Pubmed du 02/11/19

samedi 2 novembre 2019

1. Adams JB, Borody TJ, Kang DW, Khoruts A, Krajmalnik-Brown R, Sadowsky MJ. Microbiota transplant therapy and autism : lessons for the clinic. Expert Rev Gastroenterol Hepatol ;2019 (Oct 30)

Introduction : The purpose of this review is to discuss Microbiota Transplant Therapy (MTT), a type of intensive intestinal microbiota transplantation (IMT), for people with autism spectrum disorders (ASD) and chronic gastrointestinal disorders (constipation and/or diarrhea).Areas covered : This paper briefly reviews IMT, gastrointestinal symptoms and gastrointestinal bacteria in children with ASD, and results and lessons learned from intensive MTT for autism.Expert opinion : An open-label study and a two-year follow-up suggests that MTT is relatively safe and effective in significantly reducing gastrointestinal disorders and autism symptoms, changing the gut microbiome structure, and increasing gut microbial diversity. Further research with larger, randomized, double-blind, placebo-controlled studies is warranted.

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2. Ansel A, Posen Y, Ellis R, Deutsch L, Zisman PD, Gesundheit B. Biomarkers for Autism Spectrum Disorders (ASD) : A Meta-analysis. Rambam Maimonides Med J ;2019 (Oct 29) ;10(4)

OBJECTIVE : To compare the reported accuracy and sensitivity of the various modalities used to diagnose autism spectrum disorders (ASD) in efforts to help focus further biomarker research on the most promising methods for early diagnosis. METHODS : The Medline scientific literature database was searched to identify publications assessing potential clinical ASD biomarkers. Reports were categorized by the modality used to assess the putative markers, including protein, genetic, metabolic, or objective imaging methods. The reported sensitivity, specificity, area under the curve, and overall agreement were summarized and analyzed to determine weighted averages for each diagnostic modality. Heterogeneity was measured using the I(2) test. RESULTS : Of the 71 papers included in this analysis, each belonging to one of five modalities, protein-based followed by metabolite-based markers provided the highest diagnostic accuracy, each with a pooled overall agreement of 83.3% and respective weighted area under the curve (AUC) of 89.5% and 88.3%. Sensitivity provided by protein markers was highest (85.5%), while metabolic (85.9%) and protein markers (84.7%) had the highest specificity. Other modalities showed degrees of sensitivity, specificity, and overall agreements in the range of 73%-80%. CONCLUSIONS : Each modality provided for diagnostic accuracy and specificity similar or slightly higher than those reported for the gold-standard Autism Diagnostic Observation Schedule (ADOS) instrument. Further studies are required to identify the most predictive markers within each modality and to evaluate biological pathways or clustering with possible etiological relevance. Analyses will also be necessary to determine the potential of these novel biomarkers in diagnosing pediatric patients, thereby enabling early intervention.

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3. Bremer E, Cairney J. Adaptive Behavior Moderates Health-Related Pathways in Children with Autism Spectrum Disorder. J Autism Dev Disord ;2019 (Oct 30)

The purpose of this study was to examine the moderating role of adaptive behavior on the pathways connecting motor competence, physical activity, and health-related fitness in 7-12 year old children with ASD (N = 27). Results demonstrate that motor competence and health-related fitness were positively related (r = .42, p < .05), and this relationship was moderated by adaptive behavior. Specifically, we found that motor competence and health-related fitness were significantly related for those participants scoring approximately one or more standard deviations below the mean on adaptive behavior. No other significant pathways were present. Implications of these associations and directions for future research are discussed.

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4. Camodeca A, Todd KQ, Croyle J. Utility of the Asperger Syndrome Diagnostic Scale in the Assessment of Autism Spectrum Disorders. J Autism Dev Disord ;2019 (Oct 31)

Investigated internal consistency reliability and criterion validity of the Asperger Syndrome Diagnostic Scale (ASDS) in a well-characterized sample of 120 children ([Formula : see text] = 9.91 ; autism [AUT] n = 54 ; non-autism [NOT] n = 66) who completed comprehensive outpatient evaluations with a gold-standard measure, the Autism Diagnostic Observation Schedule-2. With the exception of a low Cognitive alpha in the AUT group, internal consistency reliabilities ranged from moderate to high. Significant between-group mean differences were observed for all scores. Receiver operating characteristic analyses indicated Area Under the Curve in the fair range (.71). Cutoff points and interpretation are discussed. The ASDS appears most useful in cases of either low or high scores or as an adjuvant to gold-standard measures.

