1. Balabanovska M, Leadbitter K, Jurek L, Mengarelli F, Falissard B, Ngan N, Aldred C, Green J, Geoffray MM. Parent and professional perspectives on implementing the Pediatric Autism Communication Therapy: A mixed-methods analysis. Autism;2024 (Jul 30):13623613241262943.

Factors influencing the implementation of parent-mediated intervention are insufficiently studied. This study examines for the first-time factors of implementation into clinical practice across the world of Pediatric Autism Communication Therapy, an internationally disseminated, evidence-based, parent-mediated therapy. From both the parents’ and the professionals’ perspectives, parents attitudes (e.g. self-reflection abilities and videotaping management) and life-circumstances (e.g. stressed families condition and time) were central factors. In this type of therapy, the target is a child’s development; still, this improvement is dependent on the parent’s behavior when interacting with their child. What’s more, Pediatric Autism Communication Therapy method (video reflection, empowerment of parent, play-based) was enabler according to most of the parents. And more, most professionals report factors linked to the Implementation Process that is planning, execution, reflection and assessment in implementation of a new therapy. Indeed, the professionals underlined barriers related to the population seen in practice, flexibility of schedule, support from colleagues and manager. All these factors could be improved and addressed with a formal implementation plan including factors related to the parents of each country.

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2. Bent CA, Aulich A, Constantine C, Fidock E, Dwyer P, Green C, Smith J, Gurba AN, Harrington LT, Gore KE, Rabba AS, Ayton LN, Fordyce K, Green J, Jellett R, Kennedy LJ, MacDuffie KE, Meera SS, Watson LR, Whitehouse AJ, Hudry K. Autistic and autism community perspectives on infant and family support in the first two years of life: Findings from a community consultation survey. Autism;2024 (Jul 30):13623613241262077.

Most support programmes for Autistic children are available only after they are diagnosed. Research suggests that parenting supports may be helpful for parents and their infants, when provided in the first 2 years of life – before a formal diagnosis is given, but when information suggests an infant is more likely to be Autistic. However, we do not know how acceptable these types of supports might be to the Autistic and autism communities. We asked 238 Autistic and non-autistic people – some of whom were parents, and some of whom were professionals working in research, health and education – about their perspectives on very-early supports. People generally agreed that it could be acceptable to work with parents to help them understand and support their child’s specific needs and unique ways of communicating. People suggested a variety of support strategies could be acceptable, including parent education, changing the environment to meet an infant’s needs, and creating opportunities for infants’ to make choices and exercise control. People preferred respectful and accurate language – including the term ‘support’ (rather than ‘intervention’) and ‘early-in-life’ (rather than ‘at-risk’ of autism, or ‘pre-emptive’ when describing developmental stage). Continuing to work with community members will help to make sure autism support programmes are relevant and helpful.

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3. Cannon J, Cardinaux A, Bungert L, Li C, Sinha P. Reduced precision of motor and perceptual rhythmic timing in autistic adults. Heliyon;2024 (Jul 30);10(14):e34261.

Recent results suggest that autistic individuals exhibit reduced accuracy compared to non-autistic peers in temporally coordinating their actions with predictable external cues, e.g., synchronizing finger taps to an auditory metronome. However, it is not yet clear whether these difficulties are driven primarily by motor differences or extend into perceptual rhythmic timing tasks. We recruited autistic and non-autistic participants for an online study testing both finger tapping synchronization and continuation as well as rhythmic time perception (anisochrony detection). We fractionated each participant’s synchronization results into parameters representing error correction, motor noise, and internal time-keeper noise, and also investigated error-correcting responses to small metronome timing perturbations. Contrary to previous work, we did not find strong evidence for reduced synchronization error correction. However, we found compelling evidence for noisier internal rhythmic timekeeping in the synchronization, continuation, and perceptual components of the experiment. These results suggest that noisier internal rhythmic timing processes underlie some sensorimotor coordination challenges in autism.

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4. Carvalho MR, Cavalcante TT, Oliveira PS, Naves PVF, Cunha PEL. Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings. Arq Neuropsiquiatr;2024 (Aug);82(8):1-2.

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5. Choi JH, Marsal-García L, Peraldi E, Walters C, Huang Z, Gantois I, Sonenberg N. Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology. Proc Natl Acad Sci U S A;2024 (Jul 30);121(31):e2407546121.

Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder engendered by transcriptional silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Given the early onset of behavioral and molecular changes, it is imperative to know the optimal timing for therapeutic intervention. Case reports documented benefits of metformin treatment in FXS children between 2 and 14 y old. In this study, we administered metformin from birth to Fmr1(-/y) mice which corrected up-regulated mitogen-2 activated protein kinase/extracellular signal-regulated kinase and mammalian/mechanistic target of rapamycin complex 1 signaling pathways and specific synaptic mRNA-binding targets of FMRP. Metformin rescued increased number of calls in ultrasonic vocalization and repetitive behavior in Fmr1(-/y) mice. Our findings demonstrate that in mice, early-in-life metformin intervention is effective in treating FXS pathophysiology.

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6. Christiansen J, Pedersen L. ADOS-2 Module 4: Psychometric Properties and Diagnostic Performance at an Autism-specialized Clinic. J Autism Dev Disord;2024 (Jul 30)

PURPOSE: Psychometric properties and diagnostic performance of the ADOS-2 module 4 were evaluated with participants from an autism-specialized clinic. METHODS: The sample had 331 participants with 226 males and 70 females receiving an ASD diagnosis. The evaluation consisted of the following: (1) A replication of the Exploratory Factor Analysis (EFA) reported by Hus, V., & Lord, C. (2014). The Autism Diagnostic Observation Schedule, Module 4: Revised Algorithm and Standardized Severity Scores. Journal of Autism and Developmental Disorders, 44(8), 1996-2012. https://doi.org/10.1007/s10803014-2080-3 .). (2) Identification of ADOS-2 items best predicting clinical diagnosis using Recursive Feature Elimination (RFE) and comparison of these items to previous findings. (3) Receiver Operating Characteristic (ROC) curve analyses of the effects of age and IQ on diagnostic performance. (4) Comparisons of ADOS-2 revised algorithm scores between females and males and their association with ADI-R scores. RESULTS: The EFA item-to-factor allocation of the ADOS-2 revised algorithm was largely reproduced. When comparing the present RFE to previous RFE findings, the item Quality of Social Responses stood out. ROC curve analysis showed outstanding diagnostic performance for adults with IQ above 70 but for females, ADOS-2 revised algorithm scores were lowered, and, contrary to males, did not correlate with ADI-R scores. CONCLUSION: Reproducing the item-to-factor allocation and finding outstanding agreement with the diagnostic decision for adults with IQ > 70 showcase the strength of the ADOS-2 revised algorithm. Furthermore, by incorporating, into future revisions, the finding of inter-clinic importance of the item Quality of Social Responses, performance might be further enhanced. Lastly, though, that female scores were lowered and did not correlate with ADI-R indicate a weakness in the ADOS-2 when applied to the adult female population.

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7. Daida A, Oana S, Nadkarni D, Espiritu BL, Edmonds BD, Stanecki C, Samuel AS, Rao LM, Rajaraman RR, Hussain SA, Matsumoto JH, Sankar R, Hannauer PS, Nariai H. Overnight EEG to Forecast Epilepsy Development in Children with Autism Spectrum Disorders. J Pediatr;2024 (Jul 27):114217.

OBJECTIVE: To establish the utility of long-term electroencephalogram (EEG) in forecasting epilepsy onset in children with autism spectrum disorder (ASD). STUDY DESIGN: A single-institution, retrospective analysis of children with ASD, examining long-term overnight EEG recordings collected over a period of 15 years, was conducted. Clinical EEG findings, patient demographics, medical histories, and additional Autism Diagnostic Observation Schedule (ADOS) data were examined. Predictors for the timing of epilepsy onset were evaluated using survival analysis and Cox regression. RESULTS: Among 151 patients, 17.2% (n=26) developed unprovoked seizures (Sz group), while 82.8% (n=125) did not (non-Sz group). The Sz group displayed a higher percentage of interictal epileptiform discharges (IEDs) in their initial EEGs compared with the non-Sz group (46.2% vs. 20.0%, p=0.01). The Sz group also exhibited a greater frequency of slowing (42.3% vs. 13.6%, p < 0.01). The presence of IEDs or slowing predicted an earlier seizure onset, based on survival analysis. Multivariate Cox proportional hazards regression revealed that the presence of any IEDs (HR 3.83, 95% CI 1.38-10.65, p=0.01) or any slowing (HR 2.78, 95% CI 1.02-7.58, p=0.046 significantly increased the risk of developing unprovoked seizures. CONCLUSION: Long-term EEGs are valuable for predicting future epilepsy in children with ASD. These findings can guide clinicians in early education and potential interventions for epilepsy prevention.

