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https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#1
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
November 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29131901/comparison-of-foveal-macular-and-peripapillary-intraretinal-thicknesses-between-autism-spectrum-disorder-and-neurotypical-subjects
#2
José Javier García-Medina, María García-Piñero, Mónica Del-Río-Vellosillo, Jesarán Fares-Valdivia, Ana Belén Ragel-Hernández, Salvador Martínez-Saura, María Dolores Cárcel-López, Vicente Zanon-Moreno, María Dolores Pinazo-Duran, María Paz Villegas-Pérez
Purpose: To compare thicknesses of intraretinal layers segmented by spectral-domain optical coherence tomography (SD-OCT) between autism spectrum disorder (ASD) and neurotypical (NT) individuals. Methods: We performed 2 scans on 108 eyes from 54 participants (27 high-functioning ASD and 27 age- and sex-matched NT subjects): macular fast volume and peripapillary retinal nerve fiber layer (pRNFL). Macula was automatically segmented. The mean foveal and macular thickness of nine different layers and the thickness of nine pRNFL sectors were considered...
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29128445/the-promise-of-induced-pluripotent-stem-cells-for-neurodevelopmental-disorders
#3
REVIEW
Katrin Linda, Carol Fiuza, Nael Nadif Kasri
A major challenge in clinical genetics and medicine is represented by genetically and phenotypically highly diverse neurodevelopmental disorders, like for example intellectual disability and autism. Intellectual disability is characterized by substantial limitations in cognitive function and adaptive behaviour. At the cellular level, this is reflected by deficits in synaptic structure and plasticity and therefore has been coined as a synaptic disorder or "synaptopathy". In this review, we summarize the findings from recent studies in which iPSCs have been used to model specific neurodevelopmental syndromes, including Fragile X syndrome, Rett syndrome, Williams-Beuren syndrome and Phelan-McDermid syndrome...
November 8, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29128334/a-map-of-human-mitochondrial-protein-interactions-linked-to-neurodegeneration-reveals-new-mechanisms-of-redox-homeostasis-and-nf-%C3%AE%C2%BAb-signaling
#4
Ramy H Malty, Hiroyuki Aoki, Ashwani Kumar, Sadhna Phanse, Shahreen Amin, Qingzhou Zhang, Zoran Minic, Florian Goebels, Gabriel Musso, Zhuoran Wu, Hosam Abou-Tok, Michael Meyer, Viktor Deineko, Sandy Kassir, Vishaldeep Sidhu, Matthew Jessulat, Nichollas E Scott, Xuejian Xiong, James Vlasblom, Bhanu Prasad, Leonard J Foster, Tiziana Alberio, Barbara Garavaglia, Haiyuan Yu, Gary D Bader, Ken Nakamura, John Parkinson, Mohan Babu
Mitochondrial protein (MP) dysfunction has been linked to neurodegenerative disorders (NDs); however, the discovery of the molecular mechanisms underlying NDs has been impeded by the limited characterization of interactions governing MP function. Here, using mass spectrometry (MS)-based analysis of 210 affinity-purified mitochondrial (mt) fractions isolated from 27 epitope-tagged human ND-linked MPs in HEK293 cells, we report a high-confidence MP network including 1,964 interactions among 772 proteins (>90% previously unreported)...
November 7, 2017: Cell Systems
https://www.readbyqxmd.com/read/29125540/is-high-folic-acid-intake-a-risk-factor-for-autism-a-review
#5
REVIEW
Darrell Wiens, M Catherine DeSoto
Folate is required for metabolic processes and neural development. Insuring its adequate levels for pregnant women through supplementation of grain-based foods with synthetic folic acid (FA) in order to prevent neural tube defects has been an ongoing public health initiative. However, because women are advised to take multivitamins containing FA before and throughout pregnancy, the supplementation together with natural dietary folates has led to a demographic with high and rising serum levels of unmetabolized FA...
November 10, 2017: Brain Sciences
https://www.readbyqxmd.com/read/29118110/cellular-functions-of-the-autism-risk-factor-ptchd1-in-mice
#6
David Tora, Andrea M Gomez, Jean-Francois Michaud, Patricia T Yam, Frédéric Charron, Peter Scheiffele
The gene PTCHD1 is mutated in patients with autism spectrum disorders (ASD) and intellectual disabilities (ID) and has been hypothesized to contribute to Sonic hedgehog (Shh) signaling and synapse formation. We identify a panel of Ptchd1 interacting proteins that include postsynaptic density proteins and the retromer complex, revealing a link to critical regulators of dendritic and postsynaptic trafficking. Ptchd1 knock-out male mice exhibit cognitive alterations, including defects in a novel object recognition task...
