1. Bolgar R, Mercier L, Gramond J, Renoux C, Pinault M, Bouchard JP. [Place and role of caregivers of young people with autism spectrum disorders]. Revue de l’infirmiere. 2021; 70(271): 38-40.

The question of the place and role of caregivers, most often parents, for children with autism spectrum disorders has undergone significant change in recent years. It is now proven that when a parent acquires knowledge about autism, he is able to interact in a functional way and thus to use more effective educational methods with his child.

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2. Bottema-Beutel K, Crowley S. Pervasive Undisclosed Conflicts of Interest in Applied Behavior Analysis Autism Literature. Frontiers in psychology. 2021; 12: 676303.

Many autistic people (including researchers and non-researchers) are becoming increasingly involved in, and increasingly critical of, autism intervention research. They have expressed concerns regarding applied behavior analysis (ABA) interventions on a number of grounds, one of which is the prevalence of conflicts of interests (COIs) among autism intervention researchers. These concerns are now also being addressed by non-autistic researchers. COIs can introduce bias into the research process, and allow researchers to demonstrate positive effects for interventions that are not actually effective. Despite these concerns, there are no studies to date that examine the prevalence of COIs in behavioral journals. Because ABA services are routinely provided to autistic people in the United States as a means to address difficulties experienced by autistic people, this is an important area of investigation. We tallied author COIs in articles published over a 1-year period that tested, commented on, or reviewed ABA autism intervention strategies, extracted from eight journals devoted to publishing behavioral research. We coded included studies for COIs related to researcher employment as an ABA clinical provider or a training consultant to ABA clinical providers. We found that 84% of studies had at least one author with this type of COI, but they were only disclosed as COIs in 2% of studies. Additionally, 87% of studies with statements claiming the authors did not have COIs, were authored by researchers found to have clinical/training consultancy COIs. Pervasive, undisclosed COIs likely lead to researcher bias, and could at least partially account for persistent poor quality research in this area. The high prevalence of COIs among this research corroborates the concerns expressed by many autistic people. The autism community – including autistic people, autism researchers, and other stakeholders – should be aware of the prevalence of undisclosed COIs in this literature and take this into account when using, providing, or recommending ABA services.

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3. Briot K, Pizano A, Bouvard M, Amestoy A. New Technologies as Promising Tools for Assessing Facial Emotion Expressions Impairments in ASD: A Systematic Review. Frontiers in psychiatry. 2021; 12: 634756.

The ability to recognize and express emotions from facial expressions are essential for successful social interactions. Facial Emotion Recognition (FER) and Facial Emotion Expressions (FEEs), both of which seem to be impaired in Autism Spectrum Disorders (ASD) and contribute to socio-communicative difficulties, participate in the diagnostic criteria for ASD. Only a few studies have focused on FEEs processing and the rare behavioral studies of FEEs in ASD have yielded mixed results. Here, we review studies comparing the production of FEEs between participants with ASD and non-ASD control subjects, with a particular focus on the use of automatic facial expression analysis software. A systematic literature search in accordance with the PRISMA statement identified 20 reports published up to August 2020 concerning the use of new technologies to evaluate both spontaneous and voluntary FEEs in participants with ASD. Overall, the results highlight the importance of considering socio-demographic factors and psychiatric co-morbidities which may explain the previous inconsistent findings, particularly regarding quantitative data on spontaneous facial expressions. There is also reported evidence for an inadequacy of FEEs in individuals with ASD in relation to expected emotion, with a lower quality and coordination of facial muscular movements. Spatial and kinematic approaches to characterizing the synchrony, symmetry and complexity of facial muscle movements thus offer clues to identifying and exploring promising new diagnostic targets. These findings have allowed hypothesizing that there may be mismatches between mental representations and the production of FEEs themselves in ASD. Such considerations are in line with the Facial Feedback Hypothesis deficit in ASD as part of the Broken Mirror Theory, with the results suggesting impairments of neural sensory-motor systems involved in processing emotional information and ensuring embodied representations of emotions, which are the basis of human empathy. In conclusion, new technologies are promising tools for evaluating the production of FEEs in individuals with ASD, and controlled studies involving larger samples of patients and where possible confounding factors are considered, should be conducted in order to better understand and counter the difficulties in global emotional processing in ASD.

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4. Chen D, Jia T, Zhang Y, Cao M, Loth E, Lo CZ, Cheng W, Liu Z, Gong W, Sahakian BJ, Feng J. Neural Biomarkers Distinguish Severe From Mild Autism Spectrum Disorder Among High-Functioning Individuals. Frontiers in human neuroscience. 2021; 15: 657857.

