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https://www.readbyqxmd.com/read/28934215/tracing-the-temporal-stability-of-autism-spectrum-diagnosis-and-severity-as-measured-by-the-autism-diagnostic-observation-schedule-a-systematic-review-and-meta-analysis
#1
Łucja Bieleninik, Maj-Britt Posserud, Monika Geretsegger, Grace Thompson, Cochavit Elefant, Christian Gold
BACKGROUND: Exploring ways to improve the trajectory and symptoms of autism spectrum disorder is prevalent in research, but less is known about the natural prognosis of autism spectrum disorder and course of symptoms. The objective of this study was to examine the temporal stability of autism spectrum disorder and autism diagnosis, and the longitudinal trajectories of autism core symptom severity. We furthermore sought to identify possible predictors for change. METHODS: We searched PubMed, PsycInfo, EMBASE, Web of Science, Cochrane Library up to October 2015 for prospective cohort studies addressing the autism spectrum disorder/autism diagnostic stability, and prospective studies of intervention effects...
2017: PloS One
https://www.readbyqxmd.com/read/28934093/combined-prenatal-pesticide-exposure-and-folic-acid-intake-in-relation-to-autism-spectrum-disorder
#2
Rebecca J Schmidt, Vladimir Kogan, Janie F Shelton, Lora Delwiche, Robin L Hansen, Sally Ozonoff, Claudia C Ma, Erin C McCanlies, Deborah H Bennett, Irva Hertz-Picciotto, Daniel J Tancredi, Heather E Volk
BACKGROUND: Maternal folic acid (FA) protects against developmental toxicity from certain environmental chemicals. OBJECTIVE: We examined combined exposures to maternal FA and pesticides in relation to autism spectrum disorder (ASD). METHODS: Participants were California children born from 2000-2007 who were enrolled in the Childhood Autism Risks from Genetics and the Environment (CHARGE) case-control study at age 2-5 y, were clinically confirmed to have ASD (n=296) or typical development (n=220), and had information on maternal supplemental FA and pesticide exposures...
September 8, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28933930/autism-spectrum-disorder-among-us-children-2002-2010-socioeconomic-racial-and-ethnic-disparities
#3
Maureen S Durkin, Matthew J Maenner, Jon Baio, Deborah Christensen, Julie Daniels, Robert Fitzgerald, Pamela Imm, Li-Ching Lee, Laura A Schieve, Kim Van Naarden Braun, Martha S Wingate, Marshalyn Yeargin-Allsopp
OBJECTIVES: To describe the association between indicators of socioeconomic status (SES) and the prevalence of autism spectrum disorder (ASD) in the United States during the period 2002 to 2010, when overall ASD prevalence among children more than doubled, and to determine whether SES disparities account for ongoing racial and ethnic disparities in ASD prevalence. METHODS: We computed ASD prevalence and 95% confidence intervals (CIs) from population-based surveillance, census, and survey data...
September 21, 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/28933790/is-it-time-to-retire-fragile-x-testing-as-a-first-tier-test-for-developmental-delay-intellectual-disability-and-autism-spectrum-disorder
#4
Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, Arang Kim, Rebecca Signer, Michelle Fox, Naghmeh Dorrani, Andrea Hendershot, Rebecca Mardach, Robert Suddath, Katrina Dipple, Eric Vilain, Derek A Wong, Joshua L Deignan, Stephen D Cederbaum, Wayne W Grody, Julian A Martinez-Agosto
No abstract text is available yet for this article.
September 21, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28933363/the-spectrum-of-neurological-manifestations-associated-with-gaucher-disease
#5
REVIEW
Tamanna Roshan Lal, Ellen Sidransky
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations...
