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neurodevelopmental disorder

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https://www.readbyqxmd.com/read/28436345/evidence-that-polygenic-risk-for-psychotic-disorder-is-expressed-in-the-domain-of-neurodevelopment-emotion-regulation-and-attribution-of-salience
#1
J van Os, Y van der Steen, Md A Islam, S Gülöksüz, B P Rutten, C J Simons
BACKGROUND: The liability-threshold model of psychosis risk predicts stronger phenotypic manifestation of the polygenic risk score (PRS) in the healthy relatives of patients, as compared with healthy comparison subjects. METHODS: First-degree relatives of patients with psychotic disorder (871 siblings and 812 parents) and healthy comparison subjects (n = 523) were interviewed three times in 6 years. Repeated measures of two psychosis phenotypes, the Community Assessment of Psychic Experiences (CAPE; self-report - subscales of positive, negative and depressive symptoms) and the Structured Interview for Schizotypy - Revised (SIS-R; clinical interview - subscales of positive and negative schizotypy), were examined for association with PRS...
April 24, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28434949/maternal-immune-activation-during-pregnancy-in-rats-impairs-working-memory-capacity-of-the-offspring
#2
Brendan G Murray, Don A Davies, Joel J Molder, John G Howland
Maternal immune activation during pregnancy is an environmental risk factor for psychiatric illnesses such as schizophrenia in the offspring. Patients with schizophrenia display an array of cognitive symptoms, including impaired working memory capacity. Rodent models have been developed to understand the relationship between maternal immune activation and the cognitive symptoms of schizophrenia. The present experiment was designed to test whether maternal immune activation with the viral mimetic polyinosinic:polycytidylic acid (polyI:C) during pregnancy affects working memory capacity of the offspring...
April 18, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/28434869/worms-on-the-spectrum-c-elegans-models-in-autism-research
#3
REVIEW
Kathrin Schmeisser, J Alex Parker
The small non-parasitic nematode Caenorhabditis elegans is widely used in neuroscience thanks to its well-understood development and lineage of the nervous system. Furthermore, C. elegans has been used to model many human developmental and neurological conditions to better understand disease mechanisms and identify potential therapeutic strategies. Autism spectrum disorder (ASD) is the most prevalent of all neurodevelopmental disorders, and the C. elegans system may provide opportunities to learn more about this complex disorder...
April 20, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28434657/corrigendum-to-human-grin2b-variants-in-neurodevelopmental-disorders-j-pharmacol-sci-132-2-115-121
#4
Chun Hu, Wenjuan Chen, Scott J Myers, Hongjie Yuan, Stephen F Traynelis
No abstract text is available yet for this article.
April 12, 2017: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/28434615/searching-for-cross-diagnostic-convergence-neural-mechanisms-governing-excitation-and-inhibition-balance-in-schizophrenia-and-autism-spectrum-disorders
#5
REVIEW
Jennifer H Foss-Feig, Brendan D Adkinson, Jie Lisa Ji, Genevieve Yang, Vinod H Srihari, James C McPartland, John H Krystal, John D Murray, Alan Anticevic
Recent theoretical accounts have proposed excitation and inhibition (E/I) imbalance as a possible mechanistic, network-level hypothesis underlying neural and behavioral dysfunction across neurodevelopmental disorders, particularly autism spectrum disorder (ASD) and schizophrenia (SCZ). These two disorders share some overlap in their clinical presentation as well as convergence in their underlying genes and neurobiology. However, there are also clear points of dissociation in terms of phenotypes and putatively affected neural circuitry...
