1. Achterberg EJM, Biemans B, Vanderschuren L. Neurexin1α knockout in rats causes aberrant social behaviour: relevance for autism and schizophrenia. Psychopharmacology (Berl);2024 (Feb 29)

RATIONALE: Genetic and environmental factors cause neuropsychiatric disorders through complex interactions that are far from understood. Loss-of-function mutations in synaptic proteins like neurexin1α have been linked to autism spectrum disorders (ASD) and schizophrenia (SCZ), both characterised by problems in social behaviour. Childhood social play behaviour is thought to facilitate social development, and lack of social play may precipitate or exacerbate ASD and SCZ. OBJECTIVE: To test the hypothesis that an environmental insult acts on top of genetic vulnerability to precipitate psychiatric-like phenotypes. To that aim, social behaviour in neurexin1α knockout rats was assessed, with or without deprivation of juvenile social play. We also tested drugs prescribed in ASD or SCZ to assess the relevance of this dual-hit model for these disorders. RESULTS: Neurexin1α knockout rats showed an aberrant social phenotype, with high amounts of social play, increased motivation to play, age-inappropriate sexual mounting, and an increase in general activity. Play deprivation subtly altered later social behaviour, but did not affect the phenotype of neurexin1α knockout rats. Risperidone and methylphenidate decreased play behaviour in both wild-type and knockout rats. Amphetamine-induced hyperactivity was exaggerated in neurexin1α knockout rats. CONCLUSION: Deletion of the neurexin1α gene in rats causes exaggerated social play, which is not modified by social play deprivation. This phenotype therefore resembles disinhibited behaviour rather than the social withdrawal seen in ASD and SCZ. The neurexin1α knockout rat could be a model for inappropriate or disinhibited social behaviour seen in childhood mental disorders.

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2. Ahmed M, Sikandar E, Javid A. Autism spectrum disorder – the fight of the public against a disease it fails to understand. J Pak Med Assoc;2024 (Feb);74(2):427.

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3. Aydin E, Tsompanidis A, Chaplin D, Hawkes R, Allison C, Hackett G, Austin T, Padaigaitė E, Gabis LV, Sucking J, Holt R, Baron-Cohen S. Fetal brain growth and infant autistic traits. Mol Autism;2024 (Feb 28);15(1):11.

BACKGROUND: Structural differences exist in the brains of autistic individuals. To date only a few studies have explored the relationship between fetal brain growth and later infant autistic traits, and some have used fetal head circumference (HC) as a proxy for brain development. These findings have been inconsistent. Here we investigate whether fetal subregional brain measurements correlate with autistic traits in toddlers. METHODS: A total of 219 singleton pregnancies (104 males and 115 females) were recruited at the Rosie Hospital, Cambridge, UK. 2D ultrasound was performed at 12-, 20- and between 26 and 30 weeks of pregnancy, measuring head circumference (HC), ventricular atrium (VA) and transcerebellar diameter (TCD). A total of 179 infants were followed up at 18-20 months of age and completed the quantitative checklist for autism in toddlers (Q-CHAT) to measure autistic traits. RESULTS: Q-CHAT scores at 18-20 months of age were positively associated with TCD size at 20 weeks and with HC at 28 weeks, in univariate analyses, and in multiple regression models which controlled for sex, maternal age and birth weight. LIMITATIONS: Due to the nature and location of the study, ascertainment bias could also have contributed to the recruitment of volunteer mothers with a higher than typical range of autistic traits and/or with a significant interest in the neurodevelopment of their children. CONCLUSION: Prenatal brain growth is associated with toddler autistic traits and this can be ascertained via ultrasound starting at 20 weeks gestation.

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4. Bennert K, Brosnan M, Canning A, Roberts G, Russell A. Paranoia and Data-Gathering Biases in Autism. J Autism Dev Disord;2024 (Feb 29)

Previous research has identified contradictory patterns in autism upon probabilistic reasoning tasks, and high levels of self-report paranoia symptoms have also been reported. To explore this relationship, the present study assessed 64 non-autistic and 39 autistic adults on two variants of a probabilistic reasoning task which examined the amount of evidence required before making a decision and ‘jumping to conclusions’ (a neutral beads task and an emotionally-salient words variant). The autism group was found to require significantly more evidence before making a decision and to have significantly less jumping to conclusions than the non-autistic group. For those with relatively low levels of paranoia, the emotionally-salient variant impacted on the non-autistic group, but not the autism group.

