1. Ahmed OG, Shehata GA, Ali RM, Makboul R, Abd Allah ESH, Abd El-Rady NM. Folic acid ameliorates neonatal isolation-induced autistic like behaviors in rats : Epigenetic modifications of BDNF and GFAP promotors’. Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme. 2021.

The current study investigated the role of epigenetic dysregulation of brain derived neurotrophic factor (BDNF) and glial fibrillary acidic protein (GFAP) genes and oxidative stress as possible mechanisms of autistic-like behaviors in neonatal isolation model in rats and the impact of folic acid administration on these parameters. Forty Wistar albino pups were used as follows : control, folic acid administered, isolated, and isolated folic acid treated groups. Isolated pups were separated from their mothers for 90 min daily from postnatal day (PND) 1 to 11. Pups (isolated or control) received either the vehicle or folic acid (4mg/kg/day) orally from PND 1 to 29. Behavioral tests were done from PND 30 to 35. Oxidative stress markers and antioxidant defense in the frontal cortex homogenate were determined. DNA methylation of BDNF and GFAP genes was determined by qPCR. Histopathological examination was carried out. Neonatal isolation produced autistic-like behaviors that were associated with BDNF and GFAP hypomethylation, increased oxidative stress, increased inflammatory cell infiltration, and structural changes in the frontal cortex. Folic acid administration concurrently with isolation, reduced neonatal isolation-induced autistic-like behaviors, decreased oxidative stress, regained BDNF and GFAP gene methylation, ameliorated structural changes in the frontal cortices of isolated folic acid treated rats. Novelty bullets • Neonatal isolation (NI) induces « autistic-like » behavior and these behaviors are reversed by folic acid supplementation. • Molecular and biochemical analyses showed that -NI induces DNA hypomethylation of BDNF and GFAP, increased oxidative stress markers, and neuroinflammation -All of these changes were reversed by daily folic acid supplementation.

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2. Aykan S, Puglia MH, Kalaycıoğlu C, Pelphrey KA, Tuncalı T, Nalçacı E. Right Anterior Theta Hypersynchrony as a Quantitative Measure Associated with Autistic Traits and K-Cl Cotransporter KCC2 Polymorphism. J Autism Dev Disord. 2021.

Our aim was to use theta coherence as a quantitative trait to investigate the relation of the polymorphisms in NKCC1 (rs3087889) and KCC2 (rs9074) channel protein genes to autistic traits (AQ) in neurotypicals. Coherence values for candidate connection regions were calculated from eyes-closed resting EEGs in two independent groups. Hypersynchrony within the right anterior region was related to AQ in both groups (p < 0.05), and variability in this hypersynchrony was related to the rs9074 polymorphism in the total group (p < 0.05). In conclusion, theta hypersynchrony within the right anterior region during eyes-closed rest can be considered a quantitative measure for autistic traits. Replicating our findings in two independent populations with different backgrounds strengthens the validity of the current study.

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3. Błeszyński JJ. Self – Regard of Individuals with Autism – How People from the Autism Spectrum Perceive Autism. A Netnographic Research. Integrative psychological & behavioral science. 2021.

This research on adults with a diagnosis of autism is a multidirectional and multistage analysis. It is aimed at reviewing the current knowledge about the disorder as well as taking optimal actions towards social inclusion for people with ASD (autistic spectrum disorder). The research and analysis was facilitated by selecting subjects who have sufficient communication and social skills to be able to participate in the study. The new DSM 5, which now has descriptors of CTS (Conflict Tactics Scale) degrees, was useful for this purpose. Data was gathered by means of personalized forms and methods, with in-depth netnographic (rather than face-to-face) interviews conducted. As no similar research using the netnographic method could be found, a pilot study was initiated, which was then gradually expanded to include a larger number of respondents. This research made it possible to record the views of people with ASD regarding autism and their functioning in society.

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4. Bradshaw P, Pickett C, van Driel ML, Brooker K, Urbanowicz A. Recognising, supporting and understanding Autistic adults in general practice settings. Australian journal of general practice. 2021 ; 50(3) : 126-30.

BACKGROUND : The health and wellbeing of Autistic people are well below those of their non-Autistic counterparts. With studies showing a reduced life expectancy and poor physical and mental health, it is important that healthcare professionals strive towards improving the lives of Autistic people by recognising those who are undiagnosed and/or misdiagnosed and providing meaningful support. OBJECTIVE : The aim of this article is to empower general practitioners (GPs) to feel comfortable in recognising potentially undiagnosed Autistic adults. The authors aim to further the understanding of the Autistic experience, including frequently co-occurring physical and mental health conditions, and to give GPs some tools to make the experience of accessing healthcare less problematic for Autistic people. DISCUSSION : The healthcare experiences of Autistic adults will be greatly improved with a knowledgeable, understanding and accepting GP as the cornerstone of their care.

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5. Bradshaw P, Pickett C, van Driel ML, Brooker K, Urbanowicz A. ‘Autistic’ or ‘with autism’ ? Why the way general practitioners view and talk about autism matters. Australian journal of general practice. 2021 ; 50(3) : 104-8.

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6. Brignell A, Cox G, Ure A, Bernie C, Williams K. Identifying and supporting autistic preschoolers and their families. Australian journal of general practice. 2021 ; 50(3) : 115-9.

BACKGROUND : In Australia, preschoolers are being identified and diagnosed as autistic. OBJECTIVE : The aim of this article is to describe the different paths preschool children and their families can take from identification of developmental or behavioural concerns to ongoing support, intervention and healthcare. DISCUSSION : There are many ways in which general practitioners, working alongside other professionals and with relevant services, can assist each child and family.

