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Journal of Neurodevelopmental Disorders

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https://read.qxmd.com/read/30732576/rare-copy-number-variations-affecting-the-synaptic-gene-dmxl2-in-neurodevelopmental-disorders
#1
Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A Baribeau, Anne S Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R Marshall, Aparna Prasad, Moises A Serrano, D James Stavropoulos, Hope Twede, Joris R Vermeesch, Jacob A S Vorstman, Stephen W Scherer
BACKGROUND: Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-genome sequencing (WGS) with detailed phenotype data can enable novel gene associations in NDDs. METHODS: We performed WGS of six members from a three-generation family, where three individuals each had a spectrum of features suggestive of a NDD...
February 7, 2019: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30665413/differentiating-social-preference-and-social-anxiety-phenotypes-in-fragile-x-syndrome-using-an-eye-gaze-analysis-a-pilot-study
#2
Michael P Hong, Eleanor M Eckert, Ernest V Pedapati, Rebecca C Shaffer, Kelli C Dominick, Logan K Wink, John A Sweeney, Craig A Erickson
BACKGROUND: Fragile X syndrome (FXS) is the leading inherited cause of autism spectrum disorder, but there remains debate regarding the clinical presentation of social deficits in FXS. The aim of this study was to compare individuals with FXS to typically developing controls (TDC) and individuals with idiopathic autism spectrum disorder (ASD) across two social eye tracking paradigms. METHODS: Individuals with FXS and age- and gender-matched TDC and individuals with idiopathic ASD completed emotional face and social preference eye tracking tasks to evaluate gaze aversion and social interest, respectively...
January 21, 2019: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30665341/static-and-dynamic-postural-control-deficits-in-aging-fragile-x-mental-retardation-1-fmr1-gene-premutation-carriers
#3
Zheng Wang, Pravin Khemani, Lauren M Schmitt, Su Lui, Matthew W Mosconi
BACKGROUND: Individuals with premutation alleles of the fragile X mental retardation 1 (FMR1) gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) during aging. Characterization of motor issues associated with aging in FMR1 premutation carriers is needed to determine neurodegenerative processes and establish new biobehavioral indicators to help identify individuals at greatest risk of developing FXTAS. METHODS: We examined postural stability in 18 premutation carriers ages 46-77 years and 14 age-matched healthy controls...
January 21, 2019: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30587104/substance-use-and-nicotine-dependence-in-persistent-remittent-and-late-onset-adhd-a-10-year-longitudinal-study-from-childhood-to-young-adulthood
#4
Shahrzad Ilbegi, Annabeth P Groenman, Arnt Schellekens, Catharina A Hartman, Pieter J Hoekstra, Barbara Franke, Stephen V Faraone, Nanda N J Rommelse, Jan K Buitelaar
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is associated with substance use disorders (SUD; alcohol and/or drug dependence) and nicotine dependence. This study aims to advance our knowledge about the association between SUD, nicotine dependence, and the course of ADHD (persistent versus remittent ADHD and late-onset ADHD). METHODS: ADHD, SUD, and nicotine dependence were longitudinally assessed (mean age at study entry 11.3 years, mean age at follow-up 21...
December 27, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30587102/the-reach-to-grasp-movement-in-infants-later-diagnosed-with-autism-spectrum-disorder-a-high-risk-sibling-cohort-study
#5
Lori-Ann R Sacrey, Lonnie Zwaigenbaum, Susan Bryson, Jessica Brian, Isabel M Smith
BACKGROUND: Although autism spectrum disorder (ASD) is characterized by impairments in social communication and the presence of repetitive behavior and/or restricted interests, there is evidence that motor impairments may be a contributing factor to the ASD phenotype. The purpose of this study was to examine the motor act of reaching-to-grasp in children at high risk (HR; with an older sibling diagnosed with ASD) and low-risk (LR; no family history of ASD) for ASD. METHODS: Children were compared for differences in reaching-to-grasp based on sibling status and diagnostic outcome...
December 27, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30541453/statistical-learning-as-a-window-into-developmental-disabilities
#6
REVIEW
Jenny R Saffran
Until recently, most behavioral studies of children with intellectual and developmental disabilities (IDD) have used standardized assessments as a means to probe etiology and to characterize phenotypes. Over the past decade, however, tasks originally developed to investigate learning processes in typical development have been brought to bear on developmental processes in children with IDD.This brief review will focus on one learning process in particular-statistical learning-and will provide an overview of what has been learned thus far from studies using statistical learning tasks with different groups of children with IDD conditions...
