1. Al Qadire M, Abdelrahman H. Behavioural interventions adapted for autistic adults with moderate-to-severe intellectual disabilities are feasible and acceptable for reducing anxiety. Evid Based Nurs;2024 (Oct 2)

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2. Amllal N, Lyahyai J, Elalaoui SC, El Kadiri Y, Sefiani A. Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report. Mol Syndromol;2024 (Oct);15(5):421-426.

INTRODUCTION: Pathogenic variants in the STXBP1 gene are associated to a large spectrum of severe early onset developmental and epileptic encephalopathies (OMIM #612164). They were also identified in various other neurodevelopmental disorders. This gene encodes for the syntaxin-binding protein 1, a member of the SEC-1 family of membrane-transport proteins that modulate the presynaptic vesicular fusion by interacting with soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). However, the physiopathology of STXBP1 pathogenic variants is not yet fully understood. CASE PRESENTATION: Herein, we report a patient presenting intellectual disability, early onset seizures, and autism. Clinical exome sequencing identified a novel monoallelic splice pathogenic variant STXBP1(NM_001032221.6):c.38-2A>G. DISCUSSION: Splice-site pathogenic variants in the STXBP1 gene are mostly associated with West syndrome, early onset epilepsy and encephalopathy, and Ohtahara syndrome. Our findings extend clinical and molecular spectrum of STXBP1 gene variants by reporting the first splice-site variant associated with autism along with early onset epilepsy and, and intellectual disability in a patient.

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3. Asta L, Ricciardello A, Cucinotta F, Turriziani L, Boncoddo M, Bellomo F, Angelini J, Gnazzo M, Scandolo G, Pisanò G, Pelagatti F, Chehbani F, Camia M, Persico AM. Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome. J Neurodev Disord;2024 (Oct 3);16(1):57.

BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD). OBJECTIVES: To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels. METHODS: 70 Italian PMS patients were clinically characterized by parental report, direct medical observation, and a thorough medical and psychodiagnostic protocol. Serotonin levels were measured in platelet-rich plasma by HPLC. RESULTS: Our sample includes 59 (84.3%) cases with chr. 22q13 terminal deletion, 5 (7.1%) disruptive SHANK3 mutations, and 6 (8.6%) ring chromosome 22. Intellectual disability was present in 69 (98.6%) cases, motor coordination disorder in 65 (92.9%), ASD in 20 (28.6%), and lifetime bipolar disorder in 12 (17.1%). Prenatal and postnatal complications were frequent (22.9%-48.6%). Expressive and receptive language were absent in 49 (70.0%) and 19 (27.1%) cases, respectively. Decreased pain sensitivity was reported in 56 (80.0%), hyperactivity in 49 (80.3%), abnormal sleep in 45 (64.3%), congenital dysmorphisms in 35 (58.3%), chronic stool abnormalities and especially constipation in 29 (41.4%). Parents reported noticing behavioral abnormalities during early childhood immediately after an infective episode in 34 (48.6%) patients. Brain MRI anomalies were observed in 53 (79.1%), EEG abnormalities in 16 (23.5%), kidney and upper urinary tract malformations in 18 (28.1%). Two novel phenotypes emerged: (a) a subgroup of 12/44 (27.3%) PMS patients displays smaller head size at enrollment (mean age 11.8 yrs) compared to their first year of neonatal life, documenting a deceleration of head growth (p < 0.001); (b) serotonin blood levels are significantly lower in 21 PMS patients compared to their 21 unaffected siblings (P < 0.05), and to 432 idiopathic ASD cases (p < 0.001). CONCLUSIONS: We replicate and extend the description of many phenotypic characteristics present in PMS, and report two novel features: (1) growth trajectories are variable and head growth appears to slow down during childhood in some PMS patients; (2) serotonin blood levels are decreased in PMS, and not increased as frequently occurs in ASD. Further investigations of these novel features are under way.

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4. Daniel S, Laurie M, Delafield-Butt JT. A handbook for Rhythmic Relating in autism: supporting social timing in play, learning and therapy. Front Psychol;2024;15:1384068.

