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Neurodevelopmental disorders

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https://www.readbyqxmd.com/read/29168313/children-with-blindness-major-causes-developmental-outcomes-and-implications-for-habilitation-and-educational-support-a-two-decade-swedish-population-based-study
#1
Kim de Verdier, Ek Ulla, Stefan Löfgren, Elisabeth Fernell
PURPOSE: The aim was to describe the population of children with congenital or early infancy blindness in Sweden, with regard to causes of blindness and prevalence of neurodevelopmental impairments. METHODS: Medical, psychological and pedagogical records of Swedish children with congenital or early infancy blindness (total blindness or light perception at the most) born in 1988-2008 were analysed regarding year of birth, gender, cause of blindness, gestational age, associated neurological disorders/syndromes, associated neurodevelopmental impairments, cognitive level and type of school placement...
November 23, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29168207/abnormalities-in-interactions-of-rho-gtpases-with-scaffolding-proteins-contribute-to-neurodevelopmental-disorders
#2
REVIEW
Alexandra Reichova, Martina Zatkova, Zuzana Bacova, Jan Bakos
Accumulating evidence suggests that Rho GTPases, together with scaffolding SHANK proteins, and associated signaling pathways play a role in the development of autism symptoms in various conditions. Research data have brought information on multiple intracellular signaling pathways, including Rho-associated protein kinases and serine/threonine-protein kinases involved in cytoskeleton rearranging. Alterations in downstream effectors of GTPase signaling pathways are associated with neurodevelopmental disorders...
November 23, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29168086/increased-white-matter-metabolic-rates-in-autism-spectrum-disorder-and-schizophrenia
#3
Serge A Mitelman, Monte S Buchsbaum, Derek S Young, M Mehmet Haznedar, Eric Hollander, Lina Shihabuddin, Erin A Hazlett, Marie-Cecile Bralet
Both autism spectrum disorder (ASD) and schizophrenia are often characterized as disorders of white matter integrity. Multimodal investigations have reported elevated metabolic rates, cerebral perfusion and basal activity in various white matter regions in schizophrenia, but none of these functions has previously been studied in ASD. We used (18)fluorodeoxyglucose positron emission tomography to compare white matter metabolic rates in subjects with ASD (n = 25) to those with schizophrenia (n = 41) and healthy controls (n = 55) across a wide range of stereotaxically placed regions-of-interest...
November 22, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29168008/gabaa-receptor-subunit-deregulation-in-the-hippocampus-of-human-foetuses-with-down-syndrome
#4
Ivan Milenkovic, Tamara Stojanovic, Eleonora Aronica, Livia Fülöp, Zsolt Bozsó, Zoltán Máté, Yuchio Yanagawa, Homa Adle-Biassette, Gert Lubec, Gábor Szabó, Tibor Harkany, Gábor G Kovács, Erik Keimpema
The function, regulation and cellular distribution of GABAA receptor subunits have been extensively documented in the adult rodent brain and are linked to numerous neurological disorders. However, there is a surprising lack of knowledge on the cellular (sub-) distribution of GABAA receptor subunits and of their expressional regulation in developing healthy and diseased foetal human brains. To propose a role for GABAA receptor subunits in neurodevelopmental disorders, we studied the developing hippocampus of normal and Down syndrome foetuses...