Several previous studies have reported atypicality in resting-state functional connectivity (FC) in autism spectrum disorder (ASD), yet the relatively small effect sizes prevent us from using these characteristics for diagnostic purposes. Here, canonical correlation analysis (CCA) and hierarchical clustering were used to partition the high-functioning ASD group (i.e., the ASD discovery group) into subgroups. A support vector machine (SVM) model was trained through the 10-fold strategy to predict Autism Diagnostic Observation Schedule (ADOS) scores within the ASD discovery group (r = 0.30, P < 0.001, n = 260), which was further validated in an independent sample (i.e., the ASD validation group) (r = 0.35, P = 0.031, n = 29). The neuroimage-based partition derived two subgroups representing severe versus mild autistic patients. We identified FCs that show graded changes in strength from ASD-severe, through ASD-mild, to controls, while the same pattern cannot be observed in partitions based on ADOS score. We also identified FCs that are specific for ASD-mild, similar to a partition based on ADOS score. The current study provided multiple pieces of evidence with replication to show that resting-state functional magnetic resonance imaging (rsfMRI) FCs could serve as neural biomarkers in partitioning high-functioning autistic individuals based on their symptom severity and showing advantages over traditional partition based on ADOS score. Our results also indicate a compensatory role for a frontocortical network in patients with mild ASD, indicating potential targets for future clinical treatments.

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5. Clark GT, Reuterskiöld C. Orthographic Support for Word Learning in Clinical Populations: A Systematic Review. Language, speech, and hearing services in schools. 2021; 52(3): 937-48.

Purpose A systematic review was performed to determine the extent to which orthographic facilitation, a strategy to improve word learning, has been demonstrated in the literature for children and adolescents from clinical categories such as developmental language disorders (DLD), autism spectrum disorders (ASD), Down syndrome, dyslexia, hearing impairment, intellectual disability, and cerebral palsy. Method Five databases were searched for all studies published through December 2019. Eligible studies included participants from a clinical population (DLD, ASD, dyslexia, cerebral palsy, Down syndrome, hearing impairment, etc.) and compared word learning with and without orthography. Selected studies were extracted for pertinent information. In addition, assessment of the methodological rigor was performed for each study. Results The review yielded five studies that targeted word learning with orthographic facilitation for children from various clinical populations including DLD, verbal children with autism, Down syndrome, and dyslexia. All studied populations showed a benefit for word learning in picture naming posttests when words were trained in the presence of orthography. Conclusions For the studied populations, training words in the presence of orthography will improve word learning accuracy and retention. The review highlights the need for more research in this area across other clinical populations. Supplemental Material https://doi.org/10.23641/asha.14632791.

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6. Grebe SC, Mire SS, Kim H, Keller-Margulis MA. Comparing Fathers’ and Mothers’ Perspectives About Their Child’s Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022; 52(4): 1841-54.

Mothers are often the primary parent participants in autism spectrum disorder (ASD) research. As a result, little is known about fathers’ perceptions regarding their children’s ASD and whether these perceptions differ from mothers’. Given the limited information available regarding fathers’ perceptions about their children’s ASD, this study aimed to investigate father variables (stress, coping, support, and perception of disability) and how they compare to mothers’. Participants were 361 biological parents (294 mothers and 67 fathers) of children on the autism spectrum who participated in a larger study. Results revealed significant differences between mothers’ and fathers’ self-reported stress and coping. Understanding differences between parents’ perspectives has both research and clinical implications for working with families raising children on the autism spectrum.

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7. Hoffman MC, Freedman R, Law AJ, Clark AM, Hunter SK. Maternal nutrients and effects of gestational COVID-19 infection on fetal brain development. Clinical nutrition ESPEN. 2021; 43: 1-8.

