1. Charnock T, Drummond A, Hall LC, Sauer JD. The associations between autistic characteristics and microtransaction spending. Sci Rep;2024 (Jun 18);14(1):14068.

Microtransactions provide optional, virtual, video game goods that, for an additional cost to the player, provide additional game content and alter the gameplay experience. Loot boxes-a specific form of microtransaction-offer randomised rewards in exchange for payment, and are argued to be structurally and psychologically similar to gambling. Nascent research suggests that a link exists between autism and both problematic gaming and problematic gambling. Here, we investigated the relationships between autistic characteristics and experiences, and excessive video gaming and microtransaction expenditure. A sample of 1178 adults from Australia, Aotearoa, and The United States were recruited from Prolific Academic, and completed a survey measuring in-game expenditure, autistic characteristics and experiences, problematic gaming, problematic gambling, and risky loot box use. Analyses showed positive associations between autistic characteristics and experiences with problematic gaming and problem gambling symptomatology. However, results also showed a small, negative association between autistic characteristics and experiences and spending on loot boxes when problem gambling symptoms, problematic gaming, and risky loot box use were statistically controlled for. These results suggest that autistic gamers may be vulnerable to problematic gaming and gambling, but that this effect does not extend to the purchasing of microtransactions.

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2. Cortés BI, Meza RC, Ancatén-González C, Ardiles NM, Aránguiz MI, Tomita H, Kaplan DR, Cornejo F, Nunez-Parra A, Moya PR, Chávez AE, Cancino GI. Loss of protein tyrosine phosphatase receptor delta PTPRD increases the number of cortical neurons, impairs synaptic function and induces autistic-like behaviors in adult mice. Biol Res;2024 (Jun 18);57(1):40.

BACKGROUND: The brain cortex is responsible for many higher-level cognitive functions. Disruptions during cortical development have long-lasting consequences on brain function and are associated with the etiology of brain disorders. We previously found that the protein tyrosine phosphatase receptor delta Ptprd, which is genetically associated with several human neurodevelopmental disorders, is essential to cortical brain development. Loss of Ptprd expression induced an aberrant increase of excitatory neurons in embryonic and neonatal mice by hyper-activating the pro-neurogenic receptors TrkB and PDGFRβ in neural precursor cells. However, whether these alterations have long-lasting consequences in adulthood remains unknown. RESULTS: Here, we found that in Ptprd+/- or Ptprd-/- mice, the developmental increase of excitatory neurons persists through adulthood, affecting excitatory synaptic function in the medial prefrontal cortex. Likewise, heterozygosity or homozygosity for Ptprd also induced an increase of inhibitory cortical GABAergic neurons and impaired inhibitory synaptic transmission. Lastly, Ptprd+/- or Ptprd-/- mice displayed autistic-like behaviors and no learning and memory impairments or anxiety. CONCLUSIONS: These results indicate that loss of Ptprd has long-lasting effects on cortical neuron number and synaptic function that may aberrantly impact ASD-like behaviors.

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3. Del Bianco T, Lai MC, Mason L, Johnson MH, Charman T, Loth E, Banaschewski T, Buitelaar J, Murphy DGM, Jones EJH. Sex differences in social brain neural responses in autism: temporal profiles of configural face-processing within data-driven time windows. Sci Rep;2024 (Jun 18);14(1):14038.

Face-processing timing differences may underlie visual social attention differences between autistic and non-autistic people, and males and females. This study investigates the timing of the effects of neurotype and sex on face-processing, and their dependence on age. We analysed EEG data during upright and inverted photographs of faces from 492 participants from the Longitudinal European Autism Project (141 neurotypical males, 76 neurotypical females, 202 autistic males, 73 autistic females; age 6-30 years). We detected timings of sex/diagnosis effects on event-related potential amplitudes at the posterior-temporal channel P8 with Bootstrapped Cluster-based Permutation Analysis and conducted Growth Curve Analysis (GCA) to investigate the timecourse and dependence on age of neural signals. The periods of influence of neurotype and sex overlapped but differed in onset (respectively, 260 and 310 ms post-stimulus), with sex effects lasting longer. GCA revealed a smaller and later amplitude peak in autistic female children compared to non-autistic female children; this difference decreased in adolescence and was not significant in adulthood. No age-dependent neurotype difference was significant in males. These findings indicate that sex and neurotype influence longer latency face processing and implicates cognitive rather than perceptual processing. Sex may have more overarching effects than neurotype on configural face processing.

