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https://www.readbyqxmd.com/read/27876814/a-genome-wide-investigation-into-parent-of-origin-effects-in-autism-spectrum-disorder-identifies-previously-associated-genes-including-shank3
#1
Siobhan Connolly, Richard Anney, Louise Gallagher, Elizabeth A Heron
Autism spectrum disorder (ASD) is known to be a heritable neurodevelopmental disorder affecting more than 1% of the population but in the majority of ASD cases, the genetic cause has not been identified. Parent-of-origin effects have been highlighted as an important mechanism in the pathology of neurodevelopmental disorders such as Prader-Willi and Angelman syndrome, with individuals with these syndromes often exhibiting ASD symptoms. Consequently, systematic investigation of these effects in ASD is clearly an important line of investigation in elucidating the underlying genetic mechanisms...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27782808/compuls-design-of-a-multicenter-phenotypic-cognitive-genetic-and-magnetic-resonance-imaging-study-in-children-with-compulsive-syndromes
#2
Jilly Naaijen, Saskia de Ruiter, Marcel P Zwiers, Jeffrey C Glennon, Sarah Durston, David J Lythgoe, Steven C R Williams, Tobias Banaschewski, Daniel Brandeis, Barbara Franke, Jan K Buitelaar
BACKGROUND: Compulsivity, the closely linked trait impulsivity and addictive behaviour are associated with several neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and obsessive compulsive disorder (OCD). All three disorders show impaired fronto-striatal functioning, which may be related to altered glutamatergic signalling. Genetic factors are also thought to play an important role in the aetiology of compulsivity-related disorders...
October 26, 2016: BMC Psychiatry
https://www.readbyqxmd.com/read/27617154/the-7q11-23-microduplication-syndrome-a-clinical-report-with-review-of-literature
#3
REVIEW
Elham Abbas, Devin M Cox, Teri Smith, Merlin G Butler
We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11...
September 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27615053/phenotype-of-7q11-23-duplication-a-family-clinical-series
#4
Beth A Earhart, Marian E Williams, Irina Zamora, Linda Marie Randolph, Jodie K Votava-Smith, Stephanie N Marcy
Duplication 7q11.23 syndrome is the reciprocal of Williams-Beuren deletion syndrome. Studies have reported a recognizable phenotype, including autism, intellectual disability, speech, and language delay, social anxiety, and behavioral difficulties in these individuals. Previous studies revealed a variety of craniofacial abnormalities, brain malformations, and cardiac abnormalities, including aortic dilation. This patient series evaluates five family members aged 2 months to 35 years, all with confirmed 7q11...
September 12, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27610215/social-affiliation-motives-modulate-spontaneous-learning-in-williams-syndrome-but-not-in-autism
#5
Giacomo Vivanti, Darren R Hocking, Peter Fanning, Cheryl Dissanayake
BACKGROUND: Children with autism spectrum disorder (ASD) and those with Williams syndrome (WS) have difficulties with learning, though the nature of these remains unclear. METHODS: In this study, we used novel eye-tracking and behavioral paradigms to measure how 36 preschoolers with ASD and 21 age- and IQ-matched peers with WS attend to and learn novel behaviors (1) from the outcomes of their own actions (non-social learning), (2) through imitation of others' actions (social learning), and across situations in which imitative learning served either an instrumental function or fulfilled social affiliation motives...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27520580/neuron-density-is-decreased-in-the-prefrontal-cortex-in-williams-syndrome
#6
Caroline Horton Lew, Chelsea Brown, Ursula Bellugi, Katerina Semendeferi
Williams Syndrome (WS) is a rare neurodevelopmental disorder associated with a hemideletion in chromosome 7, which manifests a distinct behavioral phenotype characterized by a hyperaffiliative social drive, in striking contrast to the social avoidance behaviors that are common in Autism Spectrum Disorder (ASD). MRI studies have observed structural and functional abnormalities in WS cortex, including the prefrontal cortex (PFC), a region implicated in social cognition. This study utilizes the Bellugi Williams Syndrome Brain Collection, a unique resource that comprises the largest WS postmortem brain collection in existence, and is the first to quantitatively examine WS PFC cytoarchitecture...
August 13, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27119213/stimulus-overselectivity-in-autism-down-syndrome-and-typical-development
#7
COMPARATIVE STUDY
William V Dube, Rachel S Farber, Marlana R Mueller, Eileen Grant, Lucy Lorin, Curtis K Deutsch
Stimulus overselectivity refers to maladaptive narrow attending that is a common learning problem among children with intellectual disabilities and frequently associated with autism. The present study contrasted overselectivity among groups of children with autism, Down syndrome, and typical development. The groups with autism and Down syndrome were matched for intellectual level, and all three groups were matched for developmental levels on tests of nonverbal reasoning and receptive vocabulary. Delayed matching-to-sample tests presented color/form compounds, printed words, photographs of faces, Mayer-Johnson Picture Communication Symbols, and unfamiliar black forms...
