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https://www.readbyqxmd.com/read/29342448/generation-of-induced-pluripotent-stem-cell-line-cssi002-a-2851-from-a-patient-with-juvenile-huntington-disease
#1
Jessica Rosati, Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Barbara Torres, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Ferdinando Squitieri, Angelo Luigi Vescovi
Huntington Disease (HD) is an autosomal dominant disorder characterized by motor, cognitive and behavioral features caused by a CAG expansion in the HTT gene beyond 35 repeats. The juvenile form (JHD) may begin before the age of 20years and is associated with expanded alleles as long as 60 or more CAG repeats. In this study, induced pluripotent stem cells were generated from skin fibroblasts of a 8-year-old child carrying a large size mutation of 84 CAG repeats in the HTT gene. HD appeared at age 3 with mixed psychiatric (i...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29338670/vitamin-a-and-vitamin-d-deficiencies-exacerbate-symptoms-in-children-with-autism-spectrum-disorders
#2
Min Guo, Jiang Zhu, Ting Yang, Xi Lai, Yuxi Lei, Jie Chen, Tingyu Li
OBJECTIVES: This study was designed to investigate the vitamin A (VA) and vitamin D (VD) levels in children with autism spectrum disorders (ASD) and to determine whether co-deficiency of VA and VD exacerbates clinical symptoms in autistic children. METHODS: The Autism Behavior Checklist, Childhood Autism Rating Scale (CARS), and Social Responsiveness Scale (SRS) were used to assess the symptoms of 332 children diagnosed as ASD. And the Gesell Developmental Scale (GDS) was used to evaluate neurodevelopment in children with ASD...
January 16, 2018: Nutritional Neuroscience
https://www.readbyqxmd.com/read/29337050/impairments-in-social-novelty-recognition-and-spatial-memory-in-mice-with-conditional-deletion-of-scn1a-in-parvalbumin-expressing-cells
#3
Tetsuya Tatsukawa, Ikuo Ogiwara, Emi Mazaki, Atsushi Shimohata, Kazuhiro Yamakawa
Loss of function mutations in the SCN1A gene, which encodes the voltage-gated sodium channel Nav1.1, have been described in the majority of Dravet syndrome patients presenting with epileptic seizures, hyperactivity, autistic traits, and cognitive decline. We previously reported predominant Nav1.1 expression in parvalbumin-expressing (PV+) inhibitory neurons in juvenile mouse brain and observed epileptic seizures in mice with selective deletion of Scn1a in PV+ cells mediated by PV-Cre transgene expression (Scn1afl/+/PV-Cre-TG)...
January 11, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29336738/concomitant-fecal-impaction-and-perforated-appendicitis-in-an-autistic-patient
#4
Magarya S Waitara, Mary Stuever, Daniel Eiferman, Steven Steinberg
No abstract text is available yet for this article.
