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https://www.readbyqxmd.com/read/28548711/sequential-associations-between-caregiver-talk-and-child-play-in-autism-spectrum-disorder-and-typical-development
#1
Kristen Bottema-Beutel, Caitlin Malloy, Blair P Lloyd, Rebecca Louick, Linnea Joffe-Nelson, Linda R Watson, Paul J Yoder
This study examined sequential associations between child play and caregiver talk in 98 caregiver-child dyads (Mmental age  = 14 months). Fifty dyads included a child with autism spectrum disorder (ASD). Analyses revealed sequential associations between child play and caregiver follow-in (FI) utterances (utterances related to the child's attentional focus) were stronger in the ASD as compared to the typically developing (TD) group. FI utterances were more likely to elicit functional play than caregiver-focused utterances, and more so in the ASD group...
May 26, 2017: Child Development
https://www.readbyqxmd.com/read/28548002/precursors-of-language-development-in-asc-a-longitudinal-single-subject-study-of-gestures-in-relation-to-phonetic-prosody
#2
Pia M Nordgren
We longitudinally investigated the development of deictic and general accompanying gestures in one 5-year-old boy with autism spectrum condition (ASC) and intellectual disability. The investigation was performed during an intervention focusing on phonological segments. The purpose was to see whether gestures developed in conjunction with language. We found that deictic and general accompanying gestures increased during the study, despite not being trained. There was also a positive temporal correlation between deictic gestures and speech...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28546058/the-role-of-il-6-in-neurodevelopment-after-prenatal-stress
#3
Serena B Gumusoglu, Rebecca S Fine, Samuel J Murray, Jada L Bittle, Hanna E Stevens
Prenatal stress exposure is associated with adverse psychiatric outcomes, including autism and ADHD, as well as locomotor and social inhibition and anxiety-like behaviors in animal offspring. Similarly, maternal immune activation also contributes to psychiatric risk and aberrant offspring behavior. The mechanisms underlying these outcomes are not clear. Offspring microglia and the pro-inflammatory cytokine interleukin-6 (IL-6), known to influence microglia, may serve as common mechanisms between prenatal stress and prenatal immune activation...
May 22, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28545754/autism-and-convictions-for-violent-crimes-population-based-cohort-study-in-sweden
#4
Ragini Heeramun, Cecilia Magnusson, Clara Hellner Gumpert, Sven Granath, Michael Lundberg, Christina Dalman, Dheeraj Rai
OBJECTIVE: Recent systematic reviews have highlighted that the relationship between autism and violent offending is still unclear, but some cases have received extensive media scrutiny. We investigated whether autism is associated with convictions for violent crimes, and studied the associated risk and protective factors. METHOD: We analyzed data from the Stockholm Youth Cohort, a total population-based record-linkage cohort in Stockholm County comprising 295,734 individuals followed up between 15 and 27 years of age...
June 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28545751/what-is-the-male-to-female-ratio-in-autism-spectrum-disorder-a-systematic-review-and-meta-analysis
#5
REVIEW
Rachel Loomes, Laura Hull, William Polmear Locke Mandy
OBJECTIVE: To derive the first systematically calculated estimate of the relative proportion of boys and girls with autism spectrum disorder (ASD) through a meta-analysis of prevalence studies conducted since the introduction of the DSM-IV and the International Classification of Diseases, Tenth Revision. METHOD: Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. The Medline, Embase, and PsycINFO databases were searched, and study quality was rated using a risk-of-bias tool...
June 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28544736/molybdenum-cofactor-deficiency-identification-of-a-patient-with-homozygote-mutation-in-the-mocs3-gene
#6
Jan G M Huijmans, Rachel Schot, Johannis B C de Klerk, Monique Williams, René F M de Coo, Marinus Duran, Frans W Verheijen, Marjon van Slegtenhorst, Grazia M S Mancini
We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible with molybdenum cofactor deficiency, but normal sulfite oxidase activity in cultured skin fibroblasts. Genomic exome analysis revealed a homozygous MOCS3 missense mutation, leading to a p.Ala257Thr substitution in the highly conserved ubiquitin-like-domain of the protein...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544626/countering-evidence-denial-and-the-promotion-of-pseudoscience-in-autism-spectrum-disorder
#7
Isabel M Smith, Noni E MacDonald
This commentary introduces a framework within which clinical and research experts in autism spectrum disorder (ASD) can address public instances of evidence denial and promotion of pseudoscience related to ASD. This is a generalized extension of work by a World Health Organization (WHO) group dedicated to reducing the influence of Vocal Vaccine Deniers through educating advocates in how to effectively defuse their arguments. The WHO guidelines were informed by conceptual work on the "denialism" phenomenon, and by studies in psychology, communication, vaccine science, and public health...