May 2016: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/27116389/neurobiology-of-social-behavior-abnormalities-in-autism-and-williams-syndrome
#8
REVIEW
Boaz Barak, Guoping Feng
Social behavior is a basic behavior mediated by multiple brain regions and neural circuits, and is crucial for the survival and development of animals and humans. Two neuropsychiatric disorders that have prominent social behavior abnormalities are autism spectrum disorders (ASD), which is characterized mainly by hyposociability, and Williams syndrome (WS), whose subjects exhibit hypersociability. Here we review the unique properties of social behavior in ASD and WS, and discuss the major theories in social behavior in the context of these disorders...
April 26, 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27047540/mouse-genetic-models-of-human-brain-disorders
#9
REVIEW
Celeste Leung, Zhengping Jia
Over the past three decades, genetic manipulations in mice have been used in neuroscience as a major approach to investigate the in vivo function of genes and their alterations. In particular, gene targeting techniques using embryonic stem cells have revolutionized the field of mammalian genetics and have been at the forefront in the generation of numerous mouse models of human brain disorders. In this review, we will first examine childhood developmental disorders such as autism, intellectual disability, Fragile X syndrome, and Williams-Beuren syndrome...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/26799351/management-of-sleep-disorders-in-children-with-neurodevelopmental-disorders-a-review
#10
REVIEW
Allison Beck Blackmer, James A Feinstein
Neurodevelopmental disorders (NDDs) are defined as a group of disorders caused by changes in early brain development, resulting in behavioral and cognitive alterations in sensory and motor systems, speech, and language. NDDs affect approximately 1-2% of the general population. Up to 80% of children with NDDs are reported to have disrupted sleep; subsequent deleterious effects on daytime behaviors, cognition, growth, and overall development of the child are commonly reported. Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, Williams syndrome, and Smith-Magenis syndrome...
January 2016: Pharmacotherapy
https://www.readbyqxmd.com/read/26772998/zfrp8-forms-a-complex-with-fragile-x-mental-retardation-protein-and-regulates-its-localization-and-function
#11
William Tan, Curtis Schauder, Tatyana Naryshkina, Svetlana Minakhina, Ruth Steward
Fragile-X syndrome is the most commonly inherited cause of autism and mental disabilities. The Fmr1 (Fragile-X Mental Retardation 1) gene is essential in humans and Drosophila for the maintenance of neural stem cells, and Fmr1 loss results in neurological and reproductive developmental defects in humans and flies. FMRP (Fragile-X Mental Retardation Protein) is a nucleo-cytoplasmic shuttling protein, involved in mRNA silencing and translational repression. Both Zfrp8 and Fmr1 have essential functions in the Drosophila ovary...
February 15, 2016: Developmental Biology
https://www.readbyqxmd.com/read/26441497/from-ube3a-to-angelman-syndrome-a-substrate-perspective
#12
REVIEW
Gabrielle L Sell, Seth S Margolis
Angelman syndrome (AS) is a debilitating neurodevelopmental disorder that is characterized by motor dysfunction, intellectual disability, speech impairment, seizures and common features of autism spectrum disorders (ASDs). Some of these AS related phenotypes can be seen in other neurodevelopmental disorders (Williams, 2011; Tan et al., 2014). AS patients commonly carry mutations that render the maternally inherited UBE3A gene non-functional. Duplication of the chromosomal region containing the UBE3A gene is associated with ASDs...
2015: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/26388712/promoting-social-plasticity-in-developmental-disorders-with-non-invasive-brain-stimulation-techniques
#13
REVIEW
Paulo S Boggio, Manish K Asthana, Thiago L Costa, Cláudia A Valasek, Ana A C Osório
Being socially connected directly impacts our basic needs and survival. People with deficits in social cognition might exhibit abnormal behaviors and face many challenges in our highly social-dependent world. These challenges and limitations are associated with a substantial economical and subjective impact. As many conditions where social cognition is affected are highly prevalent, more treatments have to be developed. Based on recent research, we review studies where non-invasive neuromodulatory techniques have been used to promote Social Plasticity in developmental disorders...
2015: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/26382598/a-novel-recurrent-breakpoint-responsible-for-rearrangements-in-the-williams-beuren-region
#14
Alberto Plaja, Neus Castells, Anna M Cueto-González, Miguel del Campo, Teresa Vendrell, Elisabet Lloveras, Luis Izquierdo, Mar Borregan, Benjamín Rodríguez-Santiago, Anna Carrió, Rosa Miró, Eduardo Tizzano
Copy number variants (CNVs) of the Williams-Beuren syndrome (WBS) 7q11.23 region are responsible for neurodevelopmental disorders with multisystem involvement and variable expressivity. We found 2 patients with a deletion and 1 patient with a duplication in this region sharing a common breakpoint located between the LIMK1 and EIF4H(WBSCR1) genes. One patient had a WBS phenotype, although testing with a commercially available FISH assay was negative for the deletion. A further test using array CGH showed an atypical WBS region deletion...
