journal
MENU ▼
Read by QxMD icon Read
search

Journal of Neurodevelopmental Disorders

journal
https://www.readbyqxmd.com/read/29329513/the-behavioural-phenotype-of-potocki-lupski-syndrome-a-cross-syndrome-comparison
#1
Stacey Bissell, Lucy Wilde, Caroline Richards, Jo Moss, Chris Oliver
BACKGROUND: Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-delineated behavioural phenotype, the behavioural profile in PTLS is less well defined, despite purported associations with autism spectrum disorder (ASD) and the suggestion that some behaviours may be diametric to those seen in SMS. METHODS: Caregivers of individuals with PTLS (N = 34; M age = 12...
January 10, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29329511/classifying-and-characterizing-the-development-of-adaptive-behavior-in-a-naturalistic-longitudinal-study-of-young-children-with-autism
#2
Cristan Farmer, Lauren Swineford, Susan E Swedo, Audrey Thurm
BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories...
January 5, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29281965/is-dopamine-transporter-mediated-dopaminergic-signaling-in-the-retina-a-noninvasive-biomarker-for-attention-deficit-hyperactivity-disorder-a-study-in-a-novel-dopamine-transporter-variant-val559-transgenic-mouse-model
#3
Heng Dai, Chad R Jackson, Gwynne L Davis, Randy D Blakely, Douglas G McMahon
BACKGROUND: Dopamine (DA) is a critical neuromodulator in the retina. Disruption of retinal DA synthesis and signaling significantly attenuates light-adapted, electroretinogram (ERG) responses, as well as contrast sensitivity and acuity. As these measures can be detected noninvasively, they may provide opportunities to detect disease processes linked to perturbed DA signaling. Recently, we identified a rare, functional DA transporter (DAT, SLC6A3) coding substitution, Ala559Val, in subjects with attention-deficit/hyperactivity disorder (ADHD), demonstrating that DAT Val559 imparts anomalous DA efflux (ADE) with attendant physiological, pharmacological, and behavioral phenotypes...
December 28, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29126394/prospective-study-of-autism-phenomenology-and-the-behavioural-phenotype-of-phelan-mcdermid-syndrome-comparison-to-fragile-x-syndrome-down-syndrome-and-idiopathic-autism-spectrum-disorder
#4
Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson, Christopher Oliver
BACKGROUND: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS...
November 10, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29121855/saccade-adaptation-deficits-in-developmental-dyslexia-suggest-disruption-of-cerebellar-dependent-learning
#5
Edward G Freedman, Sophie Molholm, Michael J Gray, Daniel Belyusar, John J Foxe
BACKGROUND: Estimates of the prevalence of developmental dyslexia in the general population range from 5% to as many as 10%. Symptoms include reading, writing, and language deficits, but the severity and mix of symptoms can vary widely across individuals. In at least some people with dyslexia, the structure and function of the cerebellum may be disordered. Saccadic adaptation requires proper function of the cerebellum and brainstem circuitry and might provide a simple, noninvasive assay for early identification and sub-phenotyping in populations of children who may have dyslexia...
November 9, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28946869/understanding-others-a-pilot-investigation-of-cognitive-and-affective-facets-of-social-cognition-in-patients-with-22q11-2-deletion-syndrome-22q11ds
#6
D Badoud, M Schneider, S Menghetti, B Glaser, M Debbané, S Eliez
BACKGROUND: Although significant impairments in the affective and cognitive facets of social cognition have been highlighted in patients with 22q11.2 deletion syndrome (22q11DS) in previous studies, these domains have never been investigated simultaneously within the same group of participants. Furthermore, despite theoretical evidence, associations between these two processes and schizotypal symptoms or social difficulties in this population have been scarcely examined. METHODS: Twenty-nine participants with 22q11DS and 27 typically developing controls (N = 5 siblings; N = 22 unrelated controls) aged between 11 and 21 years participated in the study...