May 15, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28434495/dysfunction-of-the-cerebral-glucose-transporter-slc45a1-in-individuals-with-intellectual-disability-and-epilepsy
#6
Myriam Srour, Noriaki Shimokawa, Fadi F Hamdan, Christina Nassif, Chantal Poulin, Lihadh Al Gazali, Jill A Rosenfeld, Noriyuki Koibuchi, Guy A Rouleau, Aisha Al Shamsi, Jacques L Michaud
Glucose transport across the blood brain barrier and into neural cells is critical for normal cerebral physiologic function. Dysfunction of the cerebral glucose transporter GLUT1 (encoded by SLC2A1) is known to result in epilepsy, intellectual disability (ID), and movement disorder. Using whole-exome sequencing, we identified rare homozygous missense variants (c.526C>T [p.Arg176Trp] and c.629C>T [p.Ala210Val]) in SLC45A1, encoding another cerebral glucose transporter, in two consanguineous multiplex families with moderate to severe ID, epilepsy, and variable neuropsychiatric features...
April 18, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28433949/the-dimensional-structure-of-psychopathology-in-22q11-2-deletion-syndrome
#7
Maria Niarchou, Tyler M Moore, Sunny X Tang, Monica E Calkins, Donna M McDonald-McGuinn, Elaine H Zackai, Beverly S Emanuel, Ruben C Gur, Raquel E Gur
BACKGROUND: 22q11.2 Deletion Syndrome (22q11.2DS) is one of the strongest known genetic risk factors for developing schizophrenia. Individuals with 22q11.2DS have high rates of neurodevelopmental disorders in childhood, while in adulthood ∼25% develop schizophrenia. Similar to the general population, high rates of comorbidity are common in 22q11.2DS. Employing a dimensional approach where psychopathology is examined at the symptom-level as complementary to diagnostic categories in a population at such high genetic risk for schizophrenia can help gain a better understanding of how psychopathology is structured as well as its genetic underpinnings...
April 15, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28433857/the-relationship-between-joint-attention-and-theory-of-mind-in-neurotypical-adults
#8
Jordan A Shaw, Lauren K Bryant, Bertram F Malle, Daniel J Povinelli, John R Pruett
Joint attention (JA) is hypothesized to have a close relationship with developing theory of mind (ToM) capabilities. We tested the co-occurrence of ToM and JA in social interactions between adults with no reported history of psychiatric illness or neurodevelopmental disorders. Participants engaged in an experimental task that encouraged nonverbal communication, including JA, and also ToM activity. We adapted an in-lab variant of experience sampling methods (Bryant et al., 2013) to measure ToM during JA based on participants' subjective reports of their thoughts while performing the task...
April 20, 2017: Consciousness and Cognition
https://www.readbyqxmd.com/read/28433741/loss-of-the-neurodevelopmental-gene-zswim6-alters-striatal-morphology-and-motor-regulation
#9
David J Tischfield, Dave K Saraswat, Andrew Furash, Stephen C Fowler, Marc V Fuccillo, Stewart A Anderson
The zinc-finger SWIM domain-containing protein 6 (ZSWIM6) is a protein of unknown function that has been associated with schizophrenia and limited educational attainment by three independent genome-wide association studies. Additionally, a putatively causal point mutation in ZSWIM6 has been identified in several cases of acromelic frontonasal dysostosis with severe intellectual disability. Despite the growing number of studies implicating ZSWIM6 as an important regulator of brain development, its role in this process has never been examined...
April 19, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28433420/dna-methylation-program-in-normal-and-alcohol-induced-thinning-cortex
#10
Nail Can Öztürk, Marisol Resendiz, Hakan Öztürk, Feng C Zhou
While cerebral underdevelopment is a hallmark of fetal alcohol spectrum disorders (FASD), the mechanism(s) guiding the broad cortical neurodevelopmental deficits are not clear. DNA methylation is known to regulate early development and tissue specification through gene regulation. Here, we examined DNA methylation in the onset of alcohol-induced cortical thinning in a mouse model of FASD. C57BL/6 (B6) mice were administered a 4% alcohol (v/v) liquid diet from embryonic (E) days 7-16, and their embryos were harvested at E17, along with isocaloric liquid diet and lab chow controls...