November 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29112191/identifying-specific-prefrontal-neurons-that-contribute-to-autism-associated-abnormalities-in-physiology-and-social-behavior
#7
A C Brumback, I T Ellwood, C Kjaerby, J Iafrati, S Robinson, A T Lee, T Patel, S Nagaraj, F Davatolhagh, V S Sohal
Functional imaging and gene expression studies both implicate the medial prefrontal cortex (mPFC), particularly deep-layer projection neurons, as a potential locus for autism pathology. Here, we explored how specific deep-layer prefrontal neurons contribute to abnormal physiology and behavior in mouse models of autism. First, we find that across three etiologically distinct models-in utero valproic acid (VPA) exposure, CNTNAP2 knockout and FMR1 knockout-layer 5 subcortically projecting (SC) neurons consistently exhibit reduced input resistance and action potential firing...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29104967/identifying-autism-from-resting-state-fmri-using-long-short-term-memory-networks
#8
Nicha C Dvornek, Pamela Ventola, Kevin A Pelphrey, James S Duncan
Functional magnetic resonance imaging (fMRI) has helped characterize the pathophysiology of autism spectrum disorders (ASD) and carries promise for producing objective biomarkers for ASD. Recent work has focused on deriving ASD biomarkers from resting-state functional connectivity measures. However, current efforts that have identified ASD with high accuracy were limited to homogeneous, small datasets, while classification results for heterogeneous, multi-site data have shown much lower accuracy. In this paper, we propose the use of recurrent neural networks with long short-term memory (LSTMs) for classification of individuals with ASD and typical controls directly from the resting-state fMRI time-series...
September 2017: Machine Learning in Medical Imaging
https://www.readbyqxmd.com/read/29092799/novel-drosophila-model-for-psychiatric-disorders-including-autism-spectrum-disorder-by-targeting-of-atp-binding-cassette-protein-a
#9
Ibuki Ueoka, Hitoshi Kawashima, Atsushi Konishi, Mikio Aoki, Ryo Tanaka, Hideki Yoshida, Toru Maeda, Mamiko Ozaki, Masamitsu Yamaguchi
Autism spectrum disorder (ASD) is characterized by persistent deficits in social communication and social interactions, as well as restricted, stereotyped patterns of behavior and interests. In addition, alterations in circadian sleep-wake rhythm are common in young children with ASD. Mutations in ATP binding cassette subfamily A member 13 (ABCA13) have been recently identified in a monkey that displays behavior associated with ASD. ABCA13, a member of the ABCA family of proteins, is predicted to transport lipid molecules and is expressed in the human trachea, testis, bone marrow, hippocampus, cortex, and other tissues...
October 29, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/29089535/language-and-music-phrase-boundary-processing-in-autism-spectrum-disorder-an-erp-study
#10
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/29083944/the-relation-between-emotional-intelligence-and-resilience-in-at-risk-populations
#11
Adam W McCrimmon, Emma A Climie, Stephany Huynh
PURPOSE: Resilience factors and their relation to emotional intelligence (EI) as a potential strength for children with attention-deficit/hyperactivity disorder (ADHD) or high-functioning autism spectrum disorder (HFASD) were investigated. Children with either ADHD or HFASD were hypothesized to demonstrate reduced EI and differential relations between EI and resilience as compared to typically developing (TD) children. METHODS: Fifty-four children aged 8-12 years (18 with ADHD, 18 with HFASD, and 18 TD controls) completed the Resilience Scales for Children and Adolescents and BarOn Emotional Quotient Inventory...
October 30, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29079199/chd8short-a-naturally-occurring-truncated-form-of-a-chromatin-remodeler-lacking-the-helicase-domain-is-a-potent-transcriptional-coregulator
#12
Gary R Kunkel, Jessica A Tracy, Frank L Jalufka, Arne C Lekven
Chromodomain-Helicase-DNA binding protein 8 (CHD8) is a member of a large family of eukaryotic ATP-dependent chromatin remodeling complexes. Loss of function alleles of human chd8 are correlated with autism spectrum disorder. The CHD subfamily members contain a tandem pair of chromodomains that are adjacent to a centrally located Snf2-like helicase domain. An alternatively spliced variant mRNA of CHD8 was identified years ago in mammals that encode a truncated form of the protein, called Duplin, that lacks the helicase domain and everything else in the carboxyl direction...
October 24, 2017: Gene
https://www.readbyqxmd.com/read/29076255/what-will-my-child-s-future-hold-phenotypes-of-intellectual-development-in-2-8-year-olds-with-autism-spectrum-disorder
#13
Marjorie Solomon, Ana-Maria Iosif, Vanessa P Reinhardt, Lauren E Libero, Christine W Nordahl, Sally Ozonoff, Sally J Rogers, David G Amaral
We examined phenotypes of autism spectrum disorder (ASD) based on trajectories of intellectual development from early (ages 2-3 ½) to middle (ages 5-8) childhood in a recent clinically ascertained cohort. Participants included 102 children (82 males) initially diagnosed with ASD from the Autism Phenome Project longitudinal sample. Latent class growth analysis was used to identify distinct IQ trajectories. Baseline and developmental course differences among groups were assessed using univariate techniques and repeated measures regression models, respectively...