BACKGROUND & AIMS: Maternal gestational infection is a well-characterized risk factor for offsprings’ development of mental disorders including schizophrenia, autism, and attention deficit disorder. The inflammatory response elicited by the infection is partly directed against the placenta and fetus and is the putative pathogenic mechanism for fetal brain developmental abnormalities. Fetal brain abnormalities are generally irreversible after birth and increase risk for later mental disorders. Maternal immune activation in animals models this pathophysiology. SARS-CoV-2 produces maternal inflammatory responses during pregnancy similar to previously studied common respiratory viruses. METHOD: Choline, folic acid, Vitamin D, and n-3 polyunsaturated fatty acids are among the nutrients that have been studied as possible mitigating factors for effects of maternal infection and inflammation on fetal development. Clinical and animal studies relevant to their use in pregnant women who have been infected are reviewed. RESULTS: Higher maternal choline levels have positive effects on the development of brain function for infants of mothers who experienced viral infections in early pregnancy. No other nutrient has been studied in the context of viral inflammation. Vitamin D reduces pro-inflammatory cytokines in some, but not all, studies. Active folic acid metabolites decrease anti-inflammatory cytokines. N-3 polyunsaturated fatty acids have no effect. CONCLUSIONS: Vitamin D and folic acid are already supplemented in food additives and in prenatal vitamins. Despite recommendations by several public health agencies and medical societies, choline intake is often inadequate in early gestation when the brain is forming. A public health initiative for choline supplements during the pandemic could be helpful for women planning or already pregnant who also become exposed or infected with SARS-CoV-2.

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8. Hudson M, Nicholson T, Kharko A, McKenzie R, Bach P. Predictive action perception from explicit intention information in autism. Psychonomic bulletin & review. 2021; 28(5): 1556-66.

Social difficulties in autism spectrum disorder (ASD) may originate from a reduced top-down modulation of sensory information that prevents the spontaneous attribution of intentions to observed behaviour. However, although people with autism are able to explicitly reason about others’ mental states, the effect of abstract intention information on perceptual processes has remained untested. ASD participants (n = 23) and a neurotypical (NT) control group (n = 23) observed a hand either reaching for an object or withdrawing from it. Prior to action onset, the participant either instructed the actor to « Take it » or « Leave it », or heard the actor state « I’ll take it » or « I’ll leave it », which provided an explicit intention that was equally likely to be congruent or incongruent with the subsequent action. The hand disappeared before completion of the action, and participants reported the last seen position of the tip of the index finger by touching the screen. NT participants exhibited a predictive bias in response to action direction (reaches perceived nearer the object, withdrawals perceived farther away), and in response to prior knowledge of the actor’s intentions (nearer the object after « Take it », farther away after « Leave it »). However, ASD participants exhibited a predictive perceptual bias only in response to the explicit intentions, but not in response to the motion of the action itself. Perception in ASD is not immune from top-down modulation. However, the information must be explicitly presented independently from the stimulus itself, and not inferred from cues inherent in the stimulus.

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9. Jannati A, Ryan MA, Block G, Kayarian FB, Oberman LM, Rotenberg A, Pascual-Leone A. Modulation of motor cortical excitability by continuous theta-burst stimulation in adults with autism spectrum disorder. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 2021; 132(7): 1647-62.

OBJECTIVE: To test whether change in motor evoked potential (ΔMEP) induced by continuous theta-burst stimulation (cTBS) of motor cortex (M1) distinguishes adults with autism spectrum disorder (ASD) from neurotypicals, and to explore the contribution of two common polymorphisms related to neuroplasticity. METHODS: 44 adult neurotypical (NT) participants (age 21-65, 34 males) and 19 adults with ASD (age 21-58, 17 males) prospectively underwent M1 cTBS. Their data were combined with previously obtained results from 35 NT and 35 ASD adults. RESULTS: ΔMEP at 15 minutes post-cTBS (T15) was a significant predictor of diagnosis (p = 0.04) in the present sample (n=63). T15 remained a significant predictor in a larger sample (n=91) and when partially imputed based on T10-T20 from a yet-greater sample (N=133). T15 also remained a significant predictor of diagnosis among brain-derived neurotrophic factor (BDNF) Met+ and apolipoprotein E (APOE) ε4- subjects (p’s < 0.05), but not among Met- or ε4+ subjects (p's > 0.19). CONCLUSIONS: ΔMEP at T15 post-cTBS is a significant biomarker for adults with ASD, and its utility is modulated by BDNF and APOE polymorphisms. SIGNIFICANCE: M1 cTBS response is a physiologic biomarker for adults with ASD in large samples, and controlling for BDNF and APOE polymorphisms can improve its diagnostic utility.

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10. Kotila A, Tohka J, Kauppi JP, Gabbatore I, Mäkinen L, Hurtig TM, Ebeling HE, Korhonen V, Kiviniemi VJ, Loukusa S. Neural-level associations of non-verbal pragmatic comprehension in young Finnish autistic adults. International journal of circumpolar health. 2021; 80(1): 1909333.