February 20, 2017: Alcohol
https://www.readbyqxmd.com/read/28433088/parental-age-and-offspring-psychopathology-in-the-philadelphia-neurodevelopmental-cohort
#11
Alison K Merikangas, Monica E Calkins, Warren B Bilker, Tyler M Moore, Ruben C Gur, Raquel E Gur
OBJECTIVE: Increasing evidence implicates advanced paternal age at offspring birth in neuropsychiatric disorders. Advanced maternal age has also been associated with schizophrenia and other neurodevelopmental disorders, whereas younger maternal age has been linked with behavioral disorders. Few studies have considered the specificity of the associations with respect to comorbidity. In addition, most prior studies have been conducted in clinical samples or registries that may reflect more severe forms of psychopathology...
May 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28433087/paternal-age-alters-social-development-in-offspring
#12
Magdalena Janecka, Claire M A Haworth, Angelica Ronald, Eva Krapohl, Francesca Happé, Jonathan Mill, Leonard C Schalkwyk, Cathy Fernandes, Abraham Reichenberg, Frühling Rijsdijk
OBJECTIVE: Advanced paternal age (APA) at conception has been linked with autism and schizophrenia in offspring, neurodevelopmental disorders that affect social functioning. The current study explored the effects of paternal age on social development in the general population. METHOD: We used multilevel growth modeling to investigate APA effects on socioemotional development from early childhood until adolescence, as measured by the Strengths and Difficulties Questionnaire (SDQ) in the Twins Early Development Study (TEDS) sample...
May 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28432038/seeking-web-based-information-about-attention-deficit-hyperactivity-disorder-where-what-and-when
#13
Sara Rosenblum, Elad Yom-Tov
BACKGROUND: Attention Deficit Hyperactivity Disorder (ADHD) is a common neurodevelopmental disorder, prevalent among 2-10% of the population. OBJECTIVE: The objective of this study was to describe where, what, and when people search online for topics related to ADHD. METHODS: Data were collected from Microsoft's Bing search engine and from the community question and answer site, Yahoo Answers. The questions were analyzed based on keywords and using further statistical methods...
April 21, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28429448/white-matter-microstructure-variations-contribute-to-neurological-soft-signs-in-healthy-adults
#14
Dusan Hirjak, Philipp A Thomann, Robert C Wolf, Katharina M Kubera, Caspar Goch, Jan Hering, Klaus H Maier-Hein
OBJECTIVE: Neurological soft signs (NSS) are core features of psychiatric disorders with significant neurodevelopmental origin. However, it is unclear whether NSS correlates are associated with neuropathological processes underlying the disease or if they are confounded by medication. Given that NSS are also present in healthy persons (HP), investigating HP could reveal NSS correlates, which are not biased by disease-specific processes or drug treatment. Therefore, we used a combination of diffusion MRI analysis tools to provide a framework of specific white matter (WM) microstructure variations underlying NSS in HP...
April 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28429368/-aralar-agc1-deficiency-a-neurodevelopmental-disorder-with-severe-impairment-of-neuronal-mitochondrial-respiration-does-not-produce-a-primary-increase-in-brain-lactate
#15
Inés Juaristi, María L García-Martin, Tiago B Rodrigues, Jorgina Satrústegui, Irene Llorente-Folch, Beatriz Pardo
ARALAR/AGC1 (aspartate-glutamate mitochondrial carrier 1) is an important component of the NADH malate-aspartate shuttle (MAS). AGC1-deficiency is a rare disease causing global cerebral hypomyelination, developmental arrest, hypotonia, and epilepsy (OMIM ID #612949); the aralar-KO mouse recapitulates the major findings in humans. This study was aimed at understanding the impact of ARALAR-deficiency in brain lactate levels as a biomarker. We report that lactate was equally abundant in wild-type and aralar-KO mouse brain in vivo at PND 17...