May 22, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28543302/a-randomised-controlled-trial-of-an-ipad-based-application-to-complement-early-behavioural-intervention-in-autism-spectrum-disorder
#8
Andrew J O Whitehouse, Joanna Granich, Gail Alvares, Margherita Busacca, Matthew N Cooper, Alena Dass, Thi Duong, Rajes Harper, Wendy Marshall, Amanda Richdale, Tania Rodwell, David Trembath, Pratibha Vellanki, Dennis W Moore, Angelika Anderson
BACKGROUND: Technology-based interventions for Autism Spectrum Disorder (ASD) have proliferated, but few have been evaluated within the context of a randomised controlled trial (RCT). This RCT evaluated the efficacy of one technology-based early intervention programme (Therapy Outcomes By You; TOBY) in young children with ASD. METHODS: TOBY is an app-based learning curriculum designed for children and parents as a complement to early behavioural intervention. Eighty children (16 female) were recruited to this RCT within 12 months of receiving a diagnosis of ASD (M age = 3...
May 25, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28542618/early-and-late-stage-processing-abnormalities-in-autism-spectrum-disorders-an-erp-study
#9
Shanshan Wang, Chunjuan Yang, Yijun Liu, Zhi Shao, Todd Jackson
This research assessed event-related potentials (ERPs) elicited during the processing of different kinds of visual stimuli among children with Autism Spectrum Disorder (ASD) (n = 15) and typically developing (TD) children (n = 19). Within a simple visual oddball paradigm, participating children passively viewed fruit and vegetable images that were used as standard stimuli in addition to images of these foods with their usual colors modified to create novel stimuli and cartoon depictions of these images (i.e...
2017: PloS One
https://www.readbyqxmd.com/read/28542365/delusion-proneness-displays-comorbidity-with-traits-of-autistic-spectrum-disorders-and-adhd
#10
Anaïs Louzolo, Petter Gustavsson, Lars Tigerström, Martin Ingvar, Andreas Olsson, Predrag Petrovic
There is an increasing body of evidence suggesting a significant comorbidity between psychotic disorders such as schizophrenia and attention-deficit/hyperactivity disorder (ADHD) or autism-spectrum disorders (ASD). Recently, research on psychosis-proneness in otherwise healthy individuals has been a promising way to better understand the mechanisms underlying psychosis. As both ADHD and ASD symptoms show a normal distribution in the general population, such trait comorbidity may confound studies on psychosis-proneness...
2017: PloS One
https://www.readbyqxmd.com/read/28540866/electrophysiological-signatures-of-atypical-intrinsic-brain-connectivity-networks-in-autism
#11
Guofa Shou, Matthew W Mosconi, Jun Wang, Lauren E Ethridge, John A Sweeney, Lei Ding
OBJECTIVE: Abnormal local and long-range brain connectivity have been widely reported in autism spectrum disorder (ASD), yet the nature of these abnormalities and their functional relevance at distinct cortical rhythms remains unknown. Investigations of intrinsic connectivity networks (ICNs) and their coherence across whole brain networks hold promise for determining whether patterns of functional connectivity abnormalities vary across frequencies and networks in ASD. In the present study, we aimed to probe atypical intrinsic brain connectivity networks in ASD from resting-state electroencephalography (EEG) data via characterizing the whole brain network...
May 25, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28540549/the-association-between-air-pollutants-and-autism-spectrum-disorders
#12
Chunyan Yang, Weiwei Zhao, Kui Deng, Vanessa Zhou, Xiaohua Zhou, Yan Hou
Autism spectrum disorders are a member of the pervasive developmental disorders (PDDs) that have been increasing dramatically since described by Leo Kanner in 1943. In the past decade, the number of epidemiological publications addressing air pollution exposures and autism has grown correspondingly, but the association is still unclear. Whether air pollutants play a causal role and which substances are related with autism requires further study. We systematically reviewed the literature from 2005 to 2016 in MEDLINE (National Library of Medicine), Web of Science, and PubMed and summarized the association between different air pollutants and autism...
May 24, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28540453/linking-anxiety-and-insistence-on-sameness-in-autistic-children-the-role-of-sensory-hypersensitivity
#13
Karen R Black, Ryan A Stevenson, Magali Segers, Busiswe L Ncube, Sol Z Sun, Aviva Philipp-Muller, James M Bebko, Morgan D Barense, Susanne Ferber
Sensory hypersensitivity and insistence on sameness (I/S) are common, co-occurring features of autism, yet the relationship between them is poorly understood. This study assessed the impact of sensory hypersensitivity on the clinical symptoms of specific phobia, separation anxiety, social anxiety and I/S for autistic and typically developing (TD) children. Parents of 79 children completed questionnaires on their child's difficulties related to sensory processing, I/S, and anxiety. Results demonstrated that sensory hypersensitivity mediated 67% of the relationship between symptoms of specific phobia and I/S and 57% of the relationship between separation anxiety and I/S...
