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https://www.readbyqxmd.com/read/28551757/genetic-and-pharmacological-reversibility-of-phenotypes-in-mouse-models-of-autism-spectrum-disorder
#1
Jan C Schroeder, Elena Deliu, Gaia Novarino, Michael J Schmeisser
As autism spectrum disorder (ASD) is largely regarded as a neurodevelopmental condition, long-time consensus was that its hallmark features are irreversible. However, several studies from recent years using defined mouse models of ASD have provided clear evidence that in mice neurobiological and behavioural alterations can be ameliorated or even reversed by genetic restoration or pharmacological treatment either before or after symptom onset. Here, we review findings on genetic and pharmacological reversibility of phenotypes in mouse models of ASD...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28551753/cerebellar-and-striatal-pathologies-in-mouse-models-of-autism-spectrum-disorder
#2
Saša Peter, Chris I De Zeeuw, Tobias M Boeckers, Michael J Schmeisser
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component. To date, several hundred different genetic mutations have been identified to play a role in its aetiology. The heterogeneity of genetic abnormalities combined with the different brain regions where aberrations are found makes the search for causative mechanisms a daunting task. Even within a limited number of brain regions, a myriad of different neural circuit dysfunctions may lead to ASD. Here, we review mouse models that incorporate mutations of ASD risk genes causing pathologies in the cerebellum and striatum and highlight the vulnerability of related circuit dysfunctions within these brain regions in ASD pathophysiology...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28551752/behavioural-phenotypes-and-neural-circuit-dysfunctions-in-mouse-models-of-autism-spectrum-disorder
#3
Allain-Thibeault Ferhat, Sonja Halbedl, Michael J Schmeisser, Martien J Kas, Thomas Bourgeron, Elodie Ey
Autism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterised by alterations in social interaction and communication combined with the presence of restricted interests and stereotyped behaviours. Mutations in several genes have been associated with ASD resulting in the generation of corresponding mouse models. Here, we focus on the behavioural (social and stereotyped behaviours), functional and structural traits of mice with mutations in genes encoding defined synaptic proteins including adhesion proteins, scaffolding proteins and subunits of channels and receptors...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28551750/modelling-autistic-neurons-with-induced-pluripotent-stem-cells
#4
Annie Kathuria, Carlo Sala, Chiara Verpelli, Jack Price
Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects more than 1% of children per current estimates. It has been characterised by the following two core behavioural phenotypes: (1) deficits in social interaction and communication and (2) repetitive behaviours, restricted interests and activities. Due to the complex nature of ASD, there are currently no effective treatments. The reason behind this is the clinical and genetic heterogeneity between affected individuals on the one hand and the lack of understanding of the underpinning pathophysiological mechanisms on the other hand...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28551749/neuroanatomy-and-neuropathology-of-autism-spectrum-disorder-in-humans
#5
Christine Ecker, Michael J Schmeisser, Eva Loth, Declan G Murphy
Autism spectrum disorder (ASD) is a lifelong heterogeneous neurodevelopmental condition that is associated with differences in brain anatomy and connectivity. Yet, the molecular and cellular mechanisms that underpin the atypical developmental of the brain in ASD remain poorly understood. Here, we review the findings of in vivo neuroimaging studies examining the time course of atypical brain development in ASD and relate the different neurodevelopmental stages that are atypical in ASD to the known neurobiological mechanisms that drive the maturation of the typically developing brain...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28551748/anatomy-and-cell-biology-of-autism-spectrum-disorder-lessons-from-human-genetics
#6
Kristel T E Kleijer, Guillaume Huguet, Julie Tastet, Thomas Bourgeron, J P H Burbach
Until recently autism spectrum disorder (ASD) was regarded as a neurodevelopmental condition with unknown causes and pathogenesis. In the footsteps of the revolution of genome technologies and genetics, and with its high degree of heritability, ASD became the first neuropsychiatric disorder for which clues towards molecular and cellular pathogenesis were uncovered by genetic identification of susceptibility genes. Currently several hundreds of risk genes have been assigned, with a recurrence below 1% in the ASD population...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28549654/congenital-heart-defects-and-measures-of-prenatal-brain-growth-a-systematic-review
#7
REVIEW
Thommy Hansen, Tine Brink Henriksen, Cathrine Carlsen Bach, Niels Bjerregård Matthiesen
BACKGROUND: We summarize the evidence for an association between congenital heart defects and prenatal brain growth through a systematic literature review. Congenital heart defects are among the most common malformations, affecting approximately six per 1000 live births. The association between congenital heart defects and long-term neurodevelopmental disorders is well established. Increasing evidence suggests an association between impaired prenatal brain growth and neurodevelopmental disorders in children with congenital heart defects...