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8. Dong M, Telesca D, Guindani M, Sugar C, Webb SJ, Jeste S, Dickinson A, Levin AR, Shic F, Naples A, Faja S, Dawson G, McPartland JC, Şentürk D. Modeling intra-individual inter-trial EEG response variability in autism. Stat Med;2024 (Jul 30);43(17):3239-3263.

Autism spectrum disorder (autism) is a prevalent neurodevelopmental condition characterized by early emerging impairments in social behavior and communication. EEG represents a powerful and non-invasive tool for examining functional brain differences in autism. Recent EEG evidence suggests that greater intra-individual trial-to-trial variability across EEG responses in stimulus-related tasks may characterize brain differences in autism. Traditional analysis of EEG data largely focuses on mean trends of the trial-averaged data, where trial-level analysis is rarely performed due to low neural signal to noise ratio. We propose to use nonlinear (shape-invariant) mixed effects (NLME) models to study intra-individual inter-trial EEG response variability using trial-level EEG data. By providing more precise metrics of response variability, this approach could enrich our understanding of neural disparities in autism and potentially aid the identification of objective markers. The proposed multilevel NLME models quantify variability in the signal’s interpretable and widely recognized features (e.g., latency and amplitude) while also regularizing estimation based on noisy trial-level data. Even though NLME models have been studied for more than three decades, existing methods cannot scale up to large data sets. We propose computationally feasible estimation and inference methods via the use of a novel minorization-maximization (MM) algorithm. Extensive simulations are conducted to show the efficacy of the proposed procedures. Applications to data from a large national consortium find that children with autism have larger intra-individual inter-trial variability in P1 latency in a visual evoked potential (VEP) task, compared to their neurotypical peers.

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9. Feng Y, Huang X, Zhao W, Ming Y, Zhou Y, Feng R, Xiao J, Shan X, Kang X, Duan X, Chen H. Association among internalizing problems, white matter integrity, and social difficulties in children with autism spectrum disorder. Prog Neuropsychopharmacol Biol Psychiatry;2024 (Jul 27):111109.

Autism spectrum disorder (ASD) is characterized by social difficulties and often accompanied by internalizing and externalizing problems, which are frequently overlooked. Here, we examined and compared fractional anisotropy (FA) between 79 children with ASD (aged 4-7.8 years) and 70 age-, gender-, and handedness- matched typically developing controls (TDCs, aged 3-7.2 years). We aimed to explore the relationship among social difficulties, internalizing and externalizing problems, and brain structural foundation (characterized by white matter integrity). Compared with the TDCs, the children with ASD exhibited more severe internalizing and externalizing problems, which were positively correlated with social difficulties. Reduced FA values were observed in specific white matter tracts that integrate a fronto-temporal-occipital circuit. In particular, the FA values within this circuit were negatively correlated with internalizing problems and SRS-TOTAL scores. Mediation analysis revealed that internalizing problems mediated the relationship between the FA values in the left middle longitudinal fasciculus (L-MdLF) and corpus callosum forceps major (CCM) and social difficulties in children with ASD. These findings contribute to our understanding of social difficulties, internalizing and externalizing problems, and white matter integrity in children with ASD and highlight internalizing problems as a mediator between social difficulties and white matter integrity.

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10. Giua G, Strauss B, Lassalle O, Chavis P, Manzoni OJ. Adaptive group behavior of Fragile X mice in unfamiliar environments. Prog Neuropsychopharmacol Biol Psychiatry;2024 (Jul 27):111111.

Fragile X Syndrome (FXS) stands out as a prominent cause of inherited intellectual disability and a prevalent disorder closely linked to autism. FXS is characterized by substantial alterations in social behavior, encompassing social withdrawal, avoidance of eye contact, heightened social anxiety, increased arousal levels, language deficits, and challenges in regulating emotions. Conventional behavioral assessments primarily focus on short-term interactions within controlled settings. In this study, we conducted a comprehensive examination of the adaptive group behavior of Fmr1 KO male mice over a three-day period, without introducing experimental interventions or task-based evaluations. The data unveiled intricate behavioral anomalies, with the most significant changes manifesting during the initial adaptation to unfamiliar environments. Notably, certain behaviors exhibited a gradual return to typical patterns over time. This dynamic Fmr1 KO phenotype exhibited heightened activity, featuring increased exploration, amplified social interest, and an unconventional approach to social interactions characterized by a higher frequency of shorter engagements. These findings contribute to the growing understanding of social behavior in individuals with FXS and underscore the significance of comprehending their adaptive responses in various environmental contexts.

