Pubmed du 23/01/20

jeudi 23 janvier 2020

1. Arwert TG, Sizoo BB. Self-reported Suicidality in Male and Female Adults with Autism Spectrum Disorders : Rumination and Self-esteem. J Autism Dev Disord ;2020 (Jan 21)

Rumination and low self-esteem are associated with suicidality, and with autism spectrum disorders (ASD). However, rumination and self-esteem in relation to suicidality in adults with ASD have not been examined. This cross-sectional study (n = 75 ; 46 males and 29 females) investigates the relation of rumination and self-esteem to the absence/presence of suicidal ideation (SUIC+/-), history of attempted suicide (HAS), and severity of suicidality. Multivariate analysis of variance showed that self-esteem was significantly associated with SUIC+/-, whereas rumination was significantly associated with HAS. Multiple regression analysis showed that rumination and self-esteem were independently associated with severity of suicidality, but these lose their significant contribution, when statistically controlling for depression. The prevalence of suicidal ideation was 66.6% ; gender was not a significant factor.

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2. Cukier S, Barrios N. [Pharmacological interventions for intellectual disability and autism]. Vertex ;2019 (Jan-Feb) ;Xxx(143):52-63.

No medication has been proven effective in treating core characteristics of intellectual disability or autism. Psychotropic medications are frequently used to target psychiatric symptoms in children, adolescents and adults with developmental conditions, despite the little evidence for their efficacy. This article aimed to summarize current evidence on efficacy of pharmacological interventions for the most frequent symptoms and disorders associated to autism and to intellectual disability. And also, novel molecules being studied for core symptoms of these conditions. Electronic databases were searched and supplemented with a hand search. Data were described narratively prioritizing meta-analysis and randomized controlled trials but considering also open label trials and preliminary studies. The main conclusions were that only few drugs showed efficacy for reducing psychiatric symptoms associated to these developmental conditions, mainly risperidone and aripiprazole to treat irritability and methylphenidate and atomoxetine for hyperactivity and attention deficit. Evidence is inconclusive regarding the effectiveness of other drug groups. Novel therapeutic agents showed mixed results and quality of evidence is low ; some of these agents aim at biologically targeted pharmacotherapy, which may lead to successful individualized treatment options in the future. To this day, clinicians should use pharmacotherapy with caution, carefully weighing risks and benefits, and as a part of a comprehensive personalized approach.

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3. Ehrenreich-May J, Simpson G, Stewart LM, Kennedy SM, Rowley AN, Beaumont A, Alessandri M, Storch EA, Laugeson EA, Frankel FD, Wood JJ. Treatment of anxiety in older adolescents and young adults with autism spectrum disorders : A pilot study. Bull Menninger Clin ;2020 (Jan 22):1-32.

Anxiety disorders are commonly comorbid in adolescents and young adults with high-functioning autism. Cognitive-behavioral treatments (CBT) for anxiety, when adapted and expanded to target autism spectrum disorder (ASD) characteristics, may be beneficial, but there is minimal evidence to guide clinicians in their application. This multiple-baseline design study evaluated the initial efficacy of a CBT protocol adapted to address anxiety symptoms and adaptive functioning in this population. Anxiety and ASD symptoms were assessed for six participants at intake, after baseline, posttreatment, and at 1-month follow-up. Parent-and child-reported anxiety was also assessed during baseline and treatment. Visual inspection and reliable change index scores were used to evaluate change. All participants improved on clinician-rated measures of disorder severity, and gains were maintained at follow-up. Results were more equivocal for parent-and self-rated anxiety and parent-rated ASD, partly because of spontaneous changes during baseline.

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4. Ferguson EF, Nahmias AS, Crabbe S, Liu T, Mandell DS, Parish-Morris J. Social language opportunities for preschoolers with autism : Insights from audio recordings in urban classrooms. Autism ;2020 (Jan 22):1362361319894835.

LAY ABSTRACT : Early intervention is important for preschoolers on the autism spectrum, but little is known about early intervention classrooms in the community. This study found that children with better language skills and lower autism severity have more verbal interactions with their classmates, especially in classrooms with typically developing peers (inclusion settings). Findings suggest that natural language sampling is a useful method for characterizing autistic children and their early intervention settings. In addition, natural language sampling may have important implications for understanding individual opportunities for development in community early intervention settings.