We present a handbook for Rhythmic Relating, an approach developed to support play, learning and therapy with young autistic children, unconventional communicators, and autistic people who have additional learning needs. Rhythmic Relating is based on the Movement Sensing perspective, a growing body of research that recognizes that autistic social difficulties stem from more basic sensory and motor differences. These sensorimotor differences directly affect embodied experience and social timing in communication. The Rhythmic Relating approach acknowledges that autistic/non-autistic interactive mismatch goes both ways and offers bidirectional support for social timing and expressive action in play. This handbook is presented in an accessible fashion, allowing the reader to develop at their own pace through three skill-levels and encouraging time out to practice. We begin with the basics of building rapport (seeing, copying, and celebrating interactional behaviors), introduce the basic foundations of sensory stability, and then move on to developing reciprocal play (using mirroring, matching, looping, and « Yes…and » techniques), and further to understanding sensory impetus (using sensory contours, accents and flows) and its potential in support of social timing. Rhythmic Relating is offered in support of each practitioner’s creative practice and personal sense of fun and humor in play. The model is offered as a foundation for interaction and learning, as a base practice in schools, for Occupational Therapists, Speech Therapists and Physiotherapists, and can also provide a basis for tailoring creative arts therapies when working with autistic clients.

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5. Ethridge LE, Pedapati EV, Schmitt LM, Norris JE, Auger E, De Stefano LA, Sweeney JA, Erickson CA. Validating brain activity measures as reliable indicators of individual diagnostic group and genetically mediated sub-group membership Fragile X Syndrome. Sci Rep;2024 (Oct 3);14(1):22982.

Recent failures translating preclinical behavioral treatment effects to positive clinical trial results in humans with Fragile X Syndrome (FXS) support refocusing attention on biological pathways and associated measures, such as electroencephalography (EEG), with strong translational potential and small molecule target engagement. This study utilized guided machine learning to test promising translational EEG measures (resting power and auditory chirp oscillatory variables) in a large heterogeneous sample of individuals with FXS to identify best performing EEG variables for reliably separating individuals with FXS, and genetically-mediated subgroups within FXS, from typically developing controls. Best performing variables included resting relative frontal theta power, all combined posterior-head resting power bands, posterior peak alpha frequency (PAF), combined PAF across all measured regions, combined theta, alpha, and gamma power during the chirp, and all combined chirp oscillatory variables. Sub-group analyses for resting EEG best discriminated non-mosaic FXS males via frontal theta resting relative power (AUC = 0.8759), even with data reduced to a 20-channel clinical montage (AUC = 0.9062). In the chirp task, FXS females and non-mosaic males were nearly perfectly discriminated by combined theta, alpha, and gamma power (AUC = 0.9444) and a combination of all variables (AUC = 0.9610), respectively. Results support use of resting and auditory oscillatory tasks to reliably identify neural deficit in FXS, and to identify specific translational targets for genetically-mediated sub-groups, supporting potential points for stratification.

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6. Grosprêtre S, Ruffino C, Derguy C, Gueugneau N. Sport and Autism: What Do We Know so Far? A Review. Sports Med Open;2024 (Oct 3);10(1):107.

Autism, or autism spectrum disorders, is a neurodevelopmental condition characterized by limitations in social interaction, communication skills, and repetitive behaviors. Although motor disorders were previously considered marginal in autism, recent research has highlighted their significance. Numerous studies have underscored the positive impact of sports on autistic individuals. This article presents a comprehensive overview of the literature regarding the effects of sport interventions on autistic individuals and aims to extract general and practical recommendations. Initially, the article reviews the various characteristics of autism that are positively impacted by sports, ranging from psycho-social skills to motor behavior. Subsequently, it examines how different configurations of sports practice (individual/collective, indoor/outdoor, etc.) may be suitable for autistic individuals. Literature research was conducted in two databases, resulting in the inclusion of 92 articles meeting longitudinal criteria (i.e., containing full sport/physical activity programs with pre-to-post analyses) out of 1665 initially identified articles. The findings suggest that individuals with autism can benefit from sports across a wide range of physical, psychological, and social factors. Importantly, there is no full contraindication for any activity, although some may require specific step-by-step preparation. Each activity has the potential to provide benefits in specific areas, as discussed in the article. In conclusion, further research is needed to explore the most effective strategies for implementing sports programs and maximizing their benefits for individuals across the autism spectrum.

