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Autistic spectrum disorder

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https://www.readbyqxmd.com/read/29343961/receiver-operating-characteristic-curve-analysis-of-the-child-behavior-checklist-and-teacher-s-report-form-for-assessing-autism-spectrum-disorder-in-preschool-aged-children
#1
Tiago S Bara, Antonio C Farias, Erico Pg Felden, Mara L Cordeiro
Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social, behavioral, and communication impairments with an estimated prevalence of 1 in 68 school-aged children. There is a need for objective and easily applicable instruments for early identification of autistic children to enable initiation of early interventions during a very sensitive period of brain development and, consequently, optimize prognosis. Here, we tested the utility of the Child Behavior Checklist (CBCL) and the Caregiver-Teacher's Report Form (C-TRF) scales for assessing ASD in Brazil, where ASD screening research is emergent...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29342448/generation-of-induced-pluripotent-stem-cell-line-cssi002-a-2851-from-a-patient-with-juvenile-huntington-disease
#2
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
#3
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/29330412/high-expression-of-endogenous-retroviruses-from-intrauterine-life-to-adulthood-in-two-mouse-models-of-autism-spectrum-disorders
#4
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
#5
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/29321841/reversed-gender-ratio-of-autism-spectrum-disorder-in-smith-magenis-syndrome
#6
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
#7
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
#8
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
#9
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/29305196/periconceptional-folate-deficiency-leads-to-autism-like-traits-in-wistar-rat-offspring
#10
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
#11
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
#12
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
#13
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/29288796/dha-mitigates-autistic-behaviors-accompanied-by-dopaminergic-change-in-a-gene-prenatal-stress-mouse-model
#14
Fumihiro Matsui, Patrick Hecht, Kanji Yoshimoto, Yoshihisa Watanabe, Masafumi Morimoto, Kevin Fritsche, Matthew Will, David Beversdorf
Autism Spectrum Disorder (ASD) is characterized by impairments in social interaction, social communication, and repetitive and stereotyped behaviors. Recent work has begun to explore gene x environmental interactions in the etiology of ASD. We previously reported that prenatal stress exposure in stress-susceptible heterozygous serotonin transporter (SERT) KO pregnant dams in a mouse model resulted in autism-like behavior in the offspring (SERT/S mice). The association between prenatal stress and ASD appears to be affected by maternal SERT genotype in clinical populations as well...
December 27, 2017: Neuroscience
https://www.readbyqxmd.com/read/29288087/the-tbr1-related-autistic-spectrum-disorder-phenotype-and-its-clinical-spectrum
#15
J H McDermott, D D D Study, J Clayton-Smith, T A Briggs
A diverse range of genetic aberrations can lead to Autistic Spectrum Disorder (ASD) and many of these have been identified via Next Generation Sequencing (NGS) as part of large scale consortium studies. ASD is a phenotypically variable disorder and detailed clinical descriptions are essential to appreciate genotype-phenotype relationships. In this report, we provide a comprehensive clinical description of a child with ASD in whom a TBR1 variant was identified. We review this case in the context of the current TBR1 literature and highlight the variable spectrum of disease associated with this gene...
December 26, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29287831/systemic-inflammation-in-asocial-btbr-t-tf-j-mice-predisposes-them-to-increased-psoriatic-inflammation
#16
Ahmed Nadeem, Sheikh F Ahmad, Ahmad M El-Sherbeeny, Naif O Al-Harbi, Saleh A Bakheet, Sabry M Attia
Autistic Spectrum disorder (ASD) is a neurobehavioral disorder characterized by defects in communication skills leading to restricted sociability. ASD has immense dysregulation in immune responses which is thought to affect neuronal system and thus behavior. ASD patients and BTBR T+ tf/J (BTBR) autistic mice have increased systemic inflammation due to dysfunction in innate and adaptive immune responses. Recent studies suggest that ASD patients are associated with several co-morbid autoimmune disorders including psoriasis...
December 26, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29282878/is-food-refusal-in-autistic-children-related-to-tas2r38-genotype
#17
Maria Pia Riccio, Chiara Franco, Rossella Negri, Roberta Ida Ferrentino, Roberta Maresca, Elisa D'alterio, Luigi Greco, Carmela Bravaccio
Several studies suggest that atypical eating behaviors, in particular food selectivity, are more frequent in children with autism spectrum disorder (ASD). A link between bitter taste perception, namely PROP/PTC sensitivity and food preferences is known in healthy children. The aim of this study is to investigate whether genetic variants of the TAS2R38 taste receptor responsible for different bitter sensitivity could affect foods preferences and consequently food refusal in ASD children. We recruited 43 children with ASD and 41 with normotypic development (TD) with or without food selectivity, aged between 2 and 11 years...
December 28, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29274201/itraq-based-proteomic-analysis-reveals-protein-profile-in-plasma-from-children-with-autism
#18
Liming Shen, Kaoyuan Zhang, Chengyun Feng, Youjiao Chen, Shuiming Li, Javed Iqbal, Liping Liao, Yuxi Zhao, Jian Zhai
PURPOSE: Autism is a childhood neurological disorder with poorly understood etiology and pathology. This study is designed to identify differentially expressed proteins which might serve as potential biomarkers for autism. EXPERIMENTAL DESIGN: We performed iTRAQ (isobaric tags for relative and absolute quantitation) analysis for normal and autistic children's plasma of the same age group. RESULTS: The results showed that 24 differentially expressed proteins were identified between autistic subjects and controls...
December 23, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/29248926/comprehension-of-narrow-focus-by-adolescents-in-the-autism-spectrum
#19
Osnat Segal, Dafna Kaplan, Smadar Patael, Liat Kishon-Rabin
OBJECTIVE: The study compared the performance of adolescents with autistic spectrum disorder (ASD) to that of age-matched peers with typical development (TD) and cognitive language-matched peers with TD on measures of identification and comprehension of "narrow focus." PARTICIPANTS: Forty-nine participants, 17 autistic, 17 TD peers matched for age and sex, and 15 TD children matched for expressive vocabulary participated in the study. METHOD: The Hebrew Narrow Focus Test (HNFT) was used...
2017: Folia Phoniatrica et Logopaedica
https://www.readbyqxmd.com/read/29247898/-i-m-a-normal-autistic-person-not-an-abnormal-neurotypical-autism-spectrum-disorder-diagnosis-as-biographical-illumination
#20
Catherine D Tan
Building on Michael Bury's "biographical disruption" and Kathy Charmaz's "loss of self," which describe the deteriorative impacts of chronic illness on perceptions of selfhood, I propose "biographical illumination"-a transformed conceptualization of self and identity that is facilitated by but extends beyond medical meaning, enriching personal biography and social relationships. The concept is perhaps most applicable to experiences with neurological and neurodevelopmental conditions in which brain difference and personhood are perceived to be closely intertwined...
January 2018: Social Science & Medicine
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