Pubmed du 09/03/20

lundi 9 mars 2020

1. Byrge L, Kennedy DP. Accurate prediction of individual subject identity and task, but not autism diagnosis, from functional connectomes. Hum Brain Mapp ;2020 (Mar 9)

Despite enthusiasm about the potential for using fMRI-based functional connectomes in the development of biomarkers for autism spectrum disorder (ASD), the literature is full of negative findings-failures to distinguish ASD functional connectomes from those of typically developing controls (TD)-and positive findings that are inconsistent across studies. Here, we report on a new study designed to either better differentiate ASD from TD functional connectomes-or, alternatively, to refine our understanding of the factors underlying the current state of affairs. We scanned individuals with ASD and controls both at rest and while watching videos with social content. Using multiband fMRI across repeat sessions, we improved both data quantity and scanning duration by collecting up to 2 hr of data per individual. This is about 50 times the typical number of temporal samples per individual in ASD fcMRI studies. We obtained functional connectomes that were discriminable, allowing for near-perfect individual identification regardless of diagnosis, and equally reliable in both groups. However, contrary to what one might expect, we did not consistently or robustly observe in the ASD group either reductions in similarity to TD functional connectivity (FC) patterns or shared atypical FC patterns. Accordingly, FC-based predictions of diagnosis group achieved accuracy levels around chance. However, using the same approaches to predict scan type (rest vs. video) achieved near-perfect accuracy. Our findings suggest that neither the limitations of resting state as a "task," data resolution, data quantity, or scan duration can be considered solely responsible for failures to differentiate ASD from TD functional connectomes.

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2. Coutelle R, Goltzene MA, Bizet E, Schoenberger M, Berna F, Danion JM. Self-concept Clarity and Autobiographical Memory Functions in Adults with Autism Spectrum Disorder Without Intellectual Deficiency. J Autism Dev Disord ;2020 (Mar 7)

The structural characteristics of self-concept refer to the way in which the elements of self-knowledge are organized and can be experienced by individuals in the form of self-concept clarity. It is intimately linked to autobiographical memory. Therefore, we sought to compare self-concept clarity and autobiographical memory between adults with ASD without Intellectual Deficiency and controls. We also explored the association between self-concept clarity and autistic traits, autobiographical memory functions and executive functions. Statistical analyses were performed using Bayesian methods. Our results showed both a lower clarity of self-concept and a lower social function of autobiographical memory in the ASDwID than in the control group. We also presented a link between clarity of self-concept and the self-function of autobiographical memory.

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3. Driscoll K, Schonberg M, Stark MF, Carter AS, Hirshfeld-Becker D. Family-Centered Cognitive Behavioral Therapy for Anxiety in Very Young Children with Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Mar 7)

To address the paucity of cognitive-behavioral therapy (CBT) protocols available to treat anxiety in preschoolers with ASD, we piloted a family-centered CBT protocol in a series of 16 children aged 3-7 years with ASD and anxiety disorders and explored its feasibility and efficacy. Children were assessed at baseline, post-treatment (PT), and 4-month follow-up (FU) using diagnostic interviews and parent questionnaires. Fourteen children completed at least 10 sessions (mean 14). At PT, 81% were rated "very much-" or "much-improved" on the CGI-Anxiety. Children displayed significant decreases on clinician- and parent-rated anxiety, and improved family function and coping. Gains were maintained at FU. Parent-child CBT is feasible for young children with ASD plus anxiety that shows potential for similar efficacy as with neurotypical children.

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4. Fong VC, Gardiner E, Iarocci G. Can a combination of mental health services and ADL therapies improve quality of life in families of children with autism spectrum disorder ?. Qual Life Res ;2020 (Mar 7)

PURPOSE : Due to the nature and complexity of autism spectrum disorder (ASD), which typically requires coordination among various treatments targeting different areas of need, the entire family is impacted. Family quality of life (FQOL) research has emerged to address the range of adaptation families experience when raising a child with ASD. One factor that is likely to impact FQOL relates to families’ service use to support their child’s needs. The goal of the present study was to examine the relations between specific domains of FQOL and service usage type among families of children with ASD. METHODS : A total of 164 caregivers of children diagnosed with ASD were asked which autism services they were currently using and completed the Beach Center Family Quality of Life Scale and the Nisonger Child Behaviour Rating Form. RESULTS : Findings revealed that service usage type significantly predicted families’ satisfaction with their emotional well-being, physical/material well-being, and disability-related support. Specifically, families using a combination of mental health services and ADL therapies reported greater satisfaction in these FQOL domains. CONCLUSION : Present findings underscore that families need access to a sufficiently broad range of child services and supports in order to benefit their FQOL.

