1. Coughlan M, Lynch H. « Can I Play Too? » A Qualitative Study of Outdoor Play and Participation Among Autistic Preschoolers. Am J Occup Ther;2024 (Jul 1);78(4)

IMPORTANCE: Outdoor play in homes, schools, and communities provides children with unique opportunities to explore their worlds, develop fundamental life skills, and experience belonging. However, few studies have explored outdoor free play among autistic preschoolers in natural settings from a neurodivergent-informed perspective. OBJECTIVE: To explore the play preferences, opportunities, and challenges in outdoor play for autistic preschoolers. DESIGN: In this qualitative study, the authors used a multimethod approach to data collection using visual, verbal, and projective techniques and thematic analysis to identify and describe outdoor play occupation as expressed by autistic preschoolers. SETTING: Home, community, and preschool environments in a city in Ireland. PARTICIPANTS: Seven autistic children and their parents, from seven diverse preschool settings in Ireland. RESULTS: Two overarching themes were identified: (1) outdoor play preferences and meaning and (2) the physical and social environments of outdoor play. The findings suggest that autistic preschoolers demonstrate distinctive play styles and preferences when playing freely outdoors, with physical and social barriers to outdoor play existing in community and educational contexts. CONCLUSIONS AND RELEVANCE: The findings suggest that autistic preschoolers’ outdoor play styles and preferences require support from adult advocates. Although the importance of relationships and social play cannot be overlooked, infrastructural accommodations for parents and schools are required if we are to create supportive and inclusive outdoor play environments and opportunities for freedom of expression for autistic children. Plain-Language Summary: This study explored the distinctive outdoor play preferences, opportunities, and challenges for autistic preschoolers. The findings show that autistic preschoolers face physical and social barriers to outdoor play and that they need parents, schools, and communities to create supportive and inclusive play environments and opportunities for freedom of expression.

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2. Coelho-Medeiros ME, González MF, Vacarezza R, Leal VL, Bihan MJ, Rojas OV. [Equity with the migrant child in early screening for autism]. Andes Pediatr;2024 (Apr);95(2):213-214.

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3. Faustmann LL, Altgassen M. Practice is the best of all instructors-Effects of enactment encoding and episodic future thinking on prospective memory performance in high-functioning adults with autism spectrum disorder. Autism Res;2024 (May 27)

Prospective memory (PM) is the ability to remember to carry out intended actions in the future. The present study investigated the effects of episodic future thinking (EFT) and enactment encoding (EE) on PM performance in autistic adults (ASD). A total of 72 autistic individuals and 70 controls matched for age, gender, and cognitive abilities completed a computerized version of the Dresden breakfast Task, which required participants to prepare breakfast following a set of rules and time restrictions. A two (group: ASD vs. controls) by three (encoding condition: EFT vs. EE vs. standard) between-subjects design was applied. Participants were either instructed to engage in EFT or EE to prepare to the different tasks prior to performing the Dresden breakfast or received standard instructions. Analyses of variance were conducted. Autism-spectrum-disorders (ASD) participants did not differ from control participants in their PM performance, regardless of which strategy they used. Compared to the standard condition, EE but not EFT improved time-based PM performance in all participants. This is the first study to find spared time-based PM performance in autistic individuals. The results confirm earlier results of beneficial effects of EE on PM performance. Findings are discussed with regards to the methodology used, sample composition as well as autistic characteristics.

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4. Yu L, Liu Y, Xia J, Feng S, Chen F. KCNH5 deletion increases autism susceptibility by regulating neuronal growth through Akt/mTOR signaling pathway. Behav Brain Res;2024 (May 24):115069.

Recent clinical studies have highlighted mutations in the voltage-gated potassium channel Kv10.2 encoded by the KCNH5 gene among individuals with autism spectrum disorder (ASD). Our preliminary study found that Kv10.2 was decreased in the hippocampus of valproic acid (VPA) – induced ASD rats. Nevertheless, it is currently unclear how KCNH5 regulates autism-like features, or becomes a new target for autism treatment. We employed KCNH5 knockout (KCNH5(-/-)) rats and VPA – induced ASD rats in this study. Then, we used behavioral assessments, combined with electrophysiological recordings and hippocampal brain slice, to elucidate the impact of KCNH5 deletion and environmental factors on neural development and function in rats. We found that KCNH5(-/-) rats showed early developmental delay, neuronal overdevelopment, and abnormal electroencephalogram (EEG) signals, but did not exhibit autism-like behavior. KCNH5(-/-) rats exposed to VPA (KCNH5(-/-)-VPA) exhibit even more severe autism-like behaviors and abnormal neuronal development. The absence of KCNH5 excessively enhances the activity of the Protein Kinase B (Akt)/Mechanistic Target of Rapamycin (mTOR) signaling pathway in the hippocampus of rats after exposure to VPA. Overall, our findings underscore the deficiency of KCNH5 increases the susceptibility to autism under environmental exposures, suggesting its potential utility as a target for screening and diagnosis in ASD.

