1. Chanin M, Etcheverry N, Levi-Minzi MA, Chung J, Padilla O, Ocanto RA. Parent Perception of Child’s Behavior during the Initial Dental Visit among Children with Autism Spectrum Disorder: A Cross Sectional Study. International journal of environmental research and public health. 2023; 20(3).

(1) Background: The purpose of this study was to evaluate parent perception of behavior and level of cooperation to determine the success of a dental appointment with a child with autism spectrum disorder (ASD). (2) Methods: pre-treatment form, task analysis (TAS), and Frankl scale scores were extracted from patient charts. Values were calculated for patient demographics and other health characteristics (N = 235). Regression models were constructed to examine the success level during the first dental appointment (measured by TAS and Frankl scores) by several factors. (3) Results: The model to test patient characteristics: age, gender, ethnicity, and verbal communication, Hispanic ethnicity significantly predicted the TAS score, F (4, 191) = 2.45, p = 0.03 [95% CI -17.18, -3.53], and age significantly predicted the Frankl score, F (4, 194) = 5.17, p = 0.00 [95% CI 0.04, 0.12]. There was a significant association between parent perception of behavior and Frankl scores, F (2, 202) = 7.68, p = 0.00 [ 95% CI -0.11, -0.02]. (4) Conclusion: The results indicate that ethnicity and age play a role in successful outcomes during the dental appointment. Additionally, parent perception of their child’s behavior significantly predicted the Frankl score, thus coordinating with parents during the dental appointment can be a key factor in treatment planning for productive dental visits.

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2. Curtin P, Neufeld J, Curtin A, Austin C, Isaksson J, Remnelius KL, Norrman HN, Arora M, Bölte S. Associations between Elemental Metabolic Dynamics and Default Mode Network Functional Connectivity Are Altered in Autism. Journal of clinical medicine. 2023; 12(3).

Autism is a neurodevelopmental condition associated with atypical social communication, cognitive, and sensory faculties. Recent advances in exposure biology suggest that biomarkers of elemental uptake and metabolism measured in hair samples can yield an effective signal predictive of autism diagnosis. Here, we investigated if elemental biomarkers in hair were associated with functional connectivity in regions of the default mode network (DMN) previously linked to autism. In a study sample which included twin pairs with concordant and discordant diagnoses for autism, our analysis of hair samples and neuroimaging data supported two general findings. First, independent of autism diagnosis, we found a broad pattern of association between elemental biomarkers and functional connectivity in the DMN, which primarily involved dynamics in zinc metabolism. Second, we found that associations between the DMN and elemental biomarkers, particularly involving phosphorus, calcium, manganese, and magnesium, differed significantly in autistic participants from control participants. In sum, these findings suggest that functional dynamics in elemental metabolism relate broadly to persistent patterns of functional connectivity in the DMN, and that these associations are altered in the emergence of autism.

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3. Davies C, Moosa M, McKenna K, Mittal J, Memis I, Mittal R, Eshraghi AA. Quality of Life, Neurosensory Disorders and Co-Occurring Medical Conditions in Individuals on the Spectrum, with a Special Focus on Females Diagnosed with Autism: A Systematic Review. Journal of clinical medicine. 2023; 12(3).

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that has a high prevalence and a significant economic impact. Our knowledge regarding neurosensory disorders and co-occurring medical conditions in the ASD population is limited, particularly for autistic women. Most of the studies include male participants or do not make comparisons with their female counterparts. The objective of this systematic review article is to explore the quality of life as well as the prevalence of neurosensory disorders and co-occurring medical conditions in individuals on the spectrum, with a special focus on autistic females. The literature search was carried out in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria. A protocol of this systematic review was designed a priori and was registered in the PROSPERO database (registration number: CRD42022330368). We concluded that numerous medical areas were of concern. Autistic females are more likely than their male counterparts with ASD to suffer from psychiatric conditions such as post-traumatic stress syndrome, depression, and eating disorders. They are also more likely to report GI-related disturbances and chronic pain. Further investigations are warranted to determine quality of life, as well as the prevalence and severity of neurosensory disorders in individuals with ASD, specifically studies comparing autistic females with their male counterparts. The information derived from these studies will help develop better support systems for individuals with autism, particularly females on the spectrum, in pursuit of improving their quality of life.

