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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
#1
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
#2
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
#3
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/29159438/polybrominated-diphenyl-ethers-pbdes-and-hydroxylated-pbdes-in-human-serum-from-shanghai-china-a-study-on-their-presence-and-correlations
#4
Bentuo Xu, Minghong Wu, Mingnan Wang, Chenyuan Pan, Wenhui Qiu, Liang Tang, Gang Xu
Polybrominated diphenyl ethers (PBDEs) are becoming a public health concern because of their potential toxicity, from endocrine disruption system to neurodevelopmental impairments. Nonetheless, information on their levels in human blood is scarce. In this study, human serum samples collected in Shanghai, China, were analyzed for the concentrations of PBDEs and their hydroxylated metabolites (OH-PBDEs). Eight PBDE congeners and six OH-PBDE congeners were quantified in serum samples by gas chromatography with mass spectrometry (GC-MS) and high-performance liquid chromatography with tandem mass spectrometry (HPLC-MS/MS)...
November 20, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29159041/white-matter-alterations-and-their-associations-with-motor-function-in-young-adults-born-preterm-with-very-low-birth-weight
#5
Ingrid Marie Husby Hollund, Alexander Olsen, Jon Skranes, Ann-Mari Brubakk, Asta K Håberg, Live Eikenes, Kari Anne I Evensen
Very low birth weight (VLBW: ≤ 1500 g) individuals have an increased risk of white matter alterations and neurodevelopmental problems, including fine and gross motor problems. In this hospital-based follow-up study, the main aim was to examine white matter microstructure and its relationship to fine and gross motor function in 31 VLBW young adults without cerebral palsy compared with 31 term-born controls, at mean age 22.6 ± 0.7 years. The participants were examined with tests of fine and gross motor function (Trail Making Test-5: TMT-5, Grooved Pegboard, Triangle from Movement Assessment Battery for Children-2: MABC-2 and High-level Mobility Assessment Tool: HiMAT) and diffusion tensor imaging (DTI)...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29158583/patient-derived-ipscs-show-premature-neural-differentiation-and-neuron-type-specific-phenotypes-relevant-to-neurodevelopment
#6
E Yeh, D Q Dao, Z Y Wu, S M Kandalam, F M Camacho, C Tom, W Zhang, R Krencik, K A Rauen, E M Ullian, L A Weiss
Ras/MAPK pathway signaling is a major participant in neurodevelopment, and evidence suggests that BRAF, a key Ras signal mediator, influences human behavior. We studied the role of the mutation BRAF(Q257R), the most common cause of cardiofaciocutaneous syndrome (CFC), in an induced pluripotent stem cell (iPSC)-derived model of human neurodevelopment. In iPSC-derived neuronal cultures from CFC subjects, we observed decreased p-AKT and p-ERK1/2 compared to controls, as well as a depleted neural progenitor pool and rapid neuronal maturation...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29158550/exome-pool-seq-in-neurodevelopmental-disorders
#7
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/29157866/vaginal-progesterone-for-preventing-preterm-birth-and-adverse-perinatal-outcomes-in-singleton-gestations-with-a-short-cervix-a-meta-analysis-of-individual-patient-data
#8
Roberto Romero, Agustin Conde-Agudelo, Eduardo Da Fonseca, John M O'Brien, Elcin Cetingoz, George W Creasy, Sonia S Hassan, Kypros H Nicolaides
BACKGROUND: The efficacy of vaginal progesterone for preventing preterm birth and adverse perinatal outcomes in singleton gestations with a short cervix has been questioned after publication of the OPPTIMUM study. OBJECTIVE: To determine whether vaginal progesterone prevents preterm birth and improves perinatal outcomes in asymptomatic women with a singleton gestation and a midtrimester sonographic short cervix. DATA SOURCES: MEDLINE, EMBASE, LILACS, and CINAHL (from their inception to September 2017), Cochrane databases, bibliographies, and conference proceedings...
November 16, 2017: American Journal of Obstetrics and Gynecology
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
#9
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
#10
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/29155751/dissection-and-immunofluorescent-staining-of-mushroom-body-and-photoreceptor-neurons-in-adult-drosophila-melanogaster-brains
#11
Seth M Kelly, Alexandra Elchert, Michael Kahl
Nervous system development involves a sequential series of events that are coordinated by several signaling pathways and regulatory networks. Many of the proteins involved in these pathways are evolutionarily conserved between mammals and other eukaryotes, such as the fruit fly Drosophila melanogaster, suggesting that similar organizing principles exist during the development of these organisms. Importantly, Drosophila has been used extensively to identify cellular and molecular mechanisms regulating processes that are required in mammals including neurogenesis, differentiation, axonal guidance, and synaptogenesis...
November 6, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29155259/polyi-c-model-of-schizophrenia-in-rats-induces-functional-brain-changes-detected-by-mri-irreversible-by-aripiprazole-treatment
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/29152685/cerebral-palsy-an-overview
#16
REVIEW
Sheffali Gulati, Vishal Sondhi
Cerebral palsy (CP) is a neurodevelopmental disorder characterized by abnormalities of muscle tone, movement and motor skills, and is attributed to injury to the developing brain. The clinical features of this entity evolve over time and the specific CP syndrome may be recognizable only after 3-5 y of age; although suggestive signs and symptoms may be present at an earlier age. The management involves neurological rehabilitation (addressing muscle tonal abnormalities, and devising physical and occupational therapies) and diagnosis and management of co-morbidities (including epilepsy, impairment of cognition, vision, hearing, and disturbances of growth and gastrointestinal function)...
November 20, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29152164/mutations-in-rab39b-in-individuals-with-intellectual-disability-autism-spectrum-disorder-and-macrocephaly
#17
Marc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L Howe, Ny Hoang, Mohammed Uddin, Christian R Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W Scherer
Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene RAB39B segregates with ASD phenotype. Methods: Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29152136/postnatal-calpain-inhibition-elicits-cerebellar-cell-death-and-motor-dysfunction
#18
Junyao Li, Sanjuan Yang, Guoqi Zhu
Calpain-1 deletion elicits neurodevelopmental disorders, such as ataxia. However, the function of calpain in postnatal neurodevelopment and its mechanisms remain unknown. In this study, we revealed that postnatal intraperitoneal injection of various calpain inhibitors attenuated cerebellar cytosolic calpain activity. Moreover, postnatal application of calpeptin (2 mg/kg) apparently reduced spectrin breakdown, promoted suprachiasmatic nucleus circadian oscillatory protein (SCOP) accumulation in cerebellar tissue...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29151084/formal-neurocognitive-testing-in-60-patients-with-congenital-hyperinsulinism
#19
Anja Ludwig, Simone Enke, Janine Heindorf, Susann Empting, Thomas Meissner, Klaus Mohnike
BACKGROUND: Congenital hyperinsulinism (CHI) is hallmarked by persistent hypoketotic hypoglycemia in infancy. In the majority of all patients, CHI is caused by mutations in the KATP channel genes ABCC8 and KCNJ11, but other genes in the insulin-regulatory pathway have also been described. Repeated episodes of hypoglycemia include an increased risk of seizures and intellectual disability. So far, controlled psychometric studies on cognitive, motor, speech, and social-emotional outcome of CHI patients are missing...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#20
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
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