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5. Sharifi O, Haghani V, Neier KE, Fraga KJ, Korf I, Hakam SM, Quon G, Johansen N, Yasui DH, LaSalle JM. Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease progression. bioRxiv;2024 (May 19)

Dominant X-linked diseases are uncommon due to female X chromosome inactivation (XCI). While random XCI usually protects females against X-linked mutations, Rett syndrome (RTT) is a female neurodevelopmental disorder caused by heterozygous MECP2 mutation. After 6-18 months of typical neurodevelopment, RTT girls undergo poorly understood regression. We performed longitudinal snRNA-seq on cerebral cortex in a construct-relevant Mecp2e1 mutant mouse model of RTT, revealing transcriptional effects of cell type, mosaicism, and sex on progressive disease phenotypes. Across cell types, we observed sex differences in the number of differentially expressed genes (DEGs) with 6x more DEGs in mutant females than males. Unlike males, female DEGs emerged prior to symptoms, were enriched for homeostatic gene pathways in distinct cell types over time, and correlated with disease phenotypes and human RTT cortical cell transcriptomes. Non-cell-autonomous effects were prominent and dynamic across disease progression of Mecp2e1 mutant females, indicating wild-type-expressing cells normalizing transcriptional homeostasis. These results improve understanding of RTT progression and treatment.

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6. Chen A, Wang M, Dong B. No effect of autistic traits on social attention: evidence based on single-cue and conflicting-cues scenarios. BMC Psychol;2024 (May 27);12(1):295.

Individuals often use others’ gaze and head directions to direct their attention. To investigate the influence of autistic traits on social attention, we conducted two experiments comparing groups with high and low autistic traits in single-cue (Experiment 1) and conflicting-cue (Experiment 2) scenarios. Our findings indicate that individuals responded more rapidly to the direction of a single social cue or the consensus of multiple cues. However, we did not observe significant differences in social attention between individuals with high and low autistic traits. Notably, as the stimulus onset asynchrony (SOA) increased, individuals with low autistic traits exhibited greater improvements in reaction speed compared to those with high autistic traits. This suggests that individuals with low autistic traits excel at leveraging temporal information to optimize their behavioral readiness over time, hinting at potential variations in cognitive flexibility related to autistic traits.

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7. Okoroafor F, Beattie H, Qiang Z, Yianni J. Fragile X-associated tremor/ataxia syndrome treated with multitarget deep brain stimulation. BMJ Case Rep;2024 (May 27);17(5)

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive hereditary neurodegenerative disorder which causes intention tremor and cerebellar ataxia. It typically affects the ageing population. Deep brain stimulation (DBS) is widely accepted in the treatment of common movement disorders and has been trialled in treating rare and complex neurodegenerative disorders. We report a case of a man in his 40s with a long history of tremor affecting his hands. MRI brain revealed high T2 signal in the middle cerebellar peduncles. Genetic testing revealed FMR1 premutation confirming the diagnosis of FXTAS. Subsequently, he was treated with multitarget DBS of the ventralis intermediate nucleus and ventralis oralis posterior nuclei bilaterally, with excellent neurological function at 9 years follow-up. This case suggests multitarget DBS for FXTAS with neurophysiology-guided DBS programming can provide excellent long-term tremor suppression in selected patients.

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8. Pirinen V, Loukusa S, Eggers K, Sivonen J, Mäkinen L, Mämmelä L, Ebeling H, Mattila ML, Hurtig T. Could linguistic and cognitive factors, degree of autistic traits and sex predict speech disfluencies in autistic young adults and controls?. Clin Linguist Phon;2024 (May 27):1-18.

