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Autism Spectrum Disorder

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https://www.readbyqxmd.com/read/28528329/the-interrater-reliability-of-the-autism-diagnostic-interview-revised-adi-r-in-clinical-settings
#1
Eric Zander, Charlotte Willfors, Steve Berggren, Christina Coco, Anette Holm, Ida Jifält, Renata Kosieradzki, Jenny Linder, Viviann Nordin, Karin Olafsdottir, Sven Bölte
BACKGROUND: The Autism Diagnostic Interview-Revised (ADI-R) is considered a first choice assessment tool in autism spectrum disorder. Nevertheless, despite its wide use in psychiatric practice and recommendations by various clinical guidelines, its interrater reliability has predominantly been confirmed in research settings by specially trained, research reliability interviewers. The reliability of ADI-R assessments among clinicians has not yet been established. Therefore, this study examined the spontaneous interrater reliability of the ADI-R in a naturalistic clinical multicenter setting...
May 20, 2017: Psychopathology
https://www.readbyqxmd.com/read/28527716/discovery-of-recurring-behavioural-sequences-in-wistar-rat-social-activity-possible-support-to-studies-on-autism-spectrum-disorders
#2
M Casarrubea, F Faulisi, A Cudia, D Cancemi, M Cardaci, M S Magnusson, G Crescimanno
This study was undertaken to investigate whether, in rat interactive activities, recurring sequences of behavioural events might be identified and how and to what extent each component of the pair is involved. To this aim, the multivariate temporal-pattern (t-pattern) analysis was applied to the social interactions of 9 pairs of male Wistar rats tested in open field. Interactive activities were classified into intra- and inter-subjects. Quantitative evaluations showed that intra-subject behavioural elements represented 62...
May 17, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#3
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28527098/mediating-effects-of-social-support-on-quality-of-life-for-parents-of-adults-with-autism
#4
Christina N Marsack, Preethy S Samuel
The aim of this study was to examine the mediating effect of formal and informal social support on the relationship of caregiver burden and quality of life (QOL), using a sample of 320 parents (aged 50 or older) of adult children with autism spectrum disorder (ASD). Multiple linear regression and mediation analyses indicated that caregiver burden had a negative impact on QOL and that informal social support partially mediated the relationship between caregiver burden and parents' QOL. Formal social support did not mediate the relationship between caregiver burden and QOL...
May 19, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28527097/the-flexibility-scale-development-and-preliminary-validation-of-a-cognitive-flexibility-measure-in-children-with-autism-spectrum-disorders
#5
John F Strang, Laura G Anthony, Benjamin E Yerys, Kristina K Hardy, Gregory L Wallace, Anna C Armour, Katerina Dudley, Lauren Kenworthy
Flexibility is a key component of executive function, and is related to everyday functioning and adult outcomes. However, existing informant reports do not densely sample cognitive aspects of flexibility; the Flexibility Scale (FS) was developed to address this gap. This study investigates the validity of the FS in 221 youth with ASD and 57 typically developing children. Exploratory factor analysis indicates a five-factor scale: Routines/rituals, transitions/change, special interests, social flexibility, and generativity...
May 19, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#6
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28525805/typical-integration-of-emotion-cues-from-bodies-and-faces-in-autism-spectrum-disorder
#7
Rebecca Brewer, Federica Biotti, Geoffrey Bird, Richard Cook
Contextual cues derived from body postures bias how typical observers categorize facial emotion; the same facial expression may be perceived as anger or disgust when aligned with angry and disgusted body postures. Individuals with Autism Spectrum Disorder (ASD) are thought to have difficulties integrating information from disparate visual regions to form unitary percepts, and may be less susceptible to visual illusions induced by context. The current study investigated whether individuals with ASD exhibit diminished integration of emotion cues extracted from faces and bodies...
May 16, 2017: Cognition
https://www.readbyqxmd.com/read/28525627/geographic-patterns-of-autism-spectrum-disorder-among-children-of-nurses-health-study-ii-women
#8
Kate Hoffman, Marc G Weisskopf, Andrea L Roberts, Raanan Raz, Jaime E Hart, Kristen Lyall, Elin M Hoffman, Francine Laden, Verónica M Vieira
Data indicate that autism spectrum disorder (ASD) prevalence may be increasing and varies geographically. We investigated associations between residential location and ASD in the children of Nurses' Health Study II women in order to generate hypotheses about social and environmental factors related to etiology or diagnosis. Analyses included 13,507 children born from 1989-1999 (486 with ASD). We explored relationships between ASD and residential location at both birth and age 6 years (i.e. closer to average diagnosis age)...