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7. Chen F, Gao J, Zhu C, Zhang L, Zhang L, Wang A, Shi B, Wang K, Yu F. Abnormal negative feedback processing in individuals with autistic traits in the Iowa gambling task : Evidence from behavior and event-related potentials. International journal of psychophysiology : official journal of the International Organization of Psychophysiology. 2021.

Value-based decision making plays an important role in social interaction. Previous studies have reported that individuals with autism spectrum disorder (ASD) exhibit deficits in terms of decision making. However, it is still unknown clearly whether individuals with high autistic traits within nonclinical populations employ abnormal neural substrates in value-based decision-making. To explore this issue, we investigated value-based decision making and its neural substrates in individuals with high and low autistic traits within a typically developing population who completed the revised Iowa gambling task (IGT) based on measurements of event-related potentials (ERPs). The IGT net scores were significantly lower in the group with high autistic traits than the group with low autistic traits in the fifth and sixth blocks. The ERP results showed that the feedback-related negativity (FRN) amplitude in individuals with high autistic traits allowed slight discrimination between positive and negative feedback in the low-risk option. The event-related spectral perturbations (ERSPs) and inter-trial coherence (ITC) of the theta-band frequency were also lower in the group with high autistic traits than the group with low autistic traits in the loss low-risk option. The results obtained in this study indicate that individuals with high autistic traits exhibit an unusual negative feedback process and relevant neural substrate. The FRN amplitude and theta-band oscillation may comprise a neural index of abnormal decision-making processes in individuals with high autistic traits. This study of a small sample may be considered an important step toward a more comprehensive understanding of the autism « spectrum » within a nonclinical population based on cognitive neuroscience.

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8. DeMayo MM, Harris AD, Song YJC, Pokorski I, Thapa R, Patel S, Ambarchi Z, Thomas EE, Hickie IB, Guastella AJ. Age-related parietal GABA alterations in children with autism spectrum disorder. Autism Res. 2021.

GABA is the primary inhibitory neurotransmitter in the brain, and is essential to the balance of cortical excitation and inhibition. Reductions in GABA are proposed to result in an overly excitatory cortex that may cause, or contribute to, symptoms of autism spectrum disorder (ASD). This study employed a cross-sectional design to explore GABA+ differences in ASD and the impact of age, comparing 4-12 year olds with ASD (N = 24) to typically developing children (N = 35). GABA+ concentration was measured using edited magnetic resonance spectroscopy in the left parietal lobe. This study used a mixed model to investigate group differences between children with ASD and typically developing children. There was a significant difference in GABA+ levels between the groups, a significant effect of age and interaction between age and diagnostic group. The ASD group showed an association between GABA+ and age, with GABA+ levels gradually increasing with age (r = 0.59, p = 0.003). Typically developing children did not show age-related change in GABA+ concentration (r = 0.09, p = 0.60). By the age of 9, children with ASD showed GABA+ levels that were comparable to their typically developing peers. This study suggests that children with ASD have initially lower levels of GABA+ in the left parietal lobe compared to typically developing children, and that these initially lower levels of GABA+ increase with age in ASD within this region. It is suggested that this developmental shift of GABA+ levels within the left parietal lobe provides a possible explanation for the previously found reductions in childhood that does not persist in adults. LAY SUMMARY : This study measured levels of GABA in the left parietal lobe using magnetic resonance spectroscopy in children with ASD and typically developing children. GABA levels were initially lower in the ASD group, and increased with age, while GABA did not change with age in the typically developing group. This suggests that alterations in GABA signaling may be associated with ASD in childhood.

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9. Ding Y, O’Brien A, Marcó de la Cruz B, Yang M, Lu Y, Qian X, Yang G, McInerney V, Krawczyk J, Lynch SA, Howard L, Allen NM, O’Brien T, Gallagher L, Shen S. Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B). Stem cell research. 2021 ; 53 : 102254.

NRXN1 deletions are commonly found in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. Derivation of induced pluripotent stem cells (iPSCs) from different diseases involving different deletion regions are essential, as NRXN1 may produce thousands of splicing variants. We report here the derivation of iPSCs from a sibling control and an ASD proband carrying de novo heterozygous deletions in the middle region of NRXN1, using a non-integrating Sendai viral kit. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. All iPSC lines highly expressed pluripotency markers and could be differentiated into three germ layers.

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10. Duville MM, Alonso-Valerdi LM, Ibarra-Zarate DI. Electroencephalographic Correlate of Mexican Spanish Emotional Speech Processing in Autism Spectrum Disorder : To a Social Story and Robot-Based Intervention. Front Hum Neurosci. 2021 ; 15 : 626146.

Socio-emotional impairments are key symptoms of Autism Spectrum Disorders. This work proposes to analyze the neuronal activity related to the discrimination of emotional prosodies in autistic children (aged 9 to 11-year-old) as follows. Firstly, a database for single words uttered in Mexican Spanish by males, females, and children will be created. Then, optimal acoustic features for emotion characterization will be extracted, followed of a cubic kernel function Support Vector Machine (SVM) in order to validate the speech corpus. As a result, human-specific acoustic properties of emotional voice signals will be identified. Secondly, those identified acoustic properties will be modified to synthesize the recorded human emotional voices. Thirdly, both human and synthesized utterances will be used to study the electroencephalographic correlate of affective prosody processing in typically developed and autistic children. Finally, and on the basis of the outcomes, synthesized voice-enhanced environments will be created to develop an intervention based on social-robot and Social Story(TM) for autistic children to improve affective prosodies discrimination. This protocol has been registered at BioMed Central under the following number : ISRCTN18117434.