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5. Bothe E, Jeffery L, Dawel A, Donatti-Liddelow B, Palermo R. Autistic traits are associated with differences in the perception of genuineness and approachability in emotional facial expressions, independently of alexithymia. Emotion;2024 (Feb 29)

People with autism and higher levels of autistic traits often have difficulty interpreting facial emotion. Research has commonly investigated the association between autistic traits and expression labeling ability. Here, we investigated the association between two relatively understudied abilities, namely, judging whether expressions reflect genuine emotion, and using expressions to make social approach judgements, in a nonclinical sample of undergraduates at an Australian university (N = 149; data collected during 2018). Autistic traits were associated with more difficulty discriminating genuineness and less typical social approach judgements. Importantly, we also investigated whether these associations could be explained by the co-occurring personality trait alexithymia, which describes a difficulty interpreting one’s own emotions. Alexithymia is hypothesized to be the source of many emotional difficulties experienced by autistic people and often accounts for expression labeling difficulties associated with autism and autistic traits. In contrast, the current results provided no evidence that alexithymia is associated with differences in genuineness discrimination and social approach judgements. Rather, differences varied as a function of individual differences in specific domains of autistic traits. More autistic-like social skills and communication predicted greater difficulty in genuineness discrimination, and more autistic-like social skills and attention to details and patterns predicted differences in approach judgements. These findings suggest that difficulties in these areas are likely to be better understood as features of the autism phenotype than of alexithymia. Finally, results highlight the importance of considering the authenticity of emotional expressions, with associations between differences in approach judgements being more pronounced for genuine emotional expressions. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

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6. Brian JA, Dowds EM, Bernardi K, Velho A, Kantawalla M, de Souza N. Transporting and implementing a caregiver-mediated intervention for toddlers with autism in Goa, India: evidence from the social ABCs. Front Rehabil Sci;2024;5:1214009.

INTRODUCTION: Autism is a global health priority with an urgent need for evidence-based, resource-efficient, scalable supports that are feasible for implementation in low- and middle-income countries (LMICs). Initiating supports in the toddler years has potential to significantly impact child and family outcomes. The current paper describes the feasibility and outcomes associated with a Canadian-developed caregiver-mediated intervention for toddlers (the Social ABCs), delivered through a clinical service in Goa, India. METHODS: Clinical staff at the Sethu Centre for Child Development and Family Guidance in Goa, India, were trained by the Canadian program development team and delivered the program to families seen through their clinic. Using a retrospective chart review, we gathered information about participating families and used a pre-post design to examine change over time. RESULTS: Sixty-four families were enrolled (toddler mean age = 28.5 months; range: 19-35), of whom 55 (85.94%) completed the program. Video-coded data revealed that parents learned the strategies (implementation fidelity increased from M = 45.42% to 76.77%, p < .001, with over 90% of caregivers attaining at least 70% fidelity). Toddler responsivity to their caregivers (M = 7.00% vs. 46.58%) and initiations per minute (M = 1.16 vs. 3.49) increased significantly, p's < .001. Parents also reported significant improvements in child behaviour/skills (p < .001), and a non-significant trend toward reduced parenting stress (p = .056). DISCUSSION: Findings corroborate the emerging evidence supporting the use of caregiver-mediated models in LMICs, adding evidence that such supports can be provided in the very early years (i.e., under three years of age) when learning may be optimized.

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7. Cantando I, Centofanti C, D’Alessandro G, Limatola C, Bezzi P. Metabolic dynamics in astrocytes and microglia during post-natal development and their implications for autism spectrum disorders. Front Cell Neurosci;2024;18:1354259.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by elusive underlying mechanisms. Recent attention has focused on the involvement of astrocytes and microglia in ASD pathology. These glial cells play pivotal roles in maintaining neuronal homeostasis, including the regulation of metabolism. Emerging evidence suggests a potential association between ASD and inborn errors of metabolism. Therefore, gaining a comprehensive understanding of the functions of microglia and astrocytes in ASD is crucial for the development of effective therapeutic interventions. This review aims to provide a summary of the metabolism of astrocytes and microglia during post-natal development and the evidence of disrupted metabolic pathways in ASD, with particular emphasis on those potentially important for the regulation of neuronal post-natal maturation by astrocytes and microglia.