September 25, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28946865/differential-effects-of-anxiety-and-autism-on-social-scene-scanning-in-males-with-fragile-x-syndrome
#7
REVIEW
Hayley Crawford, Joanna Moss, Chris Oliver, Deborah Riby
BACKGROUND: Existing literature draws links between social attention and socio-behavioural profiles in neurodevelopmental disorders. Fragile X syndrome (FXS) is associated with a known socio-behavioural phenotype of social anxiety and social communication difficulties alongside high social motivation. However, studies investigating social attention in males with FXS are scarce. Using eye tracking, this study investigates social attention and its relationship with both anxiety and autism symptomatology in males with FXS...
September 25, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28903722/eeg-power-at-3%C3%A2-months-in-infants-at-high-familial-risk-for-autism
#8
April R Levin, Kandice J Varcin, Heather M O'Leary, Helen Tager-Flusberg, Charles A Nelson
BACKGROUND: Alterations in brain development during infancy may precede the behavioral manifestation of developmental disorders. Infants at increased risk for autism are also at increased risk for other developmental disorders, including, quite commonly, language disorders. Here we assess the extent to which electroencephalographic (EEG) differences in infants at high versus low familial risk for autism are present by 3 months of age, and elucidate the functional significance of EEG power at 3 months in predicting later development...
September 13, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28889797/an-experimental-study-of-executive-function-and-social-impairment-in-cornelia-de-lange-syndrome
#9
Lisa Nelson, Hayley Crawford, Donna Reid, Joanna Moss, Chris Oliver
BACKGROUND: Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they are related to impairments in executive functioning. METHODS: A familiar and unfamiliar examiner separately engaged in socially demanding tasks comprising three experimental conditions with a group of individuals with CdLS (n = 25; % male = 44; mean age = 22...
September 11, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28870164/attention-and-motor-deficits-index-non-specific-background-liabilities-that-predict-autism-recurrence-in-siblings
#10
Sabine E Mous, Allan Jiang, Arpana Agrawal, John N Constantino
BACKGROUND: Recent research has demonstrated that subclinical autistic traits of parents amplify the effects of deleterious mutations in the causation of autism spectrum disorder (ASD) in their offspring. Here, we examined the extent to which two neurodevelopmental traits that are non-specific to ASD-inattention/hyperactivity and motor coordination-might contribute to ASD recurrence in siblings of ASD probands. METHODS: Data from a quantitative trait study of 114 ASD probands and their brothers, 26% of whom also had ASD, were analyzed...
September 5, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28835209/altered-sensitivity-to-social-gaze-in-the-fmr1-premutation-and-pragmatic-language-competence
#11
Jessica Klusek, Joseph Schmidt, Amanda J Fairchild, Anna Porter, Jane E Roberts
BACKGROUND: The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze as a fundamental social-cognitive skill that may be impaired in the FMR1 premutation and could underlie pragmatic deficits. Given the high prevalence of the FMR1 premutation, efforts to define its phenotype and mechanistic underpinnings have significant public health implications...
August 24, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28806899/executive-functioning-in-cornelia-de-lange-syndrome-domain-asynchrony-and-age-related-performance
#12
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests...
August 15, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28764646/a-randomized-double-blind-placebo-controlled-trial-of-ganaxolone-in-children-and-adolescents-with-fragile-x-syndrome
#13
Andrew Ligsay, Anke Van Dijck, Danh V Nguyen, Reymundo Lozano, Yanjun Chen, Erika S Bickel, David Hessl, Andrea Schneider, Kathleen Angkustsiri, Flora Tassone, Berten Ceulemans, R Frank Kooy, Randi J Hagerman
BACKGROUND: Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve symptoms such as anxiety, hyperactivity, and attention deficits in children with FXS. METHODS: This study was a randomized, double-blind, placebo-controlled, crossover trial of ganaxolone in children with FXS, aged 6-17 years. RESULTS: Sixty-one participants were assessed for eligibility, and 59 were randomized to the study...