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11. Forbes G, Lord C, Elias R, Pickles A. Predicting Uncertain Multi-Dimensional Adulthood Outcomes From Childhood and Adolescent Data in People Referred to Autism Services. Front Psychol. 2021 ; 12 : 594462.

INTRODUCTION : Autism spectrum disorder is a highly heterogeneous diagnosis. When a child is referred to autism services or receives a diagnosis of autism spectrum disorder it is not known what their potential adult outcomes could be. We consider the challenge of making predictions of an individual child’s long-term multi-facetted adult outcome, focussing on which aspects are predictable and which are not. METHODS : We used data from 123 adults participating in the Autism Early Diagnosis Cohort. Participants were recruited from age 2 and followed up repeatedly through childhood and adolescence to adulthood. We predicted 14 adult outcome measures including cognitive, behavioral and well-being measures. Continuous outcomes were modeled using lasso regression and ordinal outcomes were modeled using proportional odds regression. Optimism corrected predictive performance was calculated using cross-validation or bootstrap. We also illustrated the prediction of an overall composite formed by weighting outcome measures by priorities elicited from parents. RESULTS : We found good predictive performance from age 9 for verbal and non-verbal IQ, and daily living skills. Predictions for symptom severity, hyperactivity and irritability improved with inclusion of behavioral data collected in adolescence but remained modest. For other outcomes covering well-being, depression, and positive and negative affect we found no ability to predict adult outcomes at any age. Predictions of composites based on parental priorities differed in magnitude and precision depending on which parts of the adult outcome were given more weight. CONCLUSION : Verbal and non-verbal IQ, and daily living skills can be predicted well from assessments made in childhood. For other adult outcomes, it is challenging to make meaningful predictions from assessments made in childhood and adolescence using the measures employed in this study. Future work should replicate and validate the present findings in different samples, investigate whether the availability of different measures in childhood and adolescence can improve predictions, and consider systematic differences in priorities.

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12. Foss-Feig JH, Guillory SB, Roach BJ, Velthorst E, Hamilton H, Bachman P, Belger A, Carrion R, Duncan E, Johannesen J, Light GA, Niznikiewicz M, Addington JM, Cadenhead KS, Cannon TD, Cornblatt B, McGlashan T, Perkins D, Seidman LJ, Stone WS, Tsuang M, Walker EF, Woods S, Bearden CE, Mathalon DH. Abnormally Large Baseline P300 Amplitude Is Associated With Conversion to Psychosis in Clinical High Risk Individuals With a History of Autism : A Pilot Study. Frontiers in psychiatry. 2021 ; 12 : 591127.

Psychosis rates in autism spectrum disorder (ASD) are 5-35% higher than in the general population. The overlap in sensory and attentional processing abnormalities highlights the possibility of related neurobiological substrates. Previous research has shown that several electroencephalography (EEG)-derived event-related potential (ERP) components that are abnormal in schizophrenia, including P300, are also abnormal in individuals at Clinical High Risk (CHR) for psychosis and predict conversion to psychosis. Yet, it is unclear whether P300 is similarly sensitive to psychosis risk in help-seeking CHR individuals with ASD history. In this exploratory study, we leveraged data from the North American Prodrome Longitudinal Study (NAPLS2) to probe for the first time EEG markers of longitudinal psychosis profiles in ASD. Specifically, we investigated the P300 ERP component and its sensitivity to psychosis conversion across CHR groups with (ASD+) and without (ASD-) comorbid ASD. Baseline EEG data were analyzed from 304 CHR patients (14 ASD+ ; 290 ASD-) from the NAPLS2 cohort who were followed longitudinally over two years. We examined P300 amplitude to infrequent Target (10% ; P3b) and Novel distractor (10% ; P3a) stimuli from visual and auditory oddball tasks. Whereas P300 amplitude attenuation is typically characteristic of CHR and predictive of conversion to psychosis in non-ASD sample, in our sample, history of ASD moderated this relationship such that, in CHR/ASD+ individuals, enhanced – rather than attenuated – visual P300 (regardless of stimulus type) was associated with psychosis conversion. This pattern was also seen for auditory P3b amplitude to Target stimuli. Though drawn from a small sample of CHR individuals with ASD, these preliminary results point to a paradoxical effect, wherein those with both CHR and ASD history who go on to develop psychosis have a unique pattern of enhanced neural response during attention orienting to both visual and target stimuli. Such a pattern stands out from the usual finding of P300 amplitude reductions predicting psychosis in non-ASD CHR populations and warrants follow up in larger scale, targeted, longitudinal studies of those with ASD at clinical high risk for psychosis.

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13. Goldfarb Y, Gal E, Golan O. Implications of Employment Changes Caused by COVID-19 on Mental Health and Work-Related Psychological Need Satisfaction of Autistic Employees : A Mixed-Methods Longitudinal Study. J Autism Dev Disord. 2021 : 1-14.

This mixed-methods study examined longitudinal data, assessing Israeli autistic adults’ employment-related changes, resulting from the COVID-19 pandemic. In the quantitative phase, 23 participants answered a survey before and during COVID-19, assessing work-status, mental health, and work-related psychological need satisfaction. The qualitative phase included interviews with ten employed participants. Results indicate a significant decrease in mental health of participants who lost their jobs during COVID-19, while participants who continued to physically attend work, maintained pre-COVID-19 levels on all assessed variables. Participants who transitioned to remote-work from home, showed a marginally significant deterioration in mental health and a significant decrease in satisfaction of work-related psychological needs for competence and autonomy. Qualitative accounts supplement these findings and portray advantages and disadvantages of remote-work.

