1. Abeasi DA, Nkosi NG, Suglo JN. Well-being focused interventions for caregivers of children with developmental disabilities: a scoping review protocol. BMJ open. 2023; 13(4): e066179.

INTRODUCTION: Children with developmental disability (DD) may depend on their family caregivers to fulfil their complex health needs. Family caregivers are generally described as persons providing unpaid for services for the child with DD at home who need to be supported in a manner that supports and promotes his/her well-being. This review aims to identify and map the range of interventions available for caregivers of children between the ages of 5-16 with DD. METHODS AND ANALYSIS: The methodological framework for conducting scoping review as published by Arksey and O’Malley and the Joanna Briggs Institute’s guidelines will used in this study. Primary research articles will be obtained through a systematic search of CINAHL, Psych INFO, PubMed, ERIC and COCHRANE Library. Further grey literature will be obtained from Google Scholar search. Study selection process will be done by two independent researchers based on a predetermined inclusion criteria. Review findings comprising interventions, intervention components and outcomes will be presented using tables and narrative text. DISCUSSION: The proposed scoping review will give an extensive review of interventions aimed at improving the well-being of caregivers of children with DD. This scoping review would provide recommendations on interventions that have significantly improved the well-being caregivers of children with DD. Additionally, the review would guide future work on intervention development and primary research in this field. REGISTRATION: This scoping review protocol has been registered with the Open Science Framework (https://osf.io/tkbrh).

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2. Araújo M, Jorge JC, do Carmo Santos M, Vilhena E, Oliveira P, Freitas PP. Screening for Autism Spectrum Disorders – Validation of the Portuguese Version of the Social Communication Questionnaire. Child psychiatry and human development. 2023.

There are no assessment and screening tools for Autism Spectrum Disorders (ASD) validated for the Portuguese population. The Social Communication Questionnaire (SCQ) is an useful screening tool of ASD diagnosis. The main objectives of our study were to produce a Portuguese version of the SCQ (SCQ-PF), study its internal consistency, sensitivity and specificity in order to evaluate its validity as a screening instrument for ASD. We also wanted to study the impact of intellectual disability and verbal impairment and other mental disorders on SCQ-PF psychometric properties. The study included 211 children and adolescents, aged 4-17, divided in three groups: ASD Group (n = 96), Other Mental Disorders Group (OMD) (n = 63) and No Mental Disorders (NMD) Group (n = 52). Parents or other primary caregiver provided information on the SCQ items. The SCQ-PF score was significantly higher in the ASD group than in the other groups (p < 0.001). As to internal consistency, Cronbach's alpha was 87%. ASD subjects were distinguished from subjects without ASD (OMD and NMD Groups) and the area under the curve (AUC) was 0.897 (95% Confidence Interval: 0.852-0.943), for a cutoff of 14, which yielded the highest AUC, with values of sensitivity and specificity 0.76 and 0.93, respectively. These findings show that SCQ- PF with a cutoff of 14 is an acceptable and useful screening tool for ASD in the Portuguese population.

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3. Boksha IS, Prokhorova TA, Tereshkina EB, Savushkina OK, Burbaeva GS. Differentiated Approach to Pharmacotherapy of Autism Spectrum Disorders: Biochemical Aspects. Biochemistry Biokhimiia. 2023; 88(3): 303-18.

Autism Spectrum Disorders (ASD) are highly heterogeneous neurodevelopmental disorders caused by a complex interaction of numerous genetic and environmental factors and leading to deviations in the nervous system formation at the very early developmental stages. Currently, there are no accepted pharmacological treatments for the so-called core symptoms of ASD, such as social communication disorders and restricted and repetitive behavior patterns. Lack of knowledge about biological basis of ASD, absence of the clinically significant biochemical parameters reflecting abnormalities in the signaling cascades controlling the nervous system development and functioning, and lack of methods for selection of clinically and biologically homogeneous subgroups are considered as causes for the failure of clinical trials of ASD pharmacotherapy. This review considers the possibilities of applying differentiated clinical and biological approaches to the targeted search for ASD pharmacotherapy with emphasis on biochemical markers associated with ASD and attempts to stratify patients by biochemical parameters. The use of such approach as « the target-oriented therapy and assessment of the target status before and during the treatment to identify patients with a positive response to treatment » is discussed using the published results of clinical trials as examples. It is concluded that identification of biochemical parameters for selection of the distinct subgroups among the ASD patients requires research on large samples reflecting clinical and biological diversity of the patients with ASD, and use of unified approaches for such studies. An integrated approach, including clinical observation, clinical-psychological assessment of the patient behavior, study of medical history and description of individual molecular profiles should become a new strategy for stratifying patients with ASD for clinical pharmacotherapeutic trials, as well as for evaluating their efficiency.