November 22, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/29165762/recent-perspectives-of-pediatric-neurodevelopmental-disorders
#5
D-L Zhang, S-Z Chen, X-M Liu
The assorted circumstances characterized by malfunctioning in cognition, communication or motor skills lead to abnormal development of the central nervous system (CNS) in young infants. These conditions are collectively termed as neurodevelopmental disorders (NDDs) and are usually diagnosed during childhood or infancy. NDDs occur as frequent as 1-3% in the general population and their diagnostic yield is approximately 15-25% with existing available techniques. So, the majority of affected patients are still undiagnosed due to genetic and phenotypic heterogeneity despite the discovery of 450 genes associated with NDDs...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29165048/psychoradiologic-utility-of-mr-imaging-for-diagnosis-of-attention-deficit-hyperactivity-disorder-a-radiomics-analysis
#6
Huaiqiang Sun, Ying Chen, Qiang Huang, Su Lui, Xiaoqi Huang, Yan Shi, Xin Xu, John A Sweeney, Qiyong Gong
Purpose To identify cerebral radiomic features related to diagnosis and subtyping of attention deficit hyperactivity disorder (ADHD) and to build and evaluate classification models for ADHD diagnosis and subtyping on the basis of the identified features. Materials and Methods A consecutive cohort of 83 age- and sex-matched children with newly diagnosed and never-treated ADHD (mean age 10.83 years ± 2.30; range, 7-14 years; 71 boys, 40 with ADHD-inattentive [ADHD-I] and 43 with ADHD-combined [ADHD-C, or inattentive and hyperactive]) and 87 healthy control subjects (mean age, 11...
November 22, 2017: Radiology
https://www.readbyqxmd.com/read/29165034/congenital-prosopagnosia-without-object-agnosia-a-literature-review
#7
Jacob Geskin, Marlene Behrmann
A longstanding controversy concerns the functional organization of high-level vision, and the extent to which the recognition of different classes of visual stimuli engages a single system or multiple independent systems. We examine this in the context of congenital prosopagnosia (CP), a neurodevelopmental disorder in which individuals, without a history of brain damage, are impaired at face recognition. This paper reviews all CP cases from 1976 to 2016, and explores the evidence for the association or dissociation of face and object recognition...
November 22, 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/29164765/maternal-pre-pregnancy-obesity-and-child-neurodevelopmental-outcomes-a-meta-analysis
#8
REVIEW
C E Sanchez, C Barry, A Sabhlok, K Russell, A Majors, S H Kollins, B F Fuemmeler
This review examined evidence of the association between maternal pre-pregnancy overweight/obesity status and child neurodevelopmental outcomes. PubMed and PsycINFO databases were systematically searched for empirical studies published before April 2017 using keywords related to prenatal obesity and children's neurodevelopment. Of 1483 identified papers, 41 were included in the systematic review, and 32 articles representing 36 cohorts were included in the meta-analysis. Findings indicated that compared with children of normal weight mothers, children whose mothers were overweight or obese prior to pregnancy were at increased risk for compromised neurodevelopmental outcomes (overweight: OR = 1...
November 22, 2017: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29164088/step-initiation-deficits-in-children-with-faulty-posture-diagnosed-with-neurodevelopmental-disorders-during-infancy
#9
Magdalena Stania, Alina Sarat-Spek, Teresa Blacha, Beata Kazek, Kajetan J Słomka, Ewa Emich-Widera, Grzegorz Juras
Background: Early detection of movement deficits during step initiation will facilitate the selection of the optimal physiotherapy management strategy. The main aim of the study was to assess potential differences in step initiation between 5- and 6-year-old children with faulty posture who had been diagnosed with neurodevelopmental disorders during infancy and healthy children. Methods: The experimental group consisted of 19 children aged 5-6 years with faulty posture, who had been diagnosed with neurodevelopmental disorders during infancy and were given physiotherapy in the first year of their lives...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29161919/the-effects-of-adhd-on-cognitive-performance
#10
Emma Claesdotter, Matti Cervin, Sofia Åkerlund, Maria Råstam, Magnus Lindvall
BACKGROUND: Attention-deficit hyperactivity disorder (ADHD) is a common and impairing neurodevelopmental disorder. The Cambridge Neuropsychological Test Automated Battery (CANTAB) is a computerized test battery with standardized procedures and solid psychometric properties targeting multiple neuropsychological functions. AIMS: The aim of this study was to look at the effects of ADHD on cognitive performance using CANTAB expressed as a statistical interaction term in regression modeling...