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5. Chown N, Hughes L, Baker-Rogers J. What About the Other Side of Double Empathy ? A Response to Alkhaldi, Sheppard and Mitchell’s JADD Article Concerning Mind-Reading Difficulties in Autism. J Autism Dev Disord ;2019 (Oct 31)

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6. Crehan ET, Althoff RR, Riehl H, Prelock PA, Hutchins T. Brief Report : Me, Reporting on Myself : Preliminary Evaluation of the Criterion-Related Validity of the Theory of Mind Inventory-2 when Completed by Autistic Young Adults. J Autism Dev Disord ;2019 (Oct 30)

There is a need for increased understanding of self-report measures for autistic individuals. In this preliminary study, we examine how a theory of mind self-report relates to other self-report measures for groups of autistic and neurotypical individuals, as well as eye tracking outcomes. Expected patterns of relatedness emerged between self-reports and the eye tracking findings, which lends validity to the theory of mind measure. Self-report measures are critical for autistic individuals to share their own experiences and this is the first step in establishing a theory of mind self-report tool.

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7. Eack SM. Are schizophrenia and autism spectrum disorder diametrically opposed conditions ?. Schizophr Res ;2019 (Oct 28)

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8. El-Ansary A, Zayed N, Al-Ayadhi L, Qasem H, Anwar M, Meguid NA, Bhat RS, Dosa MD, Chirumbolo S, Bjorklund G. GABA synaptopathy promotes the elevation of caspases 3 and 9 as pro-apoptotic markers in Egyptian patients with autism spectrum disorder. Acta Neurol Belg ;2019 (Oct 31)

Autism spectrum disorder (ASD) is classified as a neurodevelopmental disorder characterized by reduced social communication as well as repetitive behaviors. Many studies have proved that defective synapses in ASD influence how neurons in the brain connect and communicate with each other. Synaptopathies arise from alterations that affecting the integrity and/or functionality of synapses and can contribute to synaptic pathologies. This study investigated the GABA levels in plasma being an inhibitory neurotransmitter, caspase 3 and 9 as pro-apoptotic proteins in 20 ASD children and 20 neurotypical controls using the ELISA technique. Analysis of receiver-operating characteristic (ROC) of the data that was obtained to evaluate the diagnostic value of the aforementioned evaluated biomarkers. Pearson’s correlations and multiple regressions between the measured variables were also done. While GABA level was reduced in ASD patients, levels of caspases 3 and 9 were significantly higher when compared to neurotypical control participants. ROC and predictiveness curves showed that caspases 3, caspases 9, and GABA might be utilized as predictive markers in autism diagnosis. The present study indicates that the presence of GABAergic dysfunction promotes apoptosis in Egyptian ASD children. The obtained GABA synaptopathies and their connection with apoptosis can both relate to neuronal excitation, and imbalance of the inhibition system, which can be used as reliable predictive biomarkers for ASD.

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9. Fletcher-Watson S, Bird G. Autism and empathy : What are the real links ?. Autism ;2019 (Nov 1):1362361319883506.

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10. Fuell W, Bradley L, Richter GT, Kazemi N, Albert G, McCarthy R, Ocal E. Management of an odontoid synchondrosis fracture causing chronic translational anterior atlanto-axial subluxation in a child with autism : case report. J Neurosurg Pediatr ;2019 (Nov 1):1-4.

The authors report an unusual case of an odontoid synchondrosis fracture causing chronic translational anterior atlanto-axial subluxation and present a discussion of the unique management of this case. Traumatic translational anterior atlanto-axial subluxation is a rare manifestation within pediatrics. Patients with preexisting abnormalities in ligamentous or bony structures may present with unusual symptomatology, which could result in delay of treatment. A 6-year-old male patient with autism who presented with acute respiratory arrest was noted to have an odontoid synchondrosis fracture and severe anterior translational atlanto-axial subluxation. Initial attempts at reduction with halo traction were tried for first-line treatment. However, because of concern regarding possible inadvertent worsening of the impingement, the presence of comorbid macrocephaly, and possible instability with only C1-2 fusion, a posterior C1 laminectomy was performed. Further release of the C1-2 complex and odontoid peg from extensive fibrous tissue allowed for complete reduction. Acute injuries of the C1-2 complex may not present as expected, and the presence of pain is not a reliable symptom. Halo traction is an appropriate initial treatment, but some patients may require surgical realignment and stabilization.

