Pubmed du 22/10/18

lundi 22 octobre 2018

1. Chambers NJ, de Vries PJ, Delehanty AD, Wetherby AM. Feasibility of utilizing autism navigator(R) for primary care in South Africa. Autism research : official journal of the International Society for Autism Research. 2018.

There is a significant research-to-practice gap in early detection of young children with autism spectrum disorder (ASD) worldwide but particularly in low- and middle-income countries (LMICs) where expertise is limited and high-quality training is difficult to access. Autism Navigator(R) for Primary Care is a web-based course designed to increase awareness of red flags of ASD in the second year of life and thus promote earlier detection and referral for intervention. It contains extensive video illustrations that offer rapid access to multiple exemplars of ASD red flags. This study examined aspects of feasibility of the Autism Navigator(R) for Primary Care in one LMIC, South Africa. A mixed-methods quasi-experimental design was used to examine relevant professionals’ implementation of the course and measure changes in their knowledge of red flags after training. Perceptions of the acceptability, demand, and practicality of the course were explored in focus groups. Sixty-two providers completed the course online with a 94% completion rate. Built-in learner assessment pass rates ranged from 88% to 100%. Second-language English speakers took longer to complete the learner assessments, and professionals with less access to the Internet spent less time in the course. Participants’ perceptions of the acceptability, demand, and practicality of the course were mostly positive with some suggestions made for local conditions. Results supported the feasibility of the course in this LMIC with some supports required pertaining to language and Internet access. We propose that this training has the potential to lower the age of detection of ASD in South Africa and other LMICs. Autism Research 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Professionals in low- and middle-income countries urgently need training to recognize red flags of autism in very young children. The feasibility of utilizing the Autism Navigator(R) for Primary Care course for this training was explored with 62 South African professionals. After training, professionals’ knowledge of early red flags improved, and most reported the course important and needed in South Africa. They found the web-based design mostly acceptable, practical, and culturally applicable. The course could help lower the age of autism detection.

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2. Friedman L, Lorang E, Sterling A. The use of demonstratives and personal pronouns in fragile X syndrome and autism spectrum disorder. Clinical linguistics & phonetics. 2018 : 1-17.

Demonstratives (e.g. here, that, these) and personal pronouns are early developing components of language, which are often impaired in young children with autism spectrum disorder (ASD). Additionally, demonstrative and personal pronoun use are linked to joint attention and language ability early in life for individuals with ASD. Fragile X syndrome (FXS) is a genetic disorder with a significant amount of overlap in its behavioural phenotype with ASD. The present study examined demonstrative and personal pronoun production during a conversation sample in adolescent boys with ASD and adolescent boys with FXS with a co-diagnosis of ASD (FXS+ASD). Findings indicated that grammatical complexity was related to both qualitative and quantitative aspects of demonstrative and personal pronoun production in boys with ASD, while grammatical complexity was related to the total number of demonstratives and personal pronouns produced in the boys with FXS+ASD. ASD severity was not related to demonstrative or personal pronoun production in ASD, although it was negatively correlated with the total number of personal pronouns produced by the boys with FXS. Additionally, groups did not differ significantly in production of personal pronouns, but they did differ significantly in multiple aspects of demonstrative use. Findings suggest that these groups produce similar rates of personal pronouns in the school-age years, while production of demonstratives differentiates these groups. This study contributes to the knowledge of the language phenotypes of idiopathic ASD and FXS+ASD, and provides implications for intervention targets for school-age children with these disorders.

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3. Hamilton CJ, Mammarella IC, Giofre D. Autistic-like traits in children are associated with enhanced performance in a qualitative visual working memory task. Autism research : official journal of the International Society for Autism Research. 2018.

