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https://www.readbyqxmd.com/read/28212519/early-calibration-of-the-hpa-axis-by-maternal-psychopathology
#1
Heidemarie Laurent
Given the central role of stress-responsive neurophysiology in mental and physical health, it is important to understand how particular patterns of stress responsivity may become entrained by the early caregiving environment. In this study we investigated links between maternal depression and anxiety symptom profiles and within-infant development of hypothalamic-pituitary-adrenal (HPA) axis responses from 6 to 18 months of life. Associations with infant cognitive and social-emotional development were also tested to gauge the adjustment implications of HPA response trajectories...
February 1, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28211987/10-year-old-female-with-intragenic-kansl1-mutation-no-kansl1-related-intellectual-disability-and-preserved-verbal-intelligence
#2
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#3
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28209604/birth-size-risk-factors-across-life-and-cognition-in-late-life-protocol-of-prospective-longitudinal-follow-up-of-the-mynah-mysore-studies-of-natal-effects-on-ageing-and-health-cohort
#4
Murali Krishna, G Mohan Kumar, S R Veena, G V Krishnaveni, Kalyanaraman Kumaran, Samuel Christaprasad Karat, Patsy Coakley, Clive Osmond, John R M Copeland, Giriraj Chandak, Dattatray Bhat, Mathew Varghese, Martin Prince, Caroline Fall
INTRODUCTION: For late-life neurocognitive disorders, as for other late-life chronic diseases, much recent interest has focused on the possible relevance of Developmental Origins of Health and Disease (DOHaD). Programming by undernutrition in utero, followed by overnutrition in adult life may lead to an increased risk, possibly mediated through cardiovascular and metabolic pathways. This study will specifically examine, if lower birth weight is associated with poorer cognitive functioning in late life in a south Indian population...
February 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/28208966/study-of-parental-perceptions-on-health-social-needs-of-children-with-neuro-developmental-disability-and-it-s-impact-on-the-family
#5
Nusrat Jahan Rafique Ansari, Ramchandra Keshav Dhongade, Preeti Sagar Lad, Ashwin Borade, Suvarna Yg, Vishal Yadav, Ashwini Mehetre, Rahul Kulkarni
INTRODUCTION: The term Neuro Developmental Disorder (NDD) is used for conditions caused by a dysfunction in any part of the brain or nervous system, resulting in physical and/or psychological symptoms as a child develops. Family of children with NDD face many problems. It is very important to find them and create awareness so that gaps in essential services and supports can be decreased. AIM: To explore parental perceptions on health & social needs of children with NDD, to understand the impact of disability on the families having children with disability, and to find out the parental perceptions on availability of services for children with NDD and its utilization by families...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28205604/selectively-bred-rats-provide-a-unique-model-of-vulnerability-to-ptsd-like-behavior-and-respond-differentially-to-fgf2-augmentation-early-in-life
#6
Katherine E Prater, Elyse L Aurbach, Hanna K Larcinese, Taylor N Smith, Cortney A Turner, Peter Blandino, Stanley J Watson, Stephen Maren, Huda Akil
Individuals respond differently to traumatic experiences including their propensity to develop post-traumatic stress disorder (PTSD). Understanding individual differences in PTSD vulnerability will allow the development of improved prevention and treatment options. Here, we characterized fear conditioning and extinction in rats selectively bred for differences in their locomotor response to a novel environment. Selectively bred high responder (bHR) and low responder (bLR) male rats are known to differ in their emotional reactivity on a range of measures of spontaneous anxiety- and depressive-like behaviors...
February 16, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#7
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28204923/language-deprivation-syndrome-a-possible-neurodevelopmental-disorder-with-sociocultural-origins
#8
Wyatte C Hall, Leonard L Levin, Melissa L Anderson
PURPOSE: There is a need to better understand the epidemiological relationship between language development and psychiatric symptomatology. Language development can be particularly impacted by social factors-as seen in the developmental choices made for deaf children, which can create language deprivation. A possible mental health syndrome may be present in deaf patients with severe language deprivation. METHODS: Electronic databases were searched to identify publications focusing on language development and mental health in the deaf population...