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11. Giannuzzi G, Schmidt PJ, Porcu E, Willemin G, Munson KM, Nuttle X, Earl R, Chrast J, Hoekzema K, Risso D, Mannik K, De Nittis P, Baratz ED, Herault Y, Gao X, Philpott CC, Bernier RA, Kutalik Z, Fleming MD, Eichler EE, Reymond A. The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. Am J Hum Genet ;2019 (Oct 21)

Human-specific duplications at chromosome 16p11.2 mediate recurrent pathogenic 600 kbp BP4-BP5 copy-number variations, which are among the most common genetic causes of autism. These copy-number polymorphic duplications are under positive selection and include three to eight copies of BOLA2, a gene involved in the maturation of cytosolic iron-sulfur proteins. To investigate the potential advantage provided by the rapid expansion of BOLA2, we assessed hematological traits and anemia prevalence in 379,385 controls and individuals who have lost or gained copies of BOLA2 : 89 chromosome 16p11.2 BP4-BP5 deletion carriers and 56 reciprocal duplication carriers in the UK Biobank. We found that the 16p11.2 deletion is associated with anemia (18/89 carriers, 20%, p = 4e-7, OR = 5), particularly iron-deficiency anemia. We observed similar enrichments in two clinical 16p11.2 deletion cohorts, which included 6/63 (10%) and 7/20 (35%) unrelated individuals with anemia, microcytosis, low serum iron, or low blood hemoglobin. Upon stratification by BOLA2 copy number, our data showed an association between low BOLA2 dosage and the above phenotypes (8/15 individuals with three copies, 53%, p = 1e-4). In parallel, we analyzed hematological traits in mice carrying the 16p11.2 orthologous deletion or duplication, as well as Bola2(+/-) and Bola2(-/-) animals. The Bola2-deficient mice and the mice carrying the deletion showed early evidence of iron deficiency, including a mild decrease in hemoglobin, lower plasma iron, microcytosis, and an increased red blood cell zinc-protoporphyrin-to-heme ratio. Our results indicate that BOLA2 participates in iron homeostasis in vivo, and its expansion has a potential adaptive role in protecting against iron deficiency.

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12. Hornung T, Chan WH, Muller RA, Townsend J, Keehn B. Dopaminergic hypo-activity and reduced theta-band power in autism spectrum disorder : A resting-state EEG study. Int J Psychophysiol ;2019 (Oct 24)

BACKGROUND : Prior studies using a variety of methodologies have reported inconsistent dopamine (DA) findings in individuals with autism spectrum disorder (ASD), ranging from dopaminergic hypo- to hyper-activity. Theta-band power derived from scalp-recorded electroencephalography (EEG), which may be associated with dopamine levels in frontal cortex, has also been shown to be atypical in ASD. The present study examined spontaneous eye-blink rate (EBR), an indirect, non-invasive measure of central dopaminergic activity, and theta power in children with ASD to determine : 1) whether ASD may be associated with atypical DA levels, and 2) whether dopaminergic dysfunction may be associated with aberrant theta-band activation. METHOD : Participants included thirty-two children with ASD and thirty-two age-, IQ-, and sex-matched typically developing (TD) children. Electroencephalography and eye-tracking data were acquired while participants completed an eyes-open resting-state session. Blinks were counted and EBR was determined by dividing blink frequency by session duration and theta power (4-7.5Hz) was extracted from midline leads. RESULTS : Eye-blink rate and theta-band activity were significantly reduced in children with ASD as compared to their TD peers. For all participants, greater midline theta power was associated with increased EBR (related to higher DA levels). CONCLUSIONS : These results suggest that ASD may be associated with dopaminergic hypo-activity, and that this may contribute to atypical theta-band power. Lastly, EBR may be a useful tool to non-invasively index dopamine levels in ASD and could potentially have many clinical applications, including selecting treatment options and monitoring treatment response.

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13. Kaysheva AL, Stepanov AA, Kopylov AT, Butkova TV, Pleshakova T, Ryabtsev VV, Iourov IY, Vorsanova SG, Ivanov YD. Pilot data of serum proteins from children with autism spectrum disorders. Data Brief ;2019 (Dec) ;27:104558.