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5. Greene CM, Suess E, Kelly Y. Autistic Traits Do Not Affect Emotional Face Processing in a General Population Sample. J Autism Dev Disord ;2020 (Jan 21)

It has been suggested that atypical emotional face processing strategies observed in autism may extend in milder form to the general population. We investigated the relationship between autistic traits (AT) and gaze behaviour in a neurotypical adult sample. Novel naturalistic videos featuring happy, fearful and neutral faces were first validated in a sample of 22 participants. A separate sample of participants (N = 67) then viewed the three videos in counterbalanced order. Eye-tracking data showed that participants looked longer at emotional than neutral faces, and exploration of facial features varied with emotional condition. AT did not influence viewing patterns, time to first fixation or number of early fixations. We conclude that AT in the general population do not affect visual processing of emotional faces.

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6. Kerns CM, Winder-Patel B, Iosif AM, Nordahl CW, Heath B, Solomon M, Amaral DG. Clinically Significant Anxiety in Children with Autism Spectrum Disorder and Varied Intellectual Functioning. J Clin Child Adolesc Psychol ;2020 (Jan 23):1-16.

Objective : To evaluate how distinct presentations of anxiety symptoms and intellectual impairment influence the measurement and estimated rate of clinically significant anxiety in autism spectrum disorder (ASD).Method : The sample included 75 children (ages 9-13 years) with ASD and varied IQ and 52 typically developing (TD) controls and parents. Parents completed anxiety symptom scales and a diagnostic interview, designed to (1) differentiate anxiety and ASD and (2) examine DSM-specified and unspecified ("distinct") anxiety presentations in each child, including fears of change, special interests, idiosyncratic stimuli and social confusion rather than evaluation. Children completed standard intellectual and ASD diagnostic assessments.Results : 69% of those with ASD had clinically-significant anxiety, including 21% DSM-specified anxiety disorders, 17% distinct anxiety, and 31% both. Only 8% of TD children had clinically-significant anxiety, all DSM-specified. DSM-specified anxiety disorders in children with ASD and intellectual impairment (IQ<70) were predominantly specific phobias. DSM-specified anxiety other than specific phobia was significantly less common in children with, versus without, intellectual impairment ; this was not the case for distinct anxiety. The sensitivities of anxiety scales were moderate to poor, particularly in cases with intellectual impairment.Conclusions : ASD is associated with more frequent and varied presentations of clinical anxiety, which may align with and differ from the specified anxiety disorders of the DSM. Standard parent report anxiety scales have reduced sensitivity to detect clinical anxiety in ASD, particularly in children with intellectual impairment.

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7. Labonne JDJ, Driessen TM, Harris ME, Kong IK, Brakta S, Theisen J, Sangare M, Layman LC, Kim CH, Lim J, Kim HG. Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31. J Clin Med ;2020 (Jan 19) ;9(1)

We report a genomic and phenotypic delineation for two chromosome regions with candidate genes for syndromic intellectual disability at 12q12 and Xp22.31, segregating independently in one family with four affected members. Fine mapping of three affected members, along with six unreported small informative CNVs, narrowed down the candidate chromosomal interval to one gene LRRK2 at 12q12. Expression studies revealed high levels of LRRK2 transcripts in the whole human brain, cerebral cortex and hippocampus. RT-qPCR assays revealed that LRRK2 transcripts were dramatically reduced in our microdeletion patient DGDP289A compared to his healthy grandfather with no deletion. The decreased expression of LRRK2 may affect protein-protein interactions between LRRK2 and its binding partners, of which eight have previously been linked to intellectual disability. These findings corroborate with a role for LRRK2 in cognitive development, and, thus, we propose that intellectual disability and autism, displayed in the 12q12 microdeletions, are likely caused by LRRK2. Using another affected member, DGDP289B, with a microdeletion at Xp22.31, in this family, we performed the genomic and clinical delineation with six published and nine unreported cases. We propose HDHD1 and PNPLA4 for X-linked intellectual disability in this region, since their high transcript levels in the human brain substantiate their role in intellectual functioning.

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8. Snyder W, Troiani V. Behavioural profiling of autism connectivity abnormalities. BJPsych Open ;2020 (Jan 22) ;6(1):e11.

