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Autism Spectrum Disorders

Pin Fee Chong, Hirotomo Saitsu, Yasunari Sakai, Toru Imagi, Ryoko Nakamura, Masaru Matsukura, Naomichi Matsumoto, Ryutaro Kira
SCN2A encodes the alpha-subunit of voltage-gated sodium channel, Nav1.2, which is highly expressed at an early stage of the postnatal brain. Genetic studies revealed that de novo heterozygous mutations of SCN2A caused severe developmental disorders in childhood, such as autism and epileptic encephalopathy. However, few reports have demonstrated the cases carrying segmental deletions at the SCN2A locus for those with epileptic disorders. In this study, we report a 1.8-year-old boy, who presented with West syndrome in infancy and developed the sequelae of psychomotor delay and autism...
June 13, 2018: Seizure: the Journal of the British Epilepsy Association
Joseph P Pillion, Dana Boatman-Reich, Barry Gordon
Atypical responses to sound are common in individuals with autism spectrum disorder (ASD), and growing evidence suggests an underlying auditory brainstem pathology. This review of the literature provides a comprehensive account of the structural and functional evidence for auditory brainstem abnormalities in ASD. The studies reviewed were published between 1975 and 2016 and were sourced from multiple online databases. Indices of both the quantity and quality of the studies reviewed are considered. Findings show converging evidence for auditory brainstem pathology in ASD, although the specific functions and anatomical structures involved remain equivocal...
June 2018: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
Luigi Russo, Francesco Craig, Marta Ruggiero, Claudio Mancuso, Rita Galluzzi, Alessandro Lorenzo, Isabella Fanizza, Antonio Trabacca
INTRODUCTION: Recent evidence suggests that impairments in social cognition are associated to the cognitive abilities needed to take several viewpoints in perceptual situations and body awareness. The aim of the current study was to investigate Visual Perspective Taking (VPT) and Body awareness performance in a group of children with Autism Spectrum Disorders (ASD) compared with a group of children with Intellectual Disability (ID) and typically developing (TD) children. METHODS: Our groups were administered an IQ test and a VPT task, and body awareness tests...
June 21, 2018: Cognitive Neuropsychiatry
Pilib Ó Broin, Michael V Beckert, Tomohisa Takahashi, Takeshi Izumi, Kenny Ye, Gina Kang, Patricia Pouso, Mackenzie Topolski, Jose L Pena, Noboru Hiroi
Neonatal vocalization is structurally altered in mouse models of autism spectrum disorder (ASD). Our published data showed that pup vocalization, under conditions of maternal separation, contains sequences whose alterations in a genetic mouse model of ASD impair social communication between pups and mothers. We describe details of a method which reveals the statistical structure of call sequences that are functionally critical for optimal maternal care. Entropy analysis determines the degree of non-random call sequencing...
June 2018: Current Protocols in Mouse Biology
Mohammad Nasser Saadatzi, Robert C Pennington, Karla C Welch, James H Graham
The authors combined virtual reality technology and social robotics to develop a tutoring system that resembled a small-group arrangement. This tutoring system featured a virtual teacher instructing sight words, and included a humanoid robot emulating a peer. The authors used a multiple-probe design across word sets to evaluate the effects of the instructional package on the explicit acquisition and vicarious learning of sight words instructed to three children with autism spectrum disorder (ASD) and the robot peer...
June 20, 2018: Journal of Autism and Developmental Disorders
C Enjey Lin, Robert Koegel
Restricted repetitive behaviors (RRB) are one of the core symptoms of autism spectrum disorder (ASD). Evidence suggests that higher-order RRB (H-RRB) are particularly challenging and can negatively impact family functioning (e.g., insistence on sameness, following idiosyncratic routines). The study examined the effects of a parent-implemented behavior intervention using a multiple baseline single case experimental design in three young children with ASD. The intervention involved self-management procedures and included principles of pivotal response treatment during which parents provided bids for children to vary from H-RRB and children obtained points for engaging in these other interests and activities...