Protein profiles of 13 serum samples from children with autism spectrum disorders (ASD) and 11 serum samples from healthy volunteers was obtained using panoramic ultra-high resolution mass spectrometry. The analysis of measurements was performed using the proteomics search engine. We identified a group of 74 proteins which we term a "protein fingerprint" specific for serum samples collected from children with autism. Components of the protein fingerprint are involved in hemostasis maintenance including biological regulation, the response to stimulus, regulation of metabolism, and proteins of the immune system.

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14. Kim I, Dababnah S, Lee J. The Influence of Race and Ethnicity on the Relationship between Family Resilience and Parenting Stress in Caregivers of Children with Autism. J Autism Dev Disord ;2019 (Oct 30)

We examined the relationship between family resilience and parenting stress among parents of children with autism spectrum disorder, with a specific focus on race/ethnicity as a moderator. Multivariate models indicated that family resilience was associated with parenting stress. Race/ethnicity significantly moderated the relationship between family resilience and parenting stress. The effects of family resilience on parenting stress were significantly different among parents of African American, Hispanic, and white children. These effects were strongest for parents of African American children. Compared to white and Hispanic children, parents of African American children with low levels of family resilience had 60-82% higher probability of parenting stress ; while those with high levels of family resilience had 15-18% lower probability for parenting stress.

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15. Lamash L, Josman N. A metacognitive intervention model to promote independence among individuals with autism spectrum disorder : Implementation on a shopping task in the community. Neuropsychol Rehabil ;2019 (Oct 31):1-22.

Adolescents with autism spectrum disorder show low independence levels and difficulty performing complex daily activities. The many intervention approaches for these individuals include deconstructing complex activities into basic components, processing and practicing tasks, and developing compensation strategies. The aim of this study was to examine the effectiveness of a short-term metacognitive intervention combined with virtual supermarket practice to improve the independent implementation of a shopping task among adolescents with autism spectrum disorder. The study included 56 adolescents with autism spectrum disorder, of whom 33 performed the metacognitive intervention and 23 served as controls. Outcome measures included assessments of cognitive and metacognitive functions and a performance-based evaluation of a shopping task in the natural environment. Compared to the control group, the intervention group experienced significant improvement in accuracy and efficiency while performing a shopping task. In addition, the executive functions domain was found to be the main predictor of accuracy and efficiency in performing the shopping task. These findings indicate the short-term metacognitive intervention, reinforced by a technology-based training programme, may effectively enhance the independent execution of a shopping task by adolescents with autism spectrum disorder and expand their potential participation in the community.

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16. Lind SE, Williams DM, Nicholson T, Grainger C, Carruthers P. The self-reference effect on memory is not diminished in autism : Three studies of incidental and explicit self-referential recognition memory in autistic and neurotypical adults and adolescents. J Abnorm Psychol ;2019 (Oct 31)

Three experiments investigated the extent to which (a) individuals with autism show a self-reference effect (i.e., better memory for self-relevant information), and (b) the size of the self-reference effect is associated with autism traits. Participants studied trait adjectives in relation to their own name (self-referent) or a celebrity’s name (other-referent) under explicit and incidental/implicit encoding conditions. Explicit encoding involved judging whether the adjectives applied to self or other (denoted by proper names). Implicit encoding involved judging whether the adjectives were presented to the right or left of one’s own or a celebrity’s name. Recognition memory for the adjectives was tested using a yes/no procedure. Experiment 1 (individual differences ; N = 257 neurotypical adults) employed the Autism-spectrum Quotient as a measure of autistic traits. Experiments 2 (n = 60) and 3 (n = 52) involved case-control designs with closely matched groups of autistic and neurotypical adults and children/adolescents, respectively. Autistic traits were measured using the Autism-spectrum Quotient and Social Responsiveness Scale, respectively. In all experiments, a significant self-reference effect was observed in both explicit and implicit encoding conditions. Most importantly, however, there was (a) no significant relation between size of the self-reference effect and number of autistic traits (Experiments 1, 2, and 3), and (b) no significant difference in the size of the self-reference effect between autistic and neurotypical participants (Experiments 2 and 3). In these respects, Bayesian analyses consistently suggested that the data supported the null hypothesis. These results challenge the notion that subjective or objective self-awareness are impaired in autism. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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17. Maddox BB, Crabbe S, Beidas RS, Brookman-Frazee L, Cannuscio CC, Miller JS, Nicolaidis C, Mandell DS. "I wouldn’t know where to start" : Perspectives from clinicians, agency leaders, and autistic adults on improving community mental health services for autistic adults. Autism ;2019 (Nov 1):1362361319882227.