Prior research has suggested that individuals with Autism Spectrum Disorders (ASD) demonstrate heterogeneity in cognitive efficacy, challenged executive resources but efficient visual processing. These contrasts lead to opposing predictions about visuospatial working memory competency in both ASD and the broader autism phenotype (BAP) ; compromised by constrained executive processes, but potentially scaffolded by effective visual representation. It is surprising therefore, that there is a paucity of visual working memory (VWM) research in both the ASD and BAP populations, which have focused upon the visual features of the to-be-remembered stimulus. We assessed whether individual differences in VWM were associated with autistic-like traits (ALTs) in the BAP. About 76 children carried out the Visual Just Noticeable Difference task, designed to measure high fidelity feature representation within VWM. ALTs were measured with the Children’s Empathy Quotient and Systemizing Quotient. Analyses revealed a significant positive relationship between Systemizing and VWM performance. This complements ASD studies in visual processing and highlights the need for further research on the working memory-long-term memory interface in ASD and BAP populations. Autism Research 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This study was interested in how well children with high levels of autistic-like traits (ALTs) carry out a task which involved memorizing, for brief time, the precise size of colored shapes. The results suggested that children with high levels of ALTs performed the task relatively well. This finding is in contrast to many previous studies suggest that ALTs are associated with poor memory, and suggests that future research needs to look more finely at how individuals carry out these tasks.

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4. Joseph L, Farmer C, Chlebowski C, Henry L, Fish A, Mankiw C, Xenophontos A, Clasen L, Sauls B, Seidlitz J, Blumenthal J, Torres E, Thurm A, Raznahan A. Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome. Journal of neurodevelopmental disorders. 2018 ; 10(1) : 30.

BACKGROUND : XYY syndrome is a sex chromosome aneuploidy that occurs in 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS : We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS : Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS : By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS : NCT00001246 , "89-M-0006 : Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls."

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5. Kariminejad A, Yazdan H, Rahimian E, Kalhor Z, Fattahi Z, Zonooz MF, Najmabadi H, Ashrafi M. SZT2 mutation in a boy with intellectual disability, seizures and autistic features. European journal of medical genetics. 2018.

The seizure threshold 2 (SZT2) gene has been shown to confer a low seizure threshold and may enhance epileptogenesis in mice. However, its biological function is still not known. Mutations in SZT2 have been reported in very few patients and features range from mild to moderate intellectual disability without seizures to severe intellectual disability with epileptic encephalopathies with severe developmental delay. Here, we report a six-year-old boy with a novel homozygous mutation in SZT2 gene with intellectual disability, seizures, absent speech and autistic features. We are reporting the first patient with autistic features including very little or no eye contact, arm flapping and repetitive behaviour.

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6. Lashewicz B, Boettcher N, Lo A, Shipton L, Parrott B. Fathers Raising Children with Autism Spectrum Disorder : Stories of Marital Stability as Key to Parenting Success. Issues in mental health nursing. 2018 : 1-9.

Using media reports of high divorce rates among couples of children with ASD as a point of departure, our purpose in this paper is to examine how married fathers of children with ASD understand their marriages relative to the demands of ASD and in the context of media reports of elevated divorce rates among parents raising children with ASD. We begin with a review of select literature pertaining to the impact of ASD on marriages and we include a brief account of popular media portrayals of the influence of having a child with a developmental disability, and ASD in particular, on marriages. We then describe our qualitative examination of narrative interview data from 26 married fathers raising children with ASD aged 2-13 beginning with our theoretical anchoring in social comparison to focus our attention on how fathers compare themselves with media accounts of elevated divorce rates among parents of children and also with other hypothetical family configurations. Our findings are evidence of fathers’ strong and strengthened commitments to marriages and we illustrate a re-purposing of inflated portrayals of divorce rates to shore up fathers’ sense of their own effectiveness as husbands and fathers.

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7. Margolis KG, Buie TM, Turner JB, Silberman AE, Feldman JF, Murray KF, McSwiggan-Hardin M, Levy J, Bauman ML, Veenstra-VanderWeele J, Whitaker AH, Winter HS. Development of a Brief Parent-Report Screen for Common Gastrointestinal Disorders in Autism Spectrum Disorder. Journal of autism and developmental disorders. 2018.

Gastrointestinal dysfunction in children with autism spectrum disorder (ASD) is common and associated with problem behaviors. This study describes the development of a brief, parent-report screen that relies minimally upon the child’s ability to report or localize pain for identifying children with ASD at risk for one of three common gastrointestinal disorders (functional constipation, functional diarrhea, and gastroesophageal reflux disease). In a clinical sample of children with ASD, this 17-item screen identified children having one or more of these disorders with a sensitivity of 84%, specificity of 43%, and a positive predictive value of 67%. If found to be valid in an independent sample of children with ASD, the screen will be useful in both clinical practice and research.