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14. Goldfarb Y, Zafrani O, Hedley D, Yaari M, Gal E. Autistic adults’ subjective experiences of hoarding and self-injurious behaviors. Autism. 2021 : 1362361321992640.

Hoarding and self-injurious behaviors are relatively common in autism, but knowledge about their expressions in adulthood is scarce. Through interviews collecting subjective experiences of autistic adults, these behaviors were explored, and categorized to their underlying purposes. Findings portray the occurrence of these behaviors in the lives of autistic adults, their self-regulatory purposes, and their relationship to other behaviors in the domain of Restrictive and Repetitive Behaviors and Interests.

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15. Havdahl A, Niarchou M, Starnawska A, Uddin M, van der Merwe C, Warrier V. Genetic contributions to autism spectrum disorder. Psychological medicine. 2021 : 1-14.

Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental conditions characterized by early childhood-onset impairments in communication and social interaction alongside restricted and repetitive behaviors and interests. This review summarizes recent developments in human genetics research in autism, complemented by epigenetic and transcriptomic findings. The clinical heterogeneity of autism is mirrored by a complex genetic architecture involving several types of common and rare variants, ranging from point mutations to large copy number variants, and either inherited or spontaneous (de novo). More than 100 risk genes have been implicated by rare, often de novo, potentially damaging mutations in highly constrained genes. These account for substantial individual risk but a small proportion of the population risk. In contrast, most of the genetic risk is attributable to common inherited variants acting en masse, each individually with small effects. Studies have identified a handful of robustly associated common variants. Different risk genes converge on the same mechanisms, such as gene regulation and synaptic connectivity. These mechanisms are also implicated by genes that are epigenetically and transcriptionally dysregulated in autism. Major challenges to understanding the biological mechanisms include substantial phenotypic heterogeneity, large locus heterogeneity, variable penetrance, and widespread pleiotropy. Considerable increases in sample sizes are needed to better understand the hundreds or thousands of common and rare genetic variants involved. Future research should integrate common and rare variant research, multi-omics data including genomics, epigenomics, and transcriptomics, and refined phenotype assessment with multidimensional and longitudinal measures.

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16. Ismail MF, Safii R, Saimon R, Rahman MM. Quality of Life Among Malaysian Parents with Autism Spectrum Disorder Child : The Double ABCX Model Approach. J Autism Dev Disord. 2021.

This paper reported the quality of life (QoL) of 260 Malaysian parents with autism spectrum disorder (ASD) and factors which influencing it. About half of these parents reported to having good QoL. The factors identified in the double ABCX model showed that perceived social support and sense of coherence (SOC) were mediated by coping strategies and had a positive direct and indirect effect on parents’ QoL. These finding reiterate the importance of social support, coping skills, and strong SOC reflection skills in influencing the QoL of parents with ASD child. We therefore suggest parents to utilize the widely available social and organization supports to gain good QoL, which is also important for the wellbeing of their child.

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17. Juvin J, Sadeg S, Julien-Sweerts S, Zebdi R. A Systematic Review : Acceptance and Commitment Therapy for the Parents of Children and Adolescents with Autism Spectrum Disorder. J Autism Dev Disord. 2021.

This systematic review investigated the effectiveness of acceptance and commitment therapy for the parents of children with autism spectrum disorder. PsychInfo, CINAHL, PubMed, Science Direct, and Psychology and Behavioral Sciences Collection were searched using the terms « acceptance and commitment », « autism » and « parent ». A total of eight articles met the eligibility criteria. One study was a randomized controlled trial, one was quasi-experimental, and the other six were exploratory. Study outcomes concerned ACT processes, mental health, and quality of life. These studies showed that ACT interventions can be helpful for the parents of children with autism spectrum disorder. Nevertheless, as this field of research is relatively new, future research would benefit from creating a standard procedure and larger randomized controlled trials .

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18. Keshtkarjahromi M, Palvadi K, Shah A, Dempsey KR, Tonarelli S. Psychosis and Catatonia in Fragile X Syndrome. Cureus. 2021 ; 13(1) : e12843.

Fragile X syndrome is an inherited disorder with an X-linked dominant inheritance pattern that is the most commonly inherited cause of intellectual developmental disorder and has a strong association with autism spectrum disorder. This report describes the case of an 18-year-old male with fragile X syndrome and multiple psychiatric comorbidities who presented with new onset psychosis and catatonia.

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19. Kim M, Park C, Park M, You JSH. Comparative parenting stress measures between segmental and community-based rehabilitation services in parents of children and adolescents with intellectual and developmental disabilities (IDD) : A cross-sectional survey. Technology and health care : official journal of the European Society for Engineering and Medicine. 2021.

BACKGROUND : There is a dearth of information on the effects of different types (Segmental rehabilitation service (SRS) vs Community-based rehabilitation service (CRS)) on the parenting stress and family quality of life in parents of children who have individuals with intellectual and developmental disabilities (IDD). OBJECTIVE : This paper is to compare the effects of SRS and CRS on parenting stress and family quality of life in parents of individuals with IDD. METHODS : A cross-sectional design was used to examine parenting stress and family quality life in cohorts of 120 fathers and mothers of children with IDD who had received either SRS or CRS participated in the survey. The outcome measures included the modified Parenting Stress Index (PSI) and the modified Beach Center Family Quality of Life Scale (mBCFQLS). The Mann-Whitney U test was performed at P< 0.05. RESULTS : A significant difference was observed in social stress in PSI between the SRS and CRS groups (P= 0.03). The child rearing, emotional well-being, and physical and material well-being variables in mBCFQLS were different between the SRS and CRS groups (P< 0.05), indicating superior benefits from CRS than SRS. CONCLUSIONS : These findings provide important information and about parenting stress and family quality of life in children with IDD, for developing effective rehabilitation programs and services for these parents.