August 2, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28728548/social-brain-circuitry-and-social-cognition-in-infants-born-preterm
#14
REVIEW
Angela Fenoglio, Michael K Georgieff, Jed T Elison
Preterm birth is associated with an increased risk of adverse neurologic, psychiatric, and cognitive outcomes. The brain circuits involved in processing social information are critical to all of these domains, but little work has been done to examine whether and how these circuits may be especially sensitive to prematurity. This paper contains a brief summary of some of the cognitive, psychiatric, and social outcomes associated with prematurity, followed by a description of findings from the modest body of research into social-cognitive development in infants and children born preterm...
July 19, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28814979/executive-functioning-in-cornelia-de-lange-syndrome-domain-asynchrony-and-age-related-performance
#15
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28729888/social-brain-circuitry-and-social-cognition-in-infants-born-preterm
#16
REVIEW
Angela Fenoglio, Michael K Georgieff, Jed T Elison
Preterm birth is associated with an increased risk of adverse neurologic, psychiatric, and cognitive outcomes. The brain circuits involved in processing social information are critical to all of these domains, but little work has been done to examine whether and how these circuits may be especially sensitive to prematurity. This paper contains a brief summary of some of the cognitive, psychiatric, and social outcomes associated with prematurity, followed by a description of findings from the modest body of research into social-cognitive development in infants and children born preterm...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28725279/erratum-to-delta-rhythmicity-is-a-reliable-eeg-biomarker-in-angelman-syndrome-a-parallel-mouse-and-human-analysis
#17
Michael S Sidorov, Gina M Deck, Marjan Dolatshahi, Ronald L Thibert, Lynne M Bird, Catherine J Chu, Benjamin D Philpot
[This corrects the article DOI: 10.1186/s11689-017-9195-8.].
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28690687/the-role-of-nonverbal-working-memory-in-morphosyntactic-processing-by-children-with-specific-language-impairment-and-autism-spectrum-disorders
#18
Susan Ellis Weismer, Meghan M Davidson, Ishanti Gangopadhyay, Heidi Sindberg, Hettie Roebuck, Margarita Kaushanskaya
BACKGROUND: Both children with autism spectrum disorders (ASD) and children with specific language impairment (SLI) have been shown to have difficulties with grammatical processing. A comparison of these two populations with neurodevelopmental disorders was undertaken to examine similarities and differences in the mechanisms that may underlie grammatical processing. Research has shown that working memory (WM) is recruited during grammatical processing. The goal of this study was to examine morphosyntactic processing on a grammatical judgment task in children who varied in clinical diagnosis and language abilities and to assess the extent to which performance is predicted by nonverbal working memory (WM)...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28690686/vagus-nerve-stimulation-as-a-potential-adjuvant-to-behavioral-therapy-for-autism-and-other-neurodevelopmental-disorders
#19
REVIEW
Crystal T Engineer, Seth A Hays, Michael P Kilgard
BACKGROUND: Many children with autism and other neurodevelopmental disorders undergo expensive, time-consuming behavioral interventions that often yield only modest improvements. The development of adjunctive interventions that can increase the benefit of rehabilitation therapies is essential in order to improve the lives of individuals with neurodevelopmental disorders. MAIN TEXT: Vagus nerve stimulation (VNS) is an FDA approved therapy that is safe and effective in reducing seizure frequency and duration in individuals with epilepsy...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28649286/autism-spectrum-disorder-and-epileptic-encephalopathy-common-causes-many-questions
#20
REVIEW
Siddharth Srivastava, Mustafa Sahin
Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that are the hallmarks of autism spectrum disorder (ASD). With the advent of next-generation sequencing, the genetic landscape of epileptic encephalopathies is growing and demonstrates overlap with genes separately implicated in ASD. However, many questions remain about this connection, including whether epileptiform activity itself contributes to the development of ASD symptomatology...
2017: Journal of Neurodevelopmental Disorders
journal
journal
42143
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"