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https://www.readbyqxmd.com/read/28337952/prenatal-maternal-stress-shapes-children-s-theory-of-mind-the-qf2011-queensland-flood-study
#1
G Simcock, S Kildea, G Elgbeili, D P Laplante, V Cobham, S King
Research shows that stress in pregnancy has powerful and enduring effects on many facets of child development, including increases in behavior problems and neurodevelopmental disorders. Theory of mind is an important aspect of child development that is predictive of successful social functioning and is impaired in children with autism. A number of factors related to individual differences in theory of mind have been identified, but whether theory of mind development is shaped by prenatal events has not yet been examined...
March 24, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28337123/analysis-of-the-serotonergic-system-in-a-mouse-model-of-rett-syndrome-reveals-unusual-upregulation-of-serotonin-receptor-5b
#2
Steffen Vogelgesang, Sabine Niebert, Ute Renner, Wiebke Möbius, Swen Hülsmann, Till Manzke, Marcus Niebert
Mutations in the transcription factor methyl-CpG-binding-protein 2 (MeCP2) cause a delayed-onset neurodevelopmental disorder known as Rett syndrome (RTT). Although alteration in serotonin levels have been reported in RTT patients, the molecular mechanisms underlying these defects are not well understood. Therefore, we chose to investigate the serotonergic system in hippocampus and brainstem of male Mecp2(-/y) knock-out mice in the B6.129P2(C)-Mecp2(tm1.1Bird) mouse model of RTT. The serotonergic system in mouse is comprised of 16 genes, whose mRNA expression profile was analyzed by quantitative RT-PCR...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28335876/child-abuse-neural-structure-and-adolescent-psychopathology-a-longitudinal-study
#3
Daniel S Busso, Katie A McLaughlin, Stephanie Brueck, Matthew Peverill, Andrea L Gold, Margaret A Sheridan
OBJECTIVE: Child abuse exerts a deleterious impact on a broad array of mental health outcomes. However, the neurobiological mechanisms that mediate this association remain poorly characterized. Here, we use a longitudinal design to prospectively identify neural mediators of the association between child abuse and psychiatric disorders in a community sample of adolescents. METHOD: Structural magnetic resonance imaging (MRI) data and assessments of mental health were acquired for 51 adolescents (aged 13-20; M=16...
April 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28335874/course-of-tourette-syndrome-and-comorbidities-in-a-large-prospective-clinical-study
#4
Camilla Groth, Nanette Mol Debes, Charlotte Ulrikka Rask, Theis Lange, Liselotte Skov
OBJECTIVE: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by tics and frequent comorbidities. Although tics often improve during adolescence, recent studies suggest that comorbid obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) tend to persist. This large prospective follow-up study describes the clinical course of tics and comorbidities during adolescence and the prevalence of coexisting psychopathologies. METHOD: The clinical cohort was recruited at the Danish National Tourette Clinic, and data were collected at baseline (n = 314, age range 5-19 years) and at follow-up 6 years later (n = 227) to establish the persistence and severity of tics and comorbidities...
April 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28335872/cognitive-impairment-in-euthymic-pediatric-bipolar-disorder-a-systematic-review-and-meta-analysis
#5
REVIEW
Liana R Elias, Kamilla W Miskowiak, Antônio M O Vale, Cristiano A Köhler, Hanne L Kjærstad, Brendon Stubbs, Lars V Kessing, Eduard Vieta, Michael Maes, Benjamin I Goldstein, André F Carvalho
OBJECTIVE: To perform a systematic review and meta-analysis of studies investigating neurocognition in euthymic youths with bipolar disorder (BD) compared to healthy controls (HCs). METHOD: A systematic literature search was conducted in the PubMed/MEDLINE, PsycINFO, and EMBASE databases from inception up until March 23, 2016, for original peer-reviewed articles that investigated neurocognition in euthymic youths with BD compared to HCs. Effect sizes (ES) for individual tests were extracted...
April 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28335457/the-epigenetic-link-between-prenatal-adverse-environments-and-neurodevelopmental-disorders
#6
REVIEW
Marija Kundakovic, Ivana Jaric
Prenatal adverse environments, such as maternal stress, toxicological exposures, and viral infections, can disrupt normal brain development and contribute to neurodevelopmental disorders, including schizophrenia, depression, and autism. Increasing evidence shows that these short- and long-term effects of prenatal exposures on brain structure and function are mediated by epigenetic mechanisms. Animal studies demonstrate that prenatal exposure to stress, toxins, viral mimetics, and drugs induces lasting epigenetic changes in the brain, including genes encoding glucocorticoid receptor (Nr3c1) and brain-derived neurotrophic factor (Bdnf)...