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4. Fu W, Li R, Zhang Y, Huang K. Parenting Stress and Parenting Efficacy of Parents Having Children with Disabilities in China: The Role of Social Support. International journal of environmental research and public health. 2023; 20(3).

Raising children with disabilities is challenging for parents, who experience high parenting stress. The study aimed to understand the status quo of parenting efficacy of parents having children with disabilities and to analyze the association between parent efficacy, parenting stress, and social support in China. We surveyed 373 parents having children with disabilities enrolled in special education schools or rehabilitation institutions from 14 provinces in China. The online questionnaire including Parental Stress Index-Short Form, the Child Adjustment and Parent Efficacy Scale-Developmental Disability (CAPES-DD), and Social Support Scale was applied in the study. The results suggested that parenting efficacy of parents having children with disabilities in China was at the medium level. Parenting stress, social support, and parenting efficacy were significantly related with each other, and social support played a mediating role between parenting stress and parenting efficacy. The findings indicated that reducing parenting stress and improving social support might improve parenting efficacy. We also discussed the implications of providing intervention strategies or social support to improve parenting efficacy for parents with disabled children in China.

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5. Gao X, Su X, Han X, Wen H, Cheng C, Zhang S, Li W, Cai J, Zheng L, Ma J, Liao M, Ni W, Liu T, Liu D, Ma W, Han S, Zhu S, Ye Y, Zeng FF. Unsaturated Fatty Acids in Mental Disorders: An Umbrella Review of Meta-Analyses. Advances in nutrition (Bethesda, Md). 2022; 13(6): 2217-36.

Unsaturated fatty acids might be involved in the prevention of and improvement in mental disorders, but the evidence on these associations has not been comprehensively assessed. This umbrella review aimed to appraise the credibility of published evidence evaluating the associations between unsaturated fatty acids and mental disorders. In this umbrella review, systematic reviews and meta-analyses of studies comparing unsaturated fatty acids (including supplementation, dietary intake, and blood concentrations) in participants with mental disorders with healthy individuals were included. We reanalyzed summary estimates, between-study heterogeneity, predictive intervals, publication bias, small-study effects, and excess significance bias for each meta-analysis. Ninety-five meta-analyses from 29 systematic reviews were included, encompassing 43 studies on supplementation interventions, 32 studies on dietary factors, and 20 studies on blood biomarkers. Suggestive evidence was only observed for dietary intake, in which higher intake of fish was associated with reduced risk of depression (RR: 0.78; 95% CI: 0.69, 0.89) and Alzheimer disease (RR: 0.74; 95% CI: 0.63, 0.87), and higher intake of total PUFAs might be associated with a lower risk of mild cognitive impairment (RR: 0.71; 95% CI: 0.61, 0.84). Evidence showed that PUFA supplementation was favorable but had weak credibility in anxiety, depression, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), dementia, mild cognitive impairment, Huntington’s disease, and schizophrenia (P-random effects <0.001-0.040). There was also weak evidence on the effect of decreased circulating n-3 (ɷ-3) PUFAs among patients on risk of ADHD, ASD, bipolar disorder, and schizophrenia (P-random effects <10(-6)-0.037). Our results suggest that higher levels of unsaturated fatty acids may relieve symptoms or reduce the risk of various mental disorders; however, the strength of the associations and credibility of the evidence were generally weak. Future high-quality research is needed to identify whether PUFA interventions should be prioritized to alleviate mental disorders.

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6. Grzejszczak J, Gabryelska A, Gmitrowicz A, Strzelecki D. How to Make the Unpredictable Foreseeable? Effective Forms of Assistance for Children with Autism Spectrum Disorder (ASD) during the COVID-19 Pandemic. Diagnostics (Basel, Switzerland). 2023; 13(3).