March 2, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28933218/effects-of-human-es-derived-neural-stem-cell-transplantation-and-kindling-in-a-rat-model-of-traumatic-brain-injury
#6
Stefania Beretta, Kelly M Cunningham, Daniel L Haus, Eric M Gold, Harvey Perez, Luci López-Velázquez, Brian J Cummings
Traumatic brain injury (TBI) is one of the leading causes of death and disability in the population worldwide, with a broad spectrum of symptoms and disabilities. Posttraumatic hyperexcitability is one of the most common neurological disorders that affect people after a head injury. A reliable animal model of posttraumatic hyperexcitability induced by TBI which allows one to test effective treatment strategies is yet to be developed. To address these issues, in the present study, we tested human embryonic stem cell-derived neural stem cell (NSC) transplantation in an animal model of posttraumatic hyperexcitability in which the brain injury was produced in one hemisphere of immunodeficient athymic nude rats by controlled cortical impact, and spontaneous seizures were produced by repeated electrical stimulation (kindling) in the contralateral hemisphere...
July 2017: Cell Transplantation
https://www.readbyqxmd.com/read/28932960/validation-of-the-repetitive-behavior-scale-revised-in-spanish-speakers-participants-with-autism-spectrum-disorder
#7
A E Martínez-González, J A Piqueras
Restricted and repetitive behavior (RRB) is one of the two key diagnostic features of autism spectrum disorder (ASD). DSM-5 highlights the importance of severity-based diagnostic modifiers assigned on the basis of intensity of needed supports. Therefore, there is a need for available measures that assess the severity of RRB. The repetitive behavior scale-revised (RBS-R) is probably the most used informant-based rating scale for the assessment of RRB and interests observed in ASD. The present study examined the psychometric properties of the Spanish version of the RBS-R in a sample of 233 participants with ASD, aged 3 to 63 years...
September 20, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#8
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28932599/longitudinal-study-of-sensory-features-in-children-with-autism-spectrum-disorder
#9
Lucia Perez Repetto, Emmanuelle Jasmin, Eric Fombonne, Erika Gisel, Mélanie Couture
BACKGROUND: Between 45 and 95% of children with Autism Spectrum Disorder (ASD) present sensory features that affect their daily functioning. However, the data in the scientific literature are not conclusive regarding the evolution of sensory features in children with ASD. The main objective of this study was to analyze the sensory features of children within the age of 3-4 (T1) when they received their ASD diagnosis and two years later (T2) when they started school. METHODS: We conducted a prospective cohort study to assess sensory features in 34 children with ASD over time...
2017: Autism Research and Treatment
https://www.readbyqxmd.com/read/28932379/testing-the-excitation-inhibition-imbalance-hypothesis-in-a-mouse-model-of-the-autism-spectrum-disorder-in-vivo-neurospectroscopy-and-molecular-evidence-for-regional-phenotypes
#10
Joana Gonçalves, Inês R Violante, José Sereno, Ricardo A Leitão, Ying Cai, Antero Abrunhosa, Ana Paula Silva, Alcino J Silva, Miguel Castelo-Branco
BACKGROUND: Excitation/inhibition (E/I) imbalance remains a widely discussed hypothesis in autism spectrum disorders (ASD). The presence of such an imbalance may potentially define a therapeutic target for the treatment of cognitive disabilities related to this pathology. Consequently, the study of monogenic disorders related to autism, such as neurofibromatosis type 1 (NF1), represents a promising approach to isolate mechanisms underlying ASD-related cognitive disabilities. However, the NF1 mouse model showed increased γ-aminobutyric acid (GABA) neurotransmission, whereas the human disease showed reduced cortical GABA levels...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28932189/delayed-mismatch-field-latencies-in-autism-spectrum-disorder-with-abnormal-auditory-sensitivity-a-magnetoencephalographic-study
#11
Junko Matsuzaki, Kuriko Kagitani-Shimono, Hisato Sugata, Ryuzo Hanaie, Fumiyo Nagatani, Tomoka Yamamoto, Masaya Tachibana, Koji Tominaga, Masayuki Hirata, Ikuko Mohri, Masako Taniike