May 19, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28524378/psychometric-characteristics-of-the-mental-health-crisis-assessment-scale-in-youth-with-autism-spectrum-disorder
#9
Luther G Kalb, Louis P Hagopian, Alden L Gross, Roma A Vasa
BACKGROUND: Youth with autism spectrum disorder (ASD) exhibit high rates of psychopathology. These symptoms can pose a risk of injury to self or others when the child is in crisis. Despite this danger, there are no instruments available to identify those with ASD who are at risk or actively in crisis. This study examined the psychometric properties of the Mental Health Crisis Assessment Scale (MCAS), a 28 item parent report measure. METHODS: The MCAS was administered to the parents of 606 children and young adults (aged 3-25 years, M age = 13 years, SD = 5 years) enrolled in the Interactive Autism Network, an online registry of families raising a child with ASD...
May 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28524230/the-etiology-of-autistic-traits-in-preschoolers-a-population-based-twin-study
#10
Eveline L de Zeeuw, Catharina E M van Beijsterveldt, Rosa A Hoekstra, Meike Bartels, Dorret I Boomsma
BACKGROUND: Autism Spectrum Disorders (ASD) are highly heritable, but the exact etiological mechanisms underlying the condition are still unclear. METHODS: Using a multiple rater twin design in a large sample of general population preschool twins, this study aimed to (a) estimate the contribution of genetic and environmental factors to autistic traits, controlling for the possible effects of rater bias, (b) to explore possible sex differences in etiology and (c) to investigate the discordance in autistic traits in monozygotic and same-sex dizygotic twin pairs...
May 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28524075/examining-the-overlap-between-autism-spectrum-disorder-and-22q11-2-deletion-syndrome
#11
Opal Ousley, A Nichole Evans, Samuel Fernandez-Carriba, Erica L Smearman, Kimberly Rockers, Michael J Morrier, David W Evans, Karlene Coleman, Joseph Cubells
22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28524073/parents-attitudes-toward-clinical-genetic-testing-for-autism-spectrum-disorder-data-from-a-norwegian-sample
#12
Jarle Johannessen, Terje Nærland, Sigrun Hope, Tonje Torske, Anne Lise Høyland, Jana Strohmaier, Arvid Heiberg, Marcella Rietschel, Srdjan Djurovic, Ole A Andreassen
Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents' attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents' attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28523937/attentional-set-shifting-and-social-abilities-in-children-with-schizotypal-and-comorbid-autism-spectrum-disorders
#13
Ahmad Abu-Akel, Renee R Testa, Harvey P Jones, Nola Ross, Efstratios Skafidas, Bruce Tonge, Christos Pantelis
OBJECTIVE: While diagnostically independent, autism and schizotypal disorders can co-occur. Their concurrent impact on outcomes and phenotypes has not been investigated. We investigated the impact of comorbid autism and schizotypal disorders in children on executive functioning and socio-pragmatic skills - core features of both disorders. METHOD: Executive functioning (assessed with the Cambridge Neuropsychological Test Automated Battery) and socio-pragmatic skills (assessed using the Melbourne Assessment of Schizotypy in Kids) were investigated in a total of 67 (6-12 year old) children with autism ( n = 15; M/F = 10/5), schizotypal disorder ( n = 8; M/F = 5/3) and comorbid autism and schizotypal disorder ( n = 12; M/F = 5/7) and typically developing children ( n = 32; M/F = 17/15)...
