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Common and distinct patterns of grey-matter volume alteration in major depression and bipolar disorder: evidence from voxel-based meta-analysis.

Abstract Finding robust brain substrates of mood disorders is an important target for research. The degree to which major depression (MDD) and bipolar disorder (BD) are associated with common and/or distinct patterns of volumetric changes is nevertheless unclear. Furthermore, the extant literature is heterogeneous with respect to the nature of these changes. We report a ...

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Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

Abstract Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the “de novo paradigm” of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts ...

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The Relationship between Autism Spectrum Disorder and Melatonin during Fetal Development.

Abstract The aim of this review is to clarify the interrelationship between melatonin and autism spectrum disorder (ASD) during fetal development. ASD refers to a diverse range of neurodevelopmental disorders characterized by social deficits, impaired communication, and stereotyped or repetitive behaviors. Melatonin, which is secreted by the pineal gland, has well-established neuroprotective and circadian entraining ...

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Interdisciplinary Team Evaluation: An Effective Method for the Diagnostic Assessment of Autism Spectrum Disorder.

Abstract OBJECTIVE: The objective of this research is to assess the feasibility of an interdisciplinary team diagnostic assessment model for autism spectrum disorder (ASD). METHOD: Medical records from 366 patients evaluated for ASD at the Seattle Children’s Autism Center (SCAC) were reviewed. ASD diagnostic outcomes, provider satisfaction, engagement in follow-up care, billed time, and reimbursement ...

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Disrupted behaviour in grammatical morphology in French speakers with autism spectrum disorders.

Abstract Mixed and inconsistent findings have been reported across languages concerning grammatical morphology in speakers with Autism Spectrum Disorders (ASD). Some researchers argue for a selective sparing of grammar whereas others claim to have identified grammatical deficits. The present study aimed to investigate this issue in 26 participants with ASD speaking European French who were ...

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Selective serotonin reuptake inhibitor use in pregnant women; pharmacogenetics, drug-drug interactions and adverse effects.

Abstract Possible negative effects of selective serotonin reuptake inhibitors (SSRIs) in pregnancy relate to congenital anomalies, negative perinatal events and neurodevelopmental outcome. Many studies are confounded by the underlying maternal disease and by pharmacogenetic and pharmacokinetic differences of these drugs. Areas covered: The possible interactions of SSRIs and serotonin and norepinephrine reuptake inhibitors with other ...

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Reviewer Thank You 2017.

Related Articles Reviewer Thank You 2017. Autism Res. 2018 Jan;11(1):6-15 Authors: PMID: 29345118 [PubMed – in process]

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Construct Validity of the Autism Impact Measure (AIM).

Abstract The Autism Impact Measure (AIM) was designed to track incremental change in frequency and impact of core ASD symptoms. The current study examined the structural and convergent validity of the AIM in a large sample of children with ASD. The results of a series of exploratory and confirmatory factor analyses yielded a final model ...

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DNA methylation as a predictor of fetal alcohol spectrum disorder.

Abstract Background: Fetal alcohol spectrum disorder (FASD) is a developmental disorder that manifests through a range of cognitive, adaptive, physiological, and neurobiological deficits resulting from prenatal alcohol exposure. Although the North American prevalence is currently estimated at 2-5%, FASD has proven difficult to identify in the absence of the overt physical features characteristic of fetal alcohol ...