Pubmed du 26/10/18

vendredi 26 octobre 2018

1. Adams D, Hastings RP, Alston-Knox C, Cianfaglione R, Eden K, Felce D, Griffith G, Moss J, Stinton C, Oliver C. Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism. Orphanet journal of rare diseases. 2018 ; 13(1) : 185.

BACKGROUND : It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of children with rare genetic syndromes. This study describes mental health and well-being in mothers of children with 13 rare genetic syndromes and contrasts the results with mothers of children with autism. METHODS : Mothers of children with 13 genetic syndromes (n = 646 ; Angelman, Cornelia de Lange, Down, Fragile-X, Phelan McDermid, Prader-Willi, Rett, Rubenstein Taybi, Smith Magenis, Soto, Tuberous Sclerosis Complex, 1p36 deletion and 8p23 deletion syndromes) and mothers of children with autism (n = 66) completed measures of positive mental health, stress and depression. Using Bayesian methodology, the influence of syndrome, child ability, and mother and child age were explored in relation to each outcome. Bayesian Model Averaging was used to explore maternal depression, positive gain and positive affect, and maternal stress was tested using an ordinal probit regression model. RESULTS : Different child and mother factors influenced different aspects of mental well-being, and critically, the importance of these factors differed between syndromes. Maternal depression was influenced by child ability in only four syndromes, with the other syndromes reporting elevated or lower levels of maternal depression regardless of child factors. Maternal stress showed a more complex pattern of interaction with child ability, and for some groups, child age. Within positive mental health, mother and child age were more influential than child ability. Some syndromes reported comparable levels of depression (SMS, 1p36, CdLS) and stress (SMS, AS) to mothers of children with autism. CONCLUSIONS : Bayesian methodology was used in a novel manner to explore factors that explain variability in mental health amongst mothers of children with rare genetic disorders. Significant proportions of mothers of children with specific genetic syndromes experienced levels of depression and stress similar to those reported by mothers of children with autism. Identifying such high-risk mothers allows for potential early intervention and the implementation of support structures.

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2. Bjorklund G, Meguid NA, El-Ansary A, El-Bana MA, Dadar M, Aaseth J, Hemimi M, Osredkar J, Chirumbolo S. Diagnostic and Severity-Tracking Biomarkers for Autism Spectrum Disorder. Journal of molecular neuroscience : MN. 2018.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder afflicting about one in every 68 children. It is behaviorally diagnosed based on a triad of symptoms, including impairment in communication, impairment in sociability and abnormal and stereotypic behavior. The subjectivity of behavioral diagnosis urges the need for clinical biomarker tests to improve and complement ASD diagnosis and treatment. Over the past two decades, researchers garnered a broad range of biomarkers associated with ASD and often correlating with the severity of ASD, which includes metabolic and genetic biomarkers or neuroimaging abnormalities. Metabolic biomarkers are either involved in key pathways such as a trans-sulfuration pathway or produced due to the derangement of these pathways in the case of oxidative stress. Recent studies reported several genetic abnormalities related to ASD, encompassing various mechanisms, from copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) to chromosomal anomalies. However, it is still premature to consider these genetic variants as true biomarkers for ASD, due to their low reproducibility and regional-specific nature. Herein, we comprehensively review state of the art about major biomarkers reported in ASD and the association of some biomarkers with ASD symptoms and severity. It is important to establish those biomarkers to be able to help in the diagnosis and to optimize the treatment of ASD.

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3. Bolte S, Richman KA. Hard talk : Does autism need philosophy ?. Autism : the international journal of research and practice. 2018 : 1362361318808181.

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4. Constantino JN. Early behavioral indices of inherited liability to autism. Pediatric research. 2018.

Recent developmental studies have indicated that autism spectrum disorder (ASD) may arise from critical combinations of specific early neurobehavioral susceptibilities, each of which may be traceable to partially independent sets of genetic variation. These susceptibilities and their respective genetic origins may not relate to the characterizing symptoms of ASD (after it develops) in a straightforward way. Furthermore, some of the contributory liabilities may not necessarily be specific to ASD, and may account for "missing heritability" in molecular genetic studies. Identifying common genetic variants linked to these underlying traits rather than to a diagnosis of ASD may account for a greater share of the population-attributable risk for ASD, especially if autism represents a developmental consequence of earlier-interacting susceptibilities. To elucidate the early endophenotypic structure for the development of autism will require testing of a next generation of viable early phenotypic candidates in a manner that is epidemiologically rigorous, in which the distinction between ASD prediction in the general population and ASD prediction of autism recurrence (i.e., within families affected by ASD) is closely attended to, and in which the relationships between endophenotypic candidates are mapped and normed.