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20. Kuhn J, Levinson J, Udhnani MD, Wallis K, Hickey E, Bennett A, Fenick AM, Feinberg E, Broder-Fingert S. What Happens After a Positive Primary Care Autism Screen Among Historically Underserved Families ? Predictors of Evaluation and Autism Diagnosis. J Dev Behav Pediatr. 2021.

OBJECTIVE : Families, pediatric providers, and service systems would benefit from expanded knowledge regarding (1) who is most likely to receive a recommended diagnostic evaluation after a positive primary care-administered autism screen and (2) of those who screen positive, who is most likely to be diagnosed with autism ? METHOD : Participants included 309 predominantly low-income, racial/ethnic minority parents and their child, aged 15 to 27 months, who screened positive on the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F). Generalized estimating equations were used to fit models of predictors for each binary outcome : receiving a diagnostic evaluation and receiving an autism diagnosis on evaluation. RESULTS : Significant predictors of diagnostic evaluation receipt included the parent being older or non-Hispanic and the child having private insurance, lower child communication functioning, or receiving Early Intervention services. Significant predictors of an autism diagnosis on evaluation included male child, lower child communication functioning, screening directly in the parent’s preferred language, White/non-Hispanic parent, and no parent history of mood disorder. CONCLUSION : Children with younger parents, Hispanic ethnicity, relatively higher communication skills, public insurance, and no Early Intervention services were less likely to receive recommended diagnostic care. Reduced likelihood of autism diagnosis after a positive screen in non-White/non-Hispanic subgroups supports previous research indicating issues with M-CHAT-R/F positive predictive power for racial/ethnic minorities. The use of telephonic interpreters to administer screens, as opposed to directly screening in families’ preferred languages, may lead to identification of fewer true autism cases. Thus, multilingual clinical staff capacity may improve positive predictive power of autism screening.

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21. Mihaylova MS, Bocheva NB, Totev TT, Staykova SN. Visual Noise Effect on Contour Integration and Gaze Allocation in Autism Spectrum Disorder. Front Neurosci. 2021 ; 15 : 623663.

Contradictory results have been obtained in the studies that compare contour integration abilities in Autism Spectrum Disorders (ASDs) and typically developing individuals. The present study aimed to explore the limiting factors of contour integration ability in ASD and verify the role of the external visual noise by a combination of psychophysical and eye-tracking approaches. To this aim, 24 children and adolescents with ASD and 32 age-matched participants with typical development had to detect the presence of contour embedded among similar Gabor elements in a Yes/No procedure. The results obtained showed that the responses in the group with ASD were not only less accurate but also were significantly slower compared to the control group at all noise levels. The detection performance depended on the group differences in addition to the effect of the intellectual functioning of the participants from both groups. The comparison of the agreement and accuracy of the responses in the double-pass experiment showed that the results of the participants with ASD are more affected by the increase of the external noise. It turned out that the internal noise depends on the level of the added external noise : the difference between the two groups was non-significant at the low external noise and significant at the high external noise. In accordance with the psychophysical results, the eye-tracking data indicated a larger gaze allocation area in the group with autism. These findings may imply higher positional uncertainty in ASD due to the inability to maintain the information of the contour location from previous presentations and interference from noise elements in the contour vicinity. Psychophysical and eye-tracking data suggest lower efficiency in using stimulus information in the ASD group that could be caused by fixation instability and noisy and unstable perceptual template that affects noise filtering.

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22. Nezgovorova V, Ferretti CJ, Taylor BP, Shanahan E, Uzunova G, Hong K, Devinsky O, Hollander E. Potential of cannabinoids as treatments for autism spectrum disorders. Journal of psychiatric research. 2021 ; 137 : 194-201.

Current treatments for autism spectrum disorders (ASD) are limited in efficacy and are often associated with substantial side effects. These medications typically ameliorate problem behaviors associated with ASD, but do not target core symptom domains. As a result, there is a significant amount of research underway for development of novel experimental therapeutics. Endocannabinoids are arachidonic acid-derived lipid neuromodulators, which, in combination with their receptors and associated metabolic enzymes, constitute the endocannabinoid (EC) system. Cannabinoid signaling may be involved in the social impairment and repetitive behaviors observed in those with ASD. In this review, we discuss a possible role of the EC system in excitatory-inhibitory (E-I) imbalance and immune dysregulation in ASD. Novel treatments for the core symptom domains of ASD are needed and phytocannabinoids could be useful experimental therapeutics for core symptoms and associated domains.

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23. Ni HC, Chen YL, Chao YP, Wu CT, Wu YY, Liang SH, Chin WC, Chou TL, Gau SS, Huang YZ, Lin HY. Intermittent theta burst stimulation over the posterior superior temporal sulcus for children with autism spectrum disorder : A 4-week randomized blinded controlled trial followed by another 4-week open-label intervention. Autism. 2021 : 1362361321990534.

Intermittent theta burst stimulation is a varied form of repetitive transcranial magnetic non-invasive brain stimulation technique used to treat several neurological and psychiatric disorders. Its feasibility and therapeutic effects on the bilateral posterior superior temporal sulcus in children with autism are unknown. We conducted a single-blind, sham-controlled parallel randomized clinical trial in a hitherto largest sample of intellectually able children with autism (N = 78). Participants randomized to the active group received two-session/week intermittent theta burst stimulation for continuous 8 weeks. Those in the sham group received two-session/week sham stimulations in the first 4 weeks and then active intervention for the following 4 weeks after unblinding. First, we found that continuous 8-week intermittent theta burst stimulation on the bilateral posterior superior temporal sulcus in children with autism is safe and tolerable. Second, we found that 8-week intermittent theta burst stimulation produced greater therapeutic efficacy, although we did not find any significant effects of 4-week intermittent theta burst stimulation on core symptoms and social cognitive performances in autism. Further analysis revealed that participants with higher intelligence and better social cognitive performance, alongside less attention-deficit hyperactivity disorder severity at baseline, were more likely to be responders. This study identified that the factors contribute to responders and the results suggest that longer courses of non-invasive brain stimulation may be needed to produce therapeutic benefits in autism, with consideration of heterogeneous responses.