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8. Capriola-Hall NN, Wieckowski AT, Swain D, Aly S, Youssef A, Abbott AL, White SW. Corrigendum to « Group Differences in Facial Emotion Expression in Autism: Evidence for the Utility of Machine Classification » [Behav. Therapy 50(4) (2019) 828-838]. Behav Ther;2024 (Mar);55(2):430.

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9. Chen HD, Li L, Yu F, Sam Ma Z. A comprehensive diversity analysis on the gut microbiomes of ASD patients: from alpha, beta to gamma diversities. FEMS Microbiol Lett;2024 (Feb 28)

Autism spectrum disorder (ASD) is estimated to influence as many as 1% children worldwide, but its etiology is still unclear. It has been suggested that gut microbiomes play an important role in regulating abnormal behaviors associated with ASD. A de facto standard analysis on the microbiome-associated diseases has been diversity analysis, and nevertheless, existing studies on ASD-microbiome relationship have not produced a consensus. Here, we perform a comprehensive analysis of the diversity changes associated with ASD involving alpha-, beta-, and gamma-diversity metrics, based on 8 published datasets consisting of 898 ASD samples and 467 healthy controls (HC) from 16S-rRNA sequencing. Our findings include: (i) In terms of alpha-diversity, in approximately 1/3 of the studies cases, ASD patients exhibited significantly higher alpha-diversity than the HC, which seems to be consistent with the « 1/3 conjecture » of diversity-disease relationship (DDR). (ii) In terms of beta-diversity, the AKP (Anna Karenina principle) that predict all healthy microbiomes should be similar, and every diseased microbiome should be dissimilar in its own way seems to be true in approximately 1/2 to 3/4 studies cases. (iii) In terms of gamma-diversity, the DAR (diversity-area relationship) modeling suggests that ASD patients seem to have large diversity-area scaling parameter than the HC, which is consistent with the AKP results. However, the MAD (maximum accrual diversity) and RIP (ratio of individual to population diversity) parameters did not suggest significant differences between ASD patients and HC. Throughout the study, we adopted Hill numbers to measure diversity, which stratified the diversity measures in terms of the rarity-commonness-dominance spectrum. It appears that the differences between ASD patients and HC are more propounding on rare-species side than on dominant-species side. Finally, we discuss the apparent inconsistent diversity-ASD relationships among different case studies and postulate that the relationships are not monotonic.

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10. Hamzic E, Spahic L, Pistoljevic N, Dzanko E, Pasic S, Kadric L, Serdarevic F, Hajdarpasic A. Exploratory genetic analysis in children with autism spectrum disorder and other developmental disorders using whole exome sequencing. Biomol Biomed;2024 (Feb 6)

Developmental disorders (DDs), such as autism spectrum disorder (ASD), incorporate various conditions; once identified, further diagnostics are necessary to specify their type and severity. The aim of this exploratory study was to identify genetic variants that can help differentiate ASD early from other DDs. We selected 36 children (mean age 60.1 months) with DDs using Developmental Behavioral Scales (DBS) through « EDUS-Education for All », an organization providing services for children with developmental disorders in Bosnia and Herzegovina. We further rated children’s autistic traits with the preschool version of the Childhood Autism Rating Scale, second edition (CARS-II). We defined ASD if scores were >25.5 and other DDs if scores were <25.5. Diagnosis of ASD and DD were independently confirmed by child psychiatrists. Whole exome sequencing (WES) was performed by Veritas Genetics, USA, using Illumina NovaSeq 6000 (Illumina Inc., San Diego, CA, USA) next-generation sequencing (NGS) apparatus. We tested genetic association by applying SKAT-O, which optimally combines the standard Sequence Kernel Association Test (SKAT) and burden tests to identify rare variants associated with complex traits in samples of limited power. The analysis yielded seven genes (DSE, COL10A1, DLK2, CSMD1, FAM47E, PPIA, PYDC2) to potentially differentiate observed phenotypic characteristics between our cohort participants with ASD and other DDs. Our exploratory study in a small sample of participants with ASD and other DDs contributed to gene discovery in differentiating ASD from DDs. A replication study is needed in a larger sample to confirm our results.

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11. Li H, Guo W, Li S, Sun B, Li N, Xie D, Dong Z, Luo D, Chen W, Fu W, Zheng J, Zhu J. Alteration of the gut microbiota profile in children with autism spectrum disorder in China. Front Microbiol;2023;14:1326870.