February 16, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28203249/autism-spectrum-disorder-detection-from-semi-structured-and-unstructured-medical-data
#9
Jianbo Yuan, Chester Holtz, Tristram Smith, Jiebo Luo
Autism spectrum disorder (ASD) is a developmental disorder that significantly impairs patients' ability to perform normal social interaction and communication. Moreover, the diagnosis procedure of ASD is highly time-consuming, labor-intensive, and requires extensive expertise. Although there exists no known cure for ASD, there is consensus among clinicians regarding the importance of early intervention for the recovery of ASD patients. Therefore, to benefit autism patients by enhancing their access to treatments such as early intervention, we aim to develop a robust machine learning-based system for autism detection by using Natural Language Processing techniques based on information extracted from medical forms of potential ASD patients...
December 2017: EURASIP Journal on Bioinformatics & Systems Biology
https://www.readbyqxmd.com/read/28202424/gnao1-associated-epileptic-encephalopathy-and-movement-disorders-c-607g-a-variant-represents-a-probable-mutation-hotspot-with-a-distinct-phenotype
#10
Ravindra Arya, Christine Spaeth, Donald L Gilbert, James L Leach, Katherine D Holland
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28198698/a-role-for-cerebellum-in-the-hereditary-dystonia-dyt1
#11
Rachel Fremont, Ambika Tewari, Chantal Angueyra, Kamran Khodakhah
DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. How these mutations cause dystonia remains unknown. Mouse models which have embryonically targeted torsinA have failed to recapitulate the dystonia seen in patients, possibly due to differential development compensation between rodents and humans. To address this issue, torsinA was acutely knocked down in select brain regions of adult mice using shRNAs. TorsinA knockdown in the cerebellum, but not in the basal ganglia, was sufficient to induce dystonia...
February 15, 2017: ELife
https://www.readbyqxmd.com/read/28198506/inhibition-of-mitochondrial-calcium-uptake-1-in-drosophila-neurons
#12
P G M'Angale, B E Staveley
The mitochondrial calcium uptake 1 (MICU1) is a regulatory subunit of the mitochondrial calcium uniporter that plays an important role in calcium sensing. It contains two EF-hand domains that are well conserved across diverse species from protozoa to plants and metazoans. The loss of MICU1 function in mammals is attributed to several neurological disorders that involve movement dysfunction. The CG4495 gene in Drosophila melanogaster was identified as a putative homolog of MICU1 in the HomoloGene database of the National Centre for Biotechnology Information (NCBI)...
February 8, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28197949/the-impact-of-next-generation-sequencing-on-the-diagnosis-and-treatment-of-epilepsy-in-paediatric-patients
#13
REVIEW
Davide Mei, Elena Parrini, Carla Marini, Renzo Guerrini
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring earlier and more accurate diagnosis in a subset of paediatric patients with epilepsy. The cumulative information emerging from NGS studies is rapidly changing our comprehension of the relations between early-onset severe epilepsy and the associated neurological impairment, progressively delineating specific entities previously gathered under the umbrella definition of epileptic encephalopathies, thereby influencing treatment choices and limiting the most aggressive drug regimens only to those conditions that are likely to actually benefit from them...
February 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28196854/hypothalamic-transcriptomic-alterations-in-male-and-female-california-mice-peromyscus-californicus-developmentally-exposed-to-bisphenol-a-or-ethinyl-estradiol
#14
Sarah A Johnson, William G Spollen, Lindsey K Manshack, Nathan J Bivens, Scott A Givan, Cheryl S Rosenfeld
Bisphenol A (BPA) is an endocrine-disrupting chemical (EDC) prevalent in many household items. Rodent models and human epidemiological studies have linked this chemical to neurobehavior impairments. In California mice, developmental exposure to BPA results in sociosexual disorders at adulthood, including communication and biparental care deficits, behaviors that are primarily regulated by the hypothalamus. Thus, we sought to examine the transcriptomic profile in this brain region of juvenile male and female California mice offspring exposed from periconception through lactation to BPA or ethinyl estradiol (EE, estrogen present in birth control pills and considered a positive estrogen control for BPA studies)...