April 1, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28549057/both-antenatal-and-postnatal-inflammation-contribute-information-about-the-risk-of-brain-damage-in-extremely-preterm-newborns
#8
Diana Yanni, Steven Korzeniewski, Elizabeth N Allred, Raina N Fichorova, T Michael O'Shea, Karl Kuban, Olaf Dammann, Alan Leviton
BACKGROUNDPreterm newborns exposed to intrauterine inflammation are at increased risk of neurodevelopmental disorders. We hypothesized that adverse outcomes are more strongly associated with a combination of antenatal and postnatal inflammation than with either of them alone.METHODSWe defined antenatal inflammation as histologic inflammation in the placenta. We measured the concentrations of seven inflammation-related proteins in blood obtained on postnatal days 1, 7, and 14 from 763 infants born before 28 weeks of gestation...
May 26, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28548616/pediatric-superior-semicircular-canal-dehiscence-illustrative-case-and-systematic-review
#9
Carlito Lagman, Vera Ong, Lawrance K Chung, Lekaa Elhajjmoussa, Christina Fong, Anthony C Wang, Quinton Gopen, Isaac Yang
OBJECTIVE The purpose of this study is to present an illustrative case of pediatric superior semicircular canal dehiscence (SSCD) and to systematically review the current published literature in the pediatric population. METHODS An electronic search of the Scopus, Web of Science, PsycINFO, Cochrane, and Embase databases was performed by 2 independent authors through January 2017. Search term combinations included "pediatrics," "children," "canal," and "dehiscence." Inclusion criteria were as follows: English, full-text clinical studies, case reports, and case series describing pediatric patient(s) (younger than 18 years) with CT evidence of SSCD...
May 26, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28546752/essence-q-used-as-a-screening-tool-for-neurodevelopmental-problems-in-public-health-checkups-for-young-children-in-south-japan
#10
Yuhei Hatakenaka, Hitoshi Ninomiya, Eva Billstedt, Elisabeth Fernell, Christopher Gillberg
BACKGROUND: Screening for developmental disorders is an important task for Child Health Care. The concept of ESSENCE (early symptomatic syndromes eliciting neurodevelopmental clinical examinations) was created to cover all types of early developmental disorders and the ESSENCE-Questionnaire (ESSENCE-Q containing 12 questions with possible total scores ranging from 0 to 22) was developed as a tool for early detection of these disorders. The aim of this study was to perform a validation study in a public health situation in Japan...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28546341/intra-generational-protein-malnutrition-impairs-temporal-astrogenesis-in-rat-brain
#11
Aijaz Ahmad Naik, Nisha Patro, Pankaj Seth, Ishan K Patro
The scanty information on astrogenesis following stressor effect, albeit imperative roles of astroglia in normal physiology and pathophysiology, incited us to assess temporal astrogenesis and astrocyte density in an intra-generational protein malnutrition (PMN) rat model. Standard immunohistochemical procedures for glial lineage markers and their intensity measurements and qRT-PCR studies were performed to reveal the spatio-temporal origin and density of astrocytes. Reduced A2B5+ glia restricted precursor population in ventricles and poor dissemination to cortex at embryonic days (E)11-14, low BLBP+ secondary radial glia in SVZ of E16 LP brains reflect compromised progenitor pooling...
May 25, 2017: Biology Open
https://www.readbyqxmd.com/read/28544218/genome-wide-mediation-analysis-of-psychiatric-and-cognitive-traits-through-imaging-phenotypes
#12
Xuan Bi, Liuqing Yang, Tengfei Li, Baisong Wang, Hongtu Zhu, Heping Zhang
Heritability is well documented for psychiatric disorders and cognitive abilities which are, however, complex, involving both genetic and environmental factors. Hence, it remains challenging to discover which and how genetic variations contribute to such complex traits. In this article, they propose to use mediation analysis to bridge this gap, where neuroimaging phenotypes were utilized as intermediate variables. The Philadelphia Neurodevelopmental Cohort was investigated using genome-wide association studies (GWAS) and mediation analyses...
May 22, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28544139/rettbase-rett-syndrome-database-update
#13
Rahul Krishnaraj, Gladys Ho, John Christodoulou
Rett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that primarily affects females. Mutations in the MECP2 gene have been attributed as the major genetic cause of Rett syndrome. Recently, mutations in CDKL5 and FOXG1 genes have also been suggested to give rise to Rett syndrome, although subsequent more extensive studies suggest that diseases resulting from mutations in these two genes should be considered as distinct clinical entities. While the genetic basis for the Rett syndrome has been recognized, so far there is no effective cure for the disease and the treatments available are mainly aimed at ameliorating clinical problems associated with the disorder...
