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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/28527095/-putting-on-my-best-normal-social-camouflaging-in-adults-with-autism-spectrum-conditions
#6
Laura Hull, K V Petrides, Carrie Allison, Paula Smith, Simon Baron-Cohen, Meng-Chuan Lai, William Mandy
Camouflaging of autistic characteristics in social situations is hypothesised as a common social coping strategy for adults with autism spectrum conditions (ASC). Camouflaging may impact diagnosis, quality of life, and long-term outcomes, but little is known about it. This qualitative study examined camouflaging experiences in 92 adults with ASC, with questions focusing on the nature, motivations, and consequences of camouflaging. Thematic analysis was used to identify key elements of camouflaging, which informed development of a three-stage model of the camouflaging process...
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
#7
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/28526515/prenatal-lipopolysaccharide-induces-hypothalamic-dopaminergic-hypoactivity-and-autistic-like-behaviors-repetitive-self-grooming-and-stereotypies
#8
Thiago B Kirsten, Maria M Bernardi
Previous investigations by our group have shown that prenatal exposure to lipopolysaccharide (LPS), which mimics infection by gram-negative bacteria, induces social, cognitive, and communication deficits. For a complete screening of autistic-like behaviors, the objective of this study was to evaluate if our rat model also induces restricted and repetitive stereotyped behaviors. Thus, we studied the self-grooming microstructure. We also studied the neurochemistry of hypothalamus and frontal cortex, which are brain areas related to autism to better understand central mechanisms involved in our model...
May 16, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28525805/typical-integration-of-emotion-cues-from-bodies-and-faces-in-autism-spectrum-disorder
#9
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
#10
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/28524815/anchoring-high-concentrations-of-syngap-at-postsynaptic-densities-via-liquid-liquid-phase-separation
#11
Menglong Zeng, Guanhua Bai, Mingjie Zhang
SynGAP, encoded by SYNGAP1, is a Ras/Rap GTPase activator specifically expressed in the nervous systems. SynGAP is one of the most abundant proteins in the postsynaptic densities (PSDs) of excitatory synapses and acts as a critical synaptic activity brake by tuning down synaptic GTPase activities. Mutations of SYNGAP1 have been frequently linked to brain disorders including intellectual disability, autisms, and seizure. SynGAP has been shown to undergo fast dispersions from synapses in response to stimulations, a strategy that neurons use to control the specific activities of the enzyme within the tiny, semi-open compartments in dendritic spines...
May 19, 2017: Small GTPases
https://www.readbyqxmd.com/read/28524462/editorial-perspective-neurodiversity-a-revolutionary-concept-for-autism-and-psychiatry
#12
EDITORIAL
Simon Baron-Cohen
Should we continue to refer to autism as a 'disease' or 'disorder', or is the framework of 'neurodiversity' a more humane and accurate lens through which to view people with autism? Evidence at the genetic, neural, behavioural and cognitive levels reveals people with autism show both differences, and signs of disability, but not disorder. Disability requires societal support, acceptance of difference and diversity, and societal "reasonable adjustment", whilst disorder is usually taken to require cure or treatment...
June 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28524378/psychometric-characteristics-of-the-mental-health-crisis-assessment-scale-in-youth-with-autism-spectrum-disorder
#13
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
#14
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
#15
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
#16
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/28523977/the-application-of-deep-brain-stimulation-in-the-treatment-of-psychiatric-disorders
#17
Ilse Graat, Martijn Figee, Damiaan Denys
Deep brain stimulation (DBS) is a last-resort treatment for neurological and psychiatric disorders that are refractory to standard treatment. Over the last decades, the progress of DBS in psychiatry has been slower than in neurology, in part owing to the heterogenic symptomatology and complex neuroanatomy of psychiatric disorders. However, for obsessive-compulsive disorder (OCD) DBS is now an accepted treatment. This study first reviews clinical outcomes and mechanisms of DBS for OCD, and then discusses these results in an overview of current and future psychiatric applications, including DBS for mood disorders, Tourette's syndrome, addiction, anorexia nervosa, autism, schizophrenia, and anxiety disorders...
April 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28523937/attentional-set-shifting-and-social-abilities-in-children-with-schizotypal-and-comorbid-autism-spectrum-disorders
#18
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
#19
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/28523392/brief-report-autism-in-the-courtroom-experiences-of-legal-professionals-and-the-autism-community
#20
Katie L Maras, Laura Crane, Sue Mulcahy, Tamsyn Hawken, Penny Cooper, David Wurtzel, Amina Memon
Online surveys were used to sample the views of judges, barristers and solicitors (n = 33) about their engagement with autistic individuals in criminal courts in England and Wales. Despite an understanding of some of the difficulties experienced by individuals with autism, and the adjustments suitable for supporting them, legal professionals reported constraints arising from a lack of understanding by others within the criminal justice system. These results are considered alongside the views and perspectives of autistic adults (n = 9) and parents of children on the autism spectrum (n = 19), who had encountered the criminal courts as witnesses or defendants and were largely dissatisfied with their experiences...
May 18, 2017: Journal of Autism and Developmental Disorders
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