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4. Hollingdale J, Woodhouse E, Tibber MS, Simonoff E, Hollocks MJ, Charman T. The cumulative impact of attention deficit hyperactivity disorder, autism and intellectual disability for young people. J Intellect Disabil Res;2024 (Jun 17)

BACKGROUND: Neurodevelopmental conditions frequently co-occur. The aim of this paper was to determine whether there is a cumulative association between (1) the number of neurodevelopmental conditions, specifically hyperkinetic disorder (hereafter referred to as attention deficit hyperactivity disorder), autism spectrum disorder (hereafter referred to as autism) and intellectual disability, and (2) behavioural and socio-emotional problems and the level of clinician-rated functioning for young males and females. METHODS: In this cross-sectional study, diagnostic information, caregiver-rated behavioural and socio-emotional data (as conceptualised by the Strengths and Difficulties Questionnaire) and clinician-rated functioning scores (as conceptualised by the Children’s Global Assessment Scale) were extracted from electronic patient records for 2768 young people aged 3-17 years (mean = 11.55, SD = 3.46). All data were extracted at baseline, that is, at the time the young person was diagnosed with attention deficit hyperactivity disorder, autism and/or an intellectual disability. Ordinal regression analyses tested associations between the number of neurodevelopmental conditions met (i.e. 1, 2 or 3) and behavioural and socio-emotional outcomes and functioning. RESULTS: After controlling for age and biological sex, the number of neurodevelopmental conditions was associated with higher levels of inattention/hyperactivity and peer problems, lower levels of prosocial behaviour and poorer clinician-rated functioning. Although these findings were consistent for males, a cumulative association was not identified for females, except for clinician-rated functioning. CONCLUSIONS: For young people, the presence of multiple neurodevelopmental conditions may have a cumulative impact across domains, but this may differ between males and females.

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5. Lu X, Ni P, Suarez-Meade P, Ma Y, Forrest EN, Wang G, Wang Y, Quiñones-Hinojosa A, Gerstein M, Jiang YH. Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell Rep;2024 (Jun 18);43(7):114376.

Precision of transcription is critical because transcriptional dysregulation is disease causing. Traditional methods of transcriptional profiling are inadequate to elucidate the full spectrum of the transcriptome, particularly for longer and less abundant mRNAs. SHANK3 is one of the most common autism causative genes. Twenty-four Shank3-mutant animal lines have been developed for autism modeling. However, their preclinical validity has been questioned due to incomplete Shank3 transcript structure. We apply an integrative approach combining cDNA-capture and long-read sequencing to profile the SHANK3 transcriptome in humans and mice. We unexpectedly discover an extremely complex SHANK3 transcriptome. Specific SHANK3 transcripts are altered in Shank3-mutant mice and postmortem brain tissues from individuals with autism spectrum disorder. The enhanced SHANK3 transcriptome significantly improves the detection rate for potential deleterious variants from genomics studies of neuropsychiatric disorders. Our findings suggest that both deterministic and stochastic transcription of the genome is associated with SHANK family genes.

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6. Miyakawa J, Yamada Y, Hakozaki Y, Makino K, Kamei J, Taguchi S, Kawai T, Akiyama Y, Yamada D, Kume H. Comparison of PDD-TURBT alone versus white light TURBT plus intravesical BCG therapy: a propensity-score matching study. Photodiagnosis Photodyn Ther;2024 (Jun 18):104254.

BACKGROUND: Although photodynamic-diagnosed transurethral resection of bladder cancer (PDD-TURBT) and Bacillus Calmette-Guérin (BCG) intravesical instillation are the two representative therapies for non-muscle invasive bladder cancer (NMIBC), no studies directly compare their efficacy. We evaluated the outcome of PDD-TURBT alone compared with white light TURBT with intravesical BCG therapy andanalyzed theefficacy of both therapies depending on the characteristics of the tumors. METHODS: We retrospectively analyzed intermediate- and high-risk NMIBC patients treated with PDD-TURBT alone (the PDD group) or white light TURBT with BCG therapy (the white light group) using propensity score matched analysis. RESULTS: In the propensity score matched cohort, the 1-, 2-, and 3-year recurrence-free survival rates for the PDD group were 77.6%, 64.1%, and 48.1%, respectively, compared to 84.6%, 75.1%, and 75.1% for the white light group (p = 0.44, 0.27, 0.17, respectively). The difference in recurrence rates between the two groups tended to become more pronounced over time, although there was no significant difference. In the univariate and multivariate analysis, recurrence, multiplicity, and tumor grade were the significant prognostic factors of recurrence in the PDD group (p = 0.010, 0.047, 0.048, respectively). Long-term RFS was similar in the PDD and white light groups when the population was limited to the primary and single tumors, suggesting that PDD-TURBT alone may be sufficient in this spectrum of patients. CONCLUSIONS: PDD-TURBT alone is insufficient to control the long-term recurrence of bladder cancer but can be effective in selected cases such as primary and single tumors.