This study aimed to evaluate the effect of linguistic complexity and individual background variables (i.e. linguistic and cognitive abilities, degree of autistic traits, and sex) on speech disfluencies in autistic young adults and controls. Thirty-two 19- to 33-year-old autistic adults and 35 controls participated in this study. The frequency of disfluencies and stuttering severity were evaluated based on a narrative speech task. Linguistic complexity was assessed by evaluating the syntactic structures of the narratives. Cognitive and linguistic abilities were assessed using the General Ability Index (GAI), Verbal Comprehension Index (VCI) and Perceptual Reasoning Index (PRI) from the Wechsler Adult Intelligence Scale IV. Autistic traits were measured using the Autism Spectrum Quotient (AQ). Multiple-linear regression analyses (syntactic complexity, GAI, AQ, sex, and group status as predictors) showed that (a) syntactic complexity predicted total and stuttering-like disfluencies and stuttering severity, (b) GAI predicted typical disfluencies, and (c) sex predicted total, typical, and stuttering-like disfluencies. Additional correlation analyses revealed negative association between PRI and disfluencies in the control group but not in the autistic group. No connection was found between AQ and disfluencies. It seems that while some connections between disfluencies and individual cognitive features were found, some of the possible contributing factors for greater speech disfluency might differ between autistic and typical speakers.

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9. Noguchi J, Watanabe S, Oga T, Isoda R, Nakagaki K, Sakai K, Sumida K, Hoshino K, Saito K, Miyawaki I, Sugano E, Tomita H, Mizukami H, Watakabe A, Yamamori T, Ichinohe N. Altered projection-specific synaptic remodeling and its modification by oxytocin in an idiopathic autism marmoset model. Commun Biol;2024 (May 27);7(1):642.

Alterations in the experience-dependent and autonomous elaboration of neural circuits are assumed to underlie autism spectrum disorder (ASD), though it is unclear what synaptic traits are responsible. Here, utilizing a valproic acid-induced ASD marmoset model, which shares common molecular features with idiopathic ASD, we investigate changes in the structural dynamics of tuft dendrites of upper-layer pyramidal neurons and adjacent axons in the dorsomedial prefrontal cortex through two-photon microscopy. In model marmosets, dendritic spine turnover is upregulated, and spines are generated in clusters and survived more often than in control marmosets. Presynaptic boutons in local axons, but not in commissural long-range axons, demonstrate hyperdynamic turnover in model marmosets, suggesting alterations in projection-specific plasticity. Intriguingly, nasal oxytocin administration attenuates clustered spine emergence in model marmosets. Enhanced clustered spine generation, possibly unique to certain presynaptic partners, may be associated with ASD and be a potential therapeutic target.

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10. Mukerji CE, Wilson JS, 3rd, Wilkinson CL, Krol MA, Nelson CA, Tager-Flusberg H. Correction: Resting Frontal Gamma Power is Associated with Both Expressive Language and Non-verbal Cognitive Abilities in Young Autistic Children. J Autism Dev Disord;2024 (May 27)

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11. Parrillas-Manchón S, Castroviejo E, Hernández-Conde JV, Rodríguez-Armendariz E, Vicente A. Testing the Labeling Effect in Autistic Children. J Autism Dev Disord;2024 (May 27)

PURPOSE: Our objective was to test the labeling effect in autistic children. The effect has been robustly tested in typically developing (TD) individuals. TD children expect that any two objects that receive the same linguistic label will have similar properties, which suggests that they generate concepts based on acts of labeling. The labeling effect has not been tested on autistic children, who may not be equally attuned to the relevance of linguistic clues or may not generalize as swiftly as TD children. METHODS: We reproduced Graham et al.,’s (Frontiers in Psychology 10.3389/fpsyg.2012.00586, 2013) design on 30 autistic children of different ages. Participants were divided into two groups depending on whether objects presented to them were named alike or differently (Same or Distinct Label between-individuals condition). The dependent variable was the number of target actions the child performed on an object, depending on whether that object made the same sound as a previously shown test object. RESULTS: We did not reproduce results similar to those reported in Graham et al., (Frontiers in Psychology 10.3389/fpsyg.2012.00586, 2013). Children in the Same Label group did not perform significantly more actions than children in the Distinct Label group when the objects that were handed to the children did not make the same sound as the test object. CONCLUSIONS: Autistic children do not seem to be sensitive to the labeling effect to the same extent as TD children. If these results are confirmed, intervention programs for autistic children should consider trainings on this way of generating concepts shared by their linguistic community.