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4. Charbonneau DH, Ketcheson LR. Retracted publications in autism research are mostly concerned with ethical misconduct. Health information and libraries journal. 2023.

BACKGROUND: As the prevalence of autism appears to increase, more research to guide effective diagnosis and intervention practices is needed. Findings disseminated through peer-reviewed publications are critical, but the number of retractions continues to rise. An understanding of retracted publications is imperative to ensure the body of evidence is corrected and current. OBJECTIVES: The objectives of this analysis were to summarize key characteristics of retracted publications in autism research, examine the length of time between publication and retraction, and assess the extent journals are adhering to publishing ethical guidelines for reporting retracted articles. METHODS: We searched five databases through 2021 (PubMed, EMBASE, Scopus, Web of Science, and Retraction Watch). RESULTS: A total of 25 retracted articles were included in the analysis. Ethical misconduct accounted for the majority of retractions rather than scientific error. The shortest time to retraction was 2 months and the longest length was 144 months. DISCUSSION: The time lag between publication and retraction since 2018 has improved considerably. Nineteen of the articles had retraction notices (76%), whereas six articles did not have a notice (24%). CONCLUSION: These findings summarize errors of previous retractions and illuminate opportunities for researchers, journal publishers and librarians to learn from retracted publications.

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5. Cittadini C, Germinario EAP, Maroccia Z, Cosentino L, Maselli V, Gambardella L, Giambenedetti M, Guidotti M, Travaglione S, Fallerini C, Renieri A, Marcillo DIE, Ricceri L, Fortini P, De Filippis B, Fiorentini C, Fabbri A. Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study. Journal of cellular and molecular medicine. 2023.

The bacterial product CNF1, through its action on the Rho GTPases, is emerging as a modulator of crucial signalling pathways involved in selected neurological diseases characterized by mitochondrial dysfunctions. Mitochondrial impairment has been hypothesized to have a key role in paramount mechanisms underlying Rett syndrome (RTT), a severe neurologic rare disorder. CNF1 has been already reported to have beneficial effects in mouse models of RTT. Using human RTT fibroblasts from four patients carrying different mutations, as a reliable disease-in-a-dish model, we explored the cellular and molecular mechanisms, which can underlie the CNF1-induced amelioration of RTT deficits. We found that CNF1 treatment modulates the Rho GTPases activity of RTT fibroblasts and induces a considerable re-organization of the actin cytoskeleton, mainly in stress fibres. Mitochondria of RTT fibroblasts show a hyperfused morphology and CNF1 decreases the mitochondrial mass leaving substantially unaltered the mitochondrial dynamic. From a functional perspective, CNF1 induces mitochondrial membrane potential depolarization and activation of AKT in RTT fibroblasts. Given that mitochondrial quality control is altered in RTT, our results are suggestive of a reactivation of the damaged mitochondria removal via mitophagy restoration. These effects can be at the basis of the beneficial effects of CNF1 in RTT.

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6. Daniels N, Moerkerke M, Steyaert J, Bamps A, Debbaut E, Prinsen J, Tang T, Van der Donck S, Boets B, Alaerts K. Effects of multiple-dose intranasal oxytocin administration on social responsiveness in children with autism: a randomized, placebo-controlled trial. Molecular autism. 2023; 14(1): 16.

BACKGROUND: Intranasal administration of oxytocin is increasingly explored as a new approach to facilitate social development and reduce disability associated with a diagnosis of autism spectrum disorder (ASD). The efficacy of multiple-dose oxytocin administration in children with ASD is, however, not well established. METHODS: A double-blind, randomized, placebo-controlled trial with parallel design explored the effects of a 4-week intranasal oxytocin administration (12 IU, twice daily) on parent-rated social responsiveness (Social Responsiveness Scale: SRS-2) in pre-pubertal school-aged children (aged 8-12 years, 61 boys, 16 girls). Secondary outcomes included a questionnaire-based assessment of repetitive behaviors, anxiety, and attachment. Effects of oxytocin were assessed immediately after the administration period and at a follow-up, 4 weeks after the last administration. The double-blind phase was followed by a 4-week single-blind phase during which all participants received intranasal oxytocin. RESULTS: In the double-blind phase, both the oxytocin and placebo group displayed significant pre-to-post-improvements in social responsiveness and secondary questionnaires, but improvements were not specific to the intranasal oxytocin. Notably, in the single-blind phase, participants who were first allocated to intranasal placebo and later changed to intranasal oxytocin displayed a significant improvement in social responsiveness, over and above the placebo-induced improvements noted in the first phase. Participants receiving oxytocin in the first phase also showed a significant further improvement upon receiving a second course of oxytocin, but only at the 4-week follow-up. Further, exploratory moderator analyses indicated that children who received psychosocial trainings (3 or more sessions per month) along with oxytocin administration displayed a more pronounced improvement in social responsiveness. LIMITATIONS: Future studies using larger cohorts and more explicitly controlled concurrent psychosocial trainings are warranted to further explore the preliminary moderator effects, also including understudied populations within the autism spectrum, such as children with co-occurring intellectual disabilities. CONCLUSIONS: Four weeks of oxytocin administration did not induce treatment-specific improvements in social responsiveness in school-aged children with ASD. Future studies are warranted to further explore the clinical efficacy of oxytocin administration paired with targeted psychosocial trainings that stimulate socio-communicative behaviors. Trial registration The trial was registered with the European Clinical Trial Registry (EudraCT 2018-000769-35) on June 7th, 2018 ( https://www.clinicaltrialsregister.eu/ctr-search/trial/2018-000769-35/BE ).