May 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28542383/performance-in-eyeblink-conditioning-is-age-and-sex-dependent
#14
Karolina Löwgren, Rasmus Bååth, Anders Rasmussen, Henk-Jan Boele, Sebastiaan K E Koekkoek, Chris I De Zeeuw, Germund Hesslow
A growing body of evidence suggests that the cerebellum is involved in both cognition and language. Abnormal cerebellar development may contribute to neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD), autism, fetal alcohol syndrome, dyslexia, and specific language impairment. Performance in eyeblink conditioning, which depends on the cerebellum, can potentially be used to clarify the neural mechanisms underlying the cerebellar dysfunction in disorders like these. However, we must first understand how the performance develops in children who do not have a disorder...
2017: PloS One
https://www.readbyqxmd.com/read/28542319/shared-and-differentiated-motor-skill-impairments-in-children-with-dyslexia-and-or-attention-deficit-disorder-from-simple-to-complex-sequential-coordination
#15
Marie-Ève Marchand-Krynski, Olivier Morin-Moncet, Anne-Marie Bélanger, Miriam H Beauchamp, Gabriel Leonard
Dyslexia and Attention deficit disorder (AD) are prevalent neurodevelopmental conditions in children and adolescents. They have high comorbidity rates and have both been associated with motor difficulties. Little is known, however, about what is shared or differentiated in dyslexia and AD in terms of motor abilities. Even when motor skill problems are identified, few studies have used the same measurement tools, resulting in inconstant findings. The present study assessed increasingly complex gross motor skills in children and adolescents with dyslexia, AD, and with both Dyslexia and AD...
2017: PloS One
https://www.readbyqxmd.com/read/28541473/relationship-between-synaptic-ampar-and-spine-dynamics-impairments-in-the-fxs-mouse
#16
Anand Suresh, Anna Dunaevsky
Structural dynamics of dendritic spines are important for memory and learning and are impaired in neurodevelopmental disorders such as fragile X syndrome. Spine dynamics are regulated by activity-dependent mechanisms that involve modulation of AMPA receptors (AMPAR); however, the relationship between AMPAR and spine dynamics in vivo and how these are altered in FXS mouse model is not known. Here, we tracked AMPAR and spines over multiple days in vivo in the cortex and found that dendritic spines in the fmr1 KO mouse were denser, smaller, had higher turnover rates and contained less sGluA2 compared to littermate controls...
May 24, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28540609/mental-health-problems-in-austrian-adolescents-a-nationwide-two-stage-epidemiological-study-applying-dsm-5-criteria
#17
Gudrun Wagner, Michael Zeiler, Karin Waldherr, Julia Philipp, Stefanie Truttmann, Wolfgang Dür, Janet L Treasure, Andreas F K Karwautz
This is a nationwide epidemiological study using DSM-5 criteria to assess the prevalence of mental disorders in a large sample of Austrian adolescents between 10 and 18 years including hard-to-reach samples. A sample of 3615 adolescents from four cohorts (school grades 5, 7, 9, 11; age range 10-18 years) was recruited from 261 schools, samples of unemployed adolescents (n = 39) and adolescents from mental health institutions (n = 137) were added. The Youth Self-Report and SCOFF were used to screen for mental health problems...
May 24, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28540026/meta-analysis-of-gwas-of-over-16-000-individuals-with-autism-spectrum-disorder-highlights-a-novel-locus-at-10q24-32-and-a-significant-overlap-with-schizophrenia
#18
(no author information available yet)
BACKGROUND: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28539882/function-and-dysfunction-of-microglia-during-brain-development-consequences-for-synapses-and-neural-circuits
#19
REVIEW
Rosa C Paolicelli, Maria T Ferretti
Many diverse factors, ranging from stress to infections, can perturb brain homeostasis and alter the physiological activity of microglia, the immune cells of the central nervous system. Microglia play critical roles in the process of synaptic maturation and brain wiring during development. Any perturbation affecting microglial physiological function during critical developmental periods could result in defective maturation of synaptic circuits. In this review, we critically appraise the recent literature on the alterations of microglial activity induced by environmental and genetic factors occurring at pre- and early post-natal stages...
2017: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/28538662/maternal-factors-that-induce-epigenetic-changes-contribute-to-neurological-disorders-in-offspring
#20
REVIEW
Avijit Banik, Deepika Kandilya, Seshadri Ramya, Walter Stünkel, Yap Seng Chong, S Thameem Dheen
It is well established that the regulation of epigenetic factors, including chromatic reorganization, histone modifications, DNA methylation, and miRNA regulation, is critical for the normal development and functioning of the human brain. There are a number of maternal factors influencing epigenetic pathways such as lifestyle, including diet, alcohol consumption, and smoking, as well as age and infections (viral or bacterial). Genetic and metabolic alterations such as obesity, gestational diabetes mellitus (GDM), and thyroidism alter epigenetic mechanisms, thereby contributing to neurodevelopmental disorders (NDs) such as embryonic neural tube defects (NTDs), autism, Down's syndrome, Rett syndrome, and later onset of neuropsychological deficits...
May 24, 2017: Genes
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