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5. Granadillo JL, A PAS, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, S MA, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. J Med Genet ;2020 (Mar 9)

BACKGROUND : Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes a protein important for RNA silencing. Heterozygous truncating variants have been reported in three patients from large cohorts with autism, but no full phenotypic characterisation was described. METHODS : Clinical and molecular characterisation was performed on 17 patients with TNRC6B variants. Clinical data were obtained by retrospective chart review, parent interviews, direct patient interaction with providers and formal neuropsychological evaluation. RESULTS : Clinical findings included DD/ID (17/17) (speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17) of subjects), autism or autistic traits (13/17), attention deficit and hyperactivity disorder (ADHD) (11/17), other behavioural problems (7/17) and musculoskeletal findings (12/17). Other congenital malformations or clinical findings were occasionally documented. The majority of patients exhibited some dysmorphic features but no recognisable gestalt was identified. 17 heterozygous TNRC6B variants were identified in 12 male and five female unrelated subjects by exome sequencing (14), a targeted panel (2) and a chromosomal microarray (1). The variants were nonsense (7), frameshift (5), splice site (2), intragenic deletions (2) and missense (1). CONCLUSIONS : Variants in TNRC6B cause a novel genetic disorder characterised by recurrent neurocognitive and behavioural phenotypes featuring DD/ID, autism, ADHD and other behavioural abnormalities. Our data highly suggest that haploinsufficiency is the most likely pathogenic mechanism. TNRC6B should be added to the growing list of genes of the RNA-induced silencing complex associated with ID/DD, autism and ADHD.

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6. Hadoush H, Nazzal M, Almasri NA, Khalil H, Alafeef M. Therapeutic Effects of Bilateral Anodal Transcranial Direct Current Stimulation on Prefrontal and Motor Cortical Areas in Children with Autism Spectrum Disorders : A Pilot Study. Autism Res ;2020 (Mar 9)

Dysfunctional frontal cortical areas associated with clinical features are observed in children with autism spectrum disorder (ASD). This study attempted to identify any potential therapeutic effects of bilateral anodal transcranial direct current stimulation (tDCS) applied over the left and right prefrontal and motor areas on the clinical characteristics of children with ASD. Fifty children with confirmed ASD medical diagnoses were divided equally and randomly into a tDCS treatment group and a control group. The tDCS treatment group underwent 10 sessions (20-min durations, five per week) of bilateral anodal tDCS stimulation applied simultaneously over the left and right prefrontal and motor areas, whereas the control group underwent the same procedures but with the use of sham tDCS stimulation. Total scores and sub-scores of autism treatment evaluation checklist (ATEC) (language and communication ; sociability ; sensory awareness ; and behavioral, health, and physical conditions) were measured before and after the tDCS treatment sessions of both groups. There were significant decreases in total ATEC scores (P = 0.014), sociability sub-scores (P = 0.021), and behavioral, health, and physical condition sub-scores (P = 0.011) in the tDCS treatment group. No significant changes were observed in total ATEC scores and sub-scores in the control group. In conclusion, compared to the control group, bilateral anodal tDCS showed potential therapeutic effects on children with ASD in terms of improvements in sociability, behavior, health, and physical conditions with no reported side effects. LAY SUMMARY : Dysfunctional frontal cortical areas are associated with clinical features in children with autism spectrum disorder (ASD). Transcranial direct current stimulation (tDCS) is found to be a safe, noninvasive method to stimulate cortical regions and thus have therapeutic effects on children with ASD. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.