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5. Cummins C, Pellicano E, Crane L. Supporting Minimally Verbal Autistic Girls with Intellectual Disabilities Through Puberty : Perspectives of Parents and Educators. Journal of autism and developmental disorders. 2018.

Limited research has examined puberty in autistic girls, yet alone those who are minimally verbal and with additional intellectual disabilities. In this study, ten parents and ten educators were interviewed about their views and experiences of supporting these girls through puberty. Results demonstrated that many parents had concerns prior to the onset of puberty in these girls. Yet, for most girls, experiences of puberty were felt to be positive, with the girls coping well with changes that they were experiencing (e.g. menstruation, breast development and developing body hair). Thematic analysis of interview data highlighted three main themes : a range of individual experiences and needs ; the importance of promoting dignity and respect ; and identifying ways to support these girls through puberty.

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6. Dai YC, Zhang HF, Schon M, Bockers TM, Han SP, Han JS, Zhang R. Neonatal Oxytocin Treatment Ameliorates Autistic-Like Behaviors and Oxytocin Deficiency in Valproic Acid-Induced Rat Model of Autism. Frontiers in cellular neuroscience. 2018 ; 12 : 355.

Autism spectrum disorder (ASD) is characterized by impaired social communication and repetitive/stereotyped behaviors. The neuropeptide oxytocin (OXT) plays a critical role in regulating social behaviors in the central nervous system, as indicated in both human and animal studies. We hypothesized that central OXT deficit is one of causes of etiology of ASD, which may be responsible for the social impairments. To test our hypothesis, central OXT system was examined in valproic acid (VPA)-induced rat model of autism (VPA rat). Our results showed that adolescent VPA rats exhibited a lower level of OXT mRNA and fewer OXT-ir cells in the hypothalamus than control rats. Additionally, OXT concentration in cerebrospinal fluid (CSF) was reduced. The number of OXT-ir cells in the supraoptic nucleus (SON) of neonatal VPA rats was also lower. Autistic-like behaviors were observed in these animals as well. We found that an acute intranasal administration of exogenous OXT restored the social preference of adolescent VPA rats. Additionally, early postnatal OXT treatment had long-term effects ameliorating the social impairments and repetitive behaviors of VPA rats until adolescence. This was accompanied by an increase in OXT-ir cells. Taken together, we demonstrated there was central OXT deficiency in the VPA-induced rat model of autism, and showed evidence that early postnatal OXT treatment had a long-term therapeutic effect on the autistic-like behaviors in VPA rats.

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7. Fernell E. Further studies of GABA and Glutamate imbalances in autism are important challenges for future research. Acta paediatrica (Oslo, Norway : 1992). 2018.

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8. Gardner L, Campbell JM, Westdal J. Brief Report : Descriptive Analysis of Law Enforcement Officers’ Experiences with and Knowledge of Autism. Journal of autism and developmental disorders. 2018.

Individuals with Autism Spectrum Disorder (ASD) may interact with law enforcement officers (LEOs) as victims of crime, witnesses to crime, or suspects of crime. Interactions between LEOs and those with ASD may go awry which raises questions about levels of training, experiences, and knowledge acquired by LEOs. Seventy-two LEOs reported on their experiences and training related to ASD and completed a survey of autism knowledge. The majority (72.2%) of LEOs reported no formal training for interacting with individuals with ASD. For LEOs responding to calls involving ASD, officers with prior training reported better preparation. Officers’ responses to the knowledge survey varied considerably. Results support the need for formalized training in ASD for LEOs.

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9. Hayes AL. Autism Spectrum Disorder : Patient Care Strategies for Medical Imaging. Radiologic technology. 2018 ; 90(1) : 31-47.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects how a person processes information, communicates, and behaves. This article explores ASD to help radiologic technologists understand the condition and the challenges it presents for those attempting to provide quality care in the radiologic sciences. The increase in prevalence estimates and changes to the diagnostic criteria are explained, and recent relevant research and guidelines are reviewed. Clinical practice considerations also are discussed, with emphasis on organizational strategies and evidence-based approaches to patient management.

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10. Hollin G, Pearce W. Autism Scientists’ Reflections on the Opportunities and Challenges of Public Engagement : A Qualitative Analysis. Journal of autism and developmental disorders. 2018.

This article draws upon qualitative interviews in order to examine how UK based research psychologists understand public engagement activities and interactions with autistic advocates. Researchers describe public engagement as difficult and understand these difficulties as stemming from autistic impairments. In particular, it is reported that a heterogeneity of autism impairments means there is little agreement on the form research should take, while socio-communicative impairments make interactions difficult. Conversely, researchers describe autistic individuals as having the capacity to positively influence research. In this paper we discuss the nature of these claims and stress the need for autism-specific modes of engagement to be developed.