November 21, 2017: Nordic Journal of Psychiatry
https://www.readbyqxmd.com/read/29160842/environmental-exposure-to-dioxins-dibenzofurans-bisphenol-a-and-phthalates-in-children-with-and-without-autism-spectrum-disorder-living-near-the-gulf-of-mexico
#11
Mohammad H Rahbar, Hanes M Swingle, MacKinsey A Christian, Manouchehr Hessabi, MinJae Lee, Meagan R Pitcher, Sean Campbell, Amy Mitchell, Ryan Krone, Katherine A Loveland, Donald G Patterson
Environmental exposure to organic endocrine disrupting chemicals, including dioxins, dibenzofurans, bisphenol A (BPA), and phthalates has been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD). We conducted a pilot monitoring study of 30 ASD cases and 10 typically developing (TD) controls ages 2-8 years from communities along the Gulf of Mexico near Alabama, which houses 14 Superfund sites, to assess the concentrations of dioxins and dibenzofurans in serum, and BPA and phthalate ester metabolites in urine...
November 21, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29160614/attention-deficit-hyperactivity-disorder-clinical-considerations-for-women
#12
REVIEW
Marisa E Marraccini, Lisa L Weyandt, Bergljot Gyda Gudmundsdottir, Danielle R Oster, Alison McCallum
Attention-deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention. Women with ADHD represent a particularly vulnerable group, given their increased risk for psychosocial and parenting difficulties. Women's health care clinicians should expect to encounter women with diagnosed and undiagnosed ADHD that may or may not be treated. Pharmacologic intervention, namely, prescription stimulants, is an important consideration for pregnant and breastfeeding women with ADHD, especially because the US Food and Drug Administration has determined that there is not enough information to confirm either harm or lack of harm to the developing fetus following exposure to these drugs...
November 21, 2017: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/29159441/a-meta-analysis-of-the-association-between-birth-weight-and-attention-deficit-hyperactivity-disorder
#13
REVIEW
Allison M Momany, Jaclyn M Kamradt, Molly A Nikolas
A large body of work has investigated the association between birth weight and ADHD and has resulted in mixed findings with regard to the direction and magnitude of this association. Despite the vast amount of research on this topic, a comprehensive and systematic quantification of the association between birth weight and ADHD has yet to be undertaken. A meta-analysis of 88 unique studies (N = 4,645,482) was conducted to quantify the overall effect size of birth weight on ADHD symptoms. Several variables were examined as moderators that may contribute to systematic variation in effect sizes...
November 21, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/29158550/exome-pool-seq-in-neurodevelopmental-disorders
#14
Bernt Popp, Arif B Ekici, Christian T Thiel, Juliane Hoyer, Antje Wiesener, Cornelia Kraus, André Reis, Christiane Zweier
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite falling costs this is still an expensive and laborious technique, particularly when studying large cohorts. To address this problem we applied Exome Pool-Seq as an economic and fast screening technology in neurodevelopmental disorders (NDDs). Sequencing of 96 individuals can be performed in eight pools of 12 samples on less than one Illumina sequencer lane. In a pilot study with 96 cases we identified 27 variants, likely or possibly affecting function...
November 20, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29157212/fine-motor-skills-in-a-population-of-children-in-remote-australia-with-high-levels-of-prenatal-alcohol-exposure-and-fetal-alcohol-spectrum-disorder
#15
Robyn Doney, Barbara R Lucas, Rochelle E Watkins, Tracey W Tsang, Kay Sauer, Peter Howat, Jane Latimer, James P Fitzpatrick, June Oscar, Maureen Carter, Elizabeth J Elliott
BACKGROUND: Many children in the remote Fitzroy Valley region of Western Australia have prenatal alcohol exposure (PAE). Individuals with PAE can have neurodevelopmental impairments and be diagnosed with one of several types of Fetal Alcohol Spectrum Disorder (FASD). Fine motor skills can be impaired by PAE, but no studies have developed a comprehensive profile of fine motor skills in a population-based cohort of children with FASD. We aimed to develop a comprehensive profile of fine motor skills in a cohort of Western Australian children; determine whether these differed in children with PAE or FASD; and establish the prevalence of impairment...