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7. Jahan S, Araf K, Griffiths MD, Gozal D, Mamun MA. Depression and suicidal behaviors among Bangladeshi mothers of children with Autism Spectrum Disorder : A comparative study. Asian J Psychiatr ;2020 (Feb 27) ;51:101994.

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8. Jensen M, Smolen C, Girirajan S. Gene discoveries in autism are biased towards comorbidity with intellectual disability. J Med Genet ;2020 (Mar 9)

BACKGROUND : Autism typically presents with highly heterogeneous features, including frequent comorbidity with intellectual disability (ID). The overlap between these phenotypes has confounded the diagnosis and discovery of genetic factors associated with autism. We analysed pathogenic de novo genetic variants in individuals with autism who had either ID or normal cognitive function to determine whether genes associated with autism also contribute towards ID comorbidity. METHODS : We analysed 2290 individuals from the Simons Simplex Collection for de novo likely gene-disruptive (LGD) variants and copy-number variants (CNVs), and determined their relevance towards IQ and Social Responsiveness Scale (SRS) measures. RESULTS : Individuals who carried de novo variants in a set of 173 autism-associated genes showed an average 12.8-point decrease in IQ scores (p=5.49x10(-6)) and 2.8-point increase in SRS scores (p=0.013) compared with individuals without such variants. Furthermore, individuals with high-functioning autism (IQ >100) had lower frequencies of de novo LGD variants (42 of 397 vs 86 of 562, p=0.021) and CNVs (9 of 397 vs 24 of 562, p=0.065) compared with individuals who manifested both autism and ID (IQ <70). Pathogenic variants disrupting autism-associated genes conferred a 4.85-fold increased risk (p=0.011) for comorbid ID, while de novo variants observed in individuals with high-functioning autism disrupted genes with little functional relevance towards neurodevelopment. CONCLUSIONS : Pathogenic de novo variants disrupting autism-associated genes contribute towards autism and ID comorbidity, while other genetic factors are likely to be causal for high-functioning autism.

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9. Liu X, Huang H. Alterations of functional connectivities associated with autism spectrum disorder symptom severity : a multi-site study using multivariate pattern analysis. Sci Rep ;2020 (Mar 9) ;10(1):4330.

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder. The estimation of ASD severity is very important in clinical practice due to providing a more elaborate diagnosis. Although several studies have revealed some resting-state functional connectivities (RSFCs) that are related to the ASD severity, they have all been based on small-sample data and local RSFCs. The aim of the present study is to adopt multivariate pattern analysis to investigate a subset of connectivities among whole-brain RSFCs that are more contributive to ASD severity estimation based on large-sample data. Regression estimation shows a Pearson correlation value of 0.5 between the estimated and observed severity, with a mean absolute error of 1.41. The results provide obvious evidence that some RSFCs undergo notable alterations with the severity of ASD. More importantly, these selected RSFCs have an abnormality in the connection modes of the inter-network and intra-network connections. In addition, these selected abnormal RSFCs are mainly associated with the sensorimotor network, the default mode network, and inter-hemispheric connectivities, while exhibiting significant left hemisphere lateralization. Overall, this study indicates that some RSFCs suffer from abnormal alterations in patients with ASD, providing additional evidence of large-scale functional network alterations in ASD.

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10. Mazurek MO, Parker RA, Chan J, Kuhlthau K, Sohl K. Effectiveness of the Extension for Community Health Outcomes Model as Applied to Primary Care for Autism : A Partial Stepped-Wedge Randomized Clinical Trial. JAMA Pediatr ;2020 (Mar 9):e196306.