December 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/29330474/a-de-novo-foxp1-truncating-mutation-in-a-patient-originally-diagnosed-as-c-syndrome
#5
Roser Urreizti, Sarah Damanti, Carla Esteve, Héctor Franco-Valls, Laura Castilla-Vallmanya, Raul Tonda, Bru Cormand, Lluïsa Vilageliu, John M Opitz, Giovanni Neri, Daniel Grinberg, Susana Balcells
De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies and ID. Several different chromosome deletions and and point mutations in distinct genes have been associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers from syndromic intellectual disability with trigonocephaly...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330412/high-expression-of-endogenous-retroviruses-from-intrauterine-life-to-adulthood-in-two-mouse-models-of-autism-spectrum-disorders
#6
Chiara Cipriani, Laura Ricceri, Claudia Matteucci, Alessia De Felice, Anna Maria Tartaglione, Ayele Argaw-Denboba, Francesca Pica, Sandro Grelli, Gemma Calamandrei, Paola Sinibaldi Vallebona, Emanuela Balestrieri
Retroelements, such as Human Endogenous Retroviruses (HERVs), have been implicated in many complex diseases, including neurological and neuropsychiatric disorders. Previously, we demonstrated a distinctive expression profile of specific HERV families in peripheral blood mononuclear cells from Autistic Spectrum Disorders (ASD) patients, suggesting their involvement in ASD. Here we used two distinct ASD mouse models: inbred BTBR T+tf/J mice and CD-1 outbred mice prenatally exposed to valproic acid. Whole embryos, blood and brain samples from the offspring were collected at different ages and the expression of several ERV families (ETnI, ETnII-α, ETnII-β, ETnII-γ, MusD and IAP), proinflammatory cytokines (IL-1β, IL-6 and TNF-α) and Toll-like receptors (TLR3 and TLR4) was assessed...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29327281/effect-of-early-natal-supplementation-of-paracetamol-on-attenuation-of-exotoxin-endotoxin-induced-pyrexia-and-precipitation-of-autistic-like-features-in-albino-rats
#7
Abdulaziz S Saeedan, Indu Singh, Mohd Nazam Ansari, Manjari Singh, Jitendra K Rawat, Uma Devi, Swetlana Gautam, Rajnish K Yadav, Gaurav Kaithwas
The present study was aimed to test the hypothesis that paracetamol (PCM) can precipitate autistic like features when used to counteract vaccine-induced fever using experimental rat pups. The pups were treated with measles mumps rubella (MMR) vaccine, diphtheria tetanus and pertussis (DPT) vaccines and lipopolysaccharide (LPS) with subsequent PCM treatment. The pups were evaluated for postnatal growth (weight gain, eye opening) and behavior alterations (swimming performance, olfactory discrimination, negative geotaxis, nociception, and locomotor activity) by performing battery of neurobehavioral test...
January 11, 2018: Inflammopharmacology
https://www.readbyqxmd.com/read/29326522/fragile-x-syndrome-a-rare-case-report-with-unusual-oral-features
#8
Prayas Ray, Arpanna Singh, Jayanta Kumar Dash, Prasanna Kumar Sahoo, Jitendra Kumar Dash
Fragile X syndrome (FXS) is a rare variant of special health-care need demonstrating delayed developmental milestones and associated with intellectual and emotional disabilities ranging from learning problem to mental retardation. The syndrome is usually not diagnosed until 8-9 years of age since the clinical manifestations of the syndrome are greatly attenuated in childhood. The physical characteristics such as facial features, hyperactivity, attention deficit, autistic behavior, and macroorchidism are quite evident in younger age group...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29324255/aberrant-autistic-and-food-related-behaviors-in-adults-with-prader-willi-syndrome-the-comparison-between-young-adults-and-adults
#9
Hiroyuki Ogata, Hiroshi Ihara, Masao Gito, Masayuki Sayama, Nobuyuki Murakami, Tadayuki Ayabe, Yuji Oto, Toshiro Nagai, Kazutaka Shimoda
This study aims to explore the differences of age as well as genotype in regards to the severity of behavioral symptoms in Prader-Willi syndrome (PWS), with emphasis on the comparison between youngadults and adults.The Food Related Problem Questionnaire (FRPQ), the Aberrant Behavior Checklist Japanese Version (ABC-J), and the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) were administered to 46 PWS patients, including 33 young adults (ages 18-28) and 13 adults(ages 30-45). To examine the differences between young adults and adults, Mann-Whitney U tests were conducted...