June 20, 2018: Journal of Autism and Developmental Disorders
Rachel M Fenning, Jason K Baker, Jacquelyn Moffitt
Difficulties regulating emotion have been linked to comorbid psychopathology in children with autism spectrum disorder (ASD), but little empirical work has examined predictors of dysregulation in this population. Forty-six families of children with ASD participated in a laboratory visit that included direct measurement of children's IQ, ASD symptoms, and psychophysiological reactivity. Child emotion regulation was observed during independent and co-regulatory tasks, and parental scaffolding was rated in the dyadic context...
June 20, 2018: Journal of Autism and Developmental Disorders
Corinna Pehrs, Jamil Zaki, Liila Taruffi, Lars Kuchinke, Stefan Koelsch
People are better able to empathize with others when they are given information concerning the context driving that person's experiences. This suggests that people draw on prior memories when empathizing, but the mechanisms underlying this connection remain largely unexplored. The present study investigates how variations in episodic information shape the emotional response towards a movie character. Episodic information is either absent or provided by a written context preceding empathic film clips. It was shown that sad context information increases empathic concern for a movie character...
June 20, 2018: Scientific Reports
Eric Fombonne
The first autism surveys were simple head counts of children already diagnosed with a severe autism phenotype and residing in small, circumscribed geographical areas. Prevalence was low, ranging from 0.4 to 2/1,000 in the 1960's and 1970's. Today, the methodology of surveys has become more complex; studies include large populations, multiple sites, stratified samples and rely on intricate sets of screening activities followed by some form of diagnostic confirmation procedures. Yet, and as surprising as it may be, there is no standardization of autism survey methodology...
July 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
Deb Chamberlain, Jennifer Parent-Nichols
No abstract text is available yet for this article.
July 2018: Pediatric Physical Therapy
Marcelo R Rosales, Jennifer Romack, Rosa Angulo-Barroso
PURPOSE: The aim was to explore the timing and duration of muscle activation during a landing task in children with autism spectrum disorder (ASD), and compare their responses to those of children who are developing typically (TD). METHODS: Six children (ages 3-4.5 years), half with ASD, hung from a vertical bar, landed, and reacted to a light cue that signaled the child to run to the right or left or to stay in place. Electromyography and kinematics were recorded and compared between groups...
July 2018: Pediatric Physical Therapy
Nicholas Kelly, Helen Carey
No abstract text is available yet for this article.
July 2018: Pediatric Physical Therapy
Laura C Chezan, Erik Drasgow, Gabriela Z McWhorter, Kristine I P Starkey, Brooke M Hurdle
In this study, we extended the literature on the generalization of negatively-reinforced mands in three young children with autism spectrum disorder (ASD). First, we used example and nonexample stimuli embedded in mand training to teach a new, socially appropriate, negatively-reinforced mand to reject unpreferred food items while continuously assessing mand discrimination. Second, we evaluated the discriminated generalization of the newly acquired mand by using untrained example and nonexample stimuli. Finally, we conducted maintenance probes to examine if the new, discriminated mand occurred over time in the absence of training...
June 1, 2018: Behavior Modification
Aude Paquet, Bertrand Olliac, Bernard Golse, Laurence Vaivre-Douret
INTRODUCTION: Several authors have suggested the existence of motor disorders associated with developmental coordination disorder (DCD) in individuals with autism spectrum disorder (ASD). However, there are few comparative studies of psychomotor profiles that include assessments of neurological soft signs in children with ASD or DCD. We used a neuropsychomotor assessment for children with ASD from a standardized neurodevelopmental examination to understand the nature of the difficulties these children encounter...
June 20, 2018: Journal of Clinical and Experimental Neuropsychology
Zhi-Wei Zhu, Yan Jin, Ling-Ling Wu, Xiao-Lin Liu
No abstract text is available yet for this article.
