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Journal of Neurodevelopmental Disorders

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https://www.readbyqxmd.com/read/28050218/a-developmental-longitudinal-investigation-of-autism-phenotypic-profiles-in-fragile-x-syndrome
#1
Michelle Lee, Gary E Martin, Elizabeth Berry-Kravis, Molly Losh
BACKGROUND: Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model for this approach, and important areas of phenotypic overlap and divergence have been documented. However, few studies have examined how the manifestation of ASD-related phenotypes in FXS may change over development, a question which has important implications for conceptualizing shared etiologies of these disorders and their constituent phenotypes...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28050217/verbal-labels-increase-the-salience-of-novel-objects-for-preschoolers-with-typical-development-and-williams-syndrome-but-not-in-autism
#2
Giacomo Vivanti, Darren R Hocking, Peter Fanning, Cheryl Dissanayake
BACKGROUND: Early research has documented that young children show an increased interest toward objects that are verbally labeled by an adult, compared to objects that are presented without a label. It is unclear whether the same phenomenon occurs in neurodevelopmental disorders affecting social development, such as autism spectrum disorder (ASD) and Williams syndrome (WS). METHODS: The present study used a novel eye-tracking paradigm to determine whether hearing a verbal label increases the salience of novel objects in 35 preschoolers with ASD, 18 preschoolers with WS, and 20 typically developing peers...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27980692/wnt-signaling-networks-in-autism-spectrum-disorder-and-intellectual-disability
#3
REVIEW
Vickie Kwan, Brianna K Unda, Karun K Singh
BACKGROUND: Genetic factors play a major role in the risk for neurodevelopmental disorders such as autism spectrum disorders (ASDs) and intellectual disability (ID). The underlying genetic factors have become better understood in recent years due to advancements in next generation sequencing. These studies have uncovered a vast number of genes that are impacted by different types of mutations (e.g., de novo, missense, truncation, copy number variations). ABSTRACT: Given the large volume of genetic data, analyzing each gene on its own is not a feasible approach and will take years to complete, let alone attempt to use the information to develop novel therapeutics...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27933109/functional-characterization-of-rare-foxp2-variants-in-neurodevelopmental-disorder
#4
Sara B Estruch, Sarah A Graham, Swathi M Chinnappa, Pelagia Deriziotis, Simon E Fisher
BACKGROUND: Heterozygous disruption of FOXP2 causes a rare form of speech and language impairment. Screens of the FOXP2 sequence in individuals with speech/language-related disorders have identified several rare protein-altering variants, but their phenotypic relevance is often unclear. FOXP2 encodes a transcription factor with a forkhead box DNA-binding domain, but little is known about the functions of protein regions outside this domain. METHODS: We performed detailed functional analyses of seven rare FOXP2 variants found in affected cases, including three which have not been previously characterized, testing intracellular localization, transcriptional regulation, dimerization, and interaction with other proteins...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27933108/postural-orientation-and-equilibrium-processes-associated-with-increased-postural-sway-in-autism-spectrum-disorder-asd
#5
Zheng Wang, Rami R Hallac, Kaitlin C Conroy, Stormi P White, Alex A Kane, Amy L Collinsworth, John A Sweeney, Matthew W Mosconi
BACKGROUND: Increased postural sway has been repeatedly documented in children with autism spectrum disorder (ASD). Characterizing the control processes underlying this deficit, including postural orientation and equilibrium, may provide key insights into neurophysiological mechanisms associated with ASD. Postural orientation refers to children's ability to actively align their trunk and head with respect to their base of support, while postural equilibrium is an active process whereby children coordinate ankle dorsi-/plantar-flexion and hip abduction/adduction movements to stabilize their upper body...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27891188/associations-between-social-cognition-skills-and-function-and-subclinical-negative-and-positive-symptoms-in-22q11-2-deletion-syndrome
#6
A Vangkilde, J R M Jepsen, H Schmock, C Olesen, S Arnarsdóttir, W F C Baaré, K J Plessen, M Didriksen, H R Siebner, T Werge, L Olsen
BACKGROUND: Identification of the early signs of schizophrenia would be a major achievement for the early intervention and prevention strategies in psychiatry. Social impairments are defining features of schizophrenia. Impairments of individual layers of social competencies are frequently described in individuals with 22q11.2 deletion syndrome (22q11.2DS), who have high risk of schizophrenia. It is unclear whether and to what extent social impairments associate with subclinical negative and positive symptoms in 22q11...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27843501/visual-memory-profile-in-22q11-2-microdeletion-syndrome-are-there-differences-in-performance-and-neurobiological-substrates-between-tasks-linked-to-ventral-and-dorsal-visual-brain-structures-a-cross-sectional-and-longitudinal-study