January 8, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29322246/de-novo-variants-in-setd1b-are-associated-with-intellectual-disability-epilepsy-and-autism
#10
Takuya Hiraide, Mitsuko Nakashima, Kaori Yamoto, Tokiko Fukuda, Mitsuhiro Kato, Hiroko Ikeda, Yoko Sugie, Kazushi Aoto, Tadashi Kaname, Kazuhiko Nakabayashi, Tsutomu Ogata, Naomichi Matsumoto, Hirotomo Saitsu
SETD1B (SET domain containing 1B) is a component of SET1 histone methyltransferase complex, which mediates the methylation of histone H3 on lysine 4 (H3K4). Here, we describe two unrelated individuals with de novo variants in SETD1B identified by trio-based whole exome sequencing: c.5524C>T, p.(Arg1842Trp) and c.5575C>T, p.(Arg1859Cy). The two missense variants occurred at evolutionarily conserved amino acids and are located within the SET domain, which plays a pivotal role in catalyzing histone methylation...
January 10, 2018: Human Genetics
https://www.readbyqxmd.com/read/29321841/reversed-gender-ratio-of-autism-spectrum-disorder-in-smith-magenis-syndrome
#11
Heidi Elisabeth Nag, Ann Nordgren, Britt-Marie Anderlid, Terje Nærland
Background: A substantial amount of research shows a higher rate of autistic type of problems in males compared to females. The 4:1 male to female ratio is one of the most consistent findings in autism spectrum disorder (ASD).Lately, the interest in studying ASD in genetic disorders has increased, and research has shown a higher prevalence of ASD in some genetic disorders than in the general population.Smith-Magenis syndrome (SMS) is a rare and complex genetic syndrome caused by an interstitial deletion of chromosome 17p11...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29317216/multisensory-temporal-binding-window-in-autism-spectrum-disorders-and-schizophrenia-spectrum-disorders-a-systematic-review-and-meta-analysis
#12
REVIEW
Han-Yu Zhou, Xin-Lu Cai, Michael Weigl, Peter Bang, Eric F C Cheung, Raymond C K Chan
Multisensory temporal integration could be compromised in both autism spectrum disorders (ASD) and schizophrenia spectrum disorders (SSD) and may play an important role in perceptual and cognitive impairment in these two disorders. This review aimed to quantitatively compare the sensory temporal acuity between healthy controls and the two clinical groups (ASD and SSD). Impairment of sensory temporal integration was robust and comparable in both patients with SSD (Hedges' g=0.91, 95%CI[0.62-1.19]; Z=6.21, p<...
January 6, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29309878/altered-brain-cholesterol-isoprenoid-metabolism-in-a-rat-model-of-autism-spectrum-disorders
#13
Veronica Cartocci, Martina Catallo, Massimo Tempestilli, Marco Segatto, Frank W Pfrieger, Maria Rosanna Bronzuoli, Caterina Scuderi, Michela Servadio, Viviana Trezza, Valentina Pallottini
Autism spectrum disorders (ASDs) present a wide range of symptoms characterized by altered sociability, compromised communication and stereotypic/repetitive behaviors. These symptoms are caused by developmental changes, but the mechanisms remain largely unknown. Some lines of evidence suggest an impairment of the cholesterol/isoprenoid metabolism in the brain as possible cause, but systematic analyses in rodent models of ASDs are lacking. Prenatal exposure to the antiepileptic drug valproate (VPA) is a risk factor for ASDs in humans and generates a well-established model for the disease in rodents...
January 5, 2018: Neuroscience
https://www.readbyqxmd.com/read/29306521/what-can-autism-teach-us-about-the-role-of-sensorimotor-systems-in-higher-cognition-new-clues-from-studies-on-language-action-semantics-and-abstract-emotional-concept-processing
#14
REVIEW
Rachel L Moseley, Friedemann Pulvermüller
Within the neurocognitive literature there is much debate about the role of the motor system in language, social communication and conceptual processing. We suggest, here, that autism spectrum conditions (ASC) may afford an excellent test case for investigating and evaluating contemporary neurocognitive models, most notably a neurobiological theory of action perception integration where widely-distributed cell assemblies linking neurons in action and perceptual brain regions act as the building blocks of many higher cognitive functions...