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7. Das S, Zomorrodi R, Mirjalili M, Kirkovski M, Blumberger DM, Rajji TK, Desarkar P. Machine learning approaches for electroencephalography and magnetoencephalography analyses in autism spectrum disorder: A systematic review. Progress in neuro-psychopharmacology & biological psychiatry. 2023; 123: 110705.

There are growing application of machine learning models to study the intricacies of non-linear and non-stationary characteristics of electroencephalography (EEG) and magnetoencephalography (MEG) data in neurobiologically complex and heterogeneous conditions such as autism spectrum disorder (ASD). Such tools have potential diagnostic applications, and given the highly heterogeneous presentation of ASD, might prove fruitful in early detection and therefore could facilitate very early intervention. We conducted a systematic review (PROSPERO ID#CRD42021257438) by searching PubMed, EMBASE, and PsychINFO for machine learning approaches for EEG and MEG analyses in ASD. Thirty-nine studies were identified, of which the majority (18) used support vector machines for classification; other successful methods included deep learning. Thirty-seven studies were found to employ EEG and two were found to employ MEG. This systematic review indicate that machine learning methods can be used to classify ASD, predict ASD diagnosis in high-risk infants as early as 3 months of age, predict ASD symptom severity, and classify states of cognition in ASD with high accuracy. Replication studies testing validity, reproducibility and generalizability in tandem with randomized controlled trials in ASD populations will likely benefit the field.

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8. Dehnavi F, Khan A. Time-Based and Event-Based Prospective Memory in Adults with Autism Spectrum Disorder: A Virtual Week Investigation. Journal of autism and developmental disorders. 2023.

PURPOSE: Autism spectrum disorder (ASD) is a complex developmental condition including persistent challenges with social communication, restricted interests, and repetitive behavior. Though prospective memory failures are commonly observed in ASD population it has been less studied among adults with ASD. Prospective memory (PM) refers to the execution of delayed intentions. There are contradictory findings of regular and irregular prospective memory task among autistic adults. The present study is an attempt to investigate prospective memory performance among adults with autism spectrum disorder using the Virtual Week board game. METHOD: Virtual Week (Rendell & Craik, 2000) (3-day Version) is a computerized board game in which participants after rolling a die move token clockwise around the board. Each round of the board represents one virtual « day. » Adults between 16 and 25 years of age who were diagnosed with ASD (N = 23) were compared with non-ASD (N = 26) adults. RESULTS: Analyses of variance were used to analyze the data. Results revealed that autistic adults as compared to normal adults showed poorer performance on time-based task than on event-based task. A significant difference was evident between regular and irregular prospective memory tasks across both tasks among autistic adults. Results also revealed that ASD difficulties are associated with the prospective component of the irregular task. CONCLUSIONS: Prospective memory failures are widely observed in ASD group, and have important implications for functional independence. The findings of this study provide insight into prospective memory challenges that adults with autism spectrum disorder face in a daily basis.

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9. Goyal T, Kalra N, Tyagi R, Khatri A, Sabherwal P, Yangdol P. Evidence-based analysis of multi-pronged approaches for education and behavior management of autistic patients in a dental setting. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2023.