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7. Norton B, Sheen J, Burns L, Enticott PG, Fuller-Tyszkiewicz M, Kirkovski M. Overlap of eating disorders and neurodivergence: the role of inhibitory control. BMC Psychiatry;2024 (Jun 18);24(1):454.

BACKGROUND: Difficulties with inhibitory control have been identified in eating disorders (EDs) and neurodevelopmental disorders (NDs; including attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder), and there appear to be parallels between the expression of these impairments. It is theorised that impairments in inhibitory control within NDs may represent a unique vulnerability for eating disorders (EDs), and this same mechanism may contribute to poorer treatment outcomes. This review seeks to determine the state of the literature concerning the role of inhibitory control in the overlap of EDs and neurodivergence. METHOD: A scoping review was conducted to summarise extant research, and to identify gaps in the existing knowledge base. Scopus, Medline, PsycInfo, Embase, and ProQuest were systematically searched. Studies were included if the study measured traits of ADHD or autism, and symptoms of ED, and required participants to complete a performance task measure of inhibitory control. Where studies included a cohort with both an ND and ED, these results had to be reported separately from cohorts with a singular diagnosis. Studies were required to be published in English, within the last 10 years. RESULTS: No studies explored the relationship between autism and EDs using behavioural measures of inhibitory control. Four studies exploring the relationship between ADHD and EDs using behavioural measures of inhibitory control met selection criteria. These studies showed a multifaceted relationship between these conditions, with differences emerging between domains of inhibitory control. ADHD symptoms predicted poorer performance on measures of response inhibition in a non-clinical sample; this was not replicated in clinical samples, nor was there a significant association with EDs. Both ADHD and ED symptoms are associated with poor performance on attentional control measures; where these diagnoses were combined, performance was worse than for those with a singular diagnosis of ADHD. This was not replicated when compared to those with only ED diagnoses. CONCLUSION: Impairments in attentional control may represent a unique vulnerability for the development of an ED and contribute to poor treatment outcomes. Further research is needed to explore the role of inhibitory control in EDs, ADHD and autism, including the use of both self-report and behavioural measures to capture the domains of inhibitory control.

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8. Parr J, Wigham S, Farr W, Male I, Isard L, Lees R, Reddy V, Saunders G, Grahame V. A national research survey of childhood autism assessment services in the UK: empirical evidence of diagnostic practice, challenges and improvement opportunities. BMJ Paediatr Open;2024 (Jun 18);8(1)

BACKGROUND: The UK National Health Service (NHS) Long Term Plan aims to reduce waiting times for childhood autism diagnostic assessment and improve parent and child satisfaction. This empirical research investigated current childhood diagnostic practice provision, and changes made by teams to address challenges faced. METHODS: Data were collected using an online semi-structured research questionnaire. UK childhood autism diagnostic assessment services (for children aged 1-18 years) were invited to participate through multidisciplinary clinical networks, special interest groups and professionals mailing lists. The study was on the National Institute for Health Research Clinical Research Network portfolio. RESULTS: 128 clinicians from diverse NHS services responded including: 10 (8%) integrated services, 46 (36%) Child and Adolescent Mental Health Services (CAMHS) and 72 (56%) paediatric services. A minority of services (23, 17.9%) reported always meeting the National Institute for Health and Care Excellence guidance for assessment. Referrals rose 115% between 2015 and 2019. Clinicians described increased child and family complexity compared with previously; children had more co-occurring physical, mental health and neurodevelopmental conditions and there were more frequent family health problems and safeguarding concerns. Most services (97, 75.8%) reported recent funding stayed constant/decreased. Incomplete multidisciplinary teams (MDTs) were frequently reported; a minority of services reported increased availability of professionals, and some experienced reductions in key professionals. Many teams were unable to undertake assessments or make recommendations for associated neurodevelopmental and co-existing conditions. Teams described improvement strategies implemented (eg, adapting professionals’ roles, supporting parents). CONCLUSIONS: Most UK autism paediatric and CAMHS diagnostic teams experience significant challenges affecting the assessment of children with possible autism, and recommendations regarding treatment/intervention. Where CAMHS or paediatric services work in isolation, there are often competency gaps in MDTs and ability to deliver full neurodevelopmental and mental health assessments. Teams identified service improvement strategies; however, investment in MDT expertise is required to enable services to implement changes to meet the needs of children and families.

