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Autism & Language

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https://www.readbyqxmd.com/read/29145823/dbmdega-a-database-for-meta-analysis-of-differentially-expressed-genes-in-autism-spectrum-disorder
#1
Shuyun Zhang, Libin Deng, Qiyue Jia, Shaoting Huang, Junwang Gu, Fankun Zhou, Meng Gao, Xinyi Sun, Chang Feng, Guangqin Fan
BACKGROUND: Autism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders. Individual studies on gene expression in ASD cannot provide clear consensus conclusions. Therefore, a systematic review to synthesize the current findings from brain tissues and a search tool to share the meta-analysis results are urgently needed. METHODS: Here, we conducted a meta-analysis of brain gene expression profiles in the current reported human ASD expression datasets (with 84 frozen male cortex samples, 17 female cortex samples, 32 cerebellum samples and 4 formalin fixed samples) and knock-out mouse ASD model expression datasets (with 80 collective brain samples)...
November 16, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#2
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29132226/investigating-the-relationship-between-language-and-picture-understanding-in-children-with-autism-spectrum-disorder
#3
Calum Hartley, Alice Trainer, Melissa L Allen
Previous studies report that minimally verbal children with autism spectrum disorder show impaired picture comprehension when matched to typically developing controls on language comprehension. Here, we compare both picture comprehension and picture production abilities in linguistically delayed children with autism spectrum disorder and typically developing controls matched on language comprehension and language production. Participants were 20 children with autism spectrum disorder ( M age: 11.2 years) and 20 typically developing children ( M age: 4...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29132079/absence-of-delay-in-spontaneous-use-of-gestures-in-spoken-narratives-among-children-with-autism-spectrum-disorders
#4
Miranda Kit-Yi Wong, Wing-Chee So
BACKGROUND: Gestures are spontaneous hand movements produced when speaking. Despite gestures being of communicative significance, little is known about the gestural production in spoken narratives in six- to 12-year-old children with Autism Spectrum Disorders (ASD). AIMS: The present study examined whether six- to 12-year-old children with ASD have a delay in gestural production in a spoken narrative task, in comparison to their typically-developing (TD) peers. METHODS AND PROCEDURES: Six- to-12-year-old children with ASD (N=14) and their age- and IQ-matched TD peers (N=12) narrated a story, which could elicit spontaneous speech and gestures...
November 10, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29126347/language-profiles-in-young-children-with-autism-spectrum-disorder-a-community-sample-using-multiple-assessment-instruments
#5
Rose Nevill, Darren Hedley, Mirko Uljarević, Ensu Sahin, Johanna Zadek, Eric Butter, James A Mulick
This study investigated language profiles in a community-based sample of 104 children aged 1-3 years who had been diagnosed with autism spectrum disorder using Diagnostic and Statistical Manual of Mental Disorders (5th ed.) diagnostic criteria. Language was assessed with the Mullen scales, Preschool Language Scale, fifth edition, and Vineland-II parent-report. The study aimed to determine whether the receptive-to-expressive language profile is independent from the assessment instrument used, and whether nonverbal cognition, early communicative behaviors, and autism spectrum disorder symptoms predict language scores...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29123465/autoimmunity-as-a-driving-force-of-cognitive-evolution
#6
Serge Nataf
In the last decades, increasingly robust experimental approaches have formally demonstrated that autoimmunity is a physiological process involved in a large range of functions including cognition. On this basis, the recently enunciated "brain superautoantigens" theory proposes that autoimmunity has been a driving force of cognitive evolution. It is notably suggested that the immune and nervous systems have somehow co-evolved and exerted a mutual selection pressure benefiting to both systems. In this two-way process, the evolutionary-determined emergence of neurons expressing specific immunogenic antigens (brain superautoantigens) has exerted a selection pressure on immune genes shaping the T-cell repertoire...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29122040/video-modeling-for-the-development-of-personal-hygiene-skills-in-youth-with-autism-spectrum-disorder
#7
S Piccin, A Crippa, M Nobile, A Y Hardan, P Brambilla
Autism spectrum disorder (ASD) is a neurodevelopmental disorder mainly characterised by deficits in social communication as well as by narrow patterns of behaviour and interests (American Psychiatric Association, 2013), often accompanied by language, intellectual and sensory impairments. The severity of these impairments may lead to deficits in the development of daily living activities such as simple meal preparation and feeding, community skills (e.g. buying groceries), personal care (e.g. dressing) and personal hygiene skills (bathing, toileting, hand washing, teeth brushing) needed for independence...