BACKGROUND: Autism spectrum disorder (ASD) is associated with alterations in the gut microbiome. However, there are few studies on gut microbiota of children with ASD in China, and there is a lack of consensus on the changes of bacterial species. PURPOSE: Autism spectrum disorder (ASD) is associated with alterations in the gut microbiome. However, there are few studies on gut microbiota of children with ASD in China, and there is a lack of consensus on the changes of bacterial species. METHODS: We used 16S rRNA sequencing to analyze ASD children (2 to 12 years), HC (2 to 12 years). RESULTS: Our findings showed that the α-diversity, composition, and relative abundance of gut microbiota in the ASD group were significantly different from those in the HC groups. Compared with the HC group, the α-diversity in the ASD group was significantly decreased. At the genus level, the relative abundance of g_Faecalibacterium, g_Blautia, g_Eubacterium_eligens_group, g_Parasutterella, g_Lachnospiraceae_NK4A136_group and g_Veillonella in ASD group was significantly increased than that in HC groups, while the relative abundance of g_Prevotella 9 and g_Agathobacter was significantly decreased than that in HC groups. In addition, KEGG pathway analysis showed that the microbial functional abnormalities in ASD patients were mainly concentrated in metabolic pathways related to fatty acid, amino acid metabolism and aromatic compound metabolism, and were partially involved in neurotransmitter metabolism. CONCLUSION: This study revealed the characteristics of gut microbiota of Chinese children with ASD and provided further evidence of gut microbial dysbiosis in ASD.

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12. Li H, Huang S, Jing J, Yu H, Gu T, Ou X, Pan S, Zhu Y, Su X. Dietary intake and gastrointestinal symptoms are altered in children with Autism Spectrum Disorder: the relative contribution of autism-linked traits. Nutr J;2024 (Feb 28);23(1):27.

BACKGROUND: Dietary and gastrointestinal (GI) problems have been frequently reported in autism spectrum disorder (ASD). However, the relative contributions of autism-linked traits to dietary and GI problems in children with ASD are poorly understood. This study firstly compared the dietary intake and GI symptoms between children with ASD and typically developing children (TDC), and then quantified the relative contributions of autism-linked traits to dietary intake, and relative contributions of autism-linked traits and dietary intake to GI symptoms within the ASD group. METHODS: A sample of 121 children with ASD and 121 age-matched TDC were eligible for this study. The dietary intake indicators included food groups intakes, food variety, and diet quality. The autism-linked traits included ASD symptom severity, restricted repetitive behaviors (RRBs), sensory profiles, mealtime behaviors, and their subtypes. Linear mixed-effects models and mixed-effects logistic regression models were used to estimate the relative contributions. RESULTS: Children with ASD had poorer diets with fewer vegetables/fruits, less variety of food, a higher degree of inadequate/unbalanced dietary intake, and more severe constipation/total GI symptoms than age-matched TDC. Within the ASD group, compulsive behavior (a subtype of RRBs) and taste/smell sensitivity were the only traits associated with lower vegetables and fruit consumption, respectively. Self-injurious behavior (a subtype of RRBs) was the only contributing trait to less variety of food. Limited variety (a subtype of mealtime behavior problems) and ASD symptom severity were the primary and secondary contributors to inadequate dietary intake, respectively. ASD symptom severity and limited variety were the primary and secondary contributors to unbalanced dietary intake, respectively. Notably, unbalanced dietary intake was a significant independent factor associated with constipation/total GI symptoms, and autism-linked traits manifested no contributions. CONCLUSIONS: ASD symptom severity and unbalanced diets were the most important contributors to unbalanced dietary intake and GI symptoms, respectively. Our findings highlight that ASD symptom severity and unbalanced diets could provide the largest benefits for the dietary and GI problems of ASD if they were targeted for early detection and optimal treatment.

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13. Liu J, Tan Y, Zhang F, Wang Y, Chen S, Zhang N, Dai W, Zhou L, Li JC. Metabolomic analysis of plasma biomarkers in children with autism spectrum disorders. MedComm (2020);2024 (Mar);5(3):e488.