Symptomatology in patients with the diagnosis of autism spectrum disorder (ASD) is very heterogeneous. The symptoms they present include communication difficulties, behavior problems, upbringing problems from their parents, and comorbidities (e.g., epilepsy, intellectual disability). A predictable and stable environment and the continuity of therapeutic interactions are crucial in this population. The COVID-19 pandemic has created much concern, and the need for home isolation to limit the spread of the virus has disrupted the functioning routine of children/adolescents with ASD. Are there effective diagnostic and therapeutic alternatives to limit the consequences of disturbing the daily routine of young patients during the unpredictable times of the pandemic? Modern technology and telemedicine have come to the rescue. This narrative review aims to present a change in the impact profile in the era of isolation and assess the directions of changes that specialists may choose when dealing with patients with ASD.

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7. Hodkinson R, Phillips H, Allgar V, Young A, Le Couteur A, Holwell A, Teige C, Wright B. Comparison of Diagnostic Profiles of Deaf and Hearing Children with a Diagnosis of Autism. International journal of environmental research and public health. 2023; 20(3).

There is limited research comparing the presentation of autism in deaf and hearing children and young people. These comparisons are important to facilitate accurate diagnosis, as rates of misdiagnosis and delay in diagnosis amongst deaf children and young people are high. The aim of this study was to compare diagnostic assessment profiles of a UK cohort of autistic deaf and hearing children and young people. The Autism Diagnostic Interview-Revised-Deaf adaptation was completed with the parents of 106 children and young people (deaf children = 65; hearing children = 41). The majority of items explored showed no significant differences between deaf and hearing children and young people. Differences were found in peer relationships, where autistic deaf participants were less likely to respond to the approaches of other children or play imaginatively with peers. These findings need to be taken into consideration by clinicians in the assessment process.

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8. Ju Y, Kang S, Chung JW, Ryu JK. Pre-Attentional Effects on Global Precedence Processing in Children with Autism Spectrum Disorder and Those with Typical Development on a Tablet-Based Modified Navon’s Paradigm Task. Healthcare (Basel, Switzerland). 2023; 11(3).

This study aimed to characterize the pre-attentional effects on global precedence processing in children with autism spectrum disorder (ASD) and those with typical development (TD). A sample of 17 participants, comprising eight children with ASD and nine TD children, were recruited for the study. A tablet-based assessment utilizing a global and local visual processing paradigm task was developed to investigate the participant’s abilities. The task consisted of verbal instructions to locate and touch either a global or local figure, presented in five conditions: neutral, congruent, and incongruent. The percentage of correct answers and reaction time (RT) for each task were measured and analyzed statistically. Results revealed that children with ASD exhibited statistically significant differences in both the percentage of correct scores and RT among various conditions, while TD children displayed differences in RT but not in the percentage of correct answers. These findings suggest that conflicting processes affect both behavioral and cognitive processes in children with ASD, and that cognitive effort is still involved for children with TD, but does not affect behavioral processes. In children with ASD, the RT was the shortest in the congruent (report local figure) condition; in children with TD, the RT was the shortest in the congruent (report global figure) condition. This implies that children with TD exhibit a pre-attentive effect on global precedence processing, while children with ASD do not. These visual-processing-function characteristics may aid in screening for visual perception problems in children with ASD.

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9. Kittana M, Ahmadani A, Williams KE, Attlee A. Nutritional Status and Feeding Behavior of Children with Autism Spectrum Disorder in the Middle East and North Africa Region: A Systematic Review. Nutrients. 2023; 15(3).

Autism spectrum disorder (ASD) in children is associated with increased risks of overweight/obesity and underweight, altered nutrient profile, and abnormal feeding behaviors. This systematic review aimed to elucidate the literature on the nutritional status of children with ASD in the Middle East North Africa (MENA) region, by providing a summary and assessment of the body of evidence. A systematic review of English and Arabic publications up to November 2020 was conducted of five databases in addition to the grey literature, which include a nutrition-related parameter, from both experimental and observational study designs. Children with ASD (ASD-C) between 2 and 19 years in the MENA Region were the target population. For risk of bias, the Academy of Nutrition and Dietetics’ Quality Criteria Checklist (QCC) was adopted. The number of published articles was grossly limited. Forty-three articles were included, of which only four articles reported a low risk of bias; therefore, the results were interpreted in light of methodological limitations. Both overweight and underweight were common in ASD-C, although not consistently different than typically developing children. Nutrient inadequacies of energy, protein, omega-3, and others; deficiencies in serum iron indicators and calcium, as well as vitamins B12, B9, and D levels; and higher levels of homocysteine and omega-6/omega-3 ratios were reported. Feeding behavior problems were also common in ASD-C. Understanding nutritional requirements and food preferences can guide the planning of the appropriate comprehensive interventions for ASD-C. Various nutritional and behavioral concerns were identified in the included studies; however, they were subject to methodological weaknesses, which limited the generalizability of these results. Future research is warranted that must be directed to finding strong evidence using robust study designs on nutritional status and feeding behaviors of ASD-C, with a particular emphasis on the MENA Region.