November 21, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29156220/the-epilepsy-phenotype-in-adult-patients-with-intellectual-disability-and-pathogenic-copy-number-variants
#16
Giuseppe d'Orsi, Tommaso Martino, Orazio Palumbo, Maria Grazia Pascarella, Pietro Palumbo, Maria Teresa Di Claudio, Carlo Avolio, Massimo Carella
PURPOSE: To characterize the electroclinical features of epilepsy associated with intellectual disability and pathogenic copy number variations (CNVs) METHODS: we prospectively investigated 61 adult patients with epilepsy and intellectual disability or other neurodevelopmental disorders. We performed high resolution SNP-Array analysis in order to detect clinical relevant chromosomal microdeletions and microduplications. An ordinal logistic regression model was fitted with 34 demographic, clinical and EEG-related variables in order to identify the epilepsy phenotype of patients with pathogenic CNVs...
November 14, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29155259/polyi-c-model-of-schizophrenia-in-rats-induces-functional-brain-changes-detected-by-mri-irreversible-by-aripiprazole-treatment
#17
Eva Drazanova, Jana Ruda-Kucerova, Lucie Kratka, Katerina Horska, Regina Demlova, Zenon Starcuk, Tomas Kasparek
BACKGROUND AND PURPOSE: One of the hallmarks of schizophrenia is altered brain structure, potentially due to antipsychotic treatment, the disorder itself or both. It was proposed that functional changes may precede the structural ones. In order to understand and potentially prevent this unwanted process, brain function assessment should be validated as a diagnostic tool. METHODS: We used Arterial Spin Labelling MRI technique for the evaluation of brain perfusion in several brain regions in a neurodevelopmental poly(I:C) model of schizophrenia (8 mg/kg on a gestational day 15) in rats taking into account sex-dependent effects and chronic treatment with aripiprazole (30 days), an atypical antipsychotic acting as a partial agonist on dopaminergic receptors...
November 16, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/29154930/suicide-attempts-in-children-and-adolescents-the-place-of-clock-genes-and-early-rhythm-dysfunction
#18
Bertrand Olliac, Lisa Ouss, Annaëlle Charrier
Suicide remains one of the leading causes of death among young people, and suicidal ideation and behavior are relatively common in healthy and clinical populations. Suicide risk in childhood and adolescence is often approached from the perspective of nosographic categories to which predictive variables for suicidal acts are often linked. The cascading effects resulting from altered clock genes in a pediatric population could participate in biological rhythm abnormalities and the emergence of suicide attempts through impaired regulation of circadian rhythms and emotional states with neurodevelopmental effects...
November 14, 2017: Journal of Physiology, Paris
https://www.readbyqxmd.com/read/29154489/characteristics-of-prisoners-with-intellectual-disabilities
#19
E Chaplin, J McCarthy, L Underwood, A Forrester, H Hayward, J Sabet, R Mills, S Young, P Asherson, D Murphy
BACKGROUND: Previous studies have found high rates of intellectual disabilities (ID) in prison. However, little is understood about prisoners with ID. This study aimed to identify prisoners with ID and compare their characteristics with prisoners without neurodevelopmental disorders with regard to demographic profile, mental health, suicide risk and offences. METHOD: This was a descriptive, cross-sectional study carried out using face-to-face interviews with 240 participants in a London Category C prison...
December 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29152845/association-of-immp2l-deletions-with-autism-spectrum-disorder-a-trio-family-study-and-meta-analysis
#20
Yanqing Zhang, Yi Liu, Mehdi Zarrei, Winnie Tong, Rui Dong, Ying Wang, Haiyan Zhang, Xiaomeng Yang, Jeffrey R MacDonald, Mohammed Uddin, Stephen W Scherer, Zhongtao Gai
IMMP2L, the gene encoding the inner mitochondrial membrane peptidase subunit 2-like protein, has been reported as a candidate gene for Tourette syndrome, autism spectrum disorder (ASD) and additional neurodevelopmental disorders. Here we genotyped 100 trio families with an index proband with autism spectrum disorder in Han Chinese population and found three cases with rare exonic IMMP2L deletions. We have conducted a comprehensive meta-analysis to quantify the association of IMMP2L deletions with ASD using 5,568 cases and 10,279 controls...
November 20, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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