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24. Rashid A. Yonder : Autism, home visits, suicidal ideation, and young sudden cardiac death. The British journal of general practice : the journal of the Royal College of General Practitioners. 2021 ; 71(704) : 129.

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25. Shi K, Zhang L, Yu J, Chen Z, Lai S, Zhao X, Li WG, Luo Q, Lin W, Feng J, Bork P, Zhao XM, Li F. A 12-genus bacterial signature identifies a group of severe autistic children with differential sensory behavior and brain structures. Clinical and translational medicine. 2021 ; 11(2) : e314.

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26. Sicherman N, Charite J, Eyal G, Janecka M, Loewenstein G, Law K, Lipkin PH, Marvin AR, Buxbaum JD. Clinical signs associated with earlier diagnosis of children with autism Spectrum disorder. BMC pediatrics. 2021 ; 21(1) : 96.

BACKGROUND : The objective of this study is to gain new insights into the relationship between clinical signs and age at diagnosis. METHOD : We utilize a new, large, online survey of 1743 parents of children diagnosed with ASD, and use multiple statistical approaches. These include regression analysis, factor analysis, and machine learning (regression tree). RESULTS : We find that clinical signs that most strongly predict early diagnosis are not necessarily specific to autism, but rather those that initiate the process that eventually leads to an ASD diagnosis. Given the high correlations between symptoms, only a few signs are found to be important in predicting early diagnosis. For several clinical signs we find that their presence and intensity are positively correlated with delayed diagnosis (e.g., tantrums and aggression). Even though our data are drawn from parents’ retrospective accounts, we provide evidence that parental recall bias and/or hindsight bias did not play a significant role in shaping our results. CONCLUSION : In the subset of children without early deficits in communication, diagnosis is delayed, and this might be improved if more attention will be given to clinical signs that are not necessarily considered as ASD symptoms. Our findings also suggest that careful attention should be paid to children showing excessive tantrums or aggression, as these behaviors may interfere with an early ASD diagnoses.

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27. Su T, Pei L. Acupuncture and oxytocinergic system : The promising treatment for autism. Transl Neurosci. 2021 ; 12(1) : 96-102.

Autism spectrum disorder (ASD) is a group of heterogeneous neurodevelopmental disorders characterized by impairments activities without efficient pharmacological therapies in social interaction, speech and stereotypic patterns. Clinical studies have shown the efficacy of acupuncture as an alternative therapy for autism. The effectiveness of acupuncture as an alternative treatment for autism has been demonstrated through clinical trials. However, the molecular mechanisms that underlie these effects remain unclear. Due to its profound pro-social, anxiolytic, stress management effects, and its potential use for the treatment of psychiatric disorders associated with altered socioemotional competence, oxytocin (OT) released from the hypothalamus has attracted considerable interest. In the past decade, a number of clinical and animal studies have shown that OT administration effectively reduces core symptoms of ASD, especially social behavior deficits. Recently, the endocannabinoid system has emerged as a promising target for the treatment of autism. OT was found to facilitate the endocannabinoid-mediated social reward processes in the nucleus accumbens of the mouse brain. Furthermore, serotonin and dopamine are involved in the reward response mediated by OT. In view of these findings, we conclude that acupuncture may produce therapeutic effects on autism by triggering the hypothalamic oxytocin system, which in turn activates the release of neurotransmitters such as endocannabinoids, dopamine and serotonin. This would be a valuable guide for further research on the mechanism of treatment of autism with acupuncture.

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28. Timko CA, Herrington JD, Bhattacharya A, Kuschner ES, Yerys BE. Caregiver Report of Executive Functioning in Adolescent Females With Anorexia Nervosa or Autism Spectrum Disorder. Front Psychol. 2020 ; 11 : 586264.

Current literature suggesting a shared endophenotype between individuals with anorexia nervosa (AN) and autism spectrum disorder (ASD) related to executive functioning (EF) has several limitations : performance-based instead of ecologically valid measures of set-shifting are used, lack of comparisons between same-sex groups, and reliance on adult samples only. This was the first study directly comparing female youth with ASD to female youth with AN using an ecologically valid measure of EF. A secondary data analysis combined caregiver-reported EF on the Behavior Rating Inventory of Executive Functioning (BRIEF) for 22 female adolescent youth with AN and 29 female adolescent youth with ASD. EF in each group was compared to population norms, and EF was compared between groups. Compared to population norms, adolescents with AN had elevated scores on shift, initiate, and emotional control scales, and adolescents with ASD had elevated scores on all scales of the BRIEF and were more likely to have scores in the clinical range. There were significant differences between groups on all but three scales. The cognitive profiles and clinical scores of AN females were not comparable to those of ASD females. The findings reveal a clear clinical impairment in females with ASD but not in females with AN. The results do not support the hypothesis of similar real-world EF profiles between these groups. The results encourage further exploration into the similarities and distinctions between these two disorders.

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29. Wang L, Li D, Pan S, Zhai J, Xia W, Sun C, Zou M. The relationship between 2019-nCoV and psychological distress among parents of children with autism spectrum disorder. Globalization and health. 2021 ; 17(1) : 23.