November 10, 2017: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/29116187/a-translational-study-on-looming-evoked-defensive-response-and-the-underlying-subcortical-pathway-in-autism
#8
Yu Hu, Zhuoming Chen, Lu Huang, Yue Xi, Bingxiao Li, Hong Wang, Jiajian Yan, Tatia M C Lee, Qian Tao, Kwok-Fai So, Chaoran Ren
Rapidly approaching objects indicating threats can induce defensive response through activating a subcortical pathway comprising superior colliculus (SC), lateral posterior nucleus (LP), and basolateral amygdala (BLA). Abnormal defensive response has been reported in autism, and impaired synaptic connections could be the underlying mechanism. Whether the SC-LP-BLA pathway processes looming stimuli abnormally in autism is not clear. Here, we found that looming-evoked defensive response is impaired in a subgroup of the valproic acid (VPA) mouse model of autism...
November 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29090517/increased-glia-density-in-the-caudate-nucleus-in-williams-syndrome-implications-for-frontostriatal-dysfunction-in-autism
#9
Kari L Hanson, Caroline H Lew, Branka Hrvoj-Mihic, Kimberly M Groeniger, Eric Halgren, Ursula Bellugi, Katerina Semendeferi
Williams syndrome (WS) is a rare neurodevelopmental disorder with a well-described, known genetic etiology. In contrast to Autism Spectrum Disorders (ASD), WS has a unique phenotype characterized by global reductions in IQ and visuospatial ability, with relatively preserved language function, enhanced reactivity to social stimuli and music, and an unusual eagerness to interact socially with strangers. A duplication of the deleted region in WS has been implicated in a subset of ASD cases, defining a spectrum of genetic and behavioral variation at this locus defined by these opposite extremes in social behavior...
November 1, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/29090079/prospective-investigation-of-foxp1-syndrome
#10
Paige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S Wallace, Heather C Mefford, Raphael A Bernier, Alexander Kolevzon, Joseph D Buxbaum
BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29089535/language-and-music-phrase-boundary-processing-in-autism-spectrum-disorder-an-erp-study
#11
John DePriest, Anastasia Glushko, Karsten Steinhauer, Stefan Koelsch
Autism spectrum disorder (ASD) is frequently associated with communicative impairment, regardless of intelligence level or mental age. Impairment of prosodic processing in particular is a common feature of ASD. Despite extensive overlap in neural resources involved in prosody and music processing, music perception seems to be spared in this population. The present study is the first to investigate prosodic phrasing in ASD in both language and music, combining event-related brain potential (ERP) and behavioral methods...
October 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29081756/the-locus-preservation-hypothesis-shared-linguistic-profiles-across-developmental-disorders-and-the-resilient-part-of-the-human-language-faculty
#12
Evelina Leivada, Maria Kambanaros, Kleanthes K Grohmann
Grammatical markers are not uniformly impaired across speakers of different languages, even when speakers share a diagnosis and the marker in question is grammaticalized in a similar way in these languages. The aim of this work is to demarcate, from a cross-linguistic perspective, the linguistic phenotype of three genetically heterogeneous developmental disorders: specific language impairment, Down syndrome, and autism spectrum disorder. After a systematic review of linguistic profiles targeting mainly English-, Greek-, Catalan-, and Spanish-speaking populations with developmental disorders (n = 880), shared loci of impairment are identified and certain domains of grammar are shown to be more vulnerable than others...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/29074403/speech-perception-in-autism-spectrum-disorder-an-activation-likelihood-estimation-meta-analysis
#13
Ana Tryfon, Nicholas E V Foster, Megha Sharda, Krista L Hyde
Autism spectrum disorder (ASD) is often characterized by atypical language profiles and auditory and speech processing. These can contribute to aberrant language and social communication skills in ASD. The study of the neural basis of speech perception in ASD can serve as a potential neurobiological marker of ASD early on, but mixed results across studies renders it difficult to find a reliable neural characterization of speech processing in ASD. To this aim, the present study examined the functional neural basis of speech perception in ASD versus typical development (TD) using an activation likelihood estimation (ALE) meta-analysis of 18 qualifying studies...
October 23, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/29071565/assessing-personal-constructs-of-adolescents-with-autism-spectrum-disorder-a-person-centered-measure-of-social-cognition
#14
Sean Hess, Trisha Self, Anthony DiLollo
Many protocols assessing social communication skills of adolescents with autism spectrum disorder (ASD) are based on behavioral observations. It has been suggested, however, that social cognition encompasses processes underlying observable behaviors. Such processes include personal constructs, which can be assessed using repertory grids. Personal constructs of five adolescents with ASD with average or above average intelligence and receptive and expressive language skills were explored using repertory grids in this study...