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10. Lampiasi N, Bonaventura R, Deidda I, Zito F, Russo R. Inflammation and the Potential Implication of Macrophage-Microglia Polarization in Human ASD: An Overview. International journal of molecular sciences. 2023; 24(3).

Autism spectrum disorder (ASD) is a heterogeneous collection of neurodevelopmental disorders, difficult to diagnose and currently lacking treatment options. The possibility of finding reliable biomarkers useful for early identification would offer the opportunity to intervene with treatment strategies to improve the life quality of ASD patients. To date, there are many recognized risk factors for the development of ASD, both genetic and non-genetic. Although genetic and epigenetic factors may play a critical role, the extent of their contribution to ASD risk is still under study. On the other hand, non-genetic risk factors include pollution, nutrition, infection, psychological states, and lifestyle, all together known as the exposome, which impacts the mother’s and fetus’s life, especially during pregnancy. Pathogenic and non-pathogenic maternal immune activation (MIA) and autoimmune diseases can cause various alterations in the fetal environment, also contributing to the etiology of ASD in offspring. Activation of monocytes, macrophages, mast cells and microglia and high production of pro-inflammatory cytokines are indeed the cause of neuroinflammation, and the latter is involved in ASD’s onset and development. In this review, we focused on non-genetic risk factors, especially on the connection between inflammation, macrophage polarization and ASD syndrome, MIA, and the involvement of microglia.

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11. Li M, Usui N, Shimada S. Prenatal Sex Hormone Exposure Is Associated with the Development of Autism Spectrum Disorder. International journal of molecular sciences. 2023; 24(3).

Sexual differentiation is a major developmental process. Sex differences resulting from sexual differentiation have attracted the attention of researchers. Unraveling what contributes to and underlies sex differences will provide valuable insights into the development of neurodevelopmental disorders that exhibit sex biases. Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects an individual’s social interaction and communication abilities, and its male preponderance has been consistently reported in clinical studies. The etiology of male preponderance remains unclear, but progress has been made in studying prenatal sex hormone exposure. The present review examined studies that focused on the association between prenatal testosterone exposure and ASD development, as well as sex-specific behaviors in individuals with ASD. This review also included studies on maternal immune activation-induced developmental abnormalities that also showed striking sex differences in offspring and discussed its possible interacting roles in ASD so as to present a potential approach for future studies on sex biases in ASD.

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12. Lotan M, Icht M. Diagnosing Pain in Individuals with Intellectual and Developmental Disabilities: Current State and Novel Technological Solutions. Diagnostics (Basel, Switzerland). 2023; 13(3).

Pain assessment poses a challenge in several groups of clients, yet specific barriers arise when it comes to pain assessment of individuals with intellectual and developmental disabilities (IDD), due mostly to communication challenges preventing valid and reliable self-reports. Despite increased interest in pain assessment of those diagnosed with IDD within recent years, little is known about pain behavior in this group. The present article overviews the current state of pain diagnosis for individuals with IDD, focusing on existing pain assessment scales. In addition, it suggests technological developments offering new ways to diagnose existence of pain in this population, such as a Smartphone App for caregivers based on unique acoustic characteristics of pain-related vocal responses, or the use of smart wearable shirts that enable continuous surveillance of vital physiological signs. Such novel technological solutions may improve diagnosis of pain in the IDD population, as well as in other individuals with complex communication needs, to provide better pain treatment and enhance overall quality of life.

