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https://www.readbyqxmd.com/read/28225070/speech-specific-categorical-perception-deficit-in-autism-an-event-related-potential-study-of-lexical-tone-processing-in-mandarin-speaking-children
#1
Xiaoyue Wang, Suiping Wang, Yuebo Fan, Dan Huang, Yang Zhang
Recent studies reveal that tonal language speakers with autism have enhanced neural sensitivity to pitch changes in nonspeech stimuli but not to lexical tone contrasts in their native language. The present ERP study investigated whether the distinct pitch processing pattern for speech and nonspeech stimuli in autism was due to a speech-specific deficit in categorical perception of lexical tones. A passive oddball paradigm was adopted to examine two groups (16 in the autism group and 15 in the control group) of Chinese children's Mismatch Responses (MMRs) to equivalent pitch deviations representing within-category and between-category differences in speech and nonspeech contexts...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28224345/electrophysiological-endophenotypes-and-the-error-related-negativity-ern-in-autism-spectrum-disorder-a-family-study
#2
Ann Clawson, Mikle South, Scott A Baldwin, Michael J Larson
We examined the error-related negativity (ERN) as an endophenotype of ASD by comparing the ERN in families of ASD probands to control families. We hypothesized that ASD probands and families would display reduced-amplitude ERN relative to controls. Participants included 148 individuals within 39 families consisting of a mother, father, sibling, and proband. Robust ANOVAs revealed non-significant differences in ERN amplitude and behavioral performance among ASD probands relative to control youth. In subsequent multiple regression analyses group and kinship (proband, sibling, mother, father) did not significantly predict ΔERN (error minus correct ERN) or behavioral performance...
February 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28224041/a-7q31-33q32-1-microdeletion-including-lrrc4-and-grm8-is-associated-with-severe-intellectual-disability-and-characteristics-of-autism
#3
Noriko Sangu, Keiko Shimojima, Yuya Takahashi, Tsukasa Ohashi, Jun Tohyama, Toshiyuki Yamamoto
A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of LRRC4 may be responsible for the severe ID and characteristics of autism observed in the present patient.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28223033/children-with-asd-show-links-between-aberrant-sound-processing-social-symptoms-and-atypical-auditory-interhemispheric-and-thalamocortical-functional-connectivity
#4
Annika C Linke, R Joanne Jao Keehn, Ellyn B Pueschel, Inna Fishman, Ralph-Axel Müller
Autism spectrum disorder (ASD) is a complex and prevalent neurodevelopmental disorder characterized by social and communicative deficits, as well as repetitive behaviors and atypical sensitivity to sensory stimulation. Alterations in network connectivity are widely recognized, but their interplay with social and sensory symptoms remains largely unclear. Here, functional magnetic resonance imaging and diagnostic and behavioral assessments were used in a cohort of children and adolescents with ASD (n=40) and matched typically developing (TD, n=38) controls to examine the relation between auditory processing, interhemispheric and thalamocortical network connectivity, and social-behavioral symptom severity...
January 16, 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/28222761/new-evidences-on-the-altered-gut-microbiota-in-autism-spectrum-disorders
#5
Francesco Strati, Duccio Cavalieri, Davide Albanese, Claudio De Felice, Claudio Donati, Joussef Hayek, Olivier Jousson, Silvia Leoncini, Daniela Renzi, Antonio Calabrò, Carlotta De Filippo
BACKGROUND: Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by social and behavioural impairments. In addition to neurological symptoms, ASD subjects frequently suffer from gastrointestinal abnormalities, thus implying a role of the gut microbiota in ASD gastrointestinal pathophysiology. RESULTS: Here, we characterized the bacterial and fungal gut microbiota in a cohort of autistic individuals demonstrating the presence of an altered microbial community structure...
February 22, 2017: Microbiome
https://www.readbyqxmd.com/read/28222093/active-zone-proteins-are-transported-via-distinct-mechanisms-regulated-by-par-1-kinase
#6
Kara R Barber, Julia Tanquary, Keegan Bush, Amanda Shaw, Michael Woodson, Michael Sherman, Yogesh P Wairkar
Disruption of synapses underlies a plethora of neurodevelopmental and neurodegenerative disease. Presynaptic specialization called the active zone plays a critical role in the communication with postsynaptic neuron. While the role of many proteins at the active zones in synaptic communication is relatively well studied, very little is known about how these proteins are transported to the synapses. For example, are there distinct mechanisms for the transport of active zone components or are they all transported in the same transport vesicle? Is active zone protein transport regulated? In this report we show that overexpression of Par-1/MARK kinase, a protein whose misregulation has been implicated in Autism spectrum disorders (ASDs) and neurodegenerative disorders, lead to a specific block in the transport of an active zone protein component- Bruchpilot at Drosophila neuromuscular junctions...