#7
Mathilde Bostelmann, Maude Schneider, Maria Carmela Padula, Johanna Maeder, Marie Schaer, Elisa Scariati, Martin Debbané, Bronwyn Glaser, Sarah Menghetti, Stephan Eliez
BACKGROUND: Children affected by the 22q11.2 deletion syndrome (22q11.2DS) have a specific neuropsychological profile with strengths and weaknesses in several cognitive domains. Specifically, previous evidence has shown that patients with 22q11.2DS have more difficulties memorizing faces and visual-object characteristics of stimuli. In contrast, they have better performance in visuo-spatial memory tasks. The first focus of this study was to replicate these results in a larger sample of patients affected with 22q11...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27822316/developmental-profiles-of-infants-with-an-fmr1-premutation
#8
Anne C Wheeler, John Sideris, Randi Hagerman, Elizabeth Berry-Kravis, Flora Tassone, Donald B Bailey
BACKGROUND: Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories of children with a premutation are not known. METHODS: This exploratory study examined the cognitive, communication, and social-behavioral profiles of 26 infants with a premutation who were identified through participation in a newborn screening for fragile X syndrome pilot study...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27800036/erratum-to-long-term-alterations-of-striatal-parvalbumin-interneurons-in-a-rat-model-of-early-exposure-to-alcohol
#9
Andrea De Giorgio, Sara E Comparini, Francesca Sangiuliano Intra, Alberto Granato
[This corrects the article DOI: 10.1186/1866-1955-4-18.].
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27795743/typical-visual-search-performance-and-atypical-gaze-behaviors-in-response-to-faces-in-williams-syndrome
#10
Masahiro Hirai, Yukako Muramatsu, Seiji Mizuno, Naoko Kurahashi, Hirokazu Kurahashi, Miho Nakamura
BACKGROUND: Evidence indicates that individuals with Williams syndrome (WS) exhibit atypical attentional characteristics when viewing faces. However, the dynamics of visual attention captured by faces remain unclear, especially when explicit attentional forces are present. To clarify this, we introduced a visual search paradigm and assessed how the relative strength of visual attention captured by a face and explicit attentional control changes as search progresses. METHODS: Participants (WS and controls) searched for a target (butterfly) within an array of distractors, which sometimes contained an upright face...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27777634/effects-of-early-life-exposure-to-thip-on-phenotype-development-in-a-mouse-model-of-rett-syndrome
#11
Weiwei Zhong, Christopher Mychal Johnson, Yang Wu, Ningren Cui, Hao Xing, Shuang Zhang, Chun Jiang
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder caused mostly by disruptions in the MECP2 gene. MECP2-null mice show imbalances in neuronal excitability and synaptic communications. Several previous studies indicate that augmenting synaptic GABA receptors (GABAARs) can alleviate RTT-like symptoms in mice. In addition to the synaptic GABAARs, there is a group of GABAARs found outside the synaptic cleft with the capability to produce sustained inhibition, which may be potential therapeutic targets for the control of neuronal excitability in RTT...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27777633/uncovering-obsessive-compulsive-disorder-risk-genes-in-a-pediatric-cohort-by-high-resolution-analysis-of-copy-number-variation
#12
Matthew J Gazzellone, Mehdi Zarrei, Christie L Burton, Susan Walker, Mohammed Uddin, S M Shaheen, Julie Coste, Rageen Rajendram, Reva J Schachter, Marlena Colasanto, Gregory L Hanna, David R Rosenberg, Noam Soreni, Kate D Fitzgerald, Christian R Marshall, Janet A Buchanan, Daniele Merico, Paul D Arnold, Stephen W Scherer
BACKGROUND: Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD. METHODS: We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27602170/the-nih-toolbox-cognitive-battery-for-intellectual-disabilities-three-preliminary-studies-and-future-directions
#13
David Hessl, Stephanie M Sansone, Elizabeth Berry-Kravis, Karen Riley, Keith F Widaman, Leonard Abbeduto, Andrea Schneider, Jeanine Coleman, Dena Oaklander, Kelly C Rhodes, Richard C Gershon
BACKGROUND: Recent advances in understanding molecular and synaptic mechanisms of intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through animal models have led to targeted controlled trials with pharmacological agents designed to normalize these underlying mechanisms and improve clinical outcomes. However, several human clinical trials have failed to demonstrate efficacy of these targeted treatments to improve surrogate behavioral endpoints. Because the ultimate index of disease modification in these disorders is amelioration of ID, the validation of cognitive measures for tracking treatment response is essential...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27597881/atypical-audiovisual-word-processing-in-school-age-children-with-a-history-of-specific-language-impairment-an-event-related-potential-study
#14