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11. Huang H, Liu X, Jin Y, Lee SW, Wee CY, Shen D. Enhancing the representation of functional connectivity networks by fusing multi-view information for autism spectrum disorder diagnosis. Human brain mapping. 2018.

Functional connectivity network provides novel insights on how distributed brain regions are functionally integrated, and its deviations from healthy brain have recently been employed to identify biomarkers for neuropsychiatric disorders. However, most of brain network analysis methods utilized features extracted only from one functional connectivity network for brain disease detection and cannot provide a comprehensive representation on the subtle disruptions of brain functional organization induced by neuropsychiatric disorders. Inspired by the principles of multi-view learning which utilizes information from multiple views to enhance object representation, we propose a novel multiple network based framework to enhance the representation of functional connectivity networks by fusing the common and complementary information conveyed in multiple networks. Specifically, four functional connectivity networks corresponding to the four adjacent values of regularization parameter are generated via a sparse regression model with group constraint ( l2,1 -norm), to enhance the common intrinsic topological structure and limit the error rate caused by different views. To obtain a set of more meaningful and discriminative features, we propose using a modified version of weighted clustering coefficients to quantify the subtle differences of each group-sparse network at local level. We then linearly fuse the selected features from each individual network via a multi-kernel support vector machine for autism spectrum disorder (ASD) diagnosis. The proposed framework achieves an accuracy of 79.35%, outperforming all the compared single network methods for at least 7% improvement. Moreover, compared with other multiple network methods, our method also achieves the best performance, that is, with at least 11% improvement in accuracy.

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12. 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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13. Lai MC, Lombardo MV, Chakrabarti B, Ruigrok AN, Bullmore ET, Suckling J, Auyeung B, Happe F, Szatmari P, Baron-Cohen S. Neural self-representation in autistic women and association with ’compensatory camouflaging’. Autism : the international journal of research and practice. 2018 : 1362361318807159.

Prior work has revealed sex/gender-dependent autistic characteristics across behavioural and neural/biological domains. It remains unclear whether and how neural sex/gender differences are related to behavioural sex/gender differences in autism. Here, we examined whether atypical neural responses during mentalizing and self-representation are sex/gender-dependent in autistic adults and explored whether ’camouflaging’ (acting as if behaviourally neurotypical) is associated with sex/gender-dependent neural responses. In total, N = 119 adults (33 typically developing males, 29 autistic males, 29 typically developing females and 28 autistic females) participated in a task-related functional magnetic resonance imaging paradigm to assess neural activation within right temporo-parietal junction and ventromedial prefrontal cortex during mentalizing and self-representation. Camouflaging in autism was quantified as the discrepancy between extrinsic behaviour in social-interpersonal contexts and intrinsic status. While autistic men showed hypoactive right temporo-parietal junction mentalizing and ventromedial prefrontal cortex self-representation responses compared to typically developing men, such neural responses in autistic women were not different from typically developing women. In autistic women only, increasing camouflaging was associated with heightened ventromedial prefrontal cortex self-representation response. There is a lack of impaired neural self-representation and mentalizing in autistic women compared to typically developing women. Camouflaging is heightened in autistic women and may relate to neural self-representation response. These results reveal brain-behaviour relations that help explain sex/gender-heterogeneity in social brain function in autism.

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14. McLaren JL, Lichtenstein JD. The pursuit of the magic pill : the overuse of psychotropic medications in children with intellectual and developmental disabilities in the USA. Epidemiology and psychiatric sciences. 2018 : 1-4.

Children with intellectual and developmental disabilities (IDD) are likely to receive high-risk prescribing practices, such as polypharmacy, long-term use of psychotropic medications, and overuse of antipsychotics. Behavioural interventions, such as applied behavioural analysis, are evidence-based practices for children with IDD and should be the first-line treatment. Short-term use of psychotropic medications may be helpful in reducing the severity and frequency of challenging behaviours while evidence-based behavioural interventions are pursued. In this essay, we offer practical guidelines for better care.

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15. Roux AM, Rast JE, Shattuck PT. State-Level Variation in Vocational Rehabilitation Service Use and Related Outcomes Among Transition-Age Youth on the Autism Spectrum. Journal of autism and developmental disorders. 2018.

Employment outcomes for transition-age youth with autism spectrum disorder (TAY-ASD) following Vocational Rehabilitation (VR) services declined between 2002 and 2011 ; although a few states showed significant progress. We examined inter-state variation in VR service use and outcomes among TAY-ASD in 2014-2016, finding significant differences in the percentage of TAY-ASD who received VR services, entered VR services during secondary school, had timely development of an employment plan, and were employed at VR exit. Inter-state differences remained significant after adjusting for the influence of individual-level demographics and state-level unemployment and fiscal capacity, suggesting other factors influence variation. Future research should monitor whether changes in the VR program, via the 2014 Workforce Innovation and Opportunity Act, move the needle on VR outcomes for TAY-ASD.