OBJECTIVES : The psychological distress caused by COVID-19 may be pronounced among the parents of children with autism spectrum disorder (ASD). This study aimed to investigate psychological distress among parents of children with ASD during the COVID-19 pandemic. METHODS : A total of 1764 parents of children with ASD and 4962 parents of typically developing (TD) children were recruited. The participants completed an online survey which contained demographic information, the impact due to COVID-19 crisis, resilience, coping styles, anxiety and depression. Hierarchical linear regression was used to assess the contributions of these variables to anxiety and depression. RESULTS : After adjusting for demographic variables, the following factors were associated with parents’ anxiety and depression symptoms : (i) Whether or not the participants had a child with ASD ; (ii) resilience ; (iii) coping strategies, and ; (iv) the impact due to COVID-19. Among these, the psychological stress caused by COVID-19 played the most important role in parental anxiety (β = 0.353) and depression (β = 0.242) symptoms. Parents of children with ASD had lower levels of resilience and positive coping, and used more negative coping strategies than parents of TD children. Among all participants, 8.0 and 24.2% of parents had symptoms of anxiety and depression, respectively. Compared to parents of TD children, more parents of children with ASD exhibited symptoms of anxiety and depression (12.2% vs. 6.6% ; 31.0% vs. 21.7%, respectively). CONCLUSIONS : During the COVID-19 pandemic, parents experienced varying levels of anxiety and depression, particularly, parents of children with ASD. More specific attention should be paid to parental mental health and long-term effective intervention programs, that are targeted towards parents of children with ASD, and such programs should be promoted around China in the wake of the COVID-19 crisis.

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30. Wang Y, Lin J, Zeng Y, Liu Y, Li Y, Xia K, Zhao J, Shen Y, Ou J. Effects of Sleep Disturbances on Behavioral Problems in Preschool Children With Autism Spectrum Disorder. Frontiers in psychiatry. 2020 ; 11 : 559694.

Study Objectives : This study aims to identify the characteristic sleep disturbances that affect behavioral problems in children with autism spectrum disorder (ASD), providing a potential direction for sleep and behavioral intervention in ASD. Methods : The data of 513 children with ASD and 246 typically developing (TD) children aged between 2 and 5 years old were collected. The behavior performance of preschool children was assessed using the Child Behavior Checklist for 1.5-5.0 years old. The Children’s Sleep Habits Questionnaire (CSHQ) was used to measure the sleep status of the children, and the Social Responsiveness Scale was used to measure the severity of disorder. Linear regression analysis was performed to examine the effects of sleep disturbances on behavioral problems, and independent-sample t-test was performed to compare the mean of the samples. Results : Compared to TD children, children with ASD had longer sleep onset delay and more night awakenings. The parasomnias score (a subscale of the CSHQ) was significantly associated with the internalizing (β = 0.113, P = 0.010), externalizing (β = 0.128, P = 0.006), and total problems (β = 0.143, P = 0.001) of children with ASD, while this association was not significant in TD children. « Bed wetting » and « restless and moves a lot » (two items in the CSHQ under parasomnia) significantly only affected the overall behavioral score in children with ASD (P < 0.05). Conclusion : Parasomnias, especially bed wetting and restlessness, are specifically associated with the behavioral problems of children with ASD rather than TD children.

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31. Weissheimer G, Mazza VA, Freitas C, Silva SRD. Informational support for families of children with autism spectrum disorder. Revista gaucha de enfermagem. 2021 ; 42 : e20200076.

OBJECTIVE : To identify the sources of informational support used by families of children with Autism Spectrum Disorder. METHOD : Qualitative and descriptive research carried out in three health institutions and three teaching institutions in Paraná, Ceará and Amapá. 55 family members participated who responded to semi-structured interviews, between September 2018 and 2019. Thematic categorical analysis and the resources of Qualitative Data Analysis Software were used. RESULTS : Families find informational support from several sources, both formal and informal, such as the internet and other sources (books, Workshops, courses, television). CONCLUSION : Families use different sources of information, however, often incomplete and contradictory, which can generate a new demand on health professionals, in order to integrate access to information in the health care process, since they must be considering benefits and weaknesses that this represents for society.

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32. Widyawati Y, Scholte RHJ, Kleemans T, Otten R. Positive parenting and its mediating role in the relationship between parental resilience and quality of life in children with developmental disabilities in Java Island, Indonesia. Res Dev Disabil. 2021 ; 112 : 103911.

BACKGROUNDS : Developmental disabilities exert severe physical, cognitive and social-emotional consequences, such as low quality of life, not only on children but also on their families. However, the extent of the effect of such consequences on quality of life is partially dependent on how parents address the situation. AIMS : The study aimed to examine whether positive parenting mediates the link between parental resilience and quality of life of children with a developmental disability in Indonesia. METHODS AND PROCEDURES : Data were derived from a three-wave longitudinal study on 497, 224 and 209 families in waves one, two and three, respectively. The study determined parental resilience by assessing the knowledge of parents about the characteristics of their child, perceived social support and positive perception of parenting. Quality of life consisted of five aspects : material well-being, communication and influence, socio-emotional well-being, development and activity. Positive parenting was assessed through observed levels of support, encouragement and praise. CONCLUSIONS AND IMPLICATIONS : The results demonstrated that positive parenting mediated the impact of positive perception of parenting on quality of life. This finding implies that positive perception and positive parenting should be encouraged when families with children with developmental disabilities receive care or support.

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33. Wilkinson CL, Nelson CA. Increased aperiodic gamma power in young boys with Fragile X Syndrome is associated with better language ability. Mol Autism. 2021 ; 12(1) : 17.