Importance : The Extension for Community Health Outcomes (ECHO) model is a widely adopted technology-based model for training primary care physicians and practitioners (PCPs) to care for patients with complex conditions. Despite its popularity, to our knowledge, direct effects of ECHO on clinical practice have not been tested in a large-scale study. Objective : To test the effectiveness of the ECHO model as applied to primary care for autism and whether it resulted in improved clinical practice, knowledge, and self-efficacy regarding autism screening and comorbidity management. Design, Setting, and Participants : Primary care physicians and practitioners were recruited to participate in a 6-month ECHO Autism program delivered by 1 of 10 academic medical center sites. A sequential, staggered rollout of ECHO Autism was delivered to 5 cohorts of participants (15 per site ; 2 sites per cohort). Sites were randomized after recruitment to cohort/start time. Cohorts launched every 3 months. The ECHO Autism program used videoconferencing technology to connect community-based PCPs with interdisciplinary expert teams at academic medical centers. There were 148 participants (PCPs [family practice physicians, pediatricians, nurse practitioners, and physician assistants] providing outpatient services to underserved children) studied between December 2016 and November 2018. Interventions : The 6-month ECHO Autism program included twelve 2-hour sessions connecting PCP participants with an interdisciplinary expert team. Sessions included didactics, case-based learning, guided practice, and discussion. Main Outcomes and Measures : Coprimary outcomes were autism screening practices and comorbidity management (assessed by medical record review). Secondary outcomes were knowledge (assessed by direct testing) and self-efficacy (assessed by self-report survey). Assessments were conducted at baseline, mid-ECHO, post-ECHO, and follow-up (3 months after ECHO). Results : Ten sites were randomized to 1 of 5 cohorts. Participants were 82% female (n = 108), 76% white (n = 100), and 6% Hispanic or Latino (n = 8) ; the median age was 46 years (interquartile range, 37-55 years). Significant changes in autism screening and treatment of comorbidities in children with autism were not observed. Participants demonstrated significant improvements in knowledge (9% ; 95% CI, 4-13 ; P < .001) and self-efficacy (29% ; 95% CI, 25-32 ; P < .001). Conclusions and Relevance : The ECHO model was developed to increase access to high-quality health care for underserved patients with complex conditions. Study results provide support for the model in improving clinician knowledge and confidence but little support for achieving practice change. Trial Registration : ClinicalTrials.gov Identifier : NCT03677089.

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11. Wong CW, Wang Y, Liu T, Li L, Cheung SKK, Or PM, Cheng AS, Choy KW, Burbach JPH, Bo F, Chang RCC, Chan AM. Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line. FEBS J ;2020 (Mar 9)

Germline mutation in the PTEN gene is the genetic basis of PTEN hamartoma tumor syndrome with the affected individuals harboring features of autism spectrum disorders. Characterizing a panel of 14 autism-associated PTEN missense mutations revealed reduced protein stability, catalytic activity, and subcellular distribution. Nine out of 14 (64%) PTEN missense mutants had reduced protein expression with most mutations confined to the C2 domain. Selected mutants displayed enhanced polyubiquitination and shortened protein half-life, but that did not appear to involve the polyubiquitination sites at lysine residues at codon 13 or 289. Analyzing their intrinsic lipid phosphatase activities revealed that 78% (11 out of 14) of these mutants had 2- to 10-fold reduction in catalytic activity toward phosphatidylinositol phosphate substrates. Analyzing the subcellular localization of the PTEN missense mutants showed that 64% (9 out of 14) had altered nuclear-to-cytosol ratios with four mutants (G44D, H123Q, E157G, and D326N) showing greater nuclear localization. The E157G mutant was knocked-in to an induced pluripotent stem cell line and recapitulated a similar nuclear targeting preference. Furthermore, iPSCs expressing the E157G mutant were more proliferative at the neural progenitor cell stage but exhibited more extensive dendritic outgrowth. In summary, the combination of biological changes in PTEN is expected to contribute to the behavioral and cellular features of this neurodevelopmental disorder.

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12. Zablotsky B, Rast J, Bramlett MD, Shattuck PT. Correction to : Health Care Transition Planning Among Youth with ASD and Other Mental, Behavioral, and Developmental Disorders. Matern Child Health J ;2020 (Mar 9)

In the original publication of the article, Figure 1 included footnotes which duplicated information appearing in the figure caption. Therefore the notes of "NOTES : ASD = autism spectrum disorder ; MBDD = mental, behavioral, or developmental disorder. Indicators presented are unadjusted estimates. (x) Significantly different than youth with autism spectrum disorder based on adjusted odds ratio (p < .05). (y) Significantly different than youth with other mental, behavioral, or developmental disorders based on adjusted odds ratio (p < .05)." have been removed. The figure 1 appearing in the original version of the article has been corrected.

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