This video-based study examines the pragmatic non-verbal comprehension skills and corresponding neural-level findings in young Finnish autistic adults, and controls. Items from the Assessment Battery of Communication (ABaCo) were chosen to evaluate the comprehension of non-verbal communication. Inter-subject correlation (ISC) analysis of the functional magnetic resonance imaging data was used to reveal the synchrony of brain activation across participants during the viewing of pragmatically complex scenes of ABaCo videos. The results showed a significant difference between the ISC maps of the autistic and control groups in tasks involving the comprehension of non-verbal communication, thereby revealing several brain regions where correlation of brain activity was greater within the control group. The results suggest a possible weaker modulation of brain states in response to the pragmatic non-verbal communicative situations in autistic participants. Although there was no difference between the groups in behavioural responses to ABaCo items, there was more variability in the accuracy of the responses in the autistic group. Furthermore, mean answering and reaction times correlated with the severity of autistic traits. The results indicate that even if young autistic adults may have learned to use compensatory resources in their communicative-pragmatic comprehension, pragmatic processing in naturalistic situations still requires additional effort.

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11. Lamar KJ, Carvill GL. Free as a BRD4: Bromodomain Inhibition Ameliorates Disease Phenotypes in a Model of MECP2 Deficiency and Is a Potential Therapy for Rett Syndrome. Epilepsy currents. 2020; 20(6): 390-2.

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12. Lee GT, Hu X, Liu Y, Yang Z. Improving pretend play for children with autism through experiencing the stimulus properties of real objects. Journal of applied behavior analysis. 2021; 54(4): 1369-84.

Children with autism spectrum disorder (ASD) often lack symbolic play skills. Attribution of pretend properties (APP) is a type of symbolic play in which a child tacts pretend properties of an object (e.g., smelling a toy flower and saying, « It smells like a rose! »). Three Chinese boys (5-6 years of age) with ASD served as participants. A multiple-probe design across 5 objects was used to determine the effects of an intervention that involved having the child experience and tact sensory properties of real objects (e.g., rose). Corresponding test objects, including mock (e.g., a toy flower) and arbitrary objects (e.g., a stick), were used to evaluate whether tact responses for sensory properties were transferred. Results indicated that all 3 children emitted tacts of stimulus properties for test objects and maintained the skill for 7 to 10 weeks following the intervention. Two participants also tacted novel (nontarget) properties for test objects.

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13. Levitskiy D, Confair A, Wagner KE, DeVita S, Shea N, McKernan EP, Kopec J, Russo N, Middleton FA, Hicks SD. Longitudinal stability of salivary microRNA biomarkers in children and adolescents with autism spectrum disorder. Research in autism spectrum disorders. 2021; 85.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurological condition with increasing prevalence. Few tools accurately predict the developmental trajectory of children with ASD. Such tools would allow clinicians to provide accurate prognoses and track the efficacy of therapeutic interventions. Salivary RNAs that reflect the genetic-environmental interactions underlying ASD may provide objective measures of symptom severity and developmental outcomes. This study investigated whether salivary RNAs previously identified in childhood ASD remain perturbed in older children. We also explored whether RNA candidates changed with therapeutic intervention. METHOD: A case-control design was used to characterize levels of 78 saliva RNA candidates among 96 children (48 ASD, 48 non-ASD, mean age: 11 years). Thirty-one children (22 ASD, 9 non-ASD developmental delay, mean age: 4 years) were followed longitudinally to explore changes of RNA candidates during early intervention. Saliva RNA and standardized behavioral assessments were collected for each participant. Associations between candidate RNAs and behavioral scores were determined in both groups via Spearman Correlation. Changes in candidate RNAs across two time-points were assessed in the younger cohort via Wilcoxon rank-sum test. RESULTS: Seven RNAs were associated with VABS-II and BASC scores in the older group ([R] >0.25, FDR< 0.15). Within the younger cohort, 12 RNAs displayed significant changes over time (FDR< 0.05). Three microRNAs were associated with behavioral scores and changed over time (miR-182-5p, miR-146b-5p, miR-374a-5p). CONCLUSION: Several salivary RNAs are strongly associated with autistic behaviors in older individuals with ASD and change as early as three months after therapy initiation in younger children. These molecules could be used to track treatment effectiveness and provide prognoses. Further validation is necessary.

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14. Morris SL, Vollmer TR. Evaluating the function of social interaction for children with autism. Journal of applied behavior analysis. 2021; 54(4): 1456-67.