BACKGROUND: Autism spectrum disorder is a neurodevelopmental condition which has posed a challenge to carers, pediatricians and dentists through the years. Over the last four decades, the disorder has been better understood and management techniques have evolved. In the field of dentistry, the autistic child presents difficulty in management, even for the simplest dental procedures. A comprehensive understanding of other psychoeducational and behavioral approaches to manage autism is very important. This article aims to introduce various important key techniques such as Applied Behavior Analysis, TEACCH, Sensory Adapted Dental Environment, Picture Exchange Communication System, and Animal Assisted Therapy and analyze their application in dentistry. METHODS: A search of literature was carried out in Clinicaltrials.gov, Medline and Scopus with the search terms « Applied Behavior Analysis, » « TEACCH, » « Sensory Adapted Dental Environment, » « Picture Exchange Communication System, » and « Animal Assisted Therapy » along with « autism OR autistic, » « dental OR dentistry OR oral health. » After the screening for inclusion and exclusion criteria, 10 eligible articles were included, in English, published within the last 10 years. RESULTS: Limited research was available regarding these lesser-known behavioral approaches in dentistry. The few that were available showed encouraging results. The different techniques proved useful in increasing acceptance of dental treatment and reducing behavioral disturbances. The patients experienced reduced dental anxiety, lesser discomfort, improved communication, and knowledge. CONCLUSION: Pediatric and special care dentists are likely to benefit by incorporating the recommended comprehensive behavior management techniques in their practice. There is evidence that these techniques will reduce behavioral disturbances in autistic children thereby making primary dental care possible without the need for sedation or general anesthesia.

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10. Hernández Fernández IG, Omaña Covarrubias A, Conde Vega J, Rodríguez Ávila J, Díaz Martínez G, Moya Escalera A, López Pontigo L. [Nutritional status and food intake frequency in children with autism spectrum disorder]. Nutricion hospitalaria. 2023; 40(2): 347-53.

Introduction: children with autism spectrum disorder (ASD) commonly present food hyperselectivity, which could lead to malnutrition. Furthermore, they are usually observed with eutrophic development, and a tendency to overweight or obesity, which might occur because of food preferences. Objectives: to evaluate nutritional status based on anthropometric measurements, and to determine the food intake frequency of Mexican children with ASD. Methods: a cross-sectional study that included 31 children of both sexes, from 5 to 10 years of age, with ASD, recruited for convenience at the Hospital del Niño DIF Hidalgo, Mexico. The variables considered were: weight, height, body mass index, muscle mass, fat mass, and frequency of food consumption. Results: the eutrophic nutritional status had a prevalence of 70.9 %, overweight of 12.9 % and obesity of 12.9 %. According to sex, women had significantly lower BMI and fat mass, but higher muscle mass than men. When comparing by diagnosis, there were no statistical differences. The most commonly consumed foods were tomato, carrot, banana, apple, corn tortilla, wheat flour bread, rice, beans, chicken, egg, whole milk, vegetable oil, gelatin and sweetened beverages. They mostly consumed plain water every day. Conclusions: children with ASD have a eutrophic nutritional status in addition to a significant tendency to overweight and obesity, probably related to a high consumption of sweetened beverages and jelly, as well as a low intake of vegetables. This indicates the need for nutritional surveillance to prevent the development of chronic degenerative diseases.

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11. Kaur H, Chinna K, Sivanesom R. Sleep disturbances and their association with behaviour in children with autism spectrum disorder: A cross-sectional study. Singapore medical journal. 2023.

INTRODUCTION: In this study, we aimed to determine the prevalence of sleep disturbances among children aged 2-5 years with autism spectrum disorder (ASD) and their association with behaviour in these children. METHOD: A cross-sectional study was conducted at Hospital Tunku Azizah, Kuala Lumpur, Malaysia, from June 2020 to December 2020. Children between 2 and 5 years old, diagnosed with ASD based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria, were recruited. Two parent-reported questionnaires, the Children’s Sleep Habits Questionnaire (CSHQ) and the Child Behaviour Checklist (CBCL/1.5-5), were used to assess sleep and behaviour, respectively. Children were classified as good sleepers (CSHQ score <41) and poor sleepers (CSHQ score ≥41). Poor sleepers were further categorised into those with mild or moderate to severe sleep problems (based on the 75(th) percentile CSHQ score). The CBCL/1.5-5 raw scores were converted to standardise T-scores, yielding scores of three summary scales (internalising, externalising and total problems). RESULTS: A total of 134 children participated in this study. Their mean age was 42.23 ± 9.95 months, and 81.3% were males. Mean CSHQ score was 49.77 ± 6.90, and 93.3% were poor sleepers. Internalising, externalising and total problems scores were significantly higher in poor sleepers (62, 59 and 62, respectively) compared to good sleepers (56, 47 and 51, respectively). Children with moderate to severe sleep problems had clinical scores of internalising (median 65) and externalising (median 65) problems, as compared to mild sleep problems (median internalising score 61, median externalising score 57). CONCLUSION: Sleep disturbances are prevalent among children with ASD. Poor sleep quality is associated with more behavioural problems.

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12. Kirkovski M, Singh M, Dhollander T, Fuelscher I, Hyde C, Albein-Urios N, Donaldson PH, Enticott PG. An Investigation of Age-related Neuropathophysiology in Autism Spectrum Disorder Using Fixel-based Analysis of Corpus Callosum White Matter Micro- and Macrostructure. Journal of autism and developmental disorders. 2023.