2015: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/26341300/prevalence-of-autism-spectrum-disorder-phenomenology-in-genetic-disorders-a-systematic-review-and-meta-analysis
#15
Caroline Richards, Christopher Jones, Laura Groves, Jo Moss, Chris Oliver
BACKGROUND: Autism spectrum disorder (ASD) phenomenology is reported to be more common in individuals with some genetic syndromes than in the general population; however, no meta-analysis has provided prevalence data within and between syndromes. In this systematic review and meta-analysis, we aimed to synthesise data from a wide range of papers to provide accurate estimates about ASD phenomenology in genetic and metabolic syndromes. METHODS: We identified syndromes reported as most likely to be associated with ASD...
October 2015: Lancet Psychiatry
https://www.readbyqxmd.com/read/26326333/dissociation-of-chromatic-discrimination-ability-in-developmental-disorders-autism-spectrum-disorder-and-williams-syndrome
#16
Matthew Cranwell, Deborah Riby, Ann Le Couteur, Brad Pearce, Anya Hurlbert
UNLABELLED: Atypical visual processing, particularly in dorsal stream functions, has been reported in both Autism Spectrum Disorder (ASD) and Williams Syndrome (WS), two developmental disorders which are typically said to have contrasting social profiles despite overlapping socio-communicative deficits. Here we aim to dissociate visual processing deficits between the two syndromes by examining ventral stream function, which underlies key aspects of socio-communicative ability such as face and object recognition; we specifically examine colour perception...
2015: Journal of Vision
https://www.readbyqxmd.com/read/26284991/oscillations-or-synchrony-disruption-of-neural-synchrony-despite-enhanced-gamma-oscillations-in-a-model-of-disrupted-perceptual-coherence
#17
João Castelhano, Inês Bernardino, José Rebola, Eugenio Rodriguez, Miguel Castelo-Branco
It has been hypothesized that neural synchrony underlies perceptual coherence. The hypothesis of loss of central perceptual coherence has been proposed to be at the origin of abnormal cognition in autism spectrum disorders and Williams syndrome, a neurodevelopmental disorder linked with autism, and a clearcut model for impaired central coherence. We took advantage of this model of impaired holistic processing to test the hypothesis that loss of neural synchrony plays a separable role in visual integration using EEG and a set of experimental tasks requiring coherent integration of local elements leading to 3-D face perception...
December 2015: Journal of Cognitive Neuroscience
https://www.readbyqxmd.com/read/26263406/exploring-different-explanations-for-performance-on-a-theory-of-mind-task-in-williams-syndrome-and-autism-using-eye-movements
#18
Jo Van Herwegen, Tim J Smith, Dagmara Dimitriou
The current study explored the looking behaviours of young children with Autism Spectrum Disorders (ASD), Williams syndrome (WS), and typically developing (TD) children while they were administered a low-verbal Theory of Mind (ToM) task. Although ToM performance in both clinical groups was impaired, only participants with WS showed small differences in looking behaviour at the start of the video. Furthermore, while TD children who passed the ToM task looked longer at the original hiding place there was no such contrast in the clinical groups...
October 2015: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/26255772/an-autism-linked-mutation-disables-phosphorylation-control-of-ube3a
#19
Jason J Yi, Janet Berrios, Jason M Newbern, William D Snider, Benjamin D Philpot, Klaus M Hahn, Mark J Zylka
Deletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS), while duplication or triplication of UBE3A is linked to autism. These genetic findings suggest that the ubiquitin ligase activity of UBE3A must be tightly maintained to promote normal brain development. Here, we found that protein kinase A (PKA) phosphorylates UBE3A in a region outside of the catalytic domain at residue T485 and inhibits UBE3A activity toward itself and other substrates. A de novo autism-linked missense mutation disrupts this phosphorylation site, causing enhanced UBE3A activity in vitro, enhanced substrate turnover in patient-derived cells, and excessive dendritic spine development in the brain...
August 13, 2015: Cell
https://www.readbyqxmd.com/read/26248474/social-functioning-and-autonomic-nervous-system-sensitivity-across-vocal-and-musical-emotion-in-williams-syndrome-and-autism-spectrum-disorder
#20
Anna Järvinen, Rowena Ng, Davide Crivelli, Dirk Neumann, Andrew J Arnold, Nicholas Woo-VonHoogenstyn, Philip Lai, Doris Trauner, Ursula Bellugi
Both Williams syndrome (WS) and autism spectrum disorders (ASD) are associated with unusual auditory phenotypes with respect to processing vocal and musical stimuli, which may be shaped by the atypical social profiles that characterize the syndromes. Autonomic nervous system (ANS) reactivity to vocal and musical emotional stimuli was examined in 12 children with WS, 17 children with ASD, and 20 typically developing (TD) children, and related to their level of social functioning. The results of this small-scale study showed that after controlling for between-group differences in cognitive ability, all groups showed similar emotion identification performance across conditions...
January 2016: Developmental Psychobiology
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