May 24, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28540026/meta-analysis-of-gwas-of-over-16-000-individuals-with-autism-spectrum-disorder-highlights-a-novel-locus-at-10q24-32-and-a-significant-overlap-with-schizophrenia
#14
(no author information available yet)
BACKGROUND: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28538514/long-term-outcome-of-4-patients-with-transcobalamin-deficiency-caused-by-2-novel-tcn2-mutations
#15
Marwan Nashabat, Gustavo Maegawa, Peter H Nissen, Ebba Nexo, Hussain Al-Shamrani, Mohammed Al-Owain, Majid Alfadhel
Cobalamin (vitamin B12 [Cbl]) is an essential cofactor for many biochemical pathways. Transcobalamin (TC) is required to internalize Cbl into the cells through membrane receptor-mediated endocytosis. Cbl is then processed in the cytoplasm and mitochondria by complementation factors leading to its active metabolites; methylcobalamin and 5-deoxyadenosyl-cobalamin. Deficiency of TC results in an elevation in methylmalonic acid and homocysteine. Patients usually present with macrocytic anemia, pancytopenia, failure to thrive, gastrointestinal symptoms, and neurological dysfunction...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28537758/validation-of-the-empathy-quotient-in-mainland-china
#16
Qing Zhao, David L Neumann, Xiaoyan Cao, Simon Baron-Cohen, Xiang Sun, Yuan Cao, Chao Yan, Yuna Wang, Lin Shao, David H K Shum
This research aimed to validate a simplified Chinese version of the Empathy Quotient (EQ; 60 items) for use with Mainland Chinese people. The original English version of the EQ was translated into simplified Chinese. Through an online survey, 588 Mainland Chinese participants completed the EQ and 3 other questionnaires: the Interpersonal Reactivity Index (IRI), the Autism-Spectrum Quotient (AQ), and the 20-item Toronto Alexithymia Scale (TAS-20). Thirty-five participants completed retesting of the EQ 3 to 4 weeks later...
May 24, 2017: Journal of Personality Assessment
https://www.readbyqxmd.com/read/28536974/neonatal-immune-challenge-with-lipopolysaccharide-triggers-long-lasting-sex-and-age-related-behavioral-and-immune-neurotrophic-alterations-in-mice-relevance-to-autism-spectrum-disorders
#17
Charllyany Sabino Custódio, Bruna Stefânia Ferreira Mello, Adriano José Maia Chaves Filho, Camila Nayane de Carvalho Lima, Rafaela Carneiro Cordeiro, Fábio Miyajima, Gislaine Z Réus, Silvânia Maria Mendes Vasconcelos, Tatiana Barichello, João Quevedo, Antônio Carlos de Oliveira, David Freitas de Lucena, Danielle S Macedo
Early-life challenges, particularly infections and stress, are related to neuropsychiatric disorders such as autism and schizophrenia. Here, we conducted a wide range of behavioral tests in periadolescent (postnatal day (PN) 35) and adult (PN70) Swiss mice neonatally challenged with LPS on PN5 and -7, to unveil behavioral alterations triggered by LPS exposure. Immune and neurotrophic (brain-derived neurotrophic factor-BDNF) alterations were determined in the prefrontal cortex (PFC), hippocampus (HC), and hypothalamus (HT)...
May 23, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28536440/genetic-variants-in-the-transcription-regulatory-region-of-megf10-are-associated-with-autism-in-chinese-han-population
#18
Zhiliu Wu, Jian Qin, Yang You, Yuanlin Ma, Meixiang Jia, Linyan Wang, Tianlan Lu, Weihua Yue, Yanyan Ruan, Dai Zhang, Jun Li, Lifang Wang
Multiple epidermal growth factor-like-domains 10 (MEGF10), a critical member of the apoptotic engulfment pathway, mediates axon pruning and synapse elimination during brain development. Previous studies indicated that synaptic pruning deficit was associated with autism-related phenotypes. However, the relationship between MEGF10 and autism remains poorly understood. Disease-associated variants are significantly enriched in the transcription regulatory regions. These include the transcription start site (TSS) and its cis-regulatory elements...
May 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28536274/mapping-22q11-2-gene-dosage-effects-on-brain-morphometry
#19
Amy Lin, Christopher R K Ching, Ariana Vajdi, Daqiang Sun, Rachel K Jonas, Maria Jalbrzikowski, Leila Kushan-Wells, Laura Pacheco Hansen, Emma Krikorian, Boris Gutman, Deepika Dokoru, Gerhard Helleman, Paul M Thompson, Carrie E Bearden
Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11...
May 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28534656/early-development-in-rett-syndrome-the-benefits-and-difficulties-of-a-birth-cohort-approach
#20
Peter B Marschik, Sanne Lemcke, Christa Einspieler, Dajie Zhang, Sven Bölte, Gillian S Townend, Marlene B Lauritsen
PURPOSES: Typically, early (pre-diagnostic) development in individuals later diagnosed with Rett syndrome (RTT) has been investigated retrospectively using parent reports, medical records and analysis of home videos. In recent years, prospective research designs have been increasingly applied to the investigation of early development in individuals with late phenotypical onset disorders, for example, autism spectrum disorder. METHODS: In this study, data collected by the Danish National Birth Cohort lent itself to prospective exploration of the early development of RTT, in particular early motor-, speech-language, and socio-communicative behaviors, mood, and sleep...
May 23, 2017: Developmental Neurorehabilitation
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