June 2018: World Journal of Pediatrics: WJP
C C A H Bours, M J Bakker-Huvenaars, J Tramper, N Bielczyk, F Scheepers, K S Nijhof, A N Baanders, N N J Lambregts-Rommelse, P Medendorp, J C Glennon, J K Buitelaar
Autism Spectrum Disorder (ASD), Oppositional Defiant Disorder (ODD), and Conduct Disorder (CD) are often associated with emotion recognition difficulties. This is the first eye-tracking study to examine emotional face recognition (i.e., gazing behavior) in a direct comparison of male adolescents with Autism Spectrum Disorder or Oppositional Defiant Disorder/Conduct Disorder, and typically developing (TD) individuals. We also investigate the role of psychopathic traits, callous-unemotional (CU) traits, and subtypes of aggressive behavior in emotional face recognition...
June 19, 2018: European Child & Adolescent Psychiatry
Alcy Torres, Catherine A Brownstein, Sahil K Tembulkar, Kelsey Graber, Casie Genetti, Robin J Kleiman, Kathleen J Sweadner, Chrystal Mavros, Kevin X Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B Agrawal, Jiahai Shi, Alan H Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A Gahl, Catherine M Biggs, Kathryn J Swoboda, Gerard T Berry, Joseph Gonzalez-Heydrich
Complex phenotypes may represent novel syndromes that are the composite interaction of several genetic and environmental factors. We describe an 9-year old male with high functioning autism spectrum disorder and Muckle-Wells syndrome who at age 5  years of age manifested perseverations that interfered with his functioning at home and at school. After age 6, he developed intermittent episodes of fatigue and somnolence lasting from hours to weeks that evolved over the course of months to more chronic hypersomnia...
September 2018: Molecular Genetics and Metabolism Reports
John F Stins, Claudia Emck
Children with autism not only have limited social and communicative skills but also have motor abnormalities, such as poor timing and coordination of balance. Moreover, impaired gross motor skills hamper participation with peers. Balance control is interesting from a cognitive science perspective, since it involves a complex interplay between information processing, motor planning, and timing and sequencing of muscle movements. In this paper, we discuss the background of motor problems in children with autism, focusing on how posture is informed by sensory information processing...
2018: Frontiers in Psychology
Megan M Wickens, Debra A Bangasser, Lisa A Briand
Alterations in glutamate, the primary excitatory neurotransmitter in the brain, are implicated in several psychiatric diseases. Many of these psychiatric diseases display epidemiological sex differences, with either males or females exhibiting different symptoms or disease prevalence. However, little work has considered the interaction of disrupted glutamatergic transmission and sex on disease states. This review describes the clinical and preclinical evidence for these sex differences with a focus on two conditions that are more prevalent in women: Alzheimer's disease and major depressive disorder, and three conditions that are more prevalent in men: schizophrenia, autism spectrum disorder, and attention deficit hyperactivity disorder...
2018: Frontiers in Molecular Neuroscience
Chuntao Zhao, Chen Dong, Magali Frah, Yaqi Deng, Corentine Marie, Feng Zhang, Lingli Xu, Zhixing Ma, Xinran Dong, Yifeng Lin, Scott Koenig, Brahim Nait-Oumesmar, Donna M Martin, Laiman N Wu, Mei Xin, Wenhao Zhou, Carlos Parras, Q Richard Lu
Disruptive mutations in chromatin remodeler CHD8 cause autism spectrum disorders, exhibiting widespread white matter abnormalities; however, the underlying mechanisms remain elusive. We show that cell-type specific Chd8 deletion in oligodendrocyte progenitors, but not in neurons, results in myelination defects, revealing a cell-intrinsic dependence on CHD8 for oligodendrocyte lineage development, myelination and post-injury remyelination. CHD8 activates expression of BRG1-associated SWI/SNF complexes that in turn activate CHD7, thus initiating a successive chromatin remodeling cascade that orchestrates oligodendrocyte lineage progression...
June 18, 2018: Developmental Cell
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