May 1, 2017: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/28523541/epigenetics-of-autism-spectrum-disorder
#14
Michelle T Siu, Rosanna Weksberg
Autism spectrum disorder (ASD), one of the most common childhood neurodevelopmental disorders (NDDs), is diagnosed in 1 of every 68 children. ASD is incredibly heterogeneous both clinically and aetiologically. The etiopathogenesis of ASD is known to be complex, including genetic, environmental and epigenetic factors. Normal epigenetic marks modifiable by both genetics and environmental exposures can result in epigenetic alterations that disrupt the regulation of gene expression, negatively impacting biological pathways important for brain development...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28522826/disruption-of-melatonin-synthesis-is-associated-with-impaired-14-3-3-and-mir-451-levels-in-patients-with-autism-spectrum-disorders
#15
Cécile Pagan, Hany Goubran-Botros, Richard Delorme, Marion Benabou, Nathalie Lemière, Kerren Murray, Frédérique Amsellem, Jacques Callebert, Pauline Chaste, Stéphane Jamain, Fabien Fauchereau, Guillaume Huguet, Erik Maronde, Marion Leboyer, Jean-Marie Launay, Thomas Bourgeron
Autism spectrum disorders (ASD) are characterized by a wide genetic and clinical heterogeneity. However, some biochemical impairments, including decreased melatonin (crucial for circadian regulation) and elevated platelet N-acetylserotonin (the precursor of melatonin) have been reported as very frequent features in individuals with ASD. To address the mechanisms of these dysfunctions, we investigated melatonin synthesis in post-mortem pineal glands - the main source of melatonin (9 patients and 22 controls) - and gut samples - the main source of serotonin (11 patients and 13 controls), and in blood platelets from 239 individuals with ASD, their first-degree relatives and 278 controls...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28521251/the-protective-effect-of-character-maturity-in-child-aggressive-antisocial-behavior
#16
Nóra Kerekes, Örjan Falk, Sven Brändström, Henrik Anckarsäter, Maria Råstam, Björn Hofvander
BACKGROUND: Childhood aggressive antisocial behavior (CD) is one of the strongest predictors of mental health problems and criminal behavior in adulthood. The aims of this study were to describe personality profiles in children with CD, and to determine the strength of association between defined neurodevelopmental symptoms, dimensions of character maturity and CD. METHODS: A sample of 1886 children with a close to equal distribution of age (9 or 12) and gender, enriched for neurodevelopmental and psychiatric problems were selected from the nationwide Child and Adolescent Twin Study in Sweden...
April 29, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28521112/prevalence-of-externalizing-disorders-and-autism-spectrum-disorder-among-children-with-fetal-alcohol-spectrum-disorder-systematic-review-and-meta-analysis
#17
Shannon Lange, Jürgen Rehm, Evdokia Anagnostou, Svetlana Popova
Due to their central nervous system impairments, children with Fetal Alcohol Spectrum Disorder (FASD) commonly exhibit externalizing behaviours such as hyperactivity, impulsivity, and/or delinquency. The purpose of the current study was to estimate the prevalence of neurodevelopmental disorders with prominent externalizing behaviours, namely Attention-Deficit Hyperactivity Disorder (ADHD), Conduct Disorder (CD), Oppositional Defiant Disorder (ODD), as well as Autism Spectrum Disorder (ASD) among children with FASD...
May 18, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28516426/characterization-of-medication-use-in-a-multicenter-sample-of-pediatric-inpatients-with-autism-spectrum-disorder
#18
Logan K Wink, Ernest V Pedapati, Ryan Adams, Craig A Erickson, Kahsi A Pedersen, Eric M Morrow, Desmond Kaplan, Matthew Siegel
Nearly 11% of youth with Autism Spectrum Disorder (ASD) undergo psychiatric hospitalization, and 65% are treated with psychotropic medication. Here we characterize psychotropic medication usage in subjects enrolled in the Autism Inpatient Collection. Participant psychotropic medication usage rates topped 90% at admission and discharge, though there was a decline at 2-month follow-up. Antipsychotics, ADHD medications, and sleep aids were the most commonly reported classes of medications. The impact of age, gender, and non-verbal IQ on medication usage rates was minimal, though age and IQ may play a role in prescribing practices...
May 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28516424/differing-developmental-trajectories-in-heart-rate-responses-to-speech-stimuli-in-infants-at-high-and-low-risk-for-autism-spectrum-disorder
#19
Katherine L Perdue, Laura A Edwards, Helen Tager-Flusberg, Charles A Nelson
We investigated heart rate (HR) in infants at 3, 6, 9, and 12 months of age, at high (HRA) and low (LRC) familial risk for ASD, to identify potential endophenotypes of ASD risk related to attentional responses. HR was extracted from functional near-infrared spectroscopy recordings while infants listened to speech stimuli. Longitudinal analysis revealed that HRA infants and males generally had lower baseline HR than LRC infants and females. HRA infants showed decreased HR responses to early trials over development, while LRC infants showed increased responses...
May 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28516423/exploring-the-components-of-advanced-theory-of-mind-in-autism-spectrum-disorder
#20
C Pedreño, E Pousa, J B Navarro, M Pàmias, J E Obiols
Performance of a group of 35 youth and adults with High-Functioning Autism (HFA) was compared with a typical developing (TD) group on three Advanced Theory of Mind tests. The distinction between the social-cognitive and social-perceptual components of Theory of Mind was also explored. The HFA group had more difficulties in all tasks. Performance on the two social-cognitive tests was highly correlated in the HFA group, but these were not related with the social-perceptual component. These results suggest that the youth with HFA have difficulties on all the components of social knowledge but may be using different underlying cognitive abilities depending on the nature of the task...
May 17, 2017: Journal of Autism and Developmental Disorders
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