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11. Grigore B, Peters J, Williams J, Russell G, Coles P, Visintin C, Rogers M, Hayward R, Zhelev Z, Logan S, Hyde C. Screening for Autism Spectrum Disorder in Young Children: Still Not Enough Evidence. J Prim Care Community Health;2024 (Jan-Dec);15:21501319241263223.

BACKGROUND: Early detection of autism spectrum disorder (ASD) has the potential to significantly reduce the impact of the condition, however previous reviews have found little evidence to support screening programs for ASD in young children. METHODS: We conducted a review with the aim of updating evidence on 3 aspects: (a) diagnostic stability of ASD in young children; (b) accuracy of ASD screening tools in young children; and (c) the benefits of early interventions in screen-detected young children with ASD. RESULTS: A total of 33 studies were included in our review. Five studies looking at diagnostic stability reported estimates ranging from 71.9% to 100%, however the majority only included a follow-up of 24 months and all studies raised concerns regarding the risk of bias due particularly to lack of blinding, sample size, and patient flow. A total of 25 studies, reported in 26 articles, were identified that reported accuracy data on 11 screening tools. Most of the reports were concerned with versions of M-CHAT, reporting sensitivity estimates from 0.67 to 1.0; however, many of these were deemed to be of high risk of bias due to lack of blinding and follow-up. Four studies reported on early interventions in screen-detected children; however, the majority did not find significant improvements on the relevant outcomes. CONCLUSIONS: Overall, the evidence on screening for ASD in young children captured by this review is not conclusive regarding the 3 aspects of screening in this population. Future studies should attempt to ensure blinded diagnostic assessments, include longer follow-up periods and limit attrition.

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12. Hazan-Liran B, Walter O. Psychological Capital, Self-Advocacy, and Future Orientation among Adults on the Autism Spectrum. J Autism Dev Disord;2024 (Jul 30)

The paper offers an innovative exploration of the mediating role of psychological capital (PsyCap) in the relations between future orientation and self-advocacy among high-functioning adults on the autism spectrum. We posited that PsyCap, a composite of hope, self-efficacy, resilience, and optimism, serves as a crucial mediator of future orientation and self-advocacy. The sample comprised 40 high-functioning adults on the autism spectrum. Future orientation, self-advocacy, and PsyCap were significantly correlated among young adults with ASD. PsyCap was a mediator of the relations between future orientation and self-advocacy. The findings contribute to the understanding of psychological factors influencing self-advocacy and future orientation and have practical implications for interventions aimed at enhancing PsyCap to improve self-advocacy and future orientation in individuals with autism spectrum disorder.

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13. Hedley D, Uljarević M, Bury SM, Haschek A, Richdale AL, Trollor JN, Stokes MA. Examination of the Potential Moderating Role of Psychological Wellbeing in the Relationship Between Depression and Thoughts of Self-Harm in Autistic Adolescents and Adults: A Two-Year Longitudinal Study. J Autism Dev Disord;2024 (Jul 30)

PURPOSE: Autistic people have a significantly increased risk of death by suicide relative to the general population. In non-autistic samples, psychological wellbeing has been shown to moderate the relationship between depression and suicidal thoughts and behavior. Thoughts of self-harm may provide a useful indicator of suicidal risk. In this longitudinal study we examined (a) the potential role for psychological wellbeing to moderate the relationship between depressive symptoms and thoughts of self-harm and (b) the contribution of autistic traits to thoughts of self-harm. METHODS: Participants were 209 autistic adolescents and adults aged 15 to 80 years (M(age) = 34.20, SD = 15.38 years). RESULTS: At both baseline and 2-year follow-up, 35% of participants reported recent thoughts of self-harm. Wellbeing was associated with autistic traits (r = - .350 to - 0.404) and depression (r = - .480 to - 0.759). Thoughts of self-harm were positively associated with autistic traits and depression (r = .242 to 0.659), and negatively associated with wellbeing (r = - .287 to - 0.609). Controlling for baseline thoughts of self-harm, depression (β = 0.254, p = .001) and autistic traits (β = 0.162, p = .007) significantly predicted thoughts of self-harm at 2-year follow-up. CONCLUSION: Despite a lack of support for the hypothesis that wellbeing would moderate the relationship between depression and thoughts of self-harm, correlational data demonstrated significant associations between wellbeing and both depression and thoughts of self-harm. Future research considering psychological wellbeing as a potential protective factor for self-harm in autistic people is warranted.