February 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28221900/mental-health-disorders-associated-with-foodborne-pathogens
#7
Declan J Bolton, Lucy J Robertson
Human infections with foodborne pathogenic organisms are relatively well described in terms of their overt physical symptoms, such as diarrhea, abdominal cramps, vomiting, fever, and associated sequelae. Indeed, some of these are key for diagnosis and treatment, although it should be noted that, for some foodborne pathogens, the physical symptoms might be more diffuse, particularly those associated with some of the foodborne parasites. In contrast, the impact of these pathogens on mental health is less well described, and symptoms such as depression, anxiety, and general malaise are usually ignored when foodborne infections are recorded...
November 2016: Journal of Food Protection
https://www.readbyqxmd.com/read/28221363/premature-primary-tooth-eruption-in-cognitive-motor-delayed-adnp-mutated-children
#8
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone
A major flaw in autism spectrum disorder (ASD) management is late diagnosis. Activity-dependent neuroprotective protein (ADNP) is a most frequent de novo mutated ASD-related gene. Functionally, ADNP protects nerve cells against electrical blockade. In mice, complete Adnp deficiency results in dysregulation of over 400 genes and failure to form a brain. Adnp haploinsufficiency results in cognitive and social deficiencies coupled to sex- and age-dependent deficits in the key microtubule and ion channel pathways...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28219082/growth-of-expressive-syntax-in-children-with-fragile-x-syndrome
#9
Rouzana Komesidou, Nancy C Brady, Kandace Fleming, Amy Esplund, Steven F Warren
Purpose: This research explored syntactic growth in children with fragile X syndrome (FXS) over a 5-year period, and variability in growth in relation to autism symptoms, nonverbal cognition, maternal responsivity, and gender. Method: Language samples at 4 time points from 39 children with FXS, 31 boys and 8 girls, were analyzed using the Index of Productive Syntax (Scarborough, 1990) and mean length of utterance (Brown, 1973). The degree of autism symptoms was evaluated using the Childhood Autism Rating Scale (Schopler, Reichler, & Renner, 1988) at the first time point...
February 1, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28218493/improving-vision-awareness-in-autism-services-evaluation-of-a-dedicated-education-programme-for-support-practitioners
#10
Joseph J Long, Maggie Butchart, Michael Brown, Janice Bain, Anne McMillan, Thanos Karatzias
BACKGROUND: The research reported here sought to evaluate whether a dedicated education programme in vision awareness improved the knowledge and skills of autism support practitioners in identifying visual impairment in autistic people with intellectual disabilities and providing better support to those individuals identified as visually impaired. METHODS: Researchers undertook a mixed methods evaluation. A survey questionnaire was devised and administered before and after training and focus groups were undertaken in order to gain qualitative data relating how practitioners implemented their learning in practice...
February 20, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28218269/enhanced-expression-of-adcy1-underlies-aberrant-neuronal-signalling-and-behaviour-in-a-syndromic-autism-model
#11
Ferzin Sethna, Wei Feng, Qi Ding, Alfred J Robison, Yue Feng, Hongbing Wang
Fragile X syndrome (FXS), caused by the loss of functional FMRP, is a leading cause of autism. Neurons lacking FMRP show aberrant mRNA translation and intracellular signalling. Here, we identify that, in Fmr1 knockout neurons, type 1 adenylyl cyclase (Adcy1) mRNA translation is enhanced, leading to excessive production of ADCY1 protein and insensitivity to neuronal stimulation. Genetic reduction of Adcy1 normalizes the aberrant ERK1/2- and PI3K-mediated signalling, attenuates excessive protein synthesis and corrects dendritic spine abnormality in Fmr1 knockout mice...
February 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28215162/gut-brain-axis-role-of-lipids-in-the-regulation-of-inflammation-pain-and-cns-diseases
#12
Roberto Russo, Claudia Cristiano, Carmen Avagliano, Carmen De Caro, Giovanna La Rana, Giuseppina Mattace Raso, Roberto Berni Canani, Rosaria Meli, Antonio Calignano
The human gut is a composite anaerobic environment with a large, diverse and dynamic enteric microbiota, represented by more than 100 trillion microorganisms, including at least 1000 distinct species. The discovery that a different microbial composition can influence behavior and cognition, and in turn the nervous system can indirectly influence enteric microbiota composition, has significantly contributed to establish the well-accepted concept of gut-brain axis. This hypothesis is supported by several evidence showing mutual mechanisms, which involve the vague nerve, the immune system, the hypothalamic-pituitary-adrenal (HPA) axis modulation and the bacteria-derived metabolites...
February 16, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28215110/patients-family-members-and-professional-carers-experiences-of-psychoeducational-multifamily-groups-for-participants-with-intellectual-disabilities-and-mental-illness
#13
Trine Lise Bakken, Inger-Lise Sundby, Gunn Helene Klevmoen
There is a dearth of articles addressing psychoeducational multifamily groups for adults with intellectual disabilities. The objective of this study is to investigate the participants' experiences of being part of a group like this. The group intervention had been slightly modified due to the participants' intellectual disabilities. Four patients, their close relatives, and community professional caregivers were interviewed using a semi-structured scheme. The four patients had participated in different groups...