Autism spectrum disorder (ASD) presents a significant risk to human well-being and has emerged as a worldwide public health concern. Twenty-eight children with ASD and 33 healthy children (HC) were selected for the quantitative determination of their plasma metabolites using an ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) platform. A total of 1997 metabolites were detected in the study cohort, from which 116 metabolites were found to be differentially expressed between the ASD and HC groups. Through analytical algorithms such as least absolute shrinkage selection operator (LASSO), support vector machine (SVM), and random forest (RF), three potential metabolic markers were identified as FAHFA (18:1(9Z)/9-O-18:0), DL-2-hydroxystearic acid, and 7(S),17(S)-dihydroxy-8(E),10(Z),13(Z),15(E),19(Z)-docosapentaenoic acid. These metabolites demonstrated superior performance in distinguishing the ASD group from the HC group, as indicated by the area under curves (AUCs) of 0.935, 0.897, and 0.963 for the three candidate biomarkers, respectively. The samples were divided into training and validation sets according to 7:3. Diagnostic models were constructed using logistic regression (LR), SVM, and RF. The constructed three-biomarker diagnostic model also exhibited strong discriminatory efficacy. These findings contribute to advancing our understanding of the underlying mechanisms involved in the occurrence of ASD and provide a valuable reference for clinical diagnosis.

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14. Mosconi MW, Stevens CJ, Unruh KE, Shafer R, Elison JT. Correction: Endophenotype trait domains for advancing gene discovery in autism spectrum disorder. J Neurodev Disord;2024 (Feb 28);16(1):4.

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15. Pokoski OM, Crain H, DiGuiseppi C, Furnier SM, Moody EJ, Nadler C, Pazol K, Sanders J, Wiggins LD, Durkin MS. Economic impacts of the COVID-19 pandemic on families of children with autism and other developmental disabilities. Front Psychiatry;2024;15:1342504.

BACKGROUND: To control the spread of the coronavirus disease (COVID-19), many jurisdictions throughout the world enacted public health measures that had vast socio-economic implications. In emergency situations, families of children with developmental disabilities (DDs), including autism, may experience increased difficulty accessing therapies, economic hardship, and caregiver stress, with the potential to exacerbate autism symptoms. Yet, limited research exists on the economic impacts of the COVID-19 pandemic on families of children with autism or another DD compared to families of children from the general population. OBJECTIVES: To assess impact of the COVID-19 pandemic related to parental employment and economic difficulties in families of children with autism, another DD, and in the general population, considering potential modification by socioeconomic disadvantage before the pandemic and levels of child behavioral and emotional problems. METHODS: The Study to Explore Early Development (SEED) is a multi-site, multi-phase, case-control study of young children with autism or another DD as compared to a population comparison group (POP). During January-July 2021, a COVID-19 Impact Assessment Questionnaire was sent to eligible participants (n=1,789) who had enrolled in SEED Phase 3 from September 2017-March 2020. Parents completed a questionnaire on impacts of the pandemic in 2020 and completed the Child Behavior Checklist (CBCL) to measure behavioral and emotional health of their child during this time. Multiple logistic regression models were built for employment reduction, increased remote work, difficulty paying bills, or fear of losing their home. Covariates include group status (autism, DD, POP), household income at enrollment, child’s race and ethnicity, and binary CBCL Total Problems T-score (<60 vs. ≥60). Unadjusted and adjusted odds ratios (aOR) and 95% confidence intervals (CI) were calculated. RESULTS: The study included 274 children with autism, 368 children with another DD, and 385 POP children. The mean age of 6.1 years (standard deviation, 0.8) at the COVID-19 Impact Assessment did not differ between study groups. Parents of children with autism were less likely to transition to remote work (aOR [95% CI] = 0.6 [0.4, 1.0]) and more likely to report difficulty paying bills during the pandemic (1.8 [1.2, 2.9]) relative to parents of POP children. Lower income was associated with greater employment reduction, difficulty paying bills, and fear of losing their home, but inversely associated with transitioning to remote work. Parents of non-Hispanic (NH) Black children experienced greater employment reduction compared to parents of NH White children (1.9 [1.1, 3.0]). Parents from racial and ethnic minority groups were more likely to experience difficulty paying bills and fear losing their home, relative to NH White parents. Caregivers of children with CBCL scores in the clinical range were more likely to fear losing their home (2.1 [1.3, 3.4]). CONCLUSION: These findings suggest that families of children with autism, families of lower socio-economic status, and families of racial and ethnic minority groups experienced fewer work flexibilities and greater financial distress during the pandemic. Future research can be used to assess if these impacts are sustained over time.