April 21, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28428906/tbc1d24-mutations-in-a-sibship-with-multifocal-polymyoclonus
#16
Adeline Ngoh, Jose Bras, Rita Guerreiro, Amy McTague, Joanne Ng, Esther Meyer, W Kling Chong, Stewart Boyd, Linda MacLellan, Martin Kirkpatrick, Manju A Kurian
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus. CASE REPORT: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in TBC1D24, a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28428763/adhd-lifestyles-and-comorbidities-a-call-for-an-holistic-perspective-from-medical-to-societal-intervening-factors
#17
REVIEW
Simon Weissenberger, Radek Ptacek, Martina Klicperova-Baker, Andreja Erman, Katerina Schonova, Jiri Raboch, Michal Goetz
The review examines Attention Deficit Hyperactivity Disorder (ADHD in its Child and Adult form) and its various presentations (Hyperactive Impulsive, Inattentive, and Combined) with a particular focus on environmental (incl. social factors), lifestyles and comorbidities. It is argued that ADHD is best understood in a holistic and interactive context and a vast empirical literature is presented to illustrate the point: Environmental factors include stress in general as well as exposure to toxins (phthalates, bisphenol A)...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28427452/modeling-environmental-risk-factors-of-autism-in-mice-induces-ibd-related-gut-microbial-dysbiosis-and-hyperserotonemia
#18
Joon Seo Lim, Mi Young Lim, Yongbin Choi, GwangPyo Ko
Autism spectrum disorder (ASD) is a range of neurodevelopmental conditions that are sharply increasing in prevalence worldwide. Intriguingly, ASD is often accompanied by an array of systemic aberrations including (1) increased serotonin, (2) various modes of gastrointestinal disorders, and (3) inflammatory bowel disease (IBD), albeit the underlying cause for such comorbidities remains uncertain. Also, accumulating number of studies report that the gut microbial composition is significantly altered in children with ASD or patients with IBD...
April 20, 2017: Molecular Brain
https://www.readbyqxmd.com/read/28424384/minor-physical-anomalies-and-dermatoglyphic-signs-in-affective-disorders-a-systematic-review
#19
Hajnalka Berecz, Györgyi Csábi, Róbert Herold, Daniel Trixler, Judit Fekete, Tamás Tényi
The increased prevalence of minor physical anomalies (MPAs) and the abnormalities of dermatoglyphic patterns may be physical manifestations of neurodevelopmental disruption in affective disorders. This paper aims to review the current state of knowledge on the frequency of MPAs and dermatoglyphic abnormalities in mood disorders. A MEDLINE, PsychInfo and Web of Science search was carried out to collect all publications on the frequency of MPAs and on dermatoglyphic traits in bipolar disorder and unipolar depression...
2017: Psychiatria Hungarica: A Magyar Pszichiátriai Társaság Tudományos Folyóirata
https://www.readbyqxmd.com/read/28422445/transcriptional-profiling-of-shr-ncrl-prefrontal-cortex-reveals-hyperactivity-associated-genes-responsive-to-amphetamine-challenge
#20
Irene Joy I Dela Peña, Ike Dela Peña, June Bryan de la Peña, Hee Jin Kim, Aeree Sohn, Chan Young Shin, Doug Hyun Han, Bung-Nyun Kim, Jong Hoon Ryu, Jae Hoon Cheong
Several studies suggest a strong genetic component of attention-deficit/hyperactivity disorder (ADHD), a complex neurodevelopmental disorder characterized by inappropriate levels of hyperactivity, impulsivity, and inattention. Determining specific genetic risk variants for each symptom dimension of ADHD may aid in the identification of the biological risk factors of the disorder. In this study, we explored the potential genetic underpinnings of the hyperactive phenotype of ADHD. To this end, we examined differentially expressed genes (DEGs) in the prefrontal cortex (PFC) of SHR/NCrl, an animal model of ADHD, compared with its genetic control, the Wistar Kyoto (WKY/NCrl) rat and the Wistar rat, strain used to represent the "normal" heterogeneous population...
April 19, 2017: Genes, Brain, and Behavior
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