February 2017: Issues in Mental Health Nursing
https://www.readbyqxmd.com/read/28213805/an-overview-of-autism-spectrum-disorder-heterogeneity-and-treatment-options
#14
REVIEW
Anne Masi, Marilena M DeMayo, Nicholas Glozier, Adam J Guastella
Since the documented observations of Kanner in 1943, there has been great debate about the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known as autism spectrum disorder (ASD). Reflecting this complicated history, there has been continual refinement from DSM-III with 'Infantile Autism' to the current DSM-V diagnosis. The disorder is now widely accepted as a complex, pervasive, heterogeneous condition with multiple etiologies, sub-types, and developmental trajectories. Diagnosis remains based on observation of atypical behaviors, with criteria of persistent deficits in social communication and restricted and repetitive patterns of behavior...
February 17, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28213063/impaired-spatial-performance-in-cerebellar-deficient-lurcher-mice-is-not-associated-with-their-abnormal-stress-response
#15
Jan Tuma, Yaroslav Kolinko, Dana Jelinkova, Pascal Hilber, Jan Cendelin
Both humans and laboratory animals suffering from cerebellar lesions exhibit cognitive as well as many emotional and behavioral abnormalities. These latter have been already observed in the cerebellar mutant mice currently used to highlight some aspect of autism spectrum disorders. The aim of this study was to investigate the influence of cerebellar-related stress response abnormalities on spatial learning and memory. Cerebellar-deficient Lurcher mutant mice were exposed to water environment without active escape possibility and then tested for spatial learning in the Morris water maze...
February 14, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/28211940/instructive-feedback-embedded-within-group-instruction-for-children-diagnosed-with-autism-spectrum-disorder
#16
Justin B Leaf, Joseph H Cihon, Aditt Alcalay, Erin Mitchell, Donna Townley-Cochran, Kevin Miller, Ronald Leaf, Mitchell Taubman, John McEachin
The present study evaluated the effects of instructive feedback embedded within a group discrete trial teaching to teach tact relations to nine children diagnosed with autism spectrum disorder using a nonconcurrent multiple-baseline design. Dependent variables included correct responses for: primary targets (directly taught), secondary targets (taught via instructive feedback), primary observational targets (directly taught to other members of the group), and secondary observational targets (taught via instructive feedback provided to other members of the group)...
February 17, 2017: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/28211841/predictors-of-employment-status-among-adults-with-autism-spectrum-disorder
#17
Alisha Ohl, Mira Grice Sheff, Sarah Little, Jamie Nguyen, Kelly Paskor, Aliza Zanjirian
BACKGROUND: In the United States, adults with Autism Spectrum Disorder (ASD) experience high rates of unemployment and underemployment in relation to adults with other disabilities and the general population. Yet there is little research examining their employment experiences and the predictors of employment status. OBJECTIVE: The purpose of this study was to examine the employment characteristics and histories of both employed and unemployed adults with ASD, and the factors that contributed to their employment status...
February 17, 2017: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://www.readbyqxmd.com/read/28211606/nrf2-a-novel-therapeutic-target-in-fragile-x-syndrome-is-modulated-by-nnz2566
#18
Robert M J Deacon, Michael J Hurley, Camila Martínez Rebolledo, Mike Snape, Francisco J Altimiras, Leandro Farías, Michael Pino, Rodolfo Biekofsky, Larry Glass, Patricia Cogram
Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP). Among these disorders is fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autism. Progress in basic neuroscience has led to identification of molecular targets for treatment in FXS; however, there is a gap in translation to targeted therapies in humans. The present study introduces a novel therapeutic target for FXS: nuclear factor (erythroid-derived 2)-like 2 (Nrf2), a transcription factor known to induce expression of over 100 cytoprotective genes...
February 17, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28211449/translational-use-of-event-related-potentials-to-assess-circuit-integrity-in-asd
#19
REVIEW
Meera E Modi, Mustafa Sahin
Deficits in social cognition are the defining characteristic of autism spectrum disorder (ASD). Social cognition requires the integration of several neural circuits in a time-sensitive fashion, so impairments in social interactions could arise as a result of alterations in network connectivity. Electroencephalography (EEG) has revealed abnormalities in event related potentials (ERPs) evoked by auditory and visual sensory stimuli in humans with ASD, indicating disruption of neural connectivity. Similar abnormalities in sensory-evoked ERPs have been observed in animal models of ASD, suggesting that ERPs have the potential to provide a translational biomarker of the disorder...
February 17, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28211248/anesthetic-considerations-for-pediatric-electroconvulsive-therapy
#20
REVIEW
Andrew D Franklin, Jenna H Sobey, Eric T Stickles
Electroconvulsive therapy is being used more frequently in the treatment of many chronic and acute psychiatric illnesses in children. The most common psychiatric indications for pediatric electroconvulsive therapy are refractory depression, bipolar disorder, schizophrenia, catatonia, and autism. In addition, a relatively new indication is the treatment of pediatric refractory status epilepticus. The anesthesiologist may be called upon to assist in the care of this challenging and vulnerable patient population...
February 17, 2017: Paediatric Anaesthesia
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