Most autistic adults struggle with mental health problems, and traditional mental health services generally do not meet their needs. This study used qualitative methods to identify ways to improve community mental health services for autistic adults for treatment of their co-occurring psychiatric conditions. We conducted semistructured, open-ended interviews with 22 autistic adults with mental healthcare experience, 44 community mental health clinicians, and 11 community mental health agency leaders in the United States. The participants identified clinician-, client-, and systems-level barriers and facilitators to providing quality mental healthcare to autistic adults. Across all three stakeholder groups, most of the reported barriers involved clinicians’ limited knowledge, lack of experience, poor competence, and low confidence working with autistic adults. All three groups also discussed the disconnect between the community mental health and developmental disabilities systems, which can result in autistic adults being turned away from services when they contact the mental health division and disclose their autism diagnosis during the intake process. Further efforts are needed to train clinicians to work more effectively with autistic adults and to increase coordination between the mental health and developmental disabilities systems.

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18. Maddox BB, Gaus VL. Community Mental Health Services for Autistic Adults : Good News and Bad News. Autism Adulthood ;2019 (Mar 11) ;1(1):15-19.

Many autistic adults experience psychiatric conditions such as anxiety and depression. However, autistic adults often do not receive effective and affordable mental health (MH) treatment. Untreated psychiatric conditions in autistic adults are associated with a host of negative outcomes, including adaptive functioning impairments, difficulties with employment and independent living, and poor quality of life. The purpose of this Perspectives piece is to shed light on the current state of community MH services in the United States for autistic adults with co-occurring psychiatric conditions. Drawing on the available research and clinical experiences, we aim to (1) highlight positive developments in community mental healthcare for autistic adults ; (2) summarize the barriers that continue to exist for autistic adults in need of MH services ; and (3) provide recommendations for autistic adults and their families, community MH clinicians, and MH systems administrators to consider. Significant work is needed to provide autistic adults with affordable quality MH services. This Perspectives piece presents a summary of the needed changes and specific methods to continue to improve community MH services for autistic adults.

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19. Moaaz M, Youssry S, Elfatatry A, El Rahman MA. Th17/Treg cells imbalance and their related cytokines (IL-17, IL-10 and TGF-beta) in children with autism spectrum disorder. J Neuroimmunol ;2019 (Oct 23) ;337:577071.

We aimed in this study to investigate a possible involvement of Th17/Treg cells imbalance in autism spectrum disorders (ASD). Using flowcytometry to determine circulating Th17 and Treg cells percentages, RT- PCR and ELISA for cytokine expression, we demonstrated that Th17/Treg balance in ASD children was significantly skewed toward a Th17 response compared to their control. Th17 cells and the ratio of Th17/Treg cells had a significantly positive correlation with disease severity whereas Treg cells had a negative correlation. The imbalance of Th17, Treg cells and their related cytokines may play a vital role in the progression of the disease.

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20. Mordaunt CE, Park BY, Bakulski KM, Feinberg JI, Croen LA, Ladd-Acosta C, Newschaffer CJ, Volk HE, Ozonoff S, Hertz-Picciotto I, LaSalle JM, Schmidt RJ, Fallin MD. A meta-analysis of two high-risk prospective cohort studies reveals autism-specific transcriptional changes to chromatin, autoimmune, and environmental response genes in umbilical cord blood. Mol Autism ;2019 ;10:36.