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9. Reeves KD, Figuereo YF, Weis VG, Hsu FC, Engevik MA, Krigsman A, Walker SJ. Mapping the Geographical Distribution of the Mucosa-Associated Gut Microbiome in GI-Symptomatic Children with Autism Spectrum Disorder. Am J Physiol Gastrointest Liver Physiol;2024 (Jun 18)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by cognitive, behavioral, and communication impairments. In the last few years, it has been proposed that alterations in the gut microbiota may contribute to an aberrant communication between the gut and brain in children with ASD. Consistent with this notion, several studies have demonstrated that children with ASD have an altered fecal microbiota compared to typically developing (TD) children. However, it is unclear where along the length of the gastrointestinal (GI) tract these alterations in microbial communities occur. Additionally, the variation between specific mucosa-associated communities remains unknown. To address this gap in knowledge of the microbiome associated with ASD, biopsies from the antrum, duodenum, ileum, ascending colon, and rectum of children with ASD and age- and sex-matched TD children were examined by 16s rRNA sequencing. We observed an overall elevated abundance of Bacillota and Bacteroidota and decreased abundance of Pseudomonadota in all GI tract regions of both male and female ASD children compared to TD children. Further analysis at the genera level revealed unique differences in the microbiome in the different regions of the GI tract in ASD children compared to TD children. We also observed sex-specific differences in the gut microbiota composition in children with ASD. These data indicate that the microbiota of ASD children is altered at multiple regions of the GI tract and that different anatomic locations have unique alterations in mucosa-associated bacterial genera.

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10. Takeda T, Osada H, Tsuji Y, Kurita H. Validation and determining an optimal cut-off score of the Infant Behavior Checklist for autism spectrum disorder. PCN Rep;2024 (Jun);3(2):e212.

AIM: Given the escalating prevalence of autism spectrum disorder (ASD), the persistent paucity of child psychiatrists in Japan, and the need to prepare for unforeseen situations, such as the COVID-19 pandemic, it is essential to establish a reliable screening tool. This study aims to validate the Infant Behavior Checklist (IBC) developed by Japanese experts and determine its appropriate cut-off score. METHODS: A total of 354 clinic-referred children, along with their caregivers, participated in this research. Clinical records, including diagnoses established through the sub-structured diagnostic interviews, and the IBC assessments, were subjected to rigorous statistical analysis. RESULTS: Among the 24 items, six failed to reach significance to differentiate ASD from non-ASD cases. The Cronbach’s alpha coefficient for the IBC was calculated at 0.77. The IBC total score for ASD cases was significantly higher than that of non-ASD cases. With the chosen cut-off score, the IBC demonstrated an area under the ROC curve of 0.803, along with sensitivity, specificity, positive predictive value, and negative predictive value of 8.03, 0.79, 0.69, 0.34, and 0.94, respectively. CONCLUSION: The IBC exhibits satisfactory internal consistency and content and discriminant validity. The high sensitivity and other associated indices for the optimal cut-off score of the IBC affirm its validity as a screening instrument for ASD. Nevertheless, further investigations are warranted to ascertain the clinical utility of the IBC.

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11. Tsou YT, Nasri M, Li B, Blijd-Hoogewys EMA, Baratchi M, Koutamanis A, Rieffe C. Social connectedness and loneliness in school for autistic and allistic children. Autism;2024 (Jun 18):13623613241259932.