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8. Marrus N, Hall LP, Paterson SJ, Elison JT, Wolff JJ, Swanson MR, Parish-Morris J, Eggebrecht AT, Pruett JR, Jr., Hazlett HC, Zwaigenbaum L, Dager S, Estes AM, Schultz RT, Botteron KN, Piven J, Constantino JN. Language delay aggregates in toddler siblings of children with autism spectrum disorder. Journal of neurodevelopmental disorders. 2018 ; 10(1) : 29.

BACKGROUND : Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of language development in unaffected siblings of children with ASD can inform whether decreased early language ability aggregates with inherited risk for ASD and serves as an ASD endophenotype. METHODS : We implemented two approaches : (1) a meta-analysis of studies comparing language delay, a categorical indicator of language function, and language scores, a continuous metric, in unaffected toddlers at high and low familial risk for ASD, and (2) a parallel analysis of 350 unaffected 24-month-olds in the Infant Brain Imaging Study (IBIS), a prospective study of infants at high and low familial risk for ASD. An advantage of the former was its detection of group differences from pooled data across unique samples ; an advantage of the latter was its sensitivity in quantifying early manifestations of language delay while accounting for covariates within a single large sample. RESULTS : Meta-analysis showed that high-risk siblings without ASD (HR-noASD) were three to four times more likely to exhibit language delay versus low-risk siblings without ASD (LR-noASD) and had lower mean receptive and expressive language scores. Analyses of IBIS data corroborated that language delay, specifically receptive language delay, was more frequent in the HR-noASD (n = 235) versus LR-noASD group (n = 115). IBIS language scores were continuously and unimodally distributed, with a pathological shift towards decreased language function in HR-noASD siblings. The elevated inherited risk for ASD was associated with lower receptive and expressive language scores when controlling for sociodemographic factors. For receptive but not expressive language, the effect of risk group remained significant even when controlling for nonverbal cognition. CONCLUSIONS : Greater frequency of language delay and a lower distribution of language scores in high-risk, unaffected toddler-aged siblings support decreased early language ability as an endophenotype for ASD, with a more pronounced effect for receptive versus expressive language. Further characterization of language development is warranted to refine genetic investigations of ASD and to elucidate factors influencing the progression of core autistic traits and related symptoms.

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9. Qing B, Canovic EP, Mijailovic AS, Jagielska A, Whitfield MJ, Lowe AL, Kelly EH, Turner D, Sahin M, Van Vliet K. PROBING MECHANICAL PROPERTIES OF BRAIN IN A TUBEROUS SCLEROSIS MODEL OF AUTISM. Journal of biomechanical engineering. 2018.

Causes of Autism Spectrum Disorders (ASD) are understood poorly, making diagnosis and treatment challenging. While many studies have investigated the biochemical and genetic aspects of ASD, whether and how mechanical characteristics of the autistic brain can modulate neuronal connectivity and cognition in ASD are unknown. Previously, it has been shown that ASD brains are characterized by abnormal white matter and disorganized neuronal connectivity ; we hypothesized that these significant cellular-level structural changes may translate to changes in the mechanical properties of the autistic brain or regions therein. Here, we focused on tuberous sclerosis complex (TSC), a genetic disorder with a high penetrance of ASD. We investigated mechanical differences between murine brains obtained from control and TSC cohorts at various deformation length- and time-scales. At the microscale, we conducted creep-compliance and stress relaxation experiments using atomic force microscope-enabled indentation. At the mesoscale, we conducted impact indentation using a pendulum-based instrumented indenter to extract mechanical energy dissipation metrics. At the macroscale, we used oscillatory shear rheology to quantify the frequency-dependent shear moduli. Despite significant changes in the cellular organization of TSC brain tissue, we found no corresponding changes in the quantified mechanical properties at every length- and time-scale explored. This investigation of the mechanical characteristics of the brain has broadened our understanding of causes and markers of TSC/ASD, while raising questions about whether any mechanical differences can be detected in other animal models of ASD or other disease models that also feature abnormal brain structure.

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10. R EW, Zhang Y, Gray T, Abbacchi A, Cormier D, Todorov A, Constantino JN. Autism-Related Variation in Reciprocal Social Behavior : A Longitudinal Study. Child development. 2018.