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14. Herrera-Pino J, Benedetti-Isaac J, Ripoll-Córdoba D, Camargo L, Castillo-Tamara EE, Morales-Asencio B, Perea-Castro E, Torres Zambrano M, Ducassou A, Flórez Y, Porto MF, Gargiulo PA, Zurita-Cueva B, Caldichoury N, Coronado JC, Castellanos C, Ramírez-Penso C, López N. Effectiveness of deep brain stimulation on refractory aggression in pediatric patients with autism and severe intellectual disability: meta-analytic review. BMC Pediatr;2024 (Jul 30);24(1):487.

Some patients with autism and severe intellectual disability may experience uncontrolled aggression, causing serious injury or harm to others, and the therapeutic ineffectiveness of traditional pharmacological and behavioral treatment may aggravate symptoms. Deep brain stimulation (DBS) has been tested in patients with little evidence in children and adolescents. Therefore, we analyzed the efficacy and safety of DBS in refractory aggression in pediatric subjects with autism (ASD) and severe intelligence deficit (ID).Methods A meta-analytic review of Web of Science (WOS) and Scopus articles, following Prisma criteria. A total of 555 articles were identified, but after applying the inclusion criteria, only 18 were analyzed. The review of the registries and the extraction of information was performed by 2 independent groups, to reduce the evaluator’s bias. For the description of the results, pediatric patients with ASD or ID present in each registry, with an application of specialized scales (Overt aggression scale, OAS, and THE modified version of the OAS, MOAS) pre and post-DBS, with a clinical follow-up of at least 12 months, were considered valid. Clinical improvement was calculated using tests of aggressiveness. In each registry with available data and then pooling the means of all patients in the OAS and MOAS, the effect size of DBS (overall and per study) was estimated. Finally, the adapted NOS scale was applied to rate the studies’ quality and level of bias.Results In the studies analyzed, 65/100 were pediatric patients, with a mean age of 16.8 years. Most of the studies were conducted in South America and Europe. In all teams, aggressive behavior was intractable, but only 9 groups (53/65) applied specialized scales to measure aggressiveness, and of these, only 51 subjects had a follow-up of at least 12 months. Thus, in 48/51 a clinical improvement of patients was estimated (94.2%), with a considerable overall effect size (OAS: d = 4.32; MOAS: d = 1.46). However, adverse effects and complications were found in 13/65 subjects undergoing DBS. The brain target with the most evidence and the fewest side effects was the posteromedial hypothalamic nuclei (pHypN). Finally, applying the adapted NOS scale, quality, and bias, only 9 studies show the best indicators.Conclusion An optimal level of efficacy was found in only half of the publications. This is mainly due to design errors and irrelevant information in the reports. We believe that DBS in intractable aggressiveness in children and adolescents with ASD and severe ID can be safe and effective if working groups apply rigorous criteria for patient selection, interdisciplinary assessments, objective scales for aggressiveness, and known surgical targets.

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15. Kaplan-Kahn EA, Benecke RM, Guthrie W, Yerys BE, Holmes LG, Miller JS. Measurement invariance of the PROMIS emotional distress and subjective well-being domains among autistic and General Population adolescents. Qual Life Res;2024 (Jul 30)

PURPOSE: Quality of life (QoL) is identified as a clinical and research priority by the autistic community. Researchers have the responsibility to ensure that instruments used to measure QoL do so reliably and accurately among autistic participants. METHODS: Our study evaluated measurement invariance of Emotional Distress (Depression, Anxiety, Anger, Psychological Stress) and Subjective Well-Being (Life Satisfaction, Positive Affect, and Meaning & Purpose) scales of the Patient-Reported Outcomes Measurement Information System (PROMIS) among groups of autistic (N=140, n per scale=132-140) and general population (N=1,224, n per scale=406-411) teenagers (14-17 years). These scales were included in the PROMIS Autism Battery-Lifespan, which uses PROMIS scales to measure QoL domains most relevant for autistic people. RESULTS: Multi-group confirmatory factor analyses using permutation tests demonstrated that Depression and Positive Affect scales exhibited scalar invariance between groups, indicating that scores can be meaningfully compared across autistic and general population teens. Anger and Psychological Stress scales demonstrated metric invariance between groups, indicating that these scales measure the same latent trait in both groups, but group comparisons are not supported. CONCLUSION: We provide guidance as to how these scales can be used in psychometrically supported ways to capture constructs relevant for understanding QoL among autistic teens.

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16. Langdon PE, Apanasionok MM, Scripps E, Barrowcliff A, Biswas A, Bunning K, Burbidge C, Byron-Daniel K, Cookson A, Croom S, Filipczuk M, Gillespie D, Hastings RP, Jahoda A, McNamara R, Patterson L, Rai D, Steward R, Gray KM. Behavioural interventions to treat anxiety in adults with autism and moderate to severe intellectual disabilities: The BEAMS-ID feasibility study. J Appl Res Intellect Disabil;2024 (Sep);37(5):e13282.

