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Journal of Neurodevelopmental Disorders

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https://www.readbyqxmd.com/read/27891188/associations-between-social-cognition-skills-and-function-and-subclinical-negative-and-positive-symptoms-in-22q11-2-deletion-syndrome
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/27486483/a-quantitative-measure-of-restricted-and-repetitive-behaviors-for-early-childhood
#16
Jason J Wolff, Brian A Boyd, Jed T Elison
BACKGROUND: Restricted and repetitive behaviors are characteristic phenotypic features of many neurodevelopmental, psychiatric, and neurological conditions. During early childhood, such behaviors are considered normative. More research is needed to delineate the dimensions of restricted and repetitive behavior across typical and atypical development during this period. METHODS: We developed the 34-item parent-rated Repetitive Behavior Scale for Early Childhood (RBS-EC) to capture quantitative, dimensional features across a broad range of behaviors contributing to this domain...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27468315/cumulative-life-events-traumatic-experiences-and-psychiatric-symptomatology-in-transition-aged-youth-with-autism-spectrum-disorder
#17
Julie Lounds Taylor, Katherine O Gotham
BACKGROUND: Co-occurring mood and anxiety symptomatology is commonly observed among youth with autism spectrum disorders (ASD) during adolescence and adulthood. Yet, little is known about the factors that might predispose youth with ASD to mood and anxiety problems. In this study, we focus on the role of cumulative stressful life events and trauma in co-occurring psychopathology among youth with ASD who are preparing to exit high school. Specifically, we examined the distribution of cumulative life events and traumatic experiences and their relations with mood and anxiety symptomatology...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27429661/neural-correlates-of-reward-processing-in-adults-with-22q11-deletion-syndrome
#18
Esther D A van Duin, Liesbet Goossens, Dennis Hernaus, Fabiana da Silva Alves, Nicole Schmitz, Koen Schruers, Therese van Amelsvoort
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is caused by a microdeletion on chromosome 22q11.2 and associated with an increased risk to develop psychosis. The gene coding for catechol-O-methyl-transferase (COMT) is located at the deleted region, resulting in disrupted dopaminergic neurotransmission in 22q11DS, which may contribute to the increased vulnerability for psychosis. A dysfunctional motivational reward system is considered one of the salient features in psychosis and thought to be related to abnormal dopaminergic neurotransmission...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27313794/characterization-of-rett-syndrome-like-phenotypes-in-mecp2-knockout-rats
#19
Yang Wu, Weiwei Zhong, Ningren Cui, Christopher M Johnson, Hao Xing, Shuang Zhang, Chun Jiang
BACKGROUND: Rett Syndrome (RTT) is a neurodevelopmental disease caused by the disruption of the MECP2 gene. Several mouse models of RTT have been developed with Mecp2 disruptions. Although the mouse models are widely used in RTT research, results obtained need to be validated in other species. Therefore, we performed these studies to characterize phenotypes of a novel Mecp2 (-/Y) rat model and compared them with the Mecp2 (tm1.1Bird) mouse model of RTT. METHODS: RTT-like phenotypes were systematically studied and compared between Mecp2 (-/Y) rats and Mecp2 (-/Y) mice...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27307794/further-evidence-for-a-parent-of-origin-effect-at-the-nop9-locus-on-language-related-phenotypes
#20
Kerry A Pettigrew, Emily Frinton, Ron Nudel, May T M Chan, Paul Thompson, Marianna E Hayiou-Thomas, Joel B Talcott, John Stein, Anthony P Monaco, Charles Hulme, Margaret J Snowling, Dianne F Newbury, Silvia Paracchini
BACKGROUND: Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model...
2016: Journal of Neurodevelopmental Disorders
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