Many previous studies reported that autistic children have fewer social connections. Yet, recent studies also show that autistic children more often feel lonely in school than allistic (i.e. non-autistic) children. This outcome seems to go against the traditional view that autistic children do not desire to have social connections. Therefore, this study aimed to find out how autistic and allistic children feel about their social connections. We included 47 autistic and 52 neurodiverse-allistic children from two special education primary schools (aged 8-13 years). We tested their social connections and loneliness in school, through a new approach. This new approach includes questionnaires, and sensors for tracking social contacts on playgrounds during school breaks. We found that allistic children felt more loneliness when they spent little time in social contacts during school breaks. Yet, autistic children felt more loneliness when their peers did not like to play with them. For these autistic children, feelings of loneliness may go beyond face-to-face contacts. Being liked as part of a peer group was key. Understanding differences in children’s needs can lead to a more effective design for a welcoming school climate.

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12. Yang C, Xiao H, Zhu H, Du Y, Wang L. Revealing the gut microbiome mystery: A meta-analysis revealing differences between individuals with autism spectrum disorder and neurotypical children. Biosci Trends;2024 (Jun 18)

The brain-gut axis intricately links gut microbiota (GM) dysbiosis to the development or worsening of autism spectrum disorder (ASD). However, the precise GM composition in ASD and the effectiveness of probiotics are unclear. To address this, we performed a thorough meta-analysis of 28 studies spanning PubMed, PsycINFO, Web of Science, Scopus, and MEDLINE, involving 1,256 children with ASD and 1042 neurotypical children, up to February 2024. Using Revman 5.3, we analyzed the relative abundance of 8 phyla and 64 genera. While individuals with ASD did not exhibit significant differences in included phyla, they exhibited elevated levels of Parabacteroides, Anaerostipes, Faecalibacterium, Clostridium, Dorea, Phascolarctobacterium, Lachnoclostridium, Catenibacterium, and Collinsella along with reduced percentages of Barnesiella, Odoribacter, Paraprevotella, Blautia, Turicibacter, Lachnospira, Pseudomonas, Parasutterella, Haemophilus, and Bifidobacterium. Notably, discrepancies in Faecalibacterium, Clostridium, Dorea, Phascolarctobacterium, Catenibacterium, Odoribacter, and Bifidobacterium persisted even upon systematic exclusion of individual studies. Consequently, the GM of individuals with ASD demonstrates an imbalance, with potential increases or decreases in both beneficial and harmful bacteria. Therefore, personalized probiotic interventions tailored to ASD specifics are imperative, rather than a one-size-fits-all approach.

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13. Zheng L, Jiao Y, Zhong H, Tan Y, Yin Y, Liu Y, Liu D, Wu M, Wang G, Huang J, Wang P, Qin M, Wang M, Xiao Y, Lv T, Luo Y, Hu H, Hou ST, Kui L. Human-derived fecal microbiota transplantation alleviates social deficits of the BTBR mouse model of autism through a potential mechanism involving vitamin B(6) metabolism. mSystems;2024 (Jun 18);9(6):e0025724.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by social communication deficiencies and stereotypic behaviors influenced by hereditary and/or environmental risk factors. There are currently no approved medications for treating the core symptoms of ASD. Human fecal microbiota transplantation (FMT) has emerged as a potential intervention to improve autistic symptoms, but the underlying mechanisms are not fully understood. In this study, we evaluated the effects of human-derived FMT on behavioral and multi-omics profiles of the BTBR mice, an established model for ASD. FMT effectively alleviated the social deficits in the BTBR mice and normalized their distinct plasma metabolic profile, notably reducing the elevated long-chain acylcarnitines. Integrative analysis linked these phenotypic changes to specific Bacteroides species and vitamin B(6) metabolism. Indeed, vitamin B(6) supplementation improved the social behaviors in BTBR mice. Collectively, these findings shed new light on the interplay between FMT and vitamin B(6) metabolism and revealed a potential mechanism underlying the therapeutic role of FMT in ASD.IMPORTANCEAccumulating evidence supports the beneficial effects of human fecal microbiota transplantation (FMT) on symptoms associated with autism spectrum disorder (ASD). However, the precise mechanism by which FMT induces a shift in the microbiota and leads to symptom improvement remains incompletely understood. This study integrated data from colon-content metagenomics, colon-content metabolomics, and plasma metabolomics to investigate the effects of FMT treatment on the BTBR mouse model for ASD. The analysis linked the amelioration of social deficits following FMT treatment to the restoration of mitochondrial function and the modulation of vitamin B(6) metabolism. Bacterial species and compounds with beneficial roles in vitamin B(6) metabolism and mitochondrial function may further contribute to improving FMT products and designing novel therapies for ASD treatment.

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