BACKGROUND: The aim of this feasibility study was to adapt and model a behavioural intervention for anxiety with autistic adults with moderate to severe intellectual disabilities. METHOD: Twenty-eight autistic adults with moderate or severe intellectual disabilities, 37 carers, and 40 therapists took part in this single-group non-randomised feasibility study designed to test intervention feasibility and acceptability, outcome measures, and research processes. RESULTS: The intervention was judged as feasible and acceptable by autistic adults with intellectual disabilities, carers, and therapists. Minor intervention revisions were suggested. Carers completed 100% of outcome measures and the missing data rate was low. Complying with legislation governing the inclusion of participants who lack capacity to decide whether they wanted to take part in this study led to an average 5-week enrolment delay. CONCLUSION: The intervention and associated study processes were judged to be feasible and acceptable and should now be tested within a larger randomised trial.

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17. Li M, Wang Y, Gao H, Xia Z, Zeng C, Huang K, Zhu Z, Lu J, Chen Q, Ke X, Zhang W. Exploring autism via the retina: Comparative insights in children with autism spectrum disorder and typical development. Autism Res;2024 (Jul 29)

Autism spectrum disorder (ASD) is a widely recognized neurodevelopmental disorder, yet the identification of reliable imaging biomarkers for its early diagnosis remains a challenge. Considering the specific manifestations of ASD in the eyes and the interconnectivity between the brain and the eyes, this study investigates ASD through the lens of retinal analysis. We specifically examined differences in the macular region of the retina using optical coherence tomography (OCT)/optical coherence tomography angiography (OCTA) images between children diagnosed with ASD and those with typical development (TD). Our findings present potential novel characteristics of ASD: the thickness of the ellipsoid zone (EZ) with cone photoreceptors was significantly increased in ASD; the large-caliber arteriovenous of the inner retina was significantly reduced in ASD; these changes in the EZ and arteriovenous were more significant in the left eye than in the right eye. These observations of photoreceptor alterations, vascular function changes, and lateralization phenomena in ASD warrant further investigation, and we hope that this work can advance interdisciplinary understanding of ASD.

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18. Lian R, Wu G, Xu F, Zhao S, Li M, Wang H, Jia T, Dong Y. Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China. Orphanet J Rare Dis;2024 (Jul 29);19(1):281.

BACKGROUND: Lamb-Shaffer syndrome (LAMSHF, OMIM: 616803) is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, which is attributed to haploinsufficiency by heterozygous variants of SOX5 gene (SRY-Box Transcription Factor 5, HGNC: 11201) on chromosome 12p12. A total of 113 cases have been reported in the world, however, only 3 cases have been reported.in China. Here, we aimed to report novel variants of SOX5 gene and provide examples for clinical diagnosis by reporting the clinical phenotype of a series of Chinese patients with LAMSHF. METHODS: This study retrospectively collected the information of families of LAMSHF patients in China. Whole Exome Sequencing (WES) were performed to confirm the diagnosis of 4 children with unexplained developmental delay or epilepsy. A minigene splicing assay was used to verify whether the splice variant affected splicing. Meanwhile, a literature review was conducted to analyze the clinical and genetic characteristics of patients with LAMSHF. RESULTS: Three of the LAMSHF patients had a de novo heterozygous mutation in the SOX5 gene respectively, c.290delC (p.Pro97fs*30), chr12:23686019_24048958del, c.1772-1C > A, and the remaining one had a mutation inherited from his father, c.1411C > T (p.Arg471*). The main clinical manifestations of these children were presented with global developmental delays, and one of them also had seizures. And the results of the minigene experiment indicated that the splice variant, c.1772-1C > A, transcribed a novel mRNA product which leaded to the formation of a truncated protein. CONCLUSIONS: Through a comprehensive review and analysis of existing literature and this study showed intellectual disability, speech delay and facial dysmorphisms were common clinical manifestation, while the seizures and EEG abnormalities were rare (21/95, 22.16%). Notably, we represent the largest sample size of LAMSHF in Asia that encompasses previously unreported SOX5 gene mutation, and a minigene testing have been conducted to validate the pathogenicity of the c.1772-1C > A splice variant. The research further expands the phenotype and genotype of LAMSHF while offers novel insights for potential pathogenicity of genes locus.