BACKGROUND : Brain regions are functionally diverse, and a given region may engage in a variety of tasks. This functional diversity of brain regions may be one factor that has prevented the finding of consistent biomarkers for brain disorders such as autism spectrum disorder (ASD). Thus, methods to characterise brain regions would help to determine how functional abnormalities contribute to affected behaviours. AIMS : As the first illustration of the meta-analytic behavioural profiling procedure, we evaluated how the regions with disrupted connectivity in ASD contributed to various behaviours. METHOD : Connectivity abnormalities were determined from a published degree centrality group comparison based on functional magnetic resonance imaging data from the Autism Brain Imaging Data Exchange. Using BrainMap’s database of task-based neuroimaging studies, behavioural profiles were created for abnormally connected regions by relating these regions to tasks activating them. RESULTS : Hyperconnectivity in ASD brains was significantly related to memory, attention, reasoning, social, execution and speech behaviours. Hypoconnectivity was related to vision, execution and speech behaviours. CONCLUSIONS : The procedure outlines the first clinical neuroimaging application of a behavioural profiling method that estimates the functional diversity of brain regions, allowing for the relation of abnormal functional connectivity to diagnostic criteria. Behavioural profiling and the computational insights it provides can facilitate better understanding of the functional manifestations of various disorders, including ASD.

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9. Stahlhut M, Downs J, Wong K, Bisgaard AM, Nordmark E. Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome. Phys Ther ;2020 (Jan 23) ;100(1):168-179.

BACKGROUND : Girls and women with Rett Syndrome (RTT) have low levels of daily physical activity and high levels of sedentary time. Reducing sedentary time and enhancing "uptime" activities, such as standing and walking, could be an important focus for interventions to address long-term health and quality of life in RTT. OBJECTIVE : The aim of the study was to evaluate the feasibility and health-related effects of an individualized 12-week uptime participation (U-PART) intervention in girls and women with RTT. DESIGN : The study used a single-group pretest-posttest design with 4 assessments (2 baseline, postintervention, and follow-up). METHODS : A participation-based intervention employing a whole-day approach was used. During a 12-week intervention period, individualized programs focused on participation in enjoyable uptime activities in home, school/day center, and community settings. Feasibility was assessed with a study-specific questionnaire. Primary outcome measures were sedentary time and daily step count. Secondary outcomes were gross motor skills, walking capacity, quality of life, and goal attainment scaling. RESULTS : Fourteen girls and women who were 5 to 48 years old and had RTT participated. The U-PART intervention was perceived as feasible by caregivers. Similar scores were observed at baseline assessments in all outcomes. Positive effects with small to medium effect sizes (0.27-0.54) were seen in sedentary time (- 4%), daily step count (+ 689 steps/d), walking capacity (+ 18.8 m), quality of life (+ 2.75 points), and goal attainment scaling after the intervention. Positive effects were maintained in sedentary time (- 3.2%) and walking capacity (+ 12.1 m) at short-term follow-up. LIMITATIONS : This study was limited by the lack of a control group. However, participants acted as their own control, and the stable baseline period partially mitigated this issue. CONCLUSIONS : The U-PART intervention was found to be feasible and effective in the short term in girls and women with RTT.

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10. Vagnetti R, Pino MC, Masedu F, Peretti S, Le Donne I, Rossi R, Valenti M, Mazza M. Exploring the social cognition network in young adults with autism spectrum disorder using graph analysis. Brain Behav ;2020 (Jan 23):e01524.

BACKGROUND : Autism spectrum disorder (ASD) is characterized by an impairment in social cognition (SC). SC is a cognitive construct that refers to the capacity to process information about social situations. It is a complex network that includes distinct components. Exploring how SC components work together leads to a better understanding of how their interactions promote adequate social functioning. Our main goal was to use a novel statistical method, graph theory, to analyze SC relationships in ASD and Typically Developing (TD) individuals. METHODS : We applied graph theory to SC measures to verify how the SC components interact and to establish which of them are important within the interacting SC network for TD and ASD groups. RESULTS : The results showed that, in the TD group, the SC nodes are connected ; their network showed increased betweenness among nodes, especially for the Theory of Mind. By contrast, in the SC network in the ASD group the nodes are highly disconnected, and the efficient connection among the components is absent. CONCLUSION : ASD adults do not show SC competencies and functional communication among these skills. Under this regard, specific components are crucial, suggesting they could represent critical domains for ASD SC.

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