March 18, 2017: Genes
https://www.readbyqxmd.com/read/28334956/prune-is-crucial-for-normal-brain-development-and-mutated-in-microcephaly-with-neurodevelopmental-impairment
#7
Massimo Zollo, Mustafa Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Marianeve Carotenuto, Reza Maroofian, Ahmed Al-Amri, Royana Singh, Iolanda Scognamiglio, Majid Mojarrad, Luca Musella, Angela Duilio, Angela Di Somma, Ender Karaca, Anna Rajab, Aisha Al-Khayat, Tribhuvan Mohan Mohapatra, Atieh Eslahi, Farah Ashrafzadeh, Lettie E Rawlins, Rajniti Prasad, Rashmi Gupta, Preeti Kumari, Mona Srivastava, Flora Cozzolino, Sunil Kumar Rai, Maria Monti, Gaurav V Harlalka, Michael A Simpson, Philip Rich, Fatema Al-Salmi, Michael A Patton, Barry A Chioza, Stephanie Efthymiou, Francesca Granata, Gabriella Di Rosa, Sarah Wiethoff, Eugenia Borgione, Carmela Scuderi, Kshitij Mankad, Michael G Hanna, Piero Pucci, Henry Houlden, James R Lupski, Andrew H Crosby, Emma L Baple
PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE...
February 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334953/early-motor-phenotype-detection-in-a-female-mouse-model-of-rett-syndrome-is-improved-by-cross-fostering
#8
Annie Vogel Ciernia, Michael Pride, Blythe Durbin-Johnson, Adriana Noronha, Alene Chang, Dag H Yasui, Jacqueline N Crawley, Janine M LaSalle
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) that occur sporadically in 1:10,000 female births. RTT is characterized by a period of largely normal development followed by regression in language and motor skills at 6-18 months of age. Mecp2 mutant mice recapitulate many of the clinical features of RTT, but the majority of behavioral assessments have been conducted in male Mecp2 hemizygous null mice as offspring of heterozygous dams...
March 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334226/loss-of-cannabinoid-cb-1-receptors-induces-cortical-migration-malformations-and-increases-seizure-susceptibility
#9
Javier Díaz-Alonso, Adán de Salas-Quiroga, Juan Paraíso-Luna, Daniel García-Rincón, Patricia P Garcez, Maddy Parsons, Clara Andradas, Cristina Sánchez, François Guillemot, Manuel Guzmán, Ismael Galve-Roperh
Neuronal migration is a fundamental process of brain development, and its disruption underlies devastating neurodevelopmental disorders. The transcriptional programs governing this process are relatively well characterized. However, how environmental cues instruct neuronal migration remains poorly understood. Here, we demonstrate that the cannabinoid CB 1 receptor is strictly required for appropriate pyramidal neuron migration in the developing cortex. Acute silencing of the CB 1 receptor alters neuronal morphology and impairs radial migration...
October 5, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/28333849/autism-spectrum-disorder-in-males-with-sex-chromosome-aneuploidy-xxy-klinefelter-syndrome-xyy-and-xxyy
#10
Nicole R Tartaglia, Rebecca Wilson, Judith S Miller, Jessica Rafalko, Lisa Cordeiro, Shanlee Davis, David Hessl, Judith Ross
OBJECTIVE: Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD diagnoses in SCA. METHODS: Evaluation of participants with XXY/KS (n=20), XYY (n=57) and XXYY (n=21) included medical history, cognitive/adaptive testing, Social Communication Questionnaire, Social Responsiveness Scale, Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, and DSM ASD criteria...
March 21, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28332245/parental-attributions-for-positive-behaviours-in-children-with-autism-spectrum-disorder
#11
P Bussanich, S L Hartley, D Bolt
BACKGROUND: The present study examined parental attributions for positive child behaviour in children with Autism Spectrum Disorder (ASD) and their association with parent outcomes. METHOD: In total, 175 couples who had a child with ASD (5-12 years) completed measures about the child's positive behaviour, ASD symptoms, functional skills and negative behaviour problems, and their own positive and negative affect and closeness in the parent-child relationship. A comparison group of 170 couples who had a child without a neurodevelopmental disability also completed measures...
March 22, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28331639/emerging-synaptic-molecules-as-candidates-in-the-etiology-of-neurological-disorders
#12
REVIEW
Viviana I Torres, Daniela Vallejo, Nibaldo C Inestrosa
Synapses are complex structures that allow communication between neurons in the central nervous system. Studies conducted in vertebrate and invertebrate models have contributed to the knowledge of the function of synaptic proteins. The functional synapse requires numerous protein complexes with specialized functions that are regulated in space and time to allow synaptic plasticity. However, their interplay during neuronal development, learning, and memory is poorly understood. Accumulating evidence links synapse proteins to neurodevelopmental, neuropsychiatric, and neurodegenerative diseases...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28331554/altered-functional-resting-state-hypothalamic-connectivity-and-abnormal-pituitary-morphology-in-children-with-prader-willi-syndrome
#13
Akvile Lukoshe, Suzanne E van Dijk, Gerbrich E van den Bosch, Aad van der Lugt, Tonya White, Anita C Hokken-Koelega
BACKGROUND: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional connectivity with other brain regions. Thus, the aim of this study was to examine the anatomical differences of the hypothalamus, mammillary bodies, and pituitary gland as well as resting state functional connectivity of the hypothalamus in children with PWS...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28330790/outcomes-of-diagnostic-exome-sequencing-in-patients-with-diagnosed-or-suspected-autism-spectrum-disorders
#14
Mari Rossi, Dima El-Khechen, Mary Helen Black, Kelly D Farwell Hagman, Sha Tang, Zöe Powis
BACKGROUND: Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS: We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%). RESULTS: The diagnostic yield observed in patients in our cohort was 25...