Although abnormal auditory sensitivity is the most common sensory impairment associated with autism spectrum disorder (ASD), the neurophysiological mechanisms remain unknown. In previous studies, we reported that this abnormal sensitivity in patients with ASD is associated with delayed and prolonged responses in the auditory cortex. In the present study, we investigated alterations in residual M100 and MMFs in children with ASD who experience abnormal auditory sensitivity. We used magnetoencephalography (MEG) to measure MMF elicited by an auditory oddball paradigm (standard tones: 300 Hz, deviant tones: 700 Hz) in 20 boys with ASD (11 with abnormal auditory sensitivity: mean age, 9...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28932183/plant-polyphenols-and-exendin-4-prevent-hyperactivity-and-tnf-%C3%AE-release-in-lps-treated-in-vitro-neuron-astrocyte-microglial-networks
#12
Francesca Gullo, Michela Ceriani, Alessia D'Aloia, Enzo Wanke, Andrew Constanti, Barbara Costa, Marzia Lecchi
Increasing evidence supports a decisive role for neuroinflammation in the neurodegenerative process of several central nervous system (CNS) disorders. Microglia are essential mediators of neuroinflammation and can regulate a broad spectrum of cellular responses by releasing reactive oxygen intermediates, nitric oxide, proteases, excitatory amino acids, and cytokines. We have recently shown that also in ex-vivo cortical networks of neurons, astrocytes and microglia, an increased level of tumor necrosis factor-alpha (TNF-α) was detected a few hours after exposure to the bacterial endotoxin lipopolysaccharide (LPS)...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28931914/high-resolution-analysis-of-rare-copy-number-variants-in-patients-with-autism-spectrum-disorder-from-taiwan
#13
Chia-Hsiang Chen, Hsin-I Chen, Wei-Hsien Chien, Ling-Hui Li, Yu-Yu Wu, Yen-Nan Chiu, Wen-Che Tsai, Susan Shur-Fen Gau
Rare genomic copy number variations (CNVs) (frequency <1%) contribute a part to the genetic underpinnings of autism spectrum disorders (ASD). The study aimed to understand the scope of rare CNV in Taiwanese patients with ASD. We conducted a genome-wide CNV screening of 335 ASD patients (299 males, 36 females) from Taiwan using Affymetrix Genome-Wide Human SNP Array 6.0 and compared the incidence of rare CNV with that of 1093 control subjects (525 males, 568 females). We found a significantly increased global burden of rare CNVs in the ASD group compared to the controls as a whole or when the rare CNVs were classified by the size and types of CNV...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931838/cerebellar-anatomical-alterations-and-attention-to-eyes-in-autism
#14
Charles Laidi, Jennifer Boisgontier, M Mallar Chakravarty, Sevan Hotier, Marc-Antoine d'Albis, Jean-Franc Ois Mangin, Gabriel A Devenyi, Richard Delorme, Federico Bolognani, Christian Czech, Céline Bouquet, Elie Toledano, Manuel Bouvard, Doriane Gras, Julie Petit, Marina Mishchenko, Alexandru Gaman, Isabelle Scheid, Marion Leboyer, Tiziana Zalla, Josselin Houenou
The cerebellum is implicated in social cognition and is likely to be involved in the pathophysiology of autism spectrum disorder (ASD). The goal of our study was to explore cerebellar morphology in adults with ASD and its relationship to eye contact, as measured by fixation time allocated on the eye region using an eye-tracking device. Two-hundred ninety-four subjects with ASD and controls were included in our study and underwent a structural magnetic resonance imaging scan. Global segmentation and cortical parcellation of the cerebellum were performed...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931446/prevalence-estimates-of-mild-behavioral-impairment-in-a-population-based-sample-of-pre-dementia-states-and-cognitively-healthy-older-adults
#15
Moyra E Mortby, Zahinoor Ismail, Kaarin J Anstey
BACKGROUND: A dearth of population-based epidemiological research examines neuropsychiatric symptom (NPS) in sub-clinical populations across the spectrum from normal aging to mild cognitive impairment (MCI). The construct of mild behavioral impairment (MBI) describes the emergence of sustained and impactful NPS in advance of or in combination with MCI. This is the first epidemiological study to operationalize the recently published diagnostic criteria for MBI and determine prevalence estimates across the spectrum from cognitively normal to MCI...