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13. Ma Z, Xu L, Li Q, Li X, Shi Y, Zhang X, Yang Y, Wang J, Fan L, Wu L. Prediction Model for Sensory Perception Abnormality in Autism Spectrum Disorder. International journal of molecular sciences. 2023; 24(3).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by heterogeneous clinical phenotypes. Patients often experience abnormal sensory perception, which may further affect the ASD core phenotype, significantly and adversely affecting their quality of life. However, biomarkers for the diagnosis of ASD sensory perception abnormality are currently elusive. We sought to identify potential biomarkers related to ASD sensory perception abnormality to construct a prediction model that could facilitate the early identification of and screening for ASD. Differentially expressed genes in ASD were obtained from the Gene Expression Omnibus database and were screened for genes related to sensory perception abnormality. After enrichment analysis, the random forest method was used to identify disease-characteristic genes. A prediction model was constructed with an artificial neural network. Finally, the results were validated using data from the dorsal root ganglion, cerebral cortex, and striatum of the BTBR T+ Itpr3tf/J (BTBR) ASD mouse model. A total of 1869 differentially expressed genes in ASD were screened, among which 16 genes related to sensory perception abnormality were identified. According to enrichment analysis, these 16 genes were mainly related to actin, cholesterol metabolism, and tight junctions. Using random forest, 15 disease-characteristic genes were screened for model construction. The area under the curve of the training set validation result was 0.999, and for the model function validation, the result was 0.711, indicating high accuracy. The validation of BTBR mice confirmed the reliability of using these disease-characteristic genes for prediction of ASD. In conclusion, we developed a highly accurate model for predicting ASD sensory perception abnormality from 15 disease-characteristic genes. This model provides a new method for the early identification and diagnosis of ASD sensory perception abnormality.

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14. Magner M, Thorová K, Župová V, Houška M, Švandová I, Novotná P, Tříska J, Vrchotová N, Soural I, Jílek L. Sulforaphane Treatment in Children with Autism: A Prospective Randomized Double-Blind Study. Nutrients. 2023; 15(3).

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder with repetitive behaviour which affects interaction and communication. Sulforaphane (SFN), an isothiocyanate abundant in the seeds and sprouts of cruciferous vegetables, has been shown to be effective in alleviating autistic behaviour. We performed a prospective double-blind placebo-controlled study to examine the possible effect of SFN in a paediatric cohort aged three to seven years based on measurements of the Autism Diagnostic Observation Schedule-2 (ADOS-2), the Social Responsiveness Scale-2 (SRS-2), and the Aberrant Behaviour Checklist (ABC). The study consisted of three visits over the duration of 36 weeks (baseline, 18 weeks, and 36 weeks). Twenty-eight of the 40 randomized children completed the study. The mean total raw scores on ABC and SRS-2 improved in both groups, but none of the changes reached statistical significance (ABC: 0 weeks p = 0.2742, 18 weeks p = 0.4352, and 36 weeks 0.576; SRS-2: 0 weeks p = 0.5235, 18 weeks p = 0.9176, and 36 weeks 0.7435). Changes in the assessment of the ADOS-2 subscale scores also did not differ between the two study cohorts (ADOS-2: 0 weeks p = 0.8782, 18 weeks p = 0.4788, and 36 weeks 0.9414). We found no significant clinical improvement in the behavioural outcome measures evaluated in children with ASD aged 3-7 years that were treated with sulforaphane.

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15. Meadan H, Sands MM, Chung MY. Parent-Implemented Telepractice Autism Intervention: A Case Study of Maintenance and Generalization. International journal of environmental research and public health. 2023; 20(3).

The extent to which people maintain new skills and generalize those skills to new contexts without support are two aspects of intervention research that can be difficult to examine, especially over a sustained period of time and across a variety of contexts. In past research, we have explored teaching parents and caregivers to implement evidence-based communication strategies with their young children with autism who are minimally verbal. When a former research participant contacted us with a request to participate in our project again, four years later and with a different son, we used this as an opportunity to ask questions about her maintenance of the skills in using the targeted strategies, and her generalization of those skills to a different child. Using the data collected with her older son, Ali, and new data collected four years later with her younger son, Rami, we present a case study of this mother. We discuss the implications of the findings on interpreting the efficacy of the telepractice intervention’s programming for generalization, identifying opportunities for refining the intervention, and insights useful for other intervention research.