February 2017: Physiological Reports
https://www.readbyqxmd.com/read/28196555/dohad-at-the-intersection-of-maternal-immune-activation-and-maternal-metabolic-stress-a-scoping-review
#15
J A Goldstein, S A Norris, D M Aronoff
The prenatal environment is now recognized as a key driver of non-communicable disease risk later in life. Within the developmental origins of health and disease (DOHaD) paradigm, studies are increasingly identifying links between maternal morbidity during pregnancy and disease later in life for offspring. Nutrient restriction, metabolic disorders during gestation, such as diabetes or obesity, and maternal immune activation provoked by infection have been linked to adverse health outcomes for offspring later in life...
February 15, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28195316/structural-hierarchy-of-autism-spectrum-disorder-symptoms-an-integrative-framework
#16
Hyunsik Kim, Cara M Keifer, Craig Rodriguez-Seijas, Nicholas R Eaton, Matthew D Lerner, Kenneth D Gadow
BACKGROUND: In an attempt to resolve questions regarding the symptom classification of autism spectrum disorder (ASD), previous research generally aimed to demonstrate superiority of one model over another. Rather than adjudicating which model may be optimal, we propose an alternative approach that integrates competing models using Goldberg's bass-ackwards method, providing a comprehensive understanding of the underlying symptom structure of ASD. METHODS: The study sample comprised 3,825 individuals, consecutive referrals to a university hospital developmental disabilities specialty clinic or a child psychiatry outpatient clinic...
February 14, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28195306/neural-oscillation-reveals-deficits-in-visuospatial-working-memory-in-children-with-developmental-coordination-disorder
#17
Chun-Hao Wang, Yu-Ting Tseng, Dang Liu, Chia-Liang Tsai
The electroencephalographic (EEG) oscillations associated with visuospatial working memory (VSWM) were examined in children with developmental coordination disorder (DCD; 10-11 years; N = 29) and typically developing (TD) children (10-11 years; N = 29). Behaviorally, DCD showed poorer VSWM than TD, which coincided with the diminished ability of DCD in modulating neural oscillations. Furthermore, prestimulus oscillatory alpha activity was correlated with VSWM performance. The results suggest that children with DCD might have a reduced ability to encode and recognize new information, and in particular have difficulty in maintaining task-relevant information, resulting in poorer VSWM...
February 14, 2017: Child Development
https://www.readbyqxmd.com/read/28194760/developmental-psychopathology-in-the-post-genomics-era-substantial-challenges-but-reasons-for-hope
#18
EDITORIAL
Jeffrey M Halperin
One only has to quickly look through the Table of Contents for this issue of JCPP to gain an appreciation of the ever-increasing influence of genetic research in the field of developmental psychopathology. Among the 13 articles in this issue that follow this editorial: two employ large family and/or twin studies to provide compelling behavioral genetic findings bolstering the importance of genes in the emergence of ADHD (Chen, Brikell, Lichtenstein, Serlachius, Kuja-Halkola, Sandin, and Larsson) and level of educational achievement in adolescents (Lewis, Asbury, and Plomin); one paper focuses on cortical development in patients with 22q11...
March 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28193763/neurologic-involvement-in-patients-with-atypical-chediak-higashi-disease
#19
Wendy J Introne, Wendy Westbroek, Catherine A Groden, Vikas Bhambhani, Gretchen A Golas, Eva H Baker, Tanya J Lehky, Joseph Snow, Shira G Ziegler, May Christine V Malicdan, David R Adams, Heidi M Dorward, Richard A Hess, Marjan Huizing, William A Gahl, Camilo Toro
OBJECTIVE: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study. METHODS: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing...
14, 2017: Neurology
https://www.readbyqxmd.com/read/28193691/optogenetic-examination-of-prefrontal-amygdala-synaptic-development
#20
Maithe Arruda-Carvalho, Wan-Chen Wu, Kirstie A Cummings, Roger L Clem
A brain network comprising the medial prefrontal cortex (mPFC) and amygdala plays important roles in developmentally-regulated cognitive and emotional processes. However, very little is known about the maturation of mPFC-amygdala circuitry. We conducted anatomical tracing of mPFC projections and optogenetic interrogation of their synaptic connections with neurons in the basolateral amygdala (BLA) at neonatal to adult developmental stages in mice. Results indicate that mPFC-BLA projections exhibit delayed emergence relative to other mPFC pathways and establish synaptic transmission with BLA excitatory and inhibitory neurons in late infancy, events which coincide with a massive increase in overall synaptic drive...
February 13, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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