September 21, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28931434/long-term-outcome-of-autistic-spectrum-disorder-a-retrospective-case-study-in-a-southern-italian-region
#16
Francesca Felicia Operto, Federica Martino, Annalisa Rinaldi, Angelo Cerracchio, Giovanni Salvati, Mariano Orza, Claudia Lembo, Gianvito Panzarino, Claudia Di Paolantonio, Alberto Verrotti, Giovanni Farello, Giangennaro Coppola
BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder, characterized by impaired social communication and restricted and repetitive behaviours, as well as associated features including intellectual disability and impaired sensorimotor function. Despite a growing interest in this devastating disorder for families and young parents, there are no certainties as regards its aetiology, although a significant genetic background is considered to be important. Since there is little information about the social adaptation and quality of life of patients with Autism Spectrum Disorder, we decided to study and evaluate the long-term outcome and quality of life in a sample of children, adolescent and young adults...
September 20, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28931385/internet-use-ehealth-literacy-and-attitudes-toward-computer-internet-among-people-with-schizophrenia-spectrum-disorders-a-cross-sectional-study-in-two-distant-european-regions
#17
Christina Athanasopoulou, Maritta Välimäki, Katerina Koutra, Eliisa Löttyniemi, Antonios Bertsias, Maria Basta, Alexandros N Vgontzas, Christos Lionis
BACKGROUND: Individuals with schizophrenia spectrum disorders use the Internet for general and health-related purposes. Their ability to find, understand, and apply the health information they acquire online in order to make appropriate health decisions - known as eHealth literacy - has never been investigated. The European agenda strives to limit health inequalities and enhance mental health literacy. Nevertheless, each European member state varies in levels of Internet use and online health information-seeking...
September 20, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28931339/limb-girdle-muscular-dystrophy-type-2i-two-chinese-families-and-a-review-in-asian-patients
#18
Dan-Ni Wang, Zhi-Qiang Wang, Yu-Qing Chen, Guo-Rong Xu, Min-Ting Lin, Ning Wang
BACKGROUND: Limb-girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive hereditary disorder caused by mutations in the fukutin-related protein (FKRP) gene. Although the features of the disorder in European patients have been summarized, Asian patients with LGMD2I have rarely been reported. Thus, the clinical differences in LGMD2I between Asian and European patients and the associated genetic changes remain unclear. METHODS: We reported detailed clinical data as well as results from muscle biopsy, muscle MRI and genetic analysis of the FKRP gene in two unrelated Chinese families with LGMD2I...
September 21, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28931307/autism-spectrum-disorder-screening-with-the-cbcl-1%C3%A2-5-findings-for-young-children-at-high-risk-for-autism-spectrum-disorder
#19
Leslie A Rescorla, Breanna M Winder-Patel, Sarah J Paterson, Juhi Pandey, Jason J Wolff, Robert T Schultz, Joseph Piven
The screening power of the CBCL/1½-5's Withdrawn and Diagnostic and Statistical Manual of Mental Disorders-Pervasive Developmental Problems (DSM-PDP) scales to identify children diagnosed with autism spectrum disorder at 24 months was tested in a longitudinal, familial high-risk study. Participants were 56 children at high risk for autism spectrum disorder due to an affected older sibling (high-risk group) and 26 low-risk children with a typically developing older sibling (low-risk group). At 24 months, 13 of the 56 high-risk children were diagnosed with autism spectrum disorder, whereas the other 43 were not...
September 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28931106/a-case-of-prethoracic-pain-radiating-upward-and-initiating-nervus-intermedius-neuralgia-and-migraine-headache-could-epicrania-fugax-pain-start-in-the-upper-body
#20
Yu Wang, Pei-Lin Kan, Yuan-Feng Tao, Xiao-Yan Li, Xiao-Juan Yang, Gui-Ling Liang
Epicrania fugax (EF) was recently classified as a primary headache in the Appendix of the International Classification of Headache Disorders, third edition (ICHD-III). It is characterized by a paroxysmal pain rapidly radiating forward or backward along a linear or zigzag trajectory on the surface of the head. This article reports a 76-year-old woman who newly developed a paroxysmal EF-type pain distributed not only in the territories of the trigeminal and occipital nerves, but also in the territories of the cervical and thoracic nerves...
September 20, 2017: Journal of Oral & Facial Pain and Headache
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