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https://www.readbyqxmd.com/read/28101829/autism-spectrum-disorders%C3%A2-diagnosis-and-management
#1
REVIEW
Sharmila Banerjee Mukherjee
Autism Spectrum Disorder (ASD) is a neuro-developmental disorder commonly seen in children. It is characterized by age inappropriate, impaired social communication and the presence of stereotypic behavior. This disorder is hypothesized to result from cerebral dysfunction arising from a complex interaction between genetic, epigenetic and environmental factors. ASD should be suspected in children failing ASD specific screening tests, in the presence of red flags in social, language and/or play domains, in children with developmental or language delay, abnormal behavior, poor school performance or in those who are at high risk...
January 19, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28095705/what-s-the-story-a-computational-analysis-of-narrative-competence-in-autism
#2
Michelle Lee, Gary E Martin, Abigail Hogan, Deanna Hano, Peter C Gordon, Molly Losh
Individuals with autism spectrum disorder demonstrate narrative (i.e. storytelling) difficulties which can significantly impact their ability to form and maintain social relationships. However, existing research has not comprehensively documented these impairments in more open-ended, emotionally evocative situations common to daily interactions. Computational linguistic measures offer a promising complement to traditional hand-coding methods of narrative analysis and in this study were applied together with hand coding of narratives elicited with emotionally salient scenes from the Thematic Apperception Test...
January 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28094463/network-over-connectivity-differentiates-autism-spectrum-disorder-from-other-developmental-disorders-in-toddlers-a-diffusion-mri-study
#3
E Conti, J Mitra, S Calderoni, K Pannek, K K Shen, A Pagnozzi, S Rose, S Mazzotti, D Scelfo, M Tosetti, F Muratori, G Cioni, A Guzzetta
Advanced connectivity studies in toddlers with Autism Spectrum Disorder (ASD) are increasing and consistently reporting a disruption of brain connectivity. However, most of these studies compare ASD and typically developing subjects, thus providing little information on the specificity of the abnormalities detected in comparison with other developmental disorders (other-DD). We recruited subjects aged below 36 months who received a clinical diagnosis of Neurodevelopmental Disorder (32 ASD and 16 other-DD including intellectual disability and language disorder) according to DSM-IV TR...
January 17, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28089135/phenotypic-continuum-between-autism-and-schizophrenia-evidence-from-the-movie-for-the-assessment-of-social-cognition-masc
#4
Gilles Martinez, Charlotte Alexandre, Célia Mam-Lam-Fook, Narjes Bendjemaa, Raphaël Gaillard, Patricia Garel, Isabel Dziobek, Isabelle Amado, Marie-Odile Krebs
Schizophrenic (SCZ) and autism (ASD) spectrum disorders share several features including social cognition impairments. In SCZ, the link between symptomatic dimensions and social cognition deficits remains unclear. The Movie for the Assessment of Social Cognition (MASC) test, available in several languages including English, investigates mental state attribution capabilities in complex interpersonal situations. After its translation into French, we used MASC to direct compare social cognition in 36 young participants with SCZ to 19 with ASD and 20 healthy controls (HC) matched for gender, age (18-25y...
January 11, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28077731/%C3%AF-3-fatty-acid-supplementation-does-not-affect-autism-spectrum-disorder-in-children-a-systematic-review-and-meta-analysis
#5
Andrea Horvath, Jan Łukasik, Hania Szajewska
BACKGROUND: Effective treatments for the core symptoms of autism spectrum disorder (ASD) are still lacking. OBJECTIVE: We aimed to update the data on the effectiveness of ω-3 (n-3) fatty acid (FA) supplementation as a treatment for ASD. METHODS: The Cochrane Library, MEDLINE, and EMBASE databases were systematically searched up until August 2016, with no language restrictions for randomized controlled trials (RCTs) comparing ω-3 FA supplementation with placebo or with no supplementation...
January 11, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28075089/autism-spectrum-disorder-primary-care-principles
#6
Kristian E Sanchack, Craig A Thomas
Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills...
December 15, 2016: American Family Physician
https://www.readbyqxmd.com/read/28074353/language-skills-of-males-with-fragile-x-syndrome-or-nonsyndromic-autism-spectrum-disorder
#7
Angela John Thurman, Andrea McDuffie, Randi J Hagerman, Cynde K Josol, Leonard Abbeduto
Despite the similarities observed between the fragile X syndrome (FXS) and autism spectrum disorder (ASD) phenotypes, few studies have compared their behavioral profiles outside of ASD symptomatology. In the present study, we sought to compare lexical and grammatical abilities in these two conditions. Comparisons of language abilities in both of these conditions are particularly interesting because both conditions are characterized by difficulties navigating social interactions. Results suggest that although both FXS and ASD are associated with language difficulties, there are important differences between the two conditions in terms of the language profiles observed and the factors influencing language when considering children of similar developmental levels...