October 27, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29074576/a-pre-synaptic-function-of-shank-protein-in-drosophila
#14
Song Wu, Guangming Gan, Zhiping Zhang, Jie Sun, Qifu Wang, Zhongbao Gao, Meixiang Li, Shan Jin, Juan Huang, Ulrich Thomas, Yong-Hui Jiang, Yan Li, Rui Tian, Yong Q Zhang
Human genetic studies support that loss of function mutations in the [highlight]SH[/highlight]3 domain and [highlight]ank[/highlight]yrin repeat containing family proteins (SHANK1-3), the large synaptic scaffolding proteins enriched at the postsynaptic density of excitatory synapses, are causative for autism spectrum disorder (ASD) and other neuropsychiatric disorders in humans. To better understand the in vivo functions of Shank and facilitate dissection of neuropathology associated with SHANK mutations in human, we generated multiple mutations in the Shank gene, the only member of the SHANK family in Drosophila melanogaster Both male and female Shank null mutants were fully viable and fertile with no apparent morphological or developmental defects...
October 26, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29063482/information-advocacy-and-signposting-as-a-low-level-support-for-adults-with-high-functioning-autism-spectrum-disorder-an-example-from-the-uk
#15
Kris Southby, Olivia Robinson
'Low-level' support is championed to support adults with high functioning autism spectrum disorder (HFASD) to achieve good quality health and social care, yet research in the area is sparse. Drawing on semi-structured interview data, this paper considers the efficacy of an intervention to provide low-level support to adults with HFASD with little or no funded support. The intervention led to a number of perceived positive outcomes for adults with HFASD, their families, and service providers in the city, including increased access to education, volunteering, support and information, socialising, improved health and wellbeing, and managing day-to-day...
October 23, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29063203/cortical-dysplasia-and-autistic-trait-severity-in-children-with-tuberous-sclerosis-complex-a-clinical-epidemiological-study
#16
Sabine E Mous, Iris E Overwater, Rita Vidal Gato, Jorieke Duvekot, Leontine W Ten Hoopen, Maarten H Lequin, Marie-Claire Y de Wit, Gwendolyn C Dieleman
Tuberous Sclerosis Complex (TSC) is characterized by a high prevalence of autism spectrum disorders (ASD). Little is known about the relation between cortical dysplasia and ASD severity in TSC. We assessed ASD severity (using the Autism Diagnostic Observation Scale), tuber and radial migration line (RML) count and location, and cognitive functioning in 52 children with TSC and performed regression and mediation analyses. Tuber and RML count were strongly positively related to ASD severity. However, when correcting for cognitive functioning, the majority of associations became insignificant and only total tuber count remained associated to the severity of restricted/repetitive behaviors...
October 23, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/29057566/diminished-socially-selective-neural-processing-in-5-month-old-infants-at-high-familial-risk-for-autism
#17
Ricarda Braukmann, Sarah Lloyd-Fox, Anna Blasi, Mark H Johnson, Harold Bekkering, Jan K Buitelaar, Sabine Hunnius
The social and communicative difficulties that characterize Autism Spectrum Disorder (ASD) are considered the most striking feature of the disorder. Research has reported that individuals with ASD show abnormalities in the brain regions associated with the processing of social information. Importantly, a recent study using functional near-infrared spectroscopy (fNIRS) found the first evidence of atypicalities in the neural processing of social information in four to six-month-old infants at high familial risk for ASD...
October 23, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29057543/cortical-responses-before-six-months-of-life-associate-with-later-autism
#18
S Lloyd-Fox, A Blasi, G Pasco, T Gliga, E J Jones, D G Murphy, C E Elwell, T Charman, M H Johnson
Autism Spectrum Disorder (ASD) is a common, highly heritable, developmental disorder, and later-born siblings of diagnosed children are at higher risk for developing ASD than the general population. Although the emergence of behavioural symptoms of ASD in toddlerhood is well characterised, far less is known about development during the first months of life of infants at familial risk. In a prospective longitudinal study of infants at familial risk followed to 36 months, we measured functional near infrared spectroscopy (fNIRS) brain responses to social videos of people (i...
October 23, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29054073/discourse-production-of-mandarin-speaking-children-with-high-functioning-autism-the-effect-of-mental-and-action-verbs-semantic-pragmatic-features
#19
Yiqi Song, Zhongheng Jia, Shunhua Liu, Dandan Liang
The present study investigated the syntactic and pragmatic performance of children with high-functioning autism (HFA) during a discourse production task with mental verbs. Children with HFA and typically developing (TD) children were matched by chronological age, verbal IQ (VIQ) and full-scale IQ (FIQ). We found that children with HFA tended to select a nominal object given a mental verb with either a nominal or clausal object. They committed few syntactic errors but generated syntactic stereotypes with mental verbs...
October 16, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/29054034/an-exploration-of-common-dopaminergic-variants-and-behavior-problems-in-siblings-at-high-risk-for-autism-spectrum-disorder
#20
Devon N Gangi, Lauren V Usher, Daniel S Messinger
Younger siblings of children with ASD often exhibit elevated internalizing and externalizing problems. We investigated common dopaminergic variants (DRD4 and DRD2) in relation to behavior problems at 36 months. Genotypes linked to less efficient dopaminergic functioning were associated with higher internalizing problems in high-risk siblings.
October 17, 2017: Infant Behavior & Development
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