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16. Sestan N, State MW. Lost in Translation : Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder. Neuron. 2018 ; 100(2) : 406-23.

Recent progress in the genomics of non-syndromic autism spectrum disorder (nsASD) highlights rare, large-effect, germline, heterozygous de novo coding mutations. This distinguishes nsASD from later-onset psychiatric disorders where gene discovery efforts have predominantly yielded common alleles of small effect. These differences point to distinctive opportunities for clarifying the neurobiology of nsASD and developing novel treatments. We argue that the path ahead also presents key challenges, including distinguishing human pathophysiology from the potentially pleiotropic neurobiology mediated by established risk genes. We present our view of some of the conceptual limitations of traditional studies of model organisms, suggest a strategy focused on investigating the convergence of multiple nsASD genes, and propose that the detailed characterization of the molecular and cellular landscapes of developing human brain is essential to illuminate disease mechanisms. Finally, we address how recent advances are leading to novel strategies for therapeutics that target various points along the path from genes to behavior.

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17. Sharda M, Tuerk C, Chowdhury R, Jamey K, Foster N, Custo-Blanch M, Tan M, Nadig A, Hyde K. Music improves social communication and auditory-motor connectivity in children with autism. Translational psychiatry. 2018 ; 8(1) : 231.

Music has been identified as a strength in people with Autism Spectrum Disorder ; however, there is currently no neuroscientific evidence supporting its benefits. Given its universal appeal, intrinsic reward value and ability to modify brain and behaviour, music may be a potential therapeutic aid in autism. Here we evaluated the neurobehavioural outcomes of a music intervention, compared to a non-music control intervention, on social communication and brain connectivity in school-age children (ISRCTN26821793). Fifty-one children aged 6-12 years with autism were randomized to receive 8-12 weeks of music (n = 26) or non-music intervention (n = 25). The music intervention involved use of improvisational approaches through song and rhythm to target social communication. The non-music control was a structurally matched behavioural intervention implemented in a non-musical context. Groups were assessed before and after intervention on social communication and resting-state functional connectivity of fronto-temporal brain networks. Communication scores were higher in the music group post-intervention (difference score = 4.84, P = .01). Associated post-intervention resting-state brain functional connectivity was greater in music vs. non-music groups between auditory and subcortical regions (z = 3.94, P < .0001) and auditory and fronto-motor regions (z = 3.16, P < .0001). Post-intervention brain connectivity was lower between auditory and visual regions in the music compared to the non-music groups, known to be over-connected in autism (z = 4.01, P < .00001). Post-intervention brain connectivity in the music group was related to communication improvement (z = 3.57, P < .0001). This study provides the first evidence that 8-12 weeks of individual music intervention can indeed improve social communication and functional brain connectivity, lending support to further investigations of neurobiologically motivated models of music interventions in autism.

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18. Tybor DJ, Eliasziw M, Kral TVE, Segal M, Sherwood NE, Sikich L, Stanish H, Bandini L, Curtin C, Must A. Parental concern regarding obesity in children with autism spectrum disorder in the United States : National Survey of Children’s Health 2016. Disability and health journal. 2018.

BACKGROUND : The prevalence of obesity in children with autism spectrum disorder (ASD) exceeds that of the general population, but the level of parental concern about obesity in these children is unexplored. OBJECTIVE : We estimate the prevalence of obesity in children 10-17 years in the redesigned National Survey of Children’s Health (NSCH) 2016, and compare parental concern about obesity between parents of children with and without ASD. METHODS : The nationally representative NSCH 2016 oversampled parents of children with parent-report of special health care needs, including ASD. Parents opted to complete the survey via the web or surface mail. Following report of their child’s height and weight, parents were asked "Are you concerned about their weight ?" Response options included : "Yes, it’s too high," "Yes, it’s too low," or "No, I am not concerned." Obesity (>95th percentile BMI) was defined using the 2000 CDC growth reference. We used logistic regression to compare odds of obesity, and odds of parental concern, between children with and without ASD. RESULTS : In 24,251 children, ASD (n=699) increased obesity risk after adjusting for age, sex, and race/ethnicity (OR=1.54, 95%CI : 1.11, 2.14). ASD medication did not significantly affect obesity. ASD increased obesity concern (OR=2.17, 95%CI : 1.53, 4.81) among parents with obese children. Parents of boys with obesity and ASD had less obesity concern if he was taking medication for ASD (OR=0.258, 95%CI : 0.09, 0.78). CONCLUSION : While the prevalence of obesity is elevated in children with ASD, parental obesity concern is high, suggesting opportunities for the development of parent-focused obesity prevention and treatment interventions for this population.

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