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7. Kuo YC, Ni HC, Liu CH. The associations between self-rated autistic traits, social camouflaging, and mental health outcomes in Taiwanese anime, comics and games (ACG) doujin creators: an exploratory study. BMC Psychol;2024 (Oct 3);12(1):531.

BACKGROUND: Doujin (どうじん) is a Japanese term referring to a circle where people share the same interests, usually something that belongs to the Anime, Comics, and Games (ACG) subculture. Individuals who belong to it and create related works, known as ACG doujin creators, are usually described as socially awkward and at potential risk of isolation. In such a context, they may theoretically exhibit higher autistic traits and manifest camouflaging tendencies, which may consequently be associated with their mental health. Nonetheless, the impact of autistic traits and camouflaging on mental health in this subculture remains significantly underexplored. METHODS: We recruited 183 Taiwanese ACG doujin creators (age ranges from 18 to 41, 146 female and 37 male) via social networking platforms. Participants completed Chinese online surveys assessing socio-demographic information, doujin activities, past psychiatric history, the 35-item Version of Autism-Spectrum Quotient (AQ-35), Chinese version Camouflaging Autistic Traits Questionnaire (CAT-Q-Ch), the General Anxiety Disorder-7 (GAD-7), and the Patient Health Questionnaire-9 (PHQ-9). Linear regression analysis was employed to examine the associations between the aforementioned scales. RESULTS: Our findings revealed that among ACG doujin creators, descriptively higher level of AQ-35 and CAT-Q-Ch than previous studies were found. Moreover, we observed a positive association between camouflaging behaviours and most AQ-35 subscales, with the exception of the mindreading subscale. Additionally, we identified that both camouflaging and autistic traits were significantly linked to higher PHQ-9 and GAD-7 scores. CONCLUSIONS: Through this study, we gained insight into the distinctive characteristics of autistic traits, camouflaging behaviours, and mental health among Taiwanese ACG doujin creators, as the associations between the factors mentioned above are divergent compared to previous research. This topic demonstrated that camouflaging is also associated with adverse mental health in a subculture group.

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8. Li F, Cheng T, Yan M, Li T, Zhang T, Huang Y, Tang J. Analysis of the therapeutic effect of right mid-axillary approach in the surgical treatment of ASD and VSD in children. J Cardiothorac Surg;2024 (Oct 3);19(1):587.

BACKGROUND: To compare the therapeutic effects of right vertical infra-axillary thoracotomy (RVIAT) and Standard Median Sternotomy (SMS) in the repair of atrial septal defect (ASD) and ventricular septal defect (VSD), and to evaluate the safety and effectiveness of right subaxillary incision technique in the surgical treatment of common congenital heart disease (CHD) in children. METHODS: Data of children diagnosed with ASD repair or VSD repair at our center from September 2019 to September 2022 were collected. Based on propensity score matching, 214 children (107 in the RVIAT group and 107 in the SMS group) who completed ASD repair surgery and 242 children (121 in the RVIAT group and 121 in the SMS group) who completed VSD repair surgery were selected for the study. The perioperative and follow-up data of the two surgical approaches were compared to evaluate clinical efficacy. RESULTS: There was no statistically significant difference (p > 0.05) between the two surgical approaches in terms of surgical time, aortic occlusion time, total amount of ultrafiltration fluid, ICU stay time, and hospital stay; The intraoperative blood loss and total postoperative drainage fluid in the RVIAT group were lower than those in the SMS group (p < 0.05); The incidence of postoperative thoracic deformities in the SMS group is higher than that in the RVIAT group. CONCLUSION: The safety and effectiveness of the two approaches are similar, but RVIAT has less intraoperative bleeding, less postoperative drainage fluid and tube time, and better concealment and cosmetic effects, which is worthy of further clinical promotion and application.

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9. Marcelis A, Van Reet E. A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry. Case Rep Psychiatry;2024;2024:5535830.