BACKGROUND : The lack of robust and reliable clinical biomarkers in Fragile X Syndrome (FXS), the most common inherited form of intellectual disability, has limited the successful translation of bench-to-bedside therapeutics. While numerous drugs have shown promise in reversing synaptic and behavioral phenotypes in mouse models of FXS, none have demonstrated clinical efficacy in humans. Electroencephalographic (EEG) measures have been identified as candidate biomarkers as EEG recordings of both adults with FXS and mouse models of FXS consistently exhibit alterations in resting state and task-related activity. However, the developmental timing of these EEG differences is not known as thus far EEG studies have not focused on young children with FXS. Further, understanding how EEG differences are associated with core symptoms of FXS is crucial to successful use of EEG as a biomarker, and may improve our understanding of the disorder. METHODS : Resting-state EEG was collected from FXS boys with full mutation of Fmr1 (2.5-7 years old, n = 11) and compared with both age-matched (n = 12) and cognitive-matched (n = 12) typically developing boys. Power spectra (including aperiodic and periodic components) were compared using non-parametric cluster-based permutation testing. Associations between 30 and 50 Hz gamma power and cognitive, language, and behavioral measures were evaluated using Pearson correlation and linear regression with age as a covariate. RESULTS : FXS participants showed increased power in the beta/gamma range ( 25-50 Hz) across multiple brain regions. Both a reduction in the aperiodic (1/f) slope and increase in beta/gamma periodic activity contributed to the significant increase in high-frequency power. Increased gamma power, driven by the aperiodic component, was associated with better language ability in the FXS group. No association was observed between gamma power and parent report measures of behavioral challenges, sensory hypersensitivities, or adaptive behaviors. LIMITATIONS : The study sample size was small, although comparable to other human studies in rare-genetic disorders. Findings are also limited to males in the age range studied. CONCLUSIONS : Resting-state EEG measures from this study in young boys with FXS identified similar increases in gamma power previously reported in adults and mouse models. The observed positive association between resting state aperiodic gamma power and language development supports hypotheses that alterations in some EEG measures may reflect ongoing compensatory mechanisms.

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34. Yang T, Zhu J, Li Q, Chen L, Wu LJ, Jia FY, Hao Y, Ke XY, Yi MJ, Jin CH, Chen J, Li TY. China Multi-Center Preschool Autism Project (CMPAP) : Design and Methodologies to Identify Clinical Symptom Features and Biomarkers of Autism Spectrum Disorders. Frontiers in psychiatry. 2020 ; 11 : 613519.

Background : The etiology of autism spectrum disorder (ASD) has not yet been fully identified, but it seems to be triggered by complex genetic and environmental risk factors. Moreover, the tremendous etiological and clinical differences among individuals with ASD has had a major negative impact on early diagnosis and individualized treatment. Earlier diagnosis of precise clinical subtypes of ASD could lead to individualized treatment and a better prognosis. However, few large-scale epidemiological studies have explored precise clinical subtypes and clinically meaningful biomarkers, especially in China. Methods and Design : The China Multi-center Preschool Autism Project (CMPAP) includes nearly 3,000 children-1,469 individuals with ASD and 1,499 typically-developing (TD) controls-from 13 cities in China. Using a case-control design, each participant was comprehensively characterized in terms of feeding and disease history, maternal history, family history, clinical core symptoms, comorbidities, biochemical markers, genomics, urine/fecal metabonomics, and intestinal flora. In addition, data on environmental risk factors were obtained using interviews and electronic medical records. Conclusion : The study was designed to : (1) investigate age at diagnosis and treatment and family and social support for preschool children with ASD in China, (2) develop a more accurate clinical subtype and intervention system for the ICD-11, and (3) find the specific genes and environmental markers of different subtypes, which will help in the development of early diagnosis and individual intervention programs for preschool children with ASD. This study will provide the basis for improving national health policies for ASD in China.

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35. Żebrowska P, Łaczmańska I, Łaczmański Ł. Future Directions in Reducing Gastrointestinal Disorders in Children With ASD Using Fecal Microbiota Transplantation. Frontiers in cellular and infection microbiology. 2021 ; 11 : 630052.

Research on the use of fecal microbiota transplantation (FMT) in the treatment of disorders related to digestive system ailments in children with autism spectrum disorders (ASDs) is a new attempt in a therapeutic approach. There are very little scientific evidences available on this emerging alternative method. However, it appears to be interesting not only because of its primary outcome, relieving the gastrointestinal (GI) symptoms, but also secondary therapeutic effect of alleviating autistic behavioral symptoms. FMT seems to be also promising method in the treatment of another group of pediatric patients, children with inflammatory bowel disease (IBD). The aim of this study is to discuss the potential use of FMT and modified protocols (MTT, microbiota transfer therapy) in the treatment of GI disorders in ASD children supported by reports on another disease, IBD concerning pediatric patients. Due to the few reports of the use of FMT in the treatment of children, these two patients groups were selected, although suffering from distant health conditions : neurodevelopmental disorder and gastrointestinal tract diseases, because of the the fact that they seem related in aspects of the presence of GI symptoms, disturbed intestinal microbiota, unexplained etiology of the condition and age range of patients. Although the outcomes for all are promising, this type of therapy is still an under-researched topic, studies in the group of pediatric patients are sparse, also there is a high risk of transmission of infectious and noninfectious elements during the procedure and no long-term effects on global health are known. For those reasons all obtained results should be taken with a great caution. However, in the context of future therapeutic directions for GI observed in neurodevelopmental disorders and neurodegenerative diseases, the topic seems worthy of attention.

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