December 7, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29305346/a-de-novo-nonsense-mutation-in-asxl3-shared-by-siblings-with-bainbridge-ropers-syndrome
#15
Daniel C Koboldt, Theresa Mihalic Mosher, Benjamin J Kelly, Emily Sites, Dennis Bartholomew, Scott E Hickey, Kim McBride, Richard K Wilson, Peter White
Two sisters (ages 16 y. and 15 y.) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy, and have no other children. Oligo array, fragile X testing, and numerous single-gene tests were negative. All four family members underwent research exome sequencing, which revealed a heterozygous nonsense mutation in ASXL3 (p.R1036X) that segregated with disease. Exome data and independent Sanger sequencing confirmed that the variant is de novo, suggesting possible germline mosaicism in one parent...
January 5, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29305196/periconceptional-folate-deficiency-leads-to-autism-like-traits-in-wistar-rat-offspring
#16
Stéphanie Degroote, Darel Hunting, Larissa Takser
BACKGROUND: Folates in their role as key one carbon donors, are essential for two major pathways: the synthesis of DNA and RNA precursors and DNA methylation. A growing body of evidence from epidemiological studies indicates a possible association between nutritional and functional deficiency in folates and Autism Spectrum Disorders (ASD). However, there are no available behavioral animal studies on periconceptional one‑carbon donor deficiency during gestation and the autistic phenotype...
January 2, 2018: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/29302750/decreased-plasma-agmatine-levels-in-autistic-subjects
#17
Erman Esnafoglu, İlhan İrende
Agmatine is a polyamine endogenously synthesized from arginine and is considered to be a new neurotransmitter. Agmatine has been implicated in the pathophysiology of several diseases such as anxiety disorder, depression, and schizophrenia. Agmatine also possesses anticonvulsant, neuroprotective, antiapoptotic, antioxidant, anxiolytic, and antidepressant effects. Furthermore, agmatine inhibits the nitric oxide synthase enzyme and exerts antagonist effects on NMDA, alpha-2, and imidazoline receptors. Considering these characteristics, the present study investigated whether agmatine plays a role in the pathogenesis of autistic spectrum disorders (ASDs)...
January 4, 2018: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29296085/epilepsy-in-patients-with-autism-links-risks-and-treatment-challenges
#18
REVIEW
Frank Mc Besag
Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more common in people with autism with reported rates of approximately 20%. However, these figures are likely to be affected by the current broader criteria for autism spectrum disorder (ASD), which have contributed to an increased prevalence of autism, with the result that the rate for ASD in epilepsy is likely to be higher and the figure for epilepsy in ASD is likely to be lower. Some evidence suggests that there are two peaks of epilepsy onset in autism, in infancy and adolescence...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29295738/psychiatry-in-a-dish-stem-cells-and-brain-organoids-modeling-autism-spectrum-disorders
#19
REVIEW
Mirolyba Ilieva, Åsa Fex Svenningsen, Morten Thorsen, Tanja Maria Michel
Autism spectrum disorders are a group of pervasive neurodevelopmental conditions with heterogeneous etiology, characterized by deficits in social cognition, communication, and behavioral flexibility. Despite an increasing scientific effort to find the pathophysiological explanations for the disease, the neurobiological links remain unclear. A large amount of evidence suggests that pathological processes taking place in early embryonic neurodevelopment might be responsible for later manifestation of autistic symptoms...
November 16, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29289955/association-between-body-mass-index-and-dental-caries-among-special-care-female-children-in-makkah-city
#20
Nisreen Adnan Ashour, Amal Adnan Ashour, Sakeena Basha
BACKGROUND: Dental caries and obesity are multifactorial diseases with diet being a common contributory factor. OBJECTIVE: The main purpose of the present study was to investigate the association between dental caries and obesity among special care female school children in Makkah City, Saudi Arabia. DESIGN: Analytical cross-sectional study. SETTING: Special schools in Makkah City. STUDY POPULATION AND METHODS: Schools were chosen by lottery and female children were ran...
December 31, 2017: Annals of Saudi Medicine
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