Kinesin family member 11 (KIF11)-associated disorder, a rare condition caused by autosomal dominant mutations in the KIF11 gene, presents with microcephaly, chorioretinal dysplasia, lymphoedema, and varying degrees of intellectual disability. While intellectual disability is often described in the literature on KIF11 mutations, autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are only mentioned by a few authors but not thoroughly investigated. We present a case report of an 8-year-old boy with KIF11-associated disorder alongside ADHD and ASD but without intellectual disability. Genetic testing confirmed a KIF11 mutation. Cognitive, language, and motor assessments revealed delays in fine motor skills and attention deficits. The diagnosis of ADHD was confirmed by a child neurologist through multidisciplinary investigations, while the ASD diagnosis was established by a child psychiatrist. Despite the challenges of delayed psychiatric assessment, interventions including physiotherapy and medication management were initiated with positive results. We designed a parent support group survey that showed a higher prevalence of neurodevelopmental disorders in children with KIF11 mutations compared to the general population. Therefore, low-threshold referrals to a child psychiatrist have to be made when the potential presence of developmental problems is suspected. Collaboration between ophthalmologists, paediatricians, and child psychiatrists is crucial for early detection and intervention. Addressing developmental disorders promptly improves long-term outcomes and enhances quality of life. Moreover, gaining a deeper understanding of the higher prevalence of ASD and ADHD in individuals with KIF11 mutations could offer valuable insights into the genetic mechanisms underlying neurodevelopmental disorders.

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10. Mathée-Scott J, Prescott KE, Pomper R, Saffran J, Weismer SE. Prediction by Young Autistic Children from Visual and Spoken Input. J Autism Dev Disord;2024 (Oct 3)

Recent theoretical accounts suggest that differences in the processing of probabilistic events underlie the core and associated traits of autism spectrum disorder (ASD). These theories hypothesize that autistic individuals are differentially impacted by disruptions in probabilistic input relative to neurotypical peers. According to this view, autistic individuals assign disproportionate weight to prediction errors such that novel input is overweighted relative to the aggregation of prior input; this is referred to as ‘hyperplasticity’ of learning. Prediction among autistic individuals has primarily been examined in nonverbal, visual contexts with older children and adults. The present study examined 32 autistic and 32 cognitively-matched neurotypical (NT) children’s ability to generate predictions and adjust to changes in predictive relationships in auditory stimuli using two eye gaze tasks. In both studies, children were trained and tested on an auditory-visual cue which predicted the location of a reward stimulus. In Experiment 1 the cue was non-linguistic (instrumental sound) whereas in Experiment 2 the cue was linguistically-relevant (speaker gender). In both experiments, the cue-reward contingency was switched after the first block of trials, and predictive behavior was evaluated across a second block of trials. Results: Analyses of children’s looking behavior revealed similar performance in both groups on the non-linguistic task (Exp. 1). In the linguistically-relevant task (Exp. 2), predictive looking was less disrupted by the contingency switch for autistic children than NT children. Results suggest that autistic children may demonstrate hyperplastic learning in linguistically-relevant contexts, relative to NT peers.

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11. Natraj S, Kojovic N, Maillart T, Schaer M. Video-audio neural network ensemble for comprehensive screening of autism spectrum disorder in young children. PLoS One;2024;19(10):e0308388.

A timely diagnosis of autism is paramount to allow early therapeutic intervention in preschoolers. Deep Learning tools have been increasingly used to identify specific autistic symptoms. But they also offer opportunities for broad automated detection of autism at an early age. Here, we leverage a multi-modal approach by combining two neural networks trained on video and audio features of semi-standardized social interactions in a sample of 160 children aged 1 to 5 years old. Our ensemble model performs with an accuracy of 82.5% (F1 score: 0.816, Precision: 0.775, Recall: 0.861) for screening Autism Spectrum Disorders (ASD). Additional combinations of our model were developed to achieve higher specificity (92.5%, i.e., few false negatives) or sensitivity (90%, i.e. few false positives). Finally, we found a relationship between the neural network modalities and specific audio versus video ASD characteristics, bringing evidence that our neural network implementation was effective in taking into account different features that are currently standardized under the gold standard ASD assessment.

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12. Potts B, White HP. Student radiographers’ confidence of adapting practice for autistic patients: A qualitative survey on the role of placement experiences. Radiography (Lond);2024 (Oct 3);30 Suppl 2:34-41.