December 13, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30541449/aberrant-structural-and-functional-connectivity-and-neurodevelopmental-impairment-in-preterm-children
#7
REVIEW
Cynthia E Rogers, Rachel E Lean, Muriah D Wheelock, Christopher D Smyser
BACKGROUND: Despite advances in antenatal and neonatal care, preterm birth remains a leading cause of neurological disabilities in children. Infants born prematurely, particularly those delivered at the earliest gestational ages, commonly demonstrate increased rates of impairment across multiple neurodevelopmental domains. Indeed, the current literature establishes that preterm birth is a leading risk factor for cerebral palsy, is associated with executive function deficits, increases risk for impaired receptive and expressive language skills, and is linked with higher rates of co-occurring attention deficit hyperactivity disorder, anxiety, and autism spectrum disorders...
December 13, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30541437/imaging-episodic-memory-during-development-and-childhood-epilepsy
#8
REVIEW
Leigh N Sepeta, Madison M Berl, William Davis Gaillard
Epilepsy affects 2.2 million adults in the USA, with 1 in 26 people developing epilepsy at some point in their lives. Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy as medial structures, and the hippocampus in particular, are prone to generating seizures. Selective anterior temporal resection (which removes the hippocampus) is the most effective intractable TLE treatment, but given the critical role of the mesial temporal lobe in memory functioning, resection can have negative effects on this crucial cognitive skill...
December 13, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30541435/inaugural-annual-special-section-of-the-intellectual-and-developmental-disabilities-research-centers-developmental-cognitive-neuroscience-and-neurodevelopmental-disorders
#9
EDITORIAL
Shafali Spurling Jeste, Charles A Nelson
No abstract text is available yet for this article.
December 13, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30541434/adhd-related-sex-differences-in-fronto-subcortical-intrinsic-functional-connectivity-and-associations-with-delay-discounting
#10
Keri S Rosch, Stewart H Mostofsky, Mary Beth Nebel
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is associated with atypical fronto-subcortical neural circuitry and heightened delay discounting, or a stronger preference for smaller, immediate rewards over larger, delayed rewards. Recent evidence of ADHD-related sex differences in brain structure and function suggests anomalies in fronto-subcortical circuitry may differ among girls and boys with ADHD. The current study examined whether the functional connectivity (FC) within fronto-subcortical neural circuitry differs among girls and boys with ADHD compared to same-sex typically developing (TD) controls and relates to delay discounting...
December 13, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30541433/applying-a-network-framework-to-the-neurobiology-of-reading-and-dyslexia
#11
Stephen K Bailey, Katherine S Aboud, Tin Q Nguyen, Laurie E Cutting
BACKGROUND: There is a substantial literature on the neurobiology of reading and dyslexia. Differences are often described in terms of individual regions or individual cognitive processes. However, there is a growing appreciation that the brain areas subserving reading are nested within larger functional systems, and new network analysis methods may provide greater insight into how reading difficulty arises. Yet, relatively few studies have adopted a principled network-based approach (e...
December 13, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30541429/cerebrospinal-fluid-and-the-early-brain-development-of-autism
#12
REVIEW
Mark D Shen
BACKGROUND: There is currently a renaissance of interest in the many functions of cerebrospinal fluid (CSF). Altered flow of CSF, for example, has been shown to impair the clearance of pathogenic inflammatory proteins involved in neurodegenerative diseases, such as amyloid-β. In addition, the role of CSF in the newly discovered lymphatic system of the brain has become a prominently researched area in clinical neuroscience, as CSF serves as a conduit between the central nervous system and immune system...
December 13, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30541425/arterial-spin-labeling-provides-a-reliable-neurobiological-marker-of-autism-spectrum-disorder
#13
Benjamin E Yerys, John D Herrington, Gregory K Bartley, Hua-Shan Liu, John A Detre, Robert T Schultz
BACKGROUND: Research on neurobiological markers of autism spectrum disorder (ASD) has been elusive. However, radionuclide studies of cerebral blood flow (CBF) have shown decreased blood flow (hypoperfusion) in the temporal lobes of individuals with ASD across ages and intelligence. This observation fits with current neuroscientific models that implicate temporal regions in social perception and social cognition. Arterial spin labeled perfusion MRI allows noninvasive quantification of regional CBF as part of a multimodal MRI protocol...
December 13, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30541423/what-s-missing-in-autism-spectrum-disorder-motor-assessments
#14
REVIEW
Rujuta B Wilson, James T McCracken, Nicole J Rinehart, Shafali S Jeste
BACKGROUND: Motor delays and impairments in autism spectrum disorders (ASD) are extremely common and often herald the emergence of pervasive atypical development. Clinical accounts of ASD and standardized measures of motor function have identified deficits in multiple motor domains. However, literature describing frequently used standardized motor assessments in children with ASD, their test properties, and their limitations are sparse. METHODS: We systematically reviewed the literature to identify the most frequently used standardized motor assessments used to evaluate children with ASD from infancy to early childhood...