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16. Pradeepan KS, McCready FP, Wei W, Khaki M, Zhang W, Salter MW, Ellis J, Martinez-Trujillo J. Calcium-Dependent Hyperexcitability in Human Stem Cell-Derived Rett Syndrome Neuronal Networks. Biol Psychiatry Glob Open Sci;2024 (Mar);4(2):100290.

BACKGROUND: Mutations in MECP2 predominantly cause Rett syndrome and can be modeled in vitro using human stem cell-derived neurons. Patients with Rett syndrome have signs of cortical hyperexcitability, such as seizures. Human stem cell-derived MECP2 null excitatory neurons have smaller soma size and reduced synaptic connectivity but are also hyperexcitable due to higher input resistance. Paradoxically, networks of MECP2 null neurons show a decrease in the frequency of network bursts consistent with a hypoconnectivity phenotype. Here, we examine this issue. METHODS: We reanalyzed multielectrode array data from 3 isogenic MECP2 cell line pairs recorded over 6 weeks (n = 144). We used a custom burst detection algorithm to analyze network events and isolated a phenomenon that we termed reverberating super bursts (RSBs). To probe potential mechanisms of RSBs, we conducted pharmacological manipulations using bicuculline, EGTA-AM, and DMSO on 1 cell line (n = 34). RESULTS: RSBs, often misidentified as single long-duration bursts, consisted of a large-amplitude initial burst followed by several high-frequency, low-amplitude minibursts. Our analysis revealed that MECP2 null networks exhibited increased frequency of RSBs, which produced increased bursts compared with isogenic controls. Bicuculline or DMSO treatment did not affect RSBs. EGTA-AM selectively eliminated RSBs and rescued network burst dynamics. CONCLUSIONS: During early development, MECP2 null neurons are hyperexcitable and produce hyperexcitable networks. This may predispose them to the emergence of hypersynchronic states that potentially translate into seizures. Network hyperexcitability depends on asynchronous neurotransmitter release that is likely driven by presynaptic Ca(2+) and can be rescued by EGTA-AM to restore typical network dynamics.

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17. Samadi SA. Handedness in autism spectrum disorders and intellectually disabled children and adolescents – Contrasting caregivers’ reports with assessments of hand preference. Heliyon;2024 (Feb 29);10(4):e25935.

BACKGROUND: A higher rate of atypical handedness prevalence (non-right-handedness or left-, mixed-hand dominance) has been recurrently reported in individuals diagnosed with autism spectrum disorder (ASD) compared to individuals with other types of developmental disabilities. However, the exact magnitude of this difference as well as the presence of possible contributing factors remained unknown. The main aim of this study was to understand caregivers’ impression of the handedness of their child with developmental disabilities and its relationship with assessments of the child using a hand preference scale. METHODS AND PROCEDURES: The sample of the present study was 1116 individuals with developmental disabilities from two countries, 541 (51.5%) individuals from Iran and 575 (48.5%) individuals from the Kurdistan Region of Iraq (KRI). The handedness of the sample was evaluated based on the parental report and utilizing a standardized scale (The Hand-Preference Demonstration Test « HPDT »). OUTCOMES AND RESULTS: There was a statistically significant difference between caregivers’ reports on their dependents’ handedness and the application of a valid hand preference scale and they do not necessarily overlap. There was a statistically significant relationship between handedness and type of developmental disabilities based on caregivers’ reports and individuals with ASD were more non-right-handed compared to individuals with ID based on the caregivers’ report. Hence similar difference was not seen between the ASD and ID groups when HDTP was applied as a diagnostic scale. While left-handedness in the ASD and ID group was similar (23-24%), mixed-handedness in the ASD group was 38% compared to 33% in the ID group. CONCLUSIONS AND IMPLICATIONS: The Hand-Preference Demonstration Test (HPDT) was a valid way to determine the hand preference of individuals with ASD and ID. It is concluded that parental reports on their offspring with ASD’s hand preference need to be approved through the application of a scale and caregivers and professionals need to be more aware of early motor symptoms such as handedness. Further research should focus on the role of handedness in the development of fine motor skills and eye-hand coordination in children with differing developmental disabilities and variations among those differing impairments.

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18. Shao M, Luo S, Qian H, Li X, Wei Z, Hong M, Wang J, Li X, Meng J. The relationship between autistic traits and the stress of social isolation: Development of an explanatory model. Heliyon;2024 (Feb 29);10(4):e26082.