Fixel-based analysis was used to probe age-related changes in white matter micro- and macrostructure of the corpus callosum between participants with (N = 54) and without (N = 50) autism spectrum disorder (ASD). Data were obtained from the Autism Brain Imaging Data Exchange-II (ABIDE-II). Compared to age-matched controls, young adolescents with ASD (11.19 ± 7.54 years) showed reduced macroscopic fiber cross-section (logFC) and combined fiber-density and cross-section (FDC). Reduced fiber-density (FD) and FDC was noted in a marginally older (13.87 ± 3.15 years) ASD cohort. Among the oldest ASD cohort (17.07 ± 3.56 years), a non-significant trend indicative of reduced FD was noted. White matter aberration appears greatest and most widespread among younger ASD cohorts. This supports the suggestion that some early neuropathophysiological indicators in ASD may dissipate with age.

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13. Ling W, Zhao G, Wang W, Wang C, Zhang L, Zhang H, Lu D, Ruan S, Zhang A, Liu Q, Jiang J, Jiang G. Metallomic profiling and natural copper isotopic signatures of childhood autism in serum and red blood cells. Chemosphere. 2023: 138700.

Excessive exposure to metals directly threatens human health, including neurodeve lopment. Autism spectrum disorder (ASD) is a neurodevelopmental disorder, leaving great harms to children themselves, their families, and even society. In view of this, it is critical to develop reliable biomarkers for ASD in early childhood. Here we used inductively coupled plasma mass spectrometry (ICP-MS) to identify the abnormalities in ASD-associated metal elements in children blood. Multi-collector inductively coupled plasma mass spectrometry (MC-ICP-MS) was applied to detect isotopic differences in copper (Cu) for further assessment on account of its core role in the brain. We also developed a machine learning classification method for unknown samples based on a support vector machine (SVM) algorithm. The results indicated significant differences in the blood metallome (chromium (Cr), manganese (Mn), cobalt (Co), magnesium (Mg), and arsenic (As)) between cases and controls, and a significantly lower Zn/Cu ratio was observed in the ASD cases. Interestingly, we found a strong association of serum copper isotopic composition (δ(65)Cu) with autistic serum. SVM was successfully applied to discriminate cases and controls based on the two-dimensional Cu signatures (Cu concentration and δ(65)Cu) with a high accuracy (94.4%). Overall, our findings revealed a new biomarker for potential early diagnosis and screening of ASD, and the significant alterations in the blood metallome also helped to understand the potential pathogenesis of ASD in terms of metallomics.

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14. Macinska S, Lindsay S, Jellema T. Visual Attention to Dynamic Emotional Faces in Adults on the Autism Spectrum. Journal of autism and developmental disorders. 2023.

Using eye-tracking, we studied allocation of attention to faces where the emotional expression and eye-gaze dynamically changed in an ecologically-valid manner. We tested typically-developed (TD) adults low or high in autistic-like traits (Experiment 1), and adults with high-functioning autism (HFA; Experiment 2). All groups fixated more on the eyes than on any of the other facial area, regardless of emotion and gaze direction, though the HFA group fixated less on the eyes and more on the nose than TD controls. The sequence of dynamic facial changes affected the groups similarly, with reduced attention to the eyes and increased attention to the mouth. The results suggest that dynamic emotional face scanning patterns are stereotypical and differ only modestly between TD and HFA adults.

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15. Mirzavandi F, Sabet N, Aminzadeh A, Heidari M, Pouya F, Moslemizadeh A, Parizi AS, Bashiri H. Effects of varied‑intensity endurance exercise training on oxidative and antioxidant factors in the liver of rats with valproic acid‑induced autism. Acta neurobiologiae experimentalis. 2023; 83(1): 25-33.

Autism spectrum disorders are complex behavioral disorders that can be caused by exposure to valproic acid (VPA) during pregnancy. A therapeutic role for exercise training has been reported in many neurological diseases and problems, including autism. We aimed to evaluate various intensities of endurance exercise training and investigate its effects on oxidative and antioxidant factors in the liver of young males in a rat model of autism. Female rats were divided into a treatment (autism) and a control group. The autism group received VPA intraperitoneally on day 12.5 of pregnancy and the control pregnant females received saline. On the 30th day post‑birth, a social interaction test was performed on the offspring to confirm autistic‑like behavior. Offspring were divided into three subgroups: no exercise, mild exercise training, and moderate exercise training. Then the oxidative index of malondialdehyde (MDA) and the antioxidant indices of superoxide dismutase (SOD), total antioxidant capacity (TAC), and catalase in liver tissue were examined. The results of this study showed that both indices of sociability and social novelty decreased in the autism group. MDA levels in the liver of the autistic group increased, and moderate exercise training was shown to reduce the levels. Catalase and SOD activity as well as TAC levels decreased in the autism group, and moderate‑intensity exercise training was shown to increase the values. Parameters of hepatic oxidative stress were altered in VPA‑induced autism, and moderate‑intensity endurance exercise training was demonstrated to have beneficial effects on hepatic oxidative stress factors by modul ating the antioxidant/oxidant ratio.