December 13, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30442088/an-emotion-recognition-subtyping-approach-to-studying-the-heterogeneity-and-comorbidity-of-autism-spectrum-disorders-and-attention-deficit-hyperactivity-disorder
#15
Francesca Waddington, Catharina Hartman, Yvette de Bruijn, Martijn Lappenschaar, Anoek Oerlemans, Jan Buitelaar, Barbara Franke, Nanda Rommelse
BACKGROUND: Emotion recognition dysfunction has been reported in both autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). This suggests that emotion recognition is a cross-disorder trait that may be utilised to understand the heterogeneous psychopathology of ASD and ADHD. We aimed to identify emotion recognition subtypes and to examine their relation with quantitative and diagnostic measures of ASD and ADHD to gain further insight into disorder comorbidity and heterogeneity...
November 15, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30348077/language-delay-aggregates-in-toddler-siblings-of-children-with-autism-spectrum-disorder
#16
N Marrus, L P Hall, S J Paterson, J T Elison, J J Wolff, M R Swanson, J Parish-Morris, A T Eggebrecht, J R Pruett, H C Hazlett, L Zwaigenbaum, S Dager, A M Estes, R T Schultz, K N Botteron, J Piven, J N Constantino
BACKGROUND: Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of language development in unaffected siblings of children with ASD can inform whether decreased early language ability aggregates with inherited risk for ASD and serves as an ASD endophenotype. METHODS: We implemented two approaches: (1) a meta-analysis of studies comparing language delay, a categorical indicator of language function, and language scores, a continuous metric, in unaffected toddlers at high and low familial risk for ASD, and (2) a parallel analysis of 350 unaffected 24-month-olds in the Infant Brain Imaging Study (IBIS), a prospective study of infants at high and low familial risk for ASD...
October 22, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30348076/characterization-of-autism-spectrum-disorder-and-neurodevelopmental-profiles-in-youth-with-xyy-syndrome
#17
Lisa Joseph, Cristan Farmer, Colby Chlebowski, Laura Henry, Ari Fish, Catherine Mankiw, Anastasia Xenophontos, Liv Clasen, Bethany Sauls, Jakob Seidlitz, Jonathan Blumenthal, Erin Torres, Audrey Thurm, Armin Raznahan
BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD...
October 22, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30227832/emotional-prosodic-change-detection-in-autism-spectrum-disorder-an-electrophysiological-investigation-in-children-and-adults
#18
J Charpentier, K Kovarski, E Houy-Durand, J Malvy, A Saby, F Bonnet-Brilhault, M Latinus, M Gomot
BACKGROUND: Autism spectrum disorder (ASD) is characterized by atypical behaviors in social environments and in reaction to changing events. While this dyad of symptoms is at the core of the pathology along with atypical sensory behaviors, most studies have investigated only one dimension. A focus on the sameness dimension has shown that intolerance to change is related to an atypical pre-attentional detection of irregularity. In the present study, we addressed the same process in response to emotional change in order to evaluate the interplay between alterations of change detection and socio-emotional processing in children and adults with autism...
September 18, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30165814/neurophysiological-correlates-of-holistic-face-processing-in-adolescents-with-and-without-autism-spectrum-disorder
#19
Sandra Naumann, Ulrike Senftleben, Megha Santhosh, James McPartland, Sara Jane Webb
BACKGROUND: Face processing has been found to be impaired in autism spectrum disorders (ASD). One hypothesis is that individuals with ASD engage in piecemeal compared to holistic face processing strategies. To investigate the role of possible impairments in holistic face processing in individuals with autism, the current study investigated behavioral and electroencephalography (EEG) correlates of face processing (P1/N170 and gamma-band activity) in adolescents with ASD and sex-, age-, and IQ-matched neurotypical controls...
August 30, 2018: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/30157749/face-processing-in-22q11-2-deletion-syndrome-atypical-development-and-visual-scanning-alterations
#20
Alexandra Zaharia, Maude Schneider, Bronwyn Glaser, Martina Franchini, Sarah Menghetti, Marie Schaer, Martin Debbané, Stephan Eliez
BACKGROUND: Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP develops later in life and plays an important role in face and emotion recognition abilities. Recent studies reported atypical development of CFP in several neurodevelopmental disorders. Taking previous reports of atypical face exploration one step further, our study aims at characterizing face processing in children and adolescents with 22q11...
August 29, 2018: Journal of Neurodevelopmental Disorders
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