Natalya Kaganovich, Jennifer Schumaker, Courtney Rowland
BACKGROUND: Visual speech cues influence different aspects of language acquisition. However, whether developmental language disorders may be associated with atypical processing of visual speech is unknown. In this study, we used behavioral and ERP measures to determine whether children with a history of SLI (H-SLI) differ from their age-matched typically developing (TD) peers in the ability to match auditory words with corresponding silent visual articulations. METHODS: Nineteen 7-13-year-old H-SLI children and 19 age-matched TD children participated in the study...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27594924/automatic-cortical-representation-of-auditory-pitch-changes-in-rett-syndrome
#15
John J Foxe, Kelly M Burke, Gizely N Andrade, Aleksandra Djukic, Hans-Peter Frey, Sophie Molholm
BACKGROUND: Over the typical course of Rett syndrome, initial language and communication abilities deteriorate dramatically between the ages of 1 and 4 years, and a majority of these children go on to lose all oral communication abilities. It becomes extremely difficult for clinicians and caretakers to accurately assess the level of preserved auditory functioning in these children, an issue of obvious clinical import. Non-invasive electrophysiological techniques allow for the interrogation of auditory cortical processing without the need for overt behavioral responses...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27540420/comparing-oxytocin-and-cortisol-regulation-in-a-double-blind-placebo-controlled-hydrocortisone-challenge-pilot-study-in-children-with-autism-and-typical-development
#16
Blythe A Corbett, Karen L Bales, Deanna Swain, Kevin Sanders, Tamara A R Weinstein, Louis J Muglia
BACKGROUND: Children with autism spectrum disorder (ASD) show marked impairment in social functioning and poor adaptation to new and changing contexts, which may be influenced by underlying regulatory processes. Oxytocin (OT) and cortisol are key neuromodulators of biological and behavioral responses, show a synergistic effect, and have been implicated in the neuropathological profile in ASD. However, they are rarely investigated together. The purpose of the pilot study was to evaluate the relationship between cortisol and OT in children with ASD under baseline and physiological stress (hydrocortisone challenge) conditions...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27536336/visual-perception-and-processing-in-children-with-22q11-2-deletion-syndrome-associations-with-social-cognition-measures-of-face-identity-and-emotion-recognition
#17
Kathryn L McCabe, Stuart Marlin, Gavin Cooper, Robin Morris, Ulrich Schall, Declan G Murphy, Kieran C Murphy, Linda E Campbell
BACKGROUND: People with 22q11.2 deletion syndrome (22q11DS) have difficulty processing social information including facial identity and emotion processing. However, difficulties with visual and attentional processes may play a role in difficulties observed with these social cognitive skills. METHODS: A cross-sectional study investigated visual perception and processing as well as facial processing abilities in a group of 49 children and adolescents with 22q11DS and 30 age and socio-economic status-matched healthy sibling controls using the Birmingham Object Recognition Battery and face processing sub-tests from the MRC face processing skills battery...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27516813/sex-bias-in-autism-spectrum-disorder-in-neurofibromatosis-type-1
#18
Shruti Garg, Hein Heuvelman, Susan Huson, Hannah Tobin, Jonathan Green
BACKGROUND: Despite extensive literature, little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD). This study investigates the sex differences in ASD associated with neurofibromatosis type 1, a single-gene model of syndromic autism. METHODS: We analysed data from n = 194 children aged 4-16 years with neurofibromatosis type 1. Sex differences were evaluated across the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), verbal IQ, Social Responsiveness Scale (SRS) and Conners questionnaires...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27504143/neurophysiological-hyperresponsivity-to-sensory-input-in-autism-spectrum-disorders
#19
Yukari Takarae, Savanna R Sablich, Stormi P White, John A Sweeney
BACKGROUND: Atypical sensory processing is a common clinical observation in autism spectrum disorder (ASD). Neural hyperexcitability has been suggested as the cause for sensory hypersensitivity, a frequently reported clinical observation in ASD. We examined visual evoked responses to parametric increases in stimulus contrast in order to model neural responsivity of sensory systems in ASD. METHODS: Thirteen high-functioning individuals with ASD and 12 typically developing (TD) individuals completed a steady-state visual evoked potential study...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27493698/erratum-to-neural-correlates-of-reward-processing-in-adults-with-22q11-deletion-syndrome
#20
Esther D A Van Duin, Liesbet Goossens, Dennis Hernaus, Fabiana Da Silva Alves, Nicole Schmitz, Koen Schruers, Therese Van Amelsvoort
[This corrects the article DOI: 10.1186/s11689-016-9158-5.].
2016: Journal of Neurodevelopmental Disorders
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