INTRODUCTION: Healthcare services can be inaccessible to autistic people without adaptions to clinical practice and the care provided. Therefore, understanding how radiographer education develops students’ confidence in adapting care for autistic patients is crucial. This study aimed to explore how placement experience impacts student radiographer confidence in adapting care for autistic patients. METHODS: UK final-year student diagnostic and therapeutic radiographers were invited to complete a qualitative online survey. The survey asked for a description of placement experiences; of observing and/or performing the care of autistic patients and how this impacted confidence in caring for autistic patients. The data was thematically analysed. RESULTS: 43 responses (of 44 received) were included, from which 5 themes emerged. Those who felt placement experiences developed confidence described opportunities to apply theory learnt at university (theme 1) or drew attention to the benefit of prior (external) experience with autistic people (theme 3). However, the balance of power with the supervising radiographer (theme 2), witnessing autistic patients in distress (theme 4), and the heterogeneous nature of autism (theme 5) disrupted students’ development of confidence. CONCLUSION: Several participants in this study found clinical placement developed confidence with autistic patients through applying knowledge and providing an opportunity for reflexive learning. However, various obstacles hindered this development, such as witnessing distressed patients, limited experiences with autistic patients and difficulty navigating relationships with radiographers. IMPLICATIONS FOR PRACTICE: To improve student radiographers’ confidence of providing care for autistic patients, educators should consider methods, e.g., co-produced simulation, to fill potential gaps in their experience. There is also a pressing need for all radiographers to understand their responsibility in educating students and their impact on student wellbeing.

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13. Prabhakaran N, Maria AM, N R, Kaku SM. Evaluating Sleep in Autism Using CSHQ and CSHQ-Autism – A Perspective Through the Cultural Lens. J Autism Dev Disord;2024 (Oct 3)

The Child Sleep Hygiene Questionnaire (CSHQ) and its adapted version for autistic children, known as CSHQ-Autism, have gained recognition as essential tools for studying pediatric sleep patterns. 67 autistic children were evaluated using these questionnaires. 52 children screened positive on the CSHQ while 18 were screened positive on the CSHQ-Autism. Notably, both tools showed elevated ratings in the domains of sleep anxiety and co-sleeping, which may hinder their ability to accurately distinguish sleep disturbances. However, the prevalence of sleep anxiety/co-sleeping in Indian culture was found to be linked to more severe sleep disorders, while also serving as a protective factor against separation anxiety and sudden infant death syndrome (SIDS). Therefore, while the CSHQ and CSHQ-Autism serve as valuable assessment tools, their scores may be inflated by ingrained cultural norms in the Indian context.

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14. Sá R, Michelassi GC, Butrico DDS, Franco FO, Sumiya FM, Portolese J, Brentani H, Nunes FLS, Machado-Lima A. Enhancing ensemble classifiers utilizing gaze tracking data for autism spectrum disorder diagnosis. Comput Biol Med;2024 (Sep 30);182:109184.

PROBLEM: Diagnosing Autism Spectrum Disorder (ASD) remains a significant challenge, especially in regions where access to specialists is limited. Computer-based approaches offer a promising solution to make diagnosis more accessible. Eye tracking has emerged as a valuable technique in aiding the diagnosis of ASD. Typically, individuals’ gaze patterns are monitored while they view videos designed according to established paradigms. In a previous study, we developed a method to classify individuals as having ASD or Typical Development (TD) by processing eye-tracking data using Random Forest ensembles, with a focus on a paradigm known as joint attention. AIM: This article aims to enhance our previous work by evaluating alternative algorithms and ensemble strategies, with a particular emphasis on the role of anticipation features in diagnosis. METHODS: Utilizing stimuli based on joint attention and the concept of « floating regions of interest » from our earlier research, we identified features that indicate gaze anticipation or delay. We then tested seven class balancing strategies, applied seven dimensionality reduction algorithms, and combined them with five different classifier induction algorithms. Finally, we employed the stacking technique to construct an ensemble model. RESULTS: Our findings showed a significant improvement, achieving an F1-score of 95.5%, compared to the 82% F1-score from our previous work, through the use of a heterogeneous stacking meta-classifier composed of diverse induction algorithms. CONCLUSION: While there remains an opportunity to explore new algorithms and features, the approach proposed in this article has the potential to be applied in clinical practice, contributing to increased accessibility to ASD diagnosis.

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15. Savaldi-Harussi G, Uziel S. Frequency of Hebrew word usage by children with intellectual and developmental disabilities: implications for AAC core vocabulary. Augment Altern Commun;2024 (Oct 3):1-9.