January 10, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28070788/developmental-markers-of-genetic-liability-to-autism-in-parents-a-longitudinal-multigenerational-study
#8
Molly Losh, Gary E Martin, Michelle Lee, Jessica Klusek, John Sideris, Sheila Barron, Thomas Wassink
Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents' childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents' childhood records in the domains of language, reading, and math were studied from grades K-12...
January 9, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28065824/variable-white-matter-atrophy-and-intellectual-development-in-a-family-with-x-linked-creatine-transporter-deficiency-despite-genotypic-homogeneity
#9
Nicole Heussinger, Marc Saake, Angelika Mennecke, Helmuth-Günther Dörr, Regina Trollmann
BACKGROUND: The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. The clinical phenotype ranges from mild to severe intellectual disability, epilepsy, short stature, poor language skills, and autism spectrum disorders. The objective of this study was to investigate phenotypic variability in the context of genotype, cerebral creatine concentration, and volumetric analysis in a family with CRTD...
October 17, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28062515/joint-attention-and-brain-functional-connectivity-in-infants-and-toddlers
#10
Adam T Eggebrecht, Jed T Elison, Eric Feczko, Alexandre Todorov, Jason J Wolff, Sridhar Kandala, Chloe M Adams, Abraham Z Snyder, John D Lewis, Annette M Estes, Lonnie Zwaigenbaum, Kelly N Botteron, Robert C McKinstry, John N Constantino, Alan Evans, Heather C Hazlett, Stephen Dager, Sarah J Paterson, Robert T Schultz, Martin A Styner, Guido Gerig, Samir Das, Penelope Kostopoulos, Bradley L Schlaggar, Steven E Petersen, Joseph Piven, John R Pruett
Initiating joint attention (IJA), the behavioral instigation of coordinated focus of 2 people on an object, emerges over the first 2 years of life and supports social-communicative functioning related to the healthy development of aspects of language, empathy, and theory of mind. Deficits in IJA provide strong early indicators for autism spectrum disorder, and therapies targeting joint attention have shown tremendous promise. However, the brain systems underlying IJA in early childhood are poorly understood, due in part to significant methodological challenges in imaging localized brain function that supports social behaviors during the first 2 years of life...
January 6, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28060873/assessment-of-anterior-cingulate-cortex-acc-and-left-cerebellar-metabolism-in-asperger-s-syndrome-with-proton-magnetic-resonance-spectroscopy-mrs
#11
Aya Goji, Hiromichi Ito, Kenji Mori, Masafumi Harada, Sonoka Hisaoka, Yoshihiro Toda, Tatsuo Mori, Yoko Abe, Masahito Miyazaki, Shoji Kagami
PURPOSE: Proton magnetic resonance spectroscopy (1H MRS) is a noninvasive neuroimaging method to quantify biochemical metabolites in vivo and it can serve as a powerful tool to monitor neurobiochemical profiles in the brain. Asperger's syndrome (AS) is a type of autism spectrum disorder, which is characterized by impaired social skills and restrictive, repetitive patterns of interest and activities, while intellectual levels and language skills are relatively preserved. Despite clinical aspects have been well-characterized, neurometabolic profiling in the brain of AS remains to be clear...
2017: PloS One
https://www.readbyqxmd.com/read/28059555/synchrony-detection-of-linguistic-stimuli-in-the-presence-of-faces-neuropsychological-implications-for-language-development-in-asd
#12
Elena Patten, Jeffrey D Labban, Devin M Casenhiser, Catherine L Cotton
Children with autism spectrum disorders (ASD) may be impaired in their ability to detect audiovisual synchrony and their ability may be influenced by the nature of the stimuli. We investigated the possibility that synchrony detection is disrupted by the presence of human faces by testing children with ASD using a preferential looking language-based paradigm. Children with low language abilities were significantly worse at detecting synchrony when the stimuli include an unobscured face than when the face was obscured...
January 6, 2017: Developmental Neuropsychology
https://www.readbyqxmd.com/read/28025777/brain-development-and-akt-signaling-the-crossroads-of-signaling-pathway-and-neurodevelopmental-diseases
#13
REVIEW
Long Wang, Kai Zhou, Zhi Fu, Di Yu, Hesuyuan Huang, Xiaodong Zang, Xuming Mo
Neurodevelopmental biology, coupled with the application of advanced histological, imaging, molecular, cellular, biochemical, and genetic approaches, has provided new insights into these intricate genetic, cellular, and molecular events. During telencephalic development, specific neural progenitor cells (NPCs) proliferate, differentiate into numerous cell types, migrate to their apposite positions, and form an integrated circuitry. Critical disturbance to this dynamic process via genetic and environmental risk can cause neurological disorders and disability...
December 26, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28013441/pragmatic-competency-and-obsessive-compulsive-disorder-a-comparative-assessment-with-normal-controls
#14
Shima Ghahari, Hamidreza Hassani, Maryam Purmofrad
Unlike such cognitive impairments as autism and schizophrenia, the speech pattern in obsessive-compulsive disorder (OCD) has largely remained underrepresented. We examined the pragmatic competence of OCD-affected individuals under two variant modes: pragmatic recognition and pragmatic production. In the recognition phase, the informants completed a discourse completion test around two speech acts of request and apology (20 high power distance situations). The production phase was carried out through an interview during which the informants' communication behaviors were rated on the basis of the Orion's pragmatic language skills checklist (OPLS) subscales...