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19. McDonald RG, Cargill MI, Khawar S, Kang E. Emotion dysregulation in autism: A meta-analysis. Autism;2024 (Jul 30):13623613241257605.

Autistic people often experience other mental health challenges, which makes it particularly important to understand factors that may contribute to the development of these conditions. Emotion dysregulation, or difficulties in effectively regulating one’s own emotions in response to a changing environment, is one factor that is experienced frequently by autistic and non-autistic people and is commonly related to a wide range of mental health conditions. This article represents a quantitative synthesis of the current state of the literature on emotion dysregulation, with a specific focus on how the severity of emotion dysregulation differs across autistic and non-autistic people across the lifespan. The findings suggest elevated emotion dysregulation in autistic individuals compared to both neurotypical and other clinical populations and provide insights into the experiences of emotion dysregulation in autistic people. Overall, this article underscores the importance of more research into emotion dysregulation in autistic people to inform areas of challenges related to emotion dysregulation that can be used to better inform treatment targets.

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20. Mohammed MA, Abdalkhalig EM, Ali IA, Hassan SS, Osman H. Pattern of sleep disorders among children with autism spectrum disorder. BMC Psychiatry;2024 (Jul 30);24(1):539.

BACKGROUND: Sleep disorders (SDs) are among many co-morbid medical conditions that affect children with autism spectrum disorder (ASD). Raising awareness and improving the standard of care for children diagnosed with ASD may result from identifying SDs among them. This study aims to evaluate patterns of SDs among Sudanese children diagnosed with ASD. METHOD: Using the Childhood Sleep Habit Questionnaire (CSHQ) to gather data on sleep disorders and SPSS version 26.0 for data analysis, a descriptive cross-sectional study was carried out in the five main autistic centres in Khartoum state covering all registered patients with ASD between April and June 2022. Ninety-two children diagnosed with ASD were enrolled in this study after the purpose of the research was explained and consent was obtained from their guardians. A p-value < 0.05 was considered to indicate statistical significance. RESULTS: The mean age was 6.90 (± 2.6) years with a boys-to-girls ratio of 2.17:1. The prevalence of SDs (at least one sleep condition almost daily) was 95.65%. Sleep onset 71 (77.2%), limit setting 32 (32.6%), resistant onset to sleep 48 (52.2%), and combined 52 (56.5%) insomnia affected the majority of children. Additionally, there were significant associations between sex and Limit-setting insomnia, advanced sleep phase disorder, and narcolepsy type 2 (P values = 0.033, 0.009, and 0.037, respectively). Additionally, there was a significant association between age and sleep-related breathing disorders-snoring (p value = 0.031). CONCLUSION: The frequency of SDs is significant among children diagnosed with ASD from Sudan, and certain SDs are associated with age and sex. Subsequent studies are required to develop national guidelines for the prevalence, presentation, screening, and treatment of SDs in children diagnosed with ASD.

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21. Morgan J, Zavras AT. Oral health care for individuals with intellectual and developmental disabilities: A statewide model. Spec Care Dentist;2024 (Jul 29)

BACKGROUND AND AIM: Effective strategies and practices can assist in forming future initiatives and policies to improve oral health for individuals with intellectual and developmental disabilities (IDD). This manuscript aims to describe the Tufts Dental Facilities (TDF), a university-state collaboration providing sustained statewide access to comprehensive oral health care for individuals with IDD. PROGRAM DESCRIPTION: The TDF program was established in 1976 as the result of a class action lawsuit to improve medical and dental care for individuals with IDD residing at state institutions in Massachusetts. TDF, A partnership, between Tufts University School of Dental Medicine (TUSDM) and the Commonwealth of Massachusetts, is a network of seven dental clinics strategically positioned across the state. These clinics are specifically designed to meet the oral health needs of individuals with IDD. TUSDM’s oral health providers with expertise in special care dentistry deliver comprehensive oral health care for over 6500 individuals with IDD, incorporating supportive care services and access to general anesthesia. Additionally, the program provides training in special care dentistry for dental residents and pre-doctoral dental students. CONCLUSIONS: Leveraging state and university resources, TDF provides a model of a sustainable, long-term system for statewide access to oral health care for individuals with IDD.

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22. Scahill L, Lecavalier L, Edwards MC, Wenzell ML, Barto LM, Mulligan A, Williams AT, Ousley O, Sinha CB, Taylor CA, Youn Kim S, Johnson LM, Gillespie SE, Johnson CR. Toward better outcome measurement for insomnia in children with autism spectrum disorder. Autism;2024 (Jul 29):13623613241255814.