Appropriate vocabulary selection for augmentative and alternative communication (AAC) intervention is crucial to support communication and language development in children with intellectual and developmental disabilities (IDD). Core vocabulary lists are commonly used to guide this process, and there is a need for language-specific consideration. This paper aimed to develop a wordlist for selecting the core vocabulary for AAC intervention for young Hebrew-speaking children with IDD. Five children (age 3;5-8;4) were audio-recorded in naturalistic interactions with an interviewer and family members. Using Levy’s clinical corpus in the Child Language Data Exchange System (CHILDES) and Child Phonology Analyzer (CPA) tools and preestablished codes, wordlists with usage frequencies were extracted and coded for lexeme, lexical categories and functions or content. The percentages of the 20, 50, 100, and 200 most frequent lexemes were calculated for each child and for the five children combined. The top 200 most frequently used lexemes constituted 85% of the composite lexicon. A comparison was made between this study list and a previous list derived from language samples of typically developing (TD). Lexemes representing function words dominated, albeit with a slight preference for content words in children with IDD. Among the content words, children with IDD used more adverbs, while children with TD used more verbs. Implications for AAC core vocabulary are discussed.

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16. Schafer EC, Gopal KV, Mathews L, Miller S, Lam BPW. Impact of an Auditory Processing Training Program on Individuals With Autism Spectrum Disorder. Am J Audiol;2024 (Oct 1):1-16.

PURPOSE: Children and young adults diagnosed with autism spectrum disorder (ASD) often report and exhibit significant auditory processing difficulties, particularly in background noise. This study extends our previous work by examining the potential benefits of a 12-week auditory processing training (APT) program designed to address the auditory processing difficulties in individuals with ASD via auditory training and the use of remote-microphone technology. Effect sizes of training benefits also were calculated, and principal component analysis (PCA) was used to consolidate performance across various tests into fewer meaningful constructs related to auditory processing in this population. METHOD: Twenty-eight children and young adults with ASD participated in a 12-week APT program that included one-on-one speech-in-noise training, computerized dichotic training, and use of remote-microphone technology at home and at school. Before and after training, each participant completed tests of speech recognition in noise, spatial processing, binaural integration, and general auditory processing skills. RESULTS: Significant performance improvements and medium-to-large effect sizes were found across most test measures after the participants completed the APT program and when using the remote-microphone system. PCA identified strong relationships among all test measures as well as documented the relationships between behavioral performance, training duration, and training improvements. CONCLUSIONS: The APT program significantly improved spatial processing, binaural integration, phonological processing, auditory memory, auditory cohesion, and speech recognition in noise in individuals with ASD when the remote-microphone system was used. PCA analysis of pre- and posttraining data showed a strong relationship among all test measures, suggesting an abbreviated auditory processing test battery may be feasible for individuals with ASD. Training duration (minutes) and training improvements were associated with performance outcomes measured by the test battery.

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17. Sörnyei D, Vass Á, Németh D, Farkas K. Autistic and schizotypal traits exhibit similarities in their impact on mentalization and adult attachment impairments: a cross-sectional study. BMC Psychiatry;2024 (Oct 3);24(1):654.

BACKGROUND: Deficits in mentalizing and attachment occur in the autism and schizophrenia spectrum, and their extended traits in the general population. Parental attachment and the broader social environment highly influence the development of mentalizing. Given the similarities in the symptomatology and neurodevelopmental correlates of autism spectrum disorder (ASD) and schizophrenia (SCH), it is crucial to identify their overlaps and differences to support screening, differential diagnosis, and intervention. METHODS: This cross-sectional study utilized questionnaire data from 2203 adults (65.1% female, mean age[SD] = 37.98[9.66]), including participants diagnosed with ASD, SCH, and those exhibiting subclinical traits to investigate the associations between mentalizing, attachment, and perceived social support during adolescence across the autistic and schizotypy spectrum. RESULTS: It was revealed that both autistic and schizotypal traits have comparable effects on insecure adult attachment, primarily through challenges in mentalizing. The impact of mentalizing deficits on adult attachment slightly varies between autistic and schizotypal traits. Conversely, perceived social support during adolescence relates to improved mentalizing and secure adult attachment as a protective factor during development. CONCLUSIONS: These outcomes highlight the significance of supportive therapeutic relationships and community care while suggesting directions for further research and collaborative treatments addressing ASD and SCH, considering the differential impact of mentalizing on adult attachment.