Background : Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects more than 1% of children in the USA. ASD risk is thought to arise from both genetic and environmental factors, with the perinatal period as a critical window. Understanding early transcriptional changes in ASD would assist in clarifying disease pathogenesis and identifying biomarkers. However, little is known about umbilical cord blood gene expression profiles in babies later diagnosed with ASD compared to non-typically developing and non-ASD (Non-TD) or typically developing (TD) children. Methods : Genome-wide transcript levels were measured by Affymetrix Human Gene 2.0 array in RNA from cord blood samples from both the Markers of Autism Risk in Babies-Learning Early Signs (MARBLES) and the Early Autism Risk Longitudinal Investigation (EARLI) high-risk pregnancy cohorts that enroll younger siblings of a child previously diagnosed with ASD. Younger siblings were diagnosed based on assessments at 36 months, and 59 ASD, 92 Non-TD, and 120 TD subjects were included. Using both differential expression analysis and weighted gene correlation network analysis, gene expression between ASD and TD, and between Non-TD and TD, was compared within each study and via meta-analysis. Results : While cord blood gene expression differences comparing either ASD or Non-TD to TD did not reach genome-wide significance, 172 genes were nominally differentially expressed between ASD and TD cord blood (log2(fold change) > 0.1, p < 0.01). These genes were significantly enriched for functions in xenobiotic metabolism, chromatin regulation, and systemic lupus erythematosus (FDR q < 0.05). In contrast, 66 genes were nominally differentially expressed between Non-TD and TD, including 8 genes that were also differentially expressed in ASD. Gene coexpression modules were significantly correlated with demographic factors and cell type proportions. Limitations : ASD-associated gene expression differences identified in this study are subtle, as cord blood is not the main affected tissue, it is composed of many cell types, and ASD is a heterogeneous disorder. Conclusions : This is the first study to identify gene expression differences in cord blood specific to ASD through a meta-analysis across two prospective pregnancy cohorts. The enriched gene pathways support involvement of environmental, immune, and epigenetic mechanisms in ASD etiology.

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21. Mostert-Kerckhoffs MAL, Willems AE, Tenback DE, Koning JP, Van Harten P, Staal WG. Motor Disturbance in ASD : A Pilot Study Showing Hypokinetic Behavior ?. J Autism Dev Disord ;2019 (Oct 31)

Data supporting theoretical models linking autism spectrum disorders (ASD) to motor disturbance are inconclusive. In the present study, children and adolescents with ASD (n = 44) were compared with a matched group of typically developing individuals (n = 49) on both instrumental and observational assessments of motor abnormalities. No group differences were found in the instrumental data. However, more bradykinetic motor behavior was found using an observational scale in the ASD groups. More rigid motor behavior was found in the adolescents with ASD but not in the children. Individuals with ASD show significantly more hypokinetic behavior, which may not be strictly dopaminergic in origin, but may reflect a weak central coherency in neuronal networks related to the motor system in which developmental changes are present.

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22. Ogawa S, Iriguchi M, Lee YA, Yoshikawa S, Goto Y. Atypical Social Rank Recognition in Autism Spectrum Disorder. Sci Rep ;2019 (Oct 30) ;9(1):15657.

Social animals, including humans, structure social groups where social hierarchy exists. Recognizing social rank of other group members is a crucial ability to subsist in such environments. Here we show preliminary evidence with a relatively small number of samples that children with autism spectrum disorder, a neurodevelopmental disorder involving social dysfunction, exhibit atypical, and more robust recognition of social rank than normal children, which may be developed to compensate deficits of the neural systems processing social information.

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23. Postema MC, van Rooij D, Anagnostou E, Arango C, Auzias G, Behrmann M, Filho GB, Calderoni S, Calvo R, Daly E, Deruelle C, Di Martino A, Dinstein I, Duran FLS, Durston S, Ecker C, Ehrlich S, Fair D, Fedor J, Feng X, Fitzgerald J, Floris DL, Freitag CM, Gallagher L, Glahn DC, Gori I, Haar S, Hoekstra L, Jahanshad N, Jalbrzikowski M, Janssen J, King JA, Kong XZ, Lazaro L, Lerch JP, Luna B, Martinho MM, McGrath J, Medland SE, Muratori F, Murphy CM, Murphy DGM, O’Hearn K, Oranje B, Parellada M, Puig O, Retico A, Rosa P, Rubia K, Shook D, Taylor MJ, Tosetti M, Wallace GL, Zhou F, Thompson PM, Fisher SE, Buitelaar JK, Francks C. Altered structural brain asymmetry in autism spectrum disorder in a study of 54 datasets. Nat Commun ;2019 (Oct 31) ;10(1):4958.

Altered structural brain asymmetry in autism spectrum disorder (ASD) has been reported. However, findings have been inconsistent, likely due to limited sample sizes. Here we investigated 1,774 individuals with ASD and 1,809 controls, from 54 independent data sets of the ENIGMA consortium. ASD was significantly associated with alterations of cortical thickness asymmetry in mostly medial frontal, orbitofrontal, cingulate and inferior temporal areas, and also with asymmetry of orbitofrontal surface area. These differences generally involved reduced asymmetry in individuals with ASD compared to controls. Furthermore, putamen volume asymmetry was significantly increased in ASD. The largest case-control effect size was Cohen’s d = -0.13, for asymmetry of superior frontal cortical thickness. Most effects did not depend on age, sex, IQ, severity or medication use. Altered lateralized neurodevelopment may therefore be a feature of ASD, affecting widespread brain regions with diverse functions. Large-scale analysis was necessary to quantify subtle alterations of brain structural asymmetry in ASD.