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16. Myhren L, Pawlowski A, Schwob A, Bull VH. Development and evaluation of an individualised dental habituation programme for children with autism spectrum disorder living in Rogaland, Norway. European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry. 2023.

PURPOSE: To develop and evaluate an individualised habituation programme for children with autism spectrum disorder (ASD) to enhance their cooperation during a routine dental examination. METHODS: In collaboration with school personnel, we developed and evaluated a research-based habituation programme comprising a toolbox with aids (pictures, videos, appliances, social stories) for preparations and gradual exposure to a 10-step dental examination. The habituation programme was subjected to a small-scale evaluation involving 17 children with ASD living in Rogaland, Norway. Changes in cooperation were registered using Frankl behaviour rating scale. Further, school personnel were interviewed using semi-structured interviews, and the data obtained were analysed through content analysis. RESULTS: Fourteen children (82%) completed the dental examination. Compared to previous accomplishments reported by the caregivers, an increased number of children completed the examination with a mirror and probe and were able to take an X-ray with good compliance following the habituation programme. The registration of cooperation (Frankl score) during each session indicated varying progression rates. Further, changing the dentist did not influence compliance, and most children showed a similar level of cooperation towards the dental examination one year later. Further, school personnel highlighted the need for preparations that could facilitate control and the importance of catering to individual needs. CONCLUSION: An individualised approach combining preparations and behavioural methods in close collaboration with school personnel can increase cooperation during a dental examination in children with ASD.

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17. Nogueira HA, de Castro CT, da Silva DCG, Pereira M. Melatonin for sleep disorders in people with autism: Systematic review and meta-analysis. Progress in neuro-psychopharmacology & biological psychiatry. 2023; 123: 110695.

Melatonin is a potential therapeutic intervention for improving sleep quality in people with autistic spectrum disorder (ASD). We investigate the effect of using melatonin as a sleep disorder treatment in people with ASD. Interventionist studies were searched in seven databases. A total of 595 references were identified, 15 of which were eligible for the systemic review and meta-analysis. Melatonin use presented a positive effect on total sleep time (standardized mean difference- SMD = 0.78; 95%CI = 0.35; 1.21; I(2) = 91%), on sleep latency (SMD = 1.23; 95%CI = 0.35; 2.11; I(2) = 94%), and on sleep efficiency (SMD = -0.70; 95%CI = -1.23; -0.16; I(2) = 91%) when comparing the intervention group with the placebo/control group via the global analysis. According to the global analysis, the wake after sleep onset and night awakening parameters were not statistically significant. Melatonin has possible efficacy over total time, latency, and efficiency sleep parameters.

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18. Selick A, Durbin J, Hamdani Y, Rayner J, Lunsky Y. « Can you hear me now? »: a qualitative exploration of communication quality in virtual primary care encounters for patients with intellectual and developmental disabilities. BMC primary care. 2023; 24(1): 105.

BACKGROUND: High quality communication is central to effective primary care. The COVID-19 pandemic led to a dramatic increase in virtual care but little is known about how this may affect communication quality. Adults with intellectual and developmental disabilities (IDD) can experience challenges communicating or communicate in non-traditional ways. This study explored how the use of virtual modalities, including telephone and video, affects communication in primary care interactions for patients with IDD. METHODS: This qualitative descriptive study included semi-structured interviews with a multi-stakeholder sample of 38 participants, including 11 adults with IDD, 13 family caregivers, 5 IDD support staff and 9 primary care physicians. Interviews were conducted in Ontario, Canada between March and November 2021 by video-conference or telephone. A mixed inductive and deductive thematic analysis approach was used to code the data and identify themes. Themes were reviewed and refined with members of each stakeholder group. RESULTS: Four elements of communication were identified that were affected by virtual care: (1) patient engagement in the virtual appointment; (2) the ability to hear other participants and have the time and space to be heard; (3) the ability to use nonverbal communication strategies; and (4) the ability to form trusting relationships. In some cases, the virtual platform hindered these elements of communication. Video offered some advantages over telephone to support nonverbal communication, and stimulate engagement; though this could be limited by technical challenges. For adults with IDD who find it difficult to attend in-person appointments, virtual care improved communication quality by allowing them to participate from a space where they were comfortable. CONCLUSION: Though there are circumstances in which virtual delivery can improve communication for patients with IDD, there are also challenges to achieving high quality patient-provider communication over telephone and video. Improved infrastructure and training for providers, patients and caregivers can help improve communication quality, though in some cases it may never be appropriate. A flexible patient-centred approach is needed that includes in-person, telephone and video options for care.