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12. Poole D, Grange JA, Milne E. Putting the Spotlight Back Onto the Flanker Task in Autism: Autistic Adults Show Increased Interference from Foils Compared with Non-autistic Adults. J Cogn;2024;7(1):46.

Autistic people may have a less focused spotlight of spatial selective attention than non-autistic people, meaning that distracting stimuli are less effectively suppressed. Previous studies using the flanker task have supported this suggestion with observations of increased congruency effects in autistic participants. However, findings across studies have been mixed, mainly based on research in children and on response time measures, which may be influenced by differences in response strategy between autistic and non-autistic people rather than differences in selective attention. In this pre-registered study, 153 autistic and 147 non-autistic adults completed an online flanker task. The aims of this study were to test whether increased congruency effects replicate in autistic adults and to extend previous work by fitting a computational model of spatial selective attention on the flanker task to the data. Congruency effects were increased in the autistic group. The modelling revealed that the interference time from the foils was increased in the autistic group. This suggests that the activation of the foils was increased, meaning suppression was less effective for autistic participants. There were also differences in non-interference parameters between the groups. The estimate of response caution was increased in the autistic group and the estimate of perceptual efficiency was decreased. Together these findings suggest inefficient suppression, response strategy and perceptual processing all contribute to differences in performance on the flanker task between autistic and non-autistic people.

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13. Tollit MA, Maloof T, Hoq M, Haebich K, Pace CC, Rodriguez ZM, Sial M, Payne JM, Pang K. A comparison of gender diversity in transgender young people with and without autistic traits from the Trans 20 cohort study. Lancet Reg Health West Pac;2024 (Jun);47:101084.

BACKGROUND: There is an elevated co-occurrence of autism in trans individuals, with recent meta-analyses suggesting that 11% of trans individuals are autistic. The presence of autism in trans young people can create clinical challenges by adding complexity to the presentation, assessment and management of those presenting to gender clinics. Although many trans young people display traits of autism, how these traits relate to the nature of their gender diversity is unclear. METHODS: This study compared gender identity, gender expression and gender dysphoria (GD) in trans young people with and without autistic traits. Baseline data from a cohort study of trans children and adolescents who first attended the Royal Children’s Hospital Gender Service (Victoria, Australia) between February 2017 and January 2020 were analysed cross-sectionally. Autistic traits were assessed via the Social Responsiveness Scale-2. Gender was assessed using tools that measure gender identity, social transition, GD, body dissatisfaction, voice dysphoria, and chest dysphoria. FINDINGS: 522 participants were included, of whom 239 (45.8%) exhibited autistic traits (SRS total T-score ≥60). Those with and without autistic traits were similar in their age (mean (SD) age 14.0 (2.9) and 13.1 (3.6) years respectively) and gender identity: the majority (73.7% (n = 174) and 70.5% (n = 198) respectively) identified in a binary way. Higher rates of social transition (specifically, changing pronouns) were noted in those with autistic traits (Difference in proportion 11.7, 95% confidence interval [CI] 2.4-21.1, p = 0.014). GD was high in both groups with ∼95% displaying clinically relevant levels of GD. Chest dysphoria was similar between groups, while voice dysphoria was higher in those with autistic traits (standardised mean difference [SMD] = 0.3, 95% confidence interval [CI]: 0.1-0.5 p = 0.00087). Dissatisfaction with secondary gendered characteristics (SMD = 0.3, CI: 0.1-0.5 p = 0.0011) and hormonally unresponsive body characteristics (SMD = 0.2, CI: 0.1-0.4 p = 0.016) was higher in trans young people with autistic traits. INTERPRETATION: The similarly high severity of GD in those with and without autistic traits reinforces the importance of trans young people with and without autistic traits being availed the same opportunities to access gender-affirming care. Subtle differences identified between the groups in other areas of gender diversity suggest trans young people with autistic traits may have distinct needs and that gender-affirming care may need to be tailored accordingly. FUNDING: The Royal Children’s Hospital Foundation, Hugh D.T. Williamson Foundation; Australian National Health and Medical Research Council-Clinical Trials and Cohort Studies scheme (GNT 2006529).

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