Deficits in reciprocal social behavior are a characterizing feature of autism spectrum disorder (ASD). Autism-related variation in reciprocal social behavior (AVR) in the general population is continuously distributed and highly heritable-a function of additive genetic influences that overlap substantially with those which engender clinical autistic syndromes. This is the first long-term prospective study of the stability of AVR from childhood through early adulthood, conducted via serial ratings using the Social Responsiveness Scale, in a cohort-sequential study involving children with ASD, other psychiatric conditions, and their siblings (N = 602, ages = 2.5-29). AVR exhibits marked stability throughout childhood in individuals with and without ASD.

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11. Reiter MA, Mash LE, Linke AC, Fong CH, Fishman I, Muller RA. Distinct Patterns of Atypical Functional Connectivity in Lower-Functioning Autism. Biological psychiatry Cognitive neuroscience and neuroimaging. 2018.

BACKGROUND : Functional magnetic resonance imaging research on autism spectrum disorders (ASDs) has been largely limited to individuals with near-average intelligence. Although cognitive impairment is common in ASDs, functional network connectivity in this population remains poorly understood. Specifically, it remains unknown whether lower-functioning individuals exhibit exacerbated connectivity abnormalities similar to those previously detected in higher-functioning samples or specific divergent patterns of connectivity. METHODS : Resting-state functional magnetic resonance imaging data from 88 children (44 ASD, 44 typically developing ; average age : 11 years) were included. Based on IQ, individuals with ASDs were assigned to either a lower-functioning group (mean IQ = 77 +/- 6) or a higher-functioning group (mean IQ = 123 +/- 8). Two typically developing comparison groups were matched to these groups on head motion, handedness, and age. Seeds in the medial prefrontal cortex, posterior cingulate cortex, posterior superior temporal sulcus, insula, and amygdala were used to contrast whole-brain functional connectivity across groups. RESULTS : Lower-functioning ASD participants (compared with higher-functioning ASD participants) showed significant underconnectivity within the default mode network and the ventral visual stream. Higher-functioning ASD participants (compared with matched typically developing participants) showed significantly decreased anticorrelations among default mode, salience, and task-positive regions. Effect sizes of detected differences were large (Cohen’s d > 1.46). CONCLUSIONS : Lower- and higher-functioning individuals with ASDs demonstrated distinct patterns of atypical connectivity. Findings suggest a gross pattern of predominantly reduced network integration in lower-functioning ASDs (affecting default mode and visual networks) and predominantly reduced network segregation in higher-functioning ASDs. Results indicate the need for stratification by general functional level in studies of functional connectivity in ASDs.

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12. Vaskinn A, Abu-Akel A. The interactive effect of autism and psychosis severity on theory of mind and functioning in schizophrenia. Neuropsychology. 2018.

OBJECTIVE : Autism and schizophrenia are characterized by impairments in social cognition and functioning. They can co-occur at both the trait/symptom and diagnostic levels. We investigated the concurrent effect of autism and psychotic symptom severity on social cognition and functioning in schizophrenia. METHOD : Individuals with schizophrenia or schizoaffective disorder were included (N = 81 ; 32 women). Symptoms were measured with the Positive and Negative Syndrome Scale using the Positive subscale (PANSSpos ; Kay, Fiszbein, & Opler, 1987) and the PANSS Autism Severity Score (PAUSS ; Kastner et al., 2015). Theory of mind (ToM) was assessed with the Movie for the Assessment of Social Cognition (MASC ; Dziobek et al., 2006), which yields scores for three error types : overmentalizing, undermentalizing, and no mentalizing. Functioning was assessed with the Global Assessment of Functioning (GAF-f ; Pedersen, Hagtvet, & Karterud, 2007) and the Social Functioning Scale (SFS ; Birchwood, Smith, Cochrane, Wetton, & Copestake, 1990). The sample was bimodally distributed and therefore divided into low and high PAUSS groups. We used generalized linear models to examine the effect of PANSSpos, PAUSS, and their interaction on GAF-f, SFS, and MASC scores. RESULTS : For the entire cohort, the PANSSpos x PAUSS interaction was significantly associated with better GAF-f (p = .005), SFS (p = .029), and overall ToM (p = .035), and for the high-PAUSS group, with reduced overmentalizing errors (p = .002), resulting in better overall ToM. CONCLUSION : Concurrent elevated levels of autism and positive psychotic symptoms seem to benefit functioning and social cognition in schizophrenia. The results are consistent with the diametric model, which posits that autism and schizophrenia are characterized by opposing patterns in mentalizing, and promote the radical idea that the presence of both disorders may be associated with attenuated impairments. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

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