BACKGROUND: Social isolation can be particularly challenging for individuals with high autistic traits who struggle with social interactions. The COVID-19 pandemic led to increased isolation, exacerbating stress for those who may have difficulty in connecting with others. This study aimed to explore the relationship between autistic traits and stress associated with social isolation. METHODS: A sample of 1597 Chinese adults completed measures of autistic traits, the stress of social isolation, psychological inflexibility and core self-evaluation, during an epidemic prevention and control period of COVID-19 in Chongqing, China. Measures included the Autism-Spectrum Quotient, Coronavirus Stress Measure, Acceptance and Action Questionnaire-II, and Core Self-Evaluation Scale. RESULTS: Autistic traits were positively correlated with the stress of social isolation, which was mediated by the chain effect of core self-evaluation and psychological inflexibility. individuals with high autistic traits reported significantly higher stress than individuals with low autistic traits. LIMITATIONS: This was a cross-sectional study, which limits causal inference. In addition, data were self-reported, which may cause methodological effects. Finally, this study was conducted during China’s quarantine policy and external validation of the findings is required. CONCLUSIONS: Autistic traits are positively associated with the stress of social isolation. Autistic traits affected core self-evaluation first, and psychological inflexibility subsequently, leading to the stress of social isolation. individuals with high autistic traits tended to experience higher levels of stress during pandemic quarantines. The findings provide useful evidence for developing interventions and implementing preventive measures to reduce stress in individuals with high autistic traits and autism spectrum disorder.

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19. Shilbayeh SAR, Adeen IS, Alhazmi AS, Aljurayb H, Altokhais RS, Alhowaish N, Aldilaijan KE, Kamal M, Alnakhli AM. The polymorphisms of candidate pharmacokinetic and pharmacodynamic genes and their pharmacogenetic impacts on the effectiveness of risperidone maintenance therapy among Saudi children with autism. Eur J Clin Pharmacol;2024 (Feb 29)

BACKGROUND: Antipsychotics, including risperidone (RIS), are frequently indicated for various autism spectrum disorder (ASD) manifestations; however, « actionable » PGx testing in psychiatry regarding antipsychotic dosing and selection has limited applications in routine clinical practice because of the lack of standard guidelines, mostly due to the inconsistency and scarcity of genetic variant data. The current study is aimed at examining the association of RIS effectiveness, according to ABC-CV and CGI indexes, with relevant pharmacokinetics (PK) and pharmacodynamics (PD) genes. METHODS: Eighty-nine ASD children who received a consistent RIS-based regimen for at least 8 weeks were included. The Axiom PharmacoFocus Array technique was employed to generate accurate star allele-predicted phenotypes of 3 PK genes (CYP3A4, CYP3A5, and CYP2D6). Genotype calls for 5 candidate PD receptor genes (DRD1, DRD2, DRD3, HTR2C, and HTR2A) were obtained and reported as wild type, heterozygous, or homozygous for 11 variants. RESULTS: Based on the ABC total score, 42 (47.2%) children were classified as responders, while 47 (52.8%) were classified as nonresponders. Multivariate logistic regression analyses, adjusted for nongenetic factors, suggested nonsignificant impacts of the star allele-predicted phenotypes of all 3 PK genes on improvement in ASD symptoms or CGI scores. However, significant positive or negative associations of certain PD variants involved in dopaminergic and serotonergic pathways were observed with specific ASD core and noncore symptom subdomains. Our significant polymorphism findings, mainly those in DRD2 (rs1800497, rs1799978, and rs2734841), HTR2C (rs3813929), and HTR2A (rs6311), were largely consistent with earlier findings (predictors of RIS effectiveness in adult schizophrenia patients), confirming their validity for identifying ASD children with a greater likelihood of core symptom improvement compared to noncarriers/wild types. Other novel findings of this study, such as significant improvements in DRD3 rs167771 carriers, particularly in ABC total and lethargy/social withdrawal scores, and DRD1 rs1875964 homozygotes and DRD2 rs1079598 wild types in stereotypic behavior, warrant further verification in biochemical and clinical studies to confirm their feasibility for inclusion in a PGx panel. CONCLUSION: In conclusion, we provide evidence of potential genetic markers involved in clinical response variability to RIS therapy in ASD children. However, replication in prospective samples with greater ethnic diversity and sample sizes is necessary.