Insomnia, trouble falling asleep or staying asleep, is common in autistic children. In a previous report, we described the results of focus groups with parents of autistic children toward the development of the Pediatric Autism Insomnia Rating Scale. In this article, we report on the steps taken to complete the Pediatric Autism Insomnia Rating Scale. With help from the Simons Foundation registry, we collected information from parents on 1185 children with autism spectrum disorder to test the new measure. These results were evaluated using standard statistical methods such as factor analysis. To confirm the validity of the new measure, we enrolled a separate sample of 134 autistic children for a detailed assessment by video conference. This step showed that the Pediatric Autism Insomnia Rating Scale is clearly measuring symptoms of insomnia in children with autism spectrum disorder and not related problems such as hyperactivity, repetitive behavior, or anxiety. We also showed that the total score on the Pediatric Autism Insomnia Rating Scale is stable when repeated over a brief period of time. This is important because a measure that is not stable over a brief period of time would not be suitable as an outcome measure. In summary, the Pediatric Autism Insomnia Rating Scale is a brief and valid measure of insomnia in children with autism spectrum disorder that provides reliable scores.

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23. Willfors C, Borg J, Kleberg JL, Hallman A, Van Der Poll M, Lundin Remnélius K, Björlin Avdic H, Bölte S, Nordgren A. Symptoms of autism in Williams syndrome: a transdiagnostic approach. Sci Rep;2024 (Jul 30);14(1):17583.

Williams syndrome (WS) is associated with atypical social communication and cognition reminiscent of the behaviours observed in autism. Nonetheless, WS also differs significantly from autism, such as regarding social motivation, which is typically enhanced in WS and reduced in autism. This study sought to examine the conditions’ transdiagnostic similarities and differences for autistic symptoms and social functioning, and their developmental trajectories, by comparing individuals with WS (n = 24) and those diagnosed with idiopathic autism (n = 24) and attention deficit hyperactivity disorder (ADHD; n = 24), aged 9 to 53 years, on measures of autism, social functioning, IQ and cooccurring psychiatric conditions. Although only 12.5% in the WS group met the criteria for an autism diagnosis, a majority exhibited distinct difficulties within social communication, social cognition, repetitive behaviours, and atypical sensory reactivity resembling autism. Conversely, elevated social motivation and a high number of social initiatives accompany these characteristics. No group differences in the developmental trajectories of autism symptoms were found. Our results demonstrate that autistic behaviours are more frequent in individuals with WS, than in individuals with idiopathic ADHD, and emphasize the need for clinical management of these behaviours.

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24. Zhao W, Le J, Liu Q, Zhu S, Lan C, Zhang Q, Zhang Y, Li Q, Kou J, Yang W, Zhang R, Becker B, Zhang L, Kendrick KM. A clustering approach identifies an Autism Spectrum Disorder subtype more responsive to chronic oxytocin treatment. Transl Psychiatry;2024 (Jul 29);14(1):312.

Over the last decade, a number of clinical trials have reported effects of chronic treatment with intranasal oxytocin on autistic symptoms but with inconsistent findings. Autism is a heterogeneous disorder and one factor which may influence treatment outcome is whether a subtype of individuals is more sensitive to oxytocin. In a recent cross-over trial on 41 young autistic children we reported that 44% showed a reliable improvement in clinical symptoms (Autism Diagnostic Observation Schedule, ADOS-2) after a placebo-controlled, 6-week intranasal oxytocin intervention where treatment was given every other day followed by a period of positive social interaction. In the current re-assessment of the data, we used an unsupervised data-driven cluster analysis approach to identify autism subtypes using 23 different demographic, social subtype, endocrine, eye-tracking and clinical symptom measures taken before treatment and this revealed an optimum of two different subtypes. We then assessed the proportion of identified responders to oxytocin and found that while 61.5% of one subtype included responders only 13.3% of the other did so. During the placebo phase there was no difference between the two subtypes for the small proportion of responders (19.2% vs 6.7%). This oxytocin-sensitive subtype also showed overall significant post-treatment clinical and eye-tracking measure changes. The oxytocin-sensitive subtype was primarily characterized at baseline by lower initial clinical severity (ADOS-2) and greater interest in the eye-region of emotional faces. These features alone were nearly as efficient in identifying the two subtypes as all 23 baseline measures and this easy-to-conduct approach may help rapidly and objectively screen for oxytocin responders. Future clinical trials using oxytocin interventions may therefore achieve greater success by focusing on children with this specific autism subtype and help develop individualized oxytocin intervention.

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