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24. Reed P. Behavioral resurgence in individuals varying in depression, anxiety, and autism-associated tendencies. Heliyon ;2019 (Oct) ;5(10):e02457.

Resurgence is the reappearance of a previously reinforced, but then extinguished behavior, when an alternative behavior that has been reinforced to replace it is also extinguished. This phenomenon has been suggested as important in the re-occurrence of many clinical problems, but little is known currently about the relationship between this process and different psychopathological traits. This experiment addressed this gap by comparing the levels of resurgent behavior in participants scoring lower or higher on depression-, anxiety-, and autism-related characteristics. Sixty participants completed an experimental task of three phases. In the first, they were presented with a concurrent RR-5 ext schedule, in the second with a conc ext RR-5 schedule (each lasting 6min), and finally with a conc ext ext schedule (lasting 2 min). Following this, all participants completed the Beck Depression Inventory, State-Trait Anxiety Inventory, and Autism Quotient, questionnaires provided. Participants showed a resurgence of responding at test from the response extinguished in Phase 2 that was greater for those with lower levels of depression, but high levels of anxiety. These findings are discussed in terms of their implications for understanding individual differences in terms of psychiatric symptomatology, for their treatment, and in terms of theoretical predictions derived for the various psychopathologies.

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25. Romano A, Capri T, Semino M, Bizzego I, Di Rosa G, Fabio RA. Gross Motor, Physical Activity and Musculoskeletal Disorder Evaluation Tools for Rett Syndrome : A Systematic Review. Dev Neurorehabil ;2019 (Oct 31):1-17.

In recent years, much attention has been paid to motor impairment of persons with Rett Syndrome (RTT), with increasing literature aimed to describe gross motor functioning and musculoskeletal disorders of the RTT population. The aim of this systematic review is to describe clinical evaluation tools used in the last decade to assess motor functioning and musculoskeletal abnormalities of patients with RTT. Thirty-four studies were reviewed and 20 tools were presented. Results showed that only two tools were used to measure functional change after rehabilitative or therapeutic interventions. This review underlies the lack of adequate evaluation tools to assess musculoskeletal abnormalities and deformities in RTT population. The absence of these assessments could be due to a statistical difficulty as it is challenging to build an evaluation tool that can score the entities of the abnormalities related to the amount of disability they cause.

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26. Sagi-Dain L, Kedar R, Bardicef M, Riskin S. Numerous Confounders Affecting the Alleged Association Between Cesarean Deliveries Under General Anesthesia and Autism Spectrum Disorder. J Autism Dev Disord ;2019 (Oct 31)

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27. Shakes P, Cashin A. An Analysis of Twitter Discourse Regarding Identifying Language for People on the Autism Spectrum. Issues Ment Health Nurs ;2019 (Nov 1):1-8.

Person-first language, to refer to a person with autism, has been dominant within peer-reviewed literature ; however, there are autistic people who prefer identity-first language. This is a shift from the language championed within mental health nursing ; therefore it is important to understand the meaning and actions within identifying language. This analysis of 29,606 words of Twitter discourse explored the political struggle between the modes of language. Differences within the conceptualisation of autism and disability underpinned varied subject positions and the rearticulation of autism and expertise was identified. Contextually driven adoption of identifying language requires awareness of the potential benefits and consequences.

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28. Sharpe RA, Curry W, Brown R, Shankar R. A public health approach to reducing health inequalities among adults with autism. Br J Gen Pract ;2019 (Nov) ;69(688):534-535.

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29. So WC, Cheng CH, Lam WY, Wong T, Law WW, Huang Y, Ng KC, Tung HC, Wong W. Robot-based play-drama intervention may improve the narrative abilities of Chinese-speaking preschoolers with autism spectrum disorder. Res Dev Disabil ;2019 (Oct 24) ;95:103515.