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20. Tsamitrou S, Plumet MH. The importance and challenges of observing social interactions in autistic preschoolers during inclusive educational settings: A scoping review. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241227077.

BACKGROUND AND AIMS: A growing number of autistic children have access to inclusive education programs as early as kindergarten. However, little is known about how they actually participate in social interactions and develop their communicative skills according to the parameters of this environment. The aim of this article is to review observational studies on this topic and critically analyze their methodological choices by arguing on the aspects of communication skills noted in the observation grids. Disparities in the information collected depending on the method used have implications for understanding and supporting autistic children in an inclusive school environment. METHODS: Observational studies on social interactions of autistic preschoolers within inclusive preschool settings were scoped. The studies were analyzed according to the following parameters: aims of observation, method used for coding, communication partners considered (adults and peers), type of children’s social engagement (initiatives and responses), diversity of communicative forms and communication functions, distinction and comparison of interactional contexts related to the activities, and whether changes linked to developmental variables are studied on an interindividual or longitudinal basis. RESULTS: Seventeen studies using the observation method in inclusive preschool settings were identified. Recordingmethods are mostly based on video recording. The coding grids mainly focus on autistic children while partners’ behaviors (adults, peers) are often coded in less detail, thus providing littleinformation on their dynamic role in the interactions. Overall, autistic children were found to initiate interactions much less often than they respond to it. The data generally distinguish thecommunicative forms used by children and indicate a predominance of nonverbal means at preschool level. However, a few studies coded communicative functions, whether they areaddressed to children or produced by them. In addition, very few studies compare interactions across activity contexts. In addition, very few studies compare interactions across activity contexts.Results of some studies showed that children initiated interaction more frequently during free play than during work activity, but results are heterogeneous. Developmental trajectories in socialskills seem to be associated with the severity of autism and language skills, but longitudinal designs are still rare. CONCLUSIONS AND IMPLICATIONS: Direct and fine-grained observation in the classroom is a key source of information about how communication takes place in preschool-inclusive settings. The data, despite some methodological challenges, offer opportunities for better adjustment based on professional objectives. Our review highlights the importance of offering occasions for initiatives to autistic children and training of neurotypical peers to better interact with autistic children and promote verbal communication. Further observational studies are needed to use more microanalytic measures of the functional quality of social interactions in autistic children, including joint comparisons between partners (adults vs. peers) and across contexts (e.g., play vs. structured development) so that appropriate strategies can be proposed in inclusive preschool settings.

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21. White SW, Abbott L, Wieckowski AT, Capriola-Hall NN, Aly S, Youssef A. Corrigendum to « Feasibility of Automated Training for Facial Emotion Expression and Recognition in Autism » [Behav. Therapy 49(6) (2018) 881-888]. Behav Ther;2024 (Mar);55(2):429.

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22. Zhan L, Gao Y, Huang L, Zhang H, Huang G, Wang Y, Sun J, Xie Z, Li M, Jia X, Cheng L, Yu Y. Brain functional connectivity alterations of Wernicke’s area in individuals with autism spectrum conditions in multi-frequency bands: A mega-analysis. Heliyon;2024 (Feb 29);10(4):e26198.

Characterized by severe deficits in communication, most individuals with autism spectrum conditions (ASC) experience significant language dysfunctions, thereby impacting their overall quality of life. Wernicke’s area, a classical and traditional brain region associated with language processing, plays a substantial role in the manifestation of language impairments. The current study carried out a mega-analysis to attain a comprehensive understanding of the neural mechanisms underpinning ASC, particularly in the context of language processing. The study employed the Autism Brain Image Data Exchange (ABIDE) dataset, which encompasses data from 443 typically developing (TD) individuals and 362 individuals with ASC. The objective was to detect abnormal functional connectivity (FC) between Wernicke’s area and other language-related functional regions, and identify frequency-specific altered FC using Wernicke’s area as the seed region in ASC. The findings revealed that increased FC in individuals with ASC has frequency-specific characteristics. Further, in the conventional frequency band (0.01-0.08 Hz), individuals with ASC exhibited increased FC between Wernicke’s area and the right thalamus compared with TD individuals. In the slow-5 frequency band (0.01-0.027 Hz), increased FC values were observed in the left cerebellum Crus II and the right lenticular nucleus, pallidum. These results provide novel insights into the potential neural mechanisms underlying communication deficits in ASC from the perspective of language impairments.

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