October 25, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29058782/the-relation-between-walking-and-language-in-infant-siblings-of-children-with-autism-spectrum-disorder
#15
Kelsey L West, Nina B Leezenbaum, Jessie B Northrup, Jana M Iverson
In typical development, walk onset is accompanied by increased language growth (e.g., Walle & Campos, 2014). The present study explored whether this relation may be disrupted in the infant siblings of children with autism spectrum disorder (ASD; heightened risk of receiving an ASD diagnosis; HR), a population exhibiting substantial variability in motor and language development (e.g., Gamliel, Yirmiya, & Sigman, 2007; Landa & Garrett-Mayer, 2006). Receptive and expressive language were examined across the transition to walking in three groups of HR infants (no diagnosis, language delay, and ASD; N = 91, 8-18 months) and in infants with no family history of ASD (N = 25; 9-15 months)...
October 23, 2017: Child Development
https://www.readbyqxmd.com/read/29052806/profiling-autism-symptomatology-an-exploration-of-the-q-asc-parental-report-scale-in-capturing-sex-differences-in-autism
#16
Sarah Ormond, Charlotte Brownlow, Michelle Sarah Garnett, Agnieszka Rynkiewicz, Tony Attwood
The Questionnaire for Autism Spectrum Conditions (Q-ASC) was developed by Attwood et al. (2011) to identify gender-sensitive profiles of autism symptomatology; prioritise and adjust the direction of clinical interventions; and support positive psychosocial outcomes and prognosis into adulthood. The current research piloted the Q-ASC with parents of 238 children with a clinical diagnosis of ASD-Level 1 (without intellectual or language impairment). Data analysis revealed eight interpretable and reliable components of the Q-ASC using Principle components analysis...
October 20, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29052348/shank3-deficient-rats-exhibit-degraded-cortical-responses-to-sound
#17
Crystal T Engineer, Kimiya C Rahebi, Michael S Borland, Elizabeth P Buell, Kwok W Im, Linda G Wilson, Pryanka Sharma, Sven Vanneste, Hala Harony-Nicolas, Joseph D Buxbaum, Michael P Kilgard
Individuals with SHANK3 mutations have severely impaired receptive and expressive language abilities. While brain responses are known to be abnormal in these individuals, the auditory cortex response to sound has remained largely understudied. In this study, we document the auditory cortex response to speech and non-speech sounds in the novel Shank3-deficient rat model. We predicted that the auditory cortex response to sounds would be impaired in Shank3-deficient rats. We found that auditory cortex responses were weaker in Shank3 heterozygous rats compared to wild-type rats...
October 20, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29052014/predictive-validity-of-a-service-setting-based-measure-to-identify-infancy-mental-health-problems-a-population-based-cohort-study
#18
Janni Ammitzbøll, Lau Caspar Thygesen, Bjørn E Holstein, Anette Andersen, Anne Mette Skovgaard
Measures to identify infancy mental health problems are essential to guide interventions and reduce the risk of developmental psychopathology in early years. We investigated a new service-setting-based measure the Copenhagen Infant Mental Health Screening (CIMHS) within the general child health surveillance by community health nurses (CHN). The study population of 2973 infants was assessed by CIMHS at age 9-10 months. A subsample of 416 children was examined at age 1½ years, using parent interviews including the Child Behavior Checklist (CBCL 1½-5), Check List of Autism and Toddlers (CHAT), Infant-Toddler Symptom Checklist (ITSCL), and the Bayley Scales of Infant and Toddler Development (BSID) and observations of behavior, communication, and interaction...
October 20, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/29043919/beyond-survival-5-year-neurodevelopmental-follow-up-of-a-cohort-of-preterm-infants-in-colombo-sri-lanka
#19
S P Sumanasena, D V Vipulaguna, M M Mendis, N S Gunawardena
BACKGROUND: There is a lack of information on long-term neurodevelopmental outcome in preterm neonates in low- and middle-income countries. OBJECTIVES: To describe the developmental attainments of preterm neonates followed up for 5 years and to identify the risk factors for impairment. METHOD: A prospective descriptive cohort study was undertaken in neonates of 34 weeks gestation born within a period of 12 months at a single tertiary maternity and neonatal unit in Colombo, Sri Lanka...
October 18, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/29043156/transition-to-school-for-children-with-autism-spectrum-disorder-a-systematic-review
#20
Annabel Marsh, Vanessa Spagnol, Rachel Grove, Valsamma Eapen
AIM: To identify factors that promote a positive start to school for children with autism spectrum disorder (ASD). METHODS: Web of Science, MEDLINE, Scopus, and PsychINFO searches were conducted to identify literature published after 1991 and relevant to school transition processes in children with ASD. Twenty studies were deemed eligible for inclusion. These studies evaluated a range of factors including school readiness, parent and teacher perspectives on transition practices, characteristics of children with ASD that are associated with successful transition to school and the impact of school based intervention programs...
September 22, 2017: World Journal of Psychiatry
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