BACKGROUND : Children with autism spectrum disorder (ASD) have deficits in their narrative skills and gestural communication. Very few intervention studies have been conducted with the aim of improving these skills. AIMS : We examined whether children with ASD who received the robot-based drama intervention had better narrative abilities and gestured more often than their peers who did not receive the intervention. METHODS AND PROCEDURES : Preschool children were randomly assigned to the intervention group (N = 13) and waitlist control group (N = 13). Children in the intervention group watched three robot dramas and engaged in roleplays with both robots and human experimenters. Children in both groups took the pre-tests, immediate post-tests, and, two week later, delayed post-tests, in which they narrated three stories. OUTCOMES AND RESULTS : There were significant improvements in various narrative measures, including narrative length, syntactic complexity, narrative structure, and cognitive inferences, in the intervention group. There was also an improvement in the average number of overall gestures per clause in this condition. These learning outcomes were maintained in the delayed post-test. These patterns were not found in the waitlist control group. CONCLUSIONS AND IMPLICATIONS : A robot-based play-drama intervention can enhance the narrative abilities and gestural communication of children with ASD.

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30. Thillay A, Morel-Kohlmeyer S, Roux M, Imbert J, Roul E, Bouillot M, Bonnefoy-Mathieu A, Bonnet-Brilhault F, Houy-Durand E. [Adaptation of cognitive remediation to adults with ASD : Feasibility and interest from two pilot groups]. Presse Med ;2019 (Oct 28)

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31. Uzun AD, Sapmaz SY, Ozturk M, Kandemir H. Hypertension Induced by Aripiprazole Use in an Autistic Child Patient. Clin Psychopharmacol Neurosci ;2019 (Nov 20) ;17(4):556-558.

Atypical antipsychotics in children and adolescents are widely used for aggression, emotional variability and psychosis treatment. Aripiprazole is also an atypical antipsychotic that increasingly used in children and adolescents with schizophrenia, autism and bipolar disorder. In this case report, a medically healthy patient with autism associated with behavioral problems is presented with the development of hypertension after the onset of aripiprazole and the return of blood pressure to normal levels after withdrawal of the drug. The purpose of this case study is to discuss and report the emergence of aripiprazole-induced hypertension as a side effect of drugs in children and adolescents.

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32. Wu H, Li H, Bai T, Han L, Ou J, Xun G, Zhang Y, Wang Y, Duan G, Zhao N, Chen B, Du X, Yao M, Zou X, Zhao J, Hu Z, Eichler EE, Guo H, Xia K. Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort. Clin Genet ;2019 (Nov 1)

The genotype-first approach has been successfully applied and has elucidated several subtypes of autism spectrum disorder (ASD). However, it requires very large cohorts because of the extensive genetic heterogeneity. We investigate the alternate possibility of whether phenotype-specific genes can be identified from a small group of patients with specific phenotype(s). To identify novel genes associated with ASD and abnormal head circumference using a phenotype-to-genotype approach, we performed whole-exome sequencing on 67 families with ASD and abnormal head circumference. Clinically relevant pathogenic or likely pathogenic variants account for 23.9% of patients with microcephaly or macrocephaly, and 81.25% of those variants or genes are head-size associated. Significantly, recurrent pathogenic mutations were identified in two macrocephaly genes (PTEN, CHD8) in this small cohort. De novo mutations in several candidate genes (UBN2, BIRC6, SYNE1, and KCNMA1) were detected, as well as one new candidate gene (TNPO3,) implicated in ASD and related neurodevelopmental disorders. We identify genotype-phenotype correlations for head-size-associated ASD genes and novel candidate genes for further investigation. Our results also suggest a phenotype-to-genotype strategy would accelerate the elucidation of genotype-phenotype relationships for ASD by using phenotype-restricted cohorts. This article is protected by copyright. All rights reserved.

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33. Zhang L, Yan G, Zhou L, Lan Z, Benson V. The Influence of Irrelevant Visual Distractors on Eye Movement Control in Chinese Children with Autism Spectrum Disorder : Evidence from the Remote Distractor Paradigm. J Autism Dev Disord ;2019 (Oct 31)

The current study examined eye movement control in autistic (ASD) children. Simple targets were presented in isolation, or with central, parafoveal, or peripheral distractors synchronously. Sixteen children with ASD (47-81 months) and nineteen age and IQ matched typically developing children were instructed to look to the target as accurately and quickly as possible. Both groups showed high proportions (40%) of saccadic errors towards parafoveal and peripheral distractors. For correctly executed eye movements to the targets, centrally presented distractors produced the longest latencies (time taken to initiate eye movements), followed by parafoveal and peripheral distractor conditions. Central distractors had a greater effect in the ASD group, indicating evidence for potential atypical voluntary attentional control in ASD children.

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