Several researchers have assessed whether or not social interaction is reinforcing; however, few studies have evaluated methods of assessing whether social interactions function as reinforcing, neutral, or aversive stimuli. We extend this research by evaluating a new method of assessing the function of social interaction. Twenty-one children diagnosed with Autism Spectrum Disorder (ASD) participated. Social interactions were found to function as reinforcers for 9 participants, neutral stimuli for 7 participants, and aversive stimuli for 5 participants. The method evaluated was found to be more efficient, may be more feasible, and was similarly as decisive as methods evaluated in previous research. Implications of this study and its methodology as well as future directions in this line of research are discussed.

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15. Nosib S, Nosib S. ALCAPA and ASD Secundum Unmasked by Severe Postpartum Haemorrhage Complicated by Heart Failure. CJC open. 2021; 3(5): 684-6.

Abnormal Left Coronary Artery from Pulmonary Artery (ALCAPA) is a rare congenital coronary anomaly in which the left main coronary artery arises from the pulmonary trunk, resulting in a left to right shunt. ALCAPA is associated with septal defects and patent ductus arteriosus. The case discussed had a secundum atrial septal defect. Sudden cardiac death is a feared complication. We discuss the hemodynamics of this shunt combination and outline its management, emphasizing shunt hemodynamics during pregnancy. This case highlights that pregnant patients with ALCAPA are at high risk and require optimal peri- and postpartum care. After surgical establishment of dual coronary circulation, patients have carried subsequent pregnancies to term.

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16. Siegel-Ramsay JE, Romaniuk L, Whalley HC, Roberts N, Branigan H, Stanfield AC, Lawrie SM, Dauvermann MR. Glutamate and functional connectivity – support for the excitatory-inhibitory imbalance hypothesis in autism spectrum disorders. Psychiatry research Neuroimaging. 2021; 313: 111302.

It has been proposed that the Glutamate (Glu) system is implicated in autism spectrum disorders (ASD) via an imbalance between excitatory and inhibitory brain circuits, which impacts on brain function. Here, we investigated the excitatory-inhibitory imbalance theory by measuring Glu-concentrations and the relationship with resting-state function. Nineteen adult males with ASD and 19 age and sex-matched healthy controls (HC) (23 – 58 years) underwent Proton Magnetic Resonance Spectroscopy of the dorsal anterior cingulate cortex (dACC) and resting-state functional Magnetic Resonance Imaging (fMRI). Glu and Glx concentrations were compared between groups. Seed-based functional connectivity was analyzed with a priori seeds of the right and left dACC. Finally, metabolite concentrations were related to functional connectivity coefficients and compared between both groups. Individuals with ASD showed significantly negative associations between increased Glx concentrations and reduced functional connectivity between the dACC and insular, limbic and parietal regions. In contrast, HC displayed a positive relationship between the same metabolite and connectivity measures. We provided new evidence to support the excitatory-inhibitory imbalance theory, where excitatory Glx concentrations were related to functional dysconnectivity in ASD. Future research is needed to investigate large-scale functional networks in association with both excitatory and inhibitory metabolites in subpopulations of ASD.

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17. Xu J, Marshall JJ, Kraniotis S, Nomura T, Zhu Y, Contractor A. Genetic disruption of Grm5 causes complex alterations in motor activity, anxiety and social behaviors. Behavioural brain research. 2021; 411: 113378.

Autism is a neurodevelopmental disorder characterized by impaired social interactions and restricted and repetitive behaviors. Although group 1 metabotropic glutamate receptors (mGluRs), and in particular mGluR5, have been extensively proposed as potential targets for intervention in autism and other neurodevelopmental disorders, there has not been a comprehensive analysis of the effect of mGluR5 loss on behaviors typically assessed in autism mouse models thought to be correlates of behavioral symptoms of human disorders. Here we present a behavioral characterization of mice with complete or partial loss of mGluR5 (homozygous or heterozygous null mutations in Grm5 gene). We tested several autism related behaviors including social interaction, repetitive grooming, digging and locomotor behaviors. We found that digging and marble burying behaviors were almost completely abolished in mGluR5 ko mice, although self-grooming was not altered. Social interaction was impaired in ko but not in heterozygote (het) mice. In tests of locomotor activity and anxiety related behaviors, mGluR5 ko mice exhibited hyperactivity and reduced anxiety in the open field test but unexpectedly, showed hypoactivity in the elevated zero-maze test. There was no impairment in motor learning in the accelerating rotarod in both ko and het mutant. Together these results provide support for the importance of mGluR5 in motor and social behaviors that are specifically affected in autism disorders.

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