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18. Spaargaren KL, Begeer SM, Greaves-Lord K, Riper H, van Straten A. Protocol of a randomized controlled trial into guided internet-delivered cognitive behavioral therapy for insomnia in autistic adults (i-Sleep Autism). Contemp Clin Trials;2024 (Sep 30);146:107704.

BACKGROUND: Sleep problems, especially insomnia, are prevalent among autistic adults, affecting about 60 %, and significantly impact their quality of life. Internet-based cognitive behavioral therapy for insomnia (iCBT-I) could provide accessible and scalable treatment. Given the unique sensory- and information processing, and social challenges at play in autism, a tailored treatment approach may be essential to tackle sleep problems. Yet, interventions developed and tested specifically for autistic adults were scarce. Addressing this gap is crucial to meet the urgent need for effective insomnia treatments in this population. METHODS: With this two-arm, parallel, superiority randomized controlled trial, we will assess the effectiveness of a guided iCBT-I intervention for adults (N = 160) with autism and insomnia (i-Sleep Autism). In co-creation, i-Sleep Autism has been adjusted from an existing intervention (i-Sleep). Inclusion criteria are: age ≥ 18, an ASD diagnosis, and at least sub-threshold insomnia (Insomnia Severity Index ≥10). Participants are randomly assigned to either i-Sleep Autism or an information only waitlist control condition (online psychoeducation and sleep hygiene). After 6 weeks, the control group receives the intervention. Insomnia severity is the primary outcome. Secondary outcomes include pre-sleep arousal, general mental health, depression, anxiety, daily functioning, and quality of life. Assessments will occur at baseline, mid-intervention (3 weeks), post-intervention (6 weeks), and at 6-month follow-up (the intervention group). Linear mixed-effect regression models are employed to evaluate the effectiveness of i-Sleep Autism, alongside exploration of potential moderators and mediators. CONCLUSION: This trial can reveal whether autistic adults with insomnia benefit from a guided e-health intervention. TRIAL REGISTRATION: NL-OMON56692.

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19. Xie K, Sun Y, Li X, Yang S, Wang M, Zhang Y, Wang Q, Wu K, Kong D, Guo T, Luo X, Chen W. Biomarkers and pathways in autism spectrum disorder: An individual meta-analysis based on proteomic and metabolomic data. Eur Arch Psychiatry Clin Neurosci;2024 (Oct 3)

The utilization of biomarkers for the diagnosis and management of autism spectrum disorders (ASD) remains a relatively unexplored frontier in clinical practice. Proteomics and metabolomics are important tools for revealing key biomarkers and evaluating biological pathways in ASD. We conducted an individual meta-analysis to compare the consistency of biomarkers of ASD from central nervous system (brain and cerebrospinal fluid), circulatory system (blood), and non-invasive samples (urine, saliva, and faeces) and performed pathway enrichment analyses to identify pathways enriched in ASD. After screening 926 proteomics and 619 metabolomics articles, we collected data from 10 studies involving 940 differential proteins and 16 studies assessing a total of 748 differential metabolites. In brain tissue, blood, and urine of ASD cases and controls, flotillin-2 (FLOT2), apolipoprotein E (ApoE), and EH domain-containing protein 3 (EHD3) exhibit differential expression, while vinculin (VCL) displays variations in saliva, blood, and urine. Similarly, in case-control studies, gelsolin (GSN) shows differential expression in brain tissue, saliva, and urine, and malate dehydrogenase 2 (MDH2) in brain tissue, blood, and saliva. Hippuric acid and salicyluric acid were simultaneously found in the brain, blood, urine, and faeces. In terms of pathways, glycolysis/gluconeogenesis, carbon metabolism, and glutathione metabolism were enriched in the brain as well as in saliva or urine. In our study, we identified six shared protein and two metabolic markers in central nervous system, circulatory system, and non-invasive samples, underscoring their potential value for ASD diagnosis and management, warranting further research.

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20. Yu Y, Zhang B, Wang N, Zuo Z, Ji P, Zhao F. Unravelling lipidomic disruptions across multiple tissues in Chd8 -mutant ASD mice through integration of lipidomics and single-cell transcriptomics. Gut;2024 (Oct 2)

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