December 24, 2016: Journal of Psycholinguistic Research
https://www.readbyqxmd.com/read/28004222/auditory-preference-of-children-with-autism-spectrum-disorders
#15
Lynn R Gilbertson, Robert A Lutfi, Susan Ellis Weismer
Research on children with autism spectrum disorders suggests differences from neurotypical children in the preference for 'social' versus 'nonsocial' sounds. Conclusions have been based largely on the use of head-turn methodology which has various limitations as a means of establishing auditory preference. In the present study, preference was assessed by measuring the frequency with which children pressed a button to hear different sounds using an interactive toy. Contrary to prior results, both groups displayed a strong preference for the highly social sounds...
December 21, 2016: Cognitive Processing
https://www.readbyqxmd.com/read/27998262/neurocognitive-considerations-when-assessing-theory-of-mind-in-autism-spectrum-disorder
#16
Katie Hamilton, Michelle Hoogenhout, Susan Malcolm-Smith
Autism Spectrum Disorder (ASD) is characterised by poor social competence; and since Theory of Mind (ToM) is a building block for social-communicative skills and successful social integration, these skills are important to assess when preparing and monitoring educational and therapeutic plans. ToM is a complex skill requiring the ability to form mental concepts, to represent complex constructs verbally, to inhibit some mental states in favour of others, and to consider and compare multiple perspectives. It is critical to consider cognitive influences on the ability to develop and convey ToM skills to ensure that deficits in other cognitive domains do not falsely present as ToM deficits...
October 2016: Journal of Child and Adolescent Mental Health
https://www.readbyqxmd.com/read/27982253/comprehension-of-ambiguity-for-children-with-specific-language-impairment-and-autism-spectrum-disorder
#17
Mariana Katsumi Ishihara, Ana Carina Tamanaha, Jacy Perissinoto
Purpose: To verify and compare the performance of children and adolescents with Specific Language Impairment (SLI) and Autism Spectrum Disorder (ASD) using a formal, standardized test that assesses language competence, more specifically comprehension of ambiguity. Methods: The sample comprised 19 individuals aged 6 to 14 years, of both genders, divided into two groups: ASD Group (9) and SLI Group (10). Participants were assessed using the Test of Language Competence - TLC; Ambiguous Sentences subtest (Wiig, Secord, 1989)...
November 2016: CoDAS
https://www.readbyqxmd.com/read/27956748/association-of-rare-missense-variants-in-the-second-intracellular-loop-of-nav1-7-sodium-channels-with-familial-autism
#18
M Rubinstein, A Patowary, I B Stanaway, E McCord, R R Nesbitt, M Archer, T Scheuer, D Nickerson, W H Raskind, E M Wijsman, R Bernier, W A Catterall, Z Brkanac
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder often accompanied by intellectual disability, language impairment and medical co-morbidities. The heritability of autism is high and multiple genes have been implicated as causal. However, most of these genes have been identified in de novo cases. To further the understanding of familial autism, we performed whole-exome sequencing on five families in which second- and third-degree relatives were affected. By focusing on novel and protein-altering variants, we identified a small set of candidate genes...
December 13, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27918841/community-effectiveness-rct-of-a-comprehensive-psychosocial-treatment-for-high-functioning-children-with-asd
#19
Marcus L Thomeer, Christopher Lopata, James P Donnelly, Adam Booth, Andrew Shanahan, Veronica Federiconi, Christin A McDonald, Jonathan D Rodgers
This community effectiveness randomized clinical trial examined the feasibility and effectiveness of a comprehensive psychosocial treatment, summerMAX, when implemented by a community agency. Fifty-seven high-functioning children (48 male, 9 female), ages 7-12 years with autism spectrum disorder participated in this study. The 5-week summerMAX treatment included instruction and therapeutic activities targeting social/social-communication skills, interpretation of nonliteral language skills, face-emotion recognition skills, and interest expansion...
December 5, 2016: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/27916731/associations-between-the-cntnap2-gene-dorsolateral-prefrontal-cortex-and-cognitive-performance-on-the-stroop-task
#20
Bi Zhu, Chuansheng Chen, Gui Xue, Xuemei Lei, Yunxin Wang, Jin Li, Robert K Moyzis, Jun Li, Qi Dong, Chongde Lin
The CNTNAP2 (contactin-associated protein-like 2) gene, highly expressed in the human prefrontal cortex, has been linked with autism and language impairment. Potential relationships between CNTNAP2, dorsolateral prefrontal cortex (DLPFC), and cognition have been suggested by previous clinical studies, but have not been directly examined in the same study. The current study collected structural MRI, genetic, and behavioral data in 317 healthy Chinese adults, and examined associations between CNTNAP2 variants, DLPFC, and cognitive performance (measured by the Stroop task)...
December 1, 2016: Neuroscience
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