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19. Vakilzadeh G, Martinez-Cerdeño V. Pathology and Astrocytes in Autism. Neuropsychiatric disease and treatment. 2023; 19: 841-50.

A distinct pathology for autism spectrum disorder (ASD) remains elusive. Human and animal studies have focused on investigating the role of neurons in ASD. However, recent studies have hinted that glial cell pathology could be a characteristic of ASD. Astrocytes are the most abundant glial cell in the brain and play an important role in neuronal function, both during development and in adult. They regulate neuronal migration, dendritic and spine development, and control the concentration of neurotransmitters at the synaptic cleft. They are also responsible for synaptogenesis, synaptic development, and synaptic function. Therefore, any change in astrocyte number and/or function could contribute to the impairment of connectivity that has been reported in ASD. Data available to date is scarce but indicates that while the number of astrocytes is reduced, their state of activation and their GFAP expression is increased in ASD. Disruption of astrocyte function in ASD may affect proper neurotransmitter metabolism, synaptogenesis, and the state of brain inflammation. Astrocytes alterations are common to ASD and other neurodevelopmental disorders. Future studies about the role of astrocytes in ASD are required to better understand this disorder.

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20. Wang M, Xian P, Zheng W, Li Z, Chen A, Xiao H, Xu C, Wang F, Mao H, Meng H, Zhao Y, Luo C, Wang Y, Wu S. Axin2 coupled excessive Wnt-glycolysis signaling mediates social defect in autism spectrum disorders. EMBO molecular medicine. 2023: e17101.

Social dysfunction is the core syndrome of autism spectrum disorder (ASD) and lacks effective medicine. Although numerous risk genes and relevant environmental factors have been identified, the convergent molecular mechanism underlying ASD-associated social dysfunction remains largely elusive. Here, we report aberrant activation of canonical Wnt signaling and increased glycolysis in the anterior cingulate cortex (ACC, a key brain region of social function) of two ASD mouse models (Shank3(-/-) and valproic acid-treated mice) and their corresponding human neurons. Overexpressing β-catenin in the ACC of wild-type mice induces both glycolysis and social deficits. Suppressing glycolysis in ASD mice partially rescued synaptic and social phenotype. Axin2, a key inhibitory molecule in Wnt signaling, interacts with the glycolytic enzyme enolase 1 (ENO1) in ASD neurons. Surprisingly, an Axin2 stabilizer, XAV939, effectively blocked Axin2/ENO1 interaction, switched glycolysis/oxidative phosphorylation balance, promoted synaptic maturation, and rescued social function. These data revealed excessive neuronal Wnt-glycolysis signaling as an important underlying mechanism for ASD synaptic deficiency, indicating Axin2 as a potential therapeutic target for social dysfunction.

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21. Wen Y, Wang J, Zhang Q, Yang X, Wei L, Bao X. MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males. BMC medicine. 2023; 21(1): 155.

BACKGROUND: Germline mosaicisms could be inherited to offspring, which considered as « de novo » in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously. For further study, we focused on MECP2 germline mosaicism in males, not only RTT fathers. METHODS: Thirty-two fathers of RTT girls with MECP2 pathogenic mutations and twenty-five healthy adult males without history and family history of RTT or other genetic disorders were recruited. Sperm samples were collected and ten MECP2 hotspot mutations were detected by micro-droplet digital PCR (mDDPCR). And routine semen test was performed at the same time if the sample was sufficient. Additionally, blood samples were also detected for those with sperm MECP2 mosaicisms. RESULTS: Nine fathers with RTT daughters (28.1%, 9/32) were found to have MECP2 mosaicism in their sperm samples, with the mutant allele fractions (MAFs) ranging from 0.05% to 7.55%. Only one father with MECP2 c.806delG germline mosaicism (MAF 7.55%) was found to have mosaicism in the blood sample, with the MAF was 0.28%. In the group of healthy adult males, MECP2 mosaicism was found in 7 sperm samples (28.0%, 7/25), with the MAFs ranging from 0.05% to 0.18%. None of the healthy adult males with MECP2 germline mosaicisms were found with MECP2 mosaicism in blood samples. There were no statistical differences in age, or the incidence of asthenospermia between fathers with RTT daughters and healthy adult males with MECP2 germline mosaicisms. Additionally, there was no linear correlation between MAFs of MECP2 mosaicisms and the age of males with germline MECP2 mosaicisms. CONCLUSIONS: Germline MECP2 mosaicism could be found not only in fathers with RTT daughters but also in healthy adult males without family history of RTT. As germline mosaic mutations may be passed on to offspring which commonly known as « de novo », more attention should be paid to germline mosaicism, especially in families with a proband diagnosed with genetic disorders.