February 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28330777/altered-visual-repetition-suppression-in-fragile-x-syndrome-new-evidence-from-erps-and-oscillatory-activity
#15
Simon Rigoulot, Inga S Knoth, Marc-Philippe Lafontaine, Phetsamone Vannasing, Philippe Major, Sébastien Jacquemont, Jacques L Michaud, Karim Jerbi, Sarah Lippe
Fragile X Syndrome (FXS) is a neurodevelopmental genetic disorder associated with cognitive and behavioural deficits. In particular, neuronal habituation processes have been shown to be altered in FXS patients. Yet, while such deficits have been primarily explored using auditory stimuli, less is known in the visual modality. Here, we investigated the putative alteration of repetition suppression using faces in FXS patients compared to controls that had the same age distribution. Electroencephalographic (EEG) signals were acquired while participants were presented with 18 different faces, each repeated ten times successively...
March 19, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28330718/adult-glucocorticoid-receptor-mrna-expression-volatility-in-response-to-an-acute-stressor-and-juvenile-csf-corticotropin-releasing-factor-a-pilot-neurodevelopmental-study
#16
Shariful A Syed, Eric L P Smith, Olcay Batuman, Leonard A Rosenblum, Michael J Owens, Charles B Nemeroff, Jeremy D Coplan
INTRODUCTION: Early life stress (ELS) has been shown to play a role in establishing persistent maladaptive HPA axis modifications that may contribute to the pathogenesis of mood and anxiety disorders. Central glucocorticoid receptor (GR) messenger RNA (mRNA) expression may facilitate (mal)adaptive responsivity to ELS. The role of adult monocytic GR mRNA expression, a putative CNS proxy, during acute stress exposure was explored as well as the ELS marker, juvenile cerebrospinal fluid (CSF) corticotropin-releasing factor...
March 19, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#17
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28326463/relationship-between-selenium-lead-and-mercury-in-red-blood-cells-of-saudi-autistic-children
#18
Afaf El-Ansary, Geir Bjørklund, Alexey A Tinkov, Anatoly V Skalny, Hussain Al Dera
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that can cause significant social, communication and behavioral challenges. Environmental contribution to ASD is due in large part to the sensitivity of the developing brain to external exposures such as lead (Pb), and mercury (Hg) as toxic heavy metals or due to a poor detoxification ability as the phenotype of this disorder. Selenium (Se) as an antioxidant element that counteracts the neurotoxicity of Hg, and Pb, presumably through the formation of nontoxic complexes...
March 21, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28326198/could-perinatal-asphyxia-induce-a-synaptopathy-new-highlights-from-an-experimental-model
#19
REVIEW
María Inés Herrera, Matilde Otero-Losada, Lucas Daniel Udovin, Carlos Kusnier, Rodolfo Kölliker-Frers, Wanderley de Souza, Francisco Capani
Birth asphyxia also termed perinatal asphyxia is an obstetric complication that strongly affects brain structure and function. Central nervous system is highly susceptible to oxidative damage caused by perinatal asphyxia while activation and maturity of the proper pathways are relevant to avoiding abnormal neural development. Perinatal asphyxia is associated with high morbimortality in term and preterm neonates. Although several studies have demonstrated a variety of biochemical and molecular pathways involved in perinatal asphyxia physiopathology, little is known about the synaptic alterations induced by perinatal asphyxia...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28326016/early-origin-and-evolution-of-the-angelman-syndrome-ubiquitin-ligase-gene-ube3a
#20
REVIEW
Masaaki Sato
The human Ube3a gene encodes an E3 ubiquitin ligase and exhibits brain-specific genomic imprinting. Genetic abnormalities that affect the maternal copy of this gene cause the neurodevelopmental disorder Angelman syndrome (AS), which is characterized by severe mental retardation, speech impairment, seizure, ataxia and some unique behavioral phenotypes. In this review article, I highlight the evolution of the Ube3a gene and its imprinting to provide evolutionary insights into AS. Recent comparative genomic studies have revealed that Ube3a is most phylogenetically similar to HECTD2 among the human HECT (homologous to the E6AP carboxyl terminus) family of E3 ubiquitin ligases, and its distant evolutionary origin can be traced to common ancestors of fungi and animals...
2017: Frontiers in Cellular Neuroscience
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