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22. Xia C, Zhang D, Li K, Li H, Chen J, Min W, Han J. Dynamic Viewing Pattern Analysis: Towards Large-Scale Screening of Children With ASD in Remote Areas. IEEE transactions on bio-medical engineering. 2023; 70(5): 1622-33.

OBJECTIVE: Autism spectrum disorder (ASD) affects nearly 1 in 44 children younger than 8 years old in the United States, and the situation may be even worse in remote areas of the world. However, it is difficult to utilize existing approaches to screen patients with ASD in remote areas due to the lack of professionals and high-tech instruments. Therefore, we develop a fast and accurate scalable method for screening children with ASD. METHODS: A deep weakly supervised artificial intelligence model is proposed for ASD screening based on the dynamic viewing patterns (DVP) over viewing time and visual stimuli. In training, we utilized a long short-term memory (LSTM) network to learn the mapping between the autoencoder-based encoded dynamic patterns and the labels. In testing, we fed the encoded DVP of each undiagnosed child into the trained network and predicted the diagnosis category based on the score on all stimuli. RESULTS: Based on the multi-center evaluation on 165 subjects (95 typically developing children and 70 children with ASD) aged 3-6 years from different areas of China, our method achieves an average recognition accuracy of 96.73% (sensitivity 96.85% and specificity 96.63%). CONCLUSION: The DVP is a discriminating attribute to identify the atypical performance of ASD. The DVP-based model is an effective platform for enhancing auxiliary ASD screening accuracy. SIGNIFICANCE: We validated the importance of dynamic information on between-group differences and classification. Additionally, the evaluation results suggest that the proposed model can provide an objective and accessible tool for scalable ASD screening applications.

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23. Yap CX, Henders AK, Alvares GA, Giles C, Huynh K, Nguyen A, Wallace L, McLaren T, Yang Y, Hernandez LM, Gandal MJ, Hansell NK, Cleary D, Grove R, Hafekost C, Harun A, Holdsworth H, Jellett R, Khan F, Lawson LP, Leslie J, Levis Frenk M, Masi A, Mathew NE, Muniandy M, Nothard M, Miller JL, Nunn L, Strike LT, Cadby G, Moses EK, de Zubicaray GI, Thompson PM, McMahon KL, Wright MJ, Visscher PM, Dawson PA, Dissanayake C, Eapen V, Heussler HS, Whitehouse AJO, Meikle PJ, Wray NR, Gratten J. Interactions between the lipidome and genetic and environmental factors in autism. Nature medicine. 2023; 29(4): 936-49.

Autism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome (783 lipid species) in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank. We identified lipids associated with ASD diagnosis (n = 8), sleep disturbances (n = 20) and cognitive function (n = 8) and found that long-chain polyunsaturated fatty acids may causally contribute to sleep disturbances mediated by the FADS gene cluster. We explored the interplay of environmental factors with neurodevelopment and the lipidome, finding that sleep disturbances and unhealthy diet have a convergent lipidome profile (with potential mediation by the microbiome) that is also independently associated with poorer adaptive function. In contrast, ASD lipidome differences were accounted for by dietary differences and sleep disturbances. We identified a large chr19p13.2 copy number variant genetic deletion spanning the LDLR gene and two high-confidence ASD genes (ELAVL3 and SMARCA4) in one child with an ASD diagnosis and widespread low-density lipoprotein-related lipidome derangements. Lipidomics captures the complexity of neurodevelopment, as well as the biological effects of conditions that commonly affect quality of life among autistic people.

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24. Yuruki K, Inoue M. Stress and benefits of video calling for people with autism spectrum disorders. PloS one. 2023; 18(4): e0283526.

This study compared stress and the benefits of video calling between individuals with autism spectrum disorder (ASD) proneness and diagnosis and those with typical developmental (TD). Study participants were recruited via the web, and 151 of the 252 participants who responded to a web-based questionnaire were included in the analysis (ASD group:76; TD group:75). The results of the chi-square test suggest that the ASD group may prefer video calling more than the TD group. The results of the analysis using a qualitative methodology (KJ method) suggested that the ASD group was more likely than the TD group to perceive stress due to light stimuli emitted from the screen and the inability to concentrate on a conversation due to visual stimuli. The ASD group perceived the ability to cope with stressful stimuli by operating the device as an benefits of video calling. These findings suggest the importance of creating a communication environment that reduces stress and maximizes the benefits of video calling for people with ASD. Specific support measures include establishing rules in advance that allow the individual to turn the video off or switch to texting.

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