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16. Moseley RL, Atkinson C, Surman R, Greville-Harris M, May L, Vuillier L. Sex-specific mechanisms for eating disorder risk in men and women with autistic traits: the role of alexithymia. Journal of eating disorders. 2023; 11(1): 18.

BACKGROUND: A poorly understood relationship exists between eating disorders (ED) and autism spectrum conditions (ASC: henceforth ‘autism’). ED are more prevalent in autistic people and people with high autistic traits, and autistic features are prognostic of longer illness. Aiming to understand what increases the risk of ED in relation to autism and autistic traits, previous research has implicated alexithymia as a causal mechanism in this relationship. These studies could not, however, disentangle whether alexithymia explains the relationship between ED pathology and autistic traits directly or through its impact on anxious/depressive symptoms, which in turn result in higher ED symptomatology. Moreover, despite evidence for sex differences in the aetiology of ED, little research has examined the impact of sex on these relationships. METHODS: Focusing on the association between autistic traits and ED psychopathology, we examined independent mediating effects of alexithymia and anxious/depressive symptoms, as well as sequential mediation effects where alexithymia affects ED psychopathology via its impact on anxious/depressive symptoms. Participants were 198 men and 265 women with formally diagnosed and suspected ED, who completed an online survey of standardised scales. RESULTS: In men, higher autistic traits were associated with ED psychopathology sequentially via greater alexithymia and through that, greater depressive/anxious symptoms. In women, alexithymia mediated the relationship between autistic traits and ED psychopathology both directly and sequentially through its impact on anxious/depressive symptoms. Interestingly, depressive/anxious symptoms also mediated that relationship independently from alexithymia. CONCLUSIONS: While cross-sectional, these findings suggest that the relationship between autistic traits and ED symptomatology is mediated by other variables. In support of its proposed role in the aetiology of ED, alexithymia was directly associated with ED symptoms in women. It also affected ED symptoms indirectly, in all participants, via its effect on depressive/anxious symptoms. Interventions focusing on alexithymia may facilitate recovery not only via their effect on ED, but via their effect on other forms of state psychopathology which contribute to the maintenance and development of ED. Sex differences, however, reflect that alternative therapeutic targets for men and women may be beneficial. Autistic individuals seem to be at higher risk of developing eating disorders (ED)—even just having autistic traits seems to elevate risk of ED, although we do not understand why. One possibility is that autism and autistic traits are closely related to alexithymia, a difficulty identifying and describing your emotions, and it may be this that increases risk of ED. To test this, we explored relationships between autistic traits and ED symptoms in men and women with ED, who completed an online survey. In men, we found that autistic traits were associated with ED symptoms because they were associated with alexithymia, and alexithymia was associated with ED symptoms because it was associated with anxious/depressive symptoms. The same was true in women, but anxious/depressive symptoms were also associated with ED symptoms in their own right. While these findings need to be investigated in more thorough longitudinal approaches, they suggest that pathways to ED differ slightly between men and women, autistic and non-autistic, and that therapeutic interventions should also differ. In both sexes, the fact that alexithymia was associated with ED symptoms and those of other mental illnesses that seemed to contribute to ED, suggests that it should be targeted in interventions. eng.

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17. Quatrosi G, Genovese D, Amodio E, Tripi G. The Quality of Life among Siblings of Autistic Individuals: A Scoping Review. Journal of clinical medicine. 2023; 12(3).

Autism spectrum disorders are a heterogeneous group of neurodevelopmental disorders presenting at a tender age, defined by qualitative deficits in social interactions and communication, thus having a substantial influence on the subject’s family unit. Quality of life (QoL) refers to a person’s perspective of their life situation, cultural and value background, objectives, expectations, and standards. When focusing on childhood and adolescence, age-related changes should be considered. For this scoping review, the authors used three peer-review literature database sources (PubMed/MEDLINE, Scopus, and ERIC) to delve deeper into components of the QoL of non-autistic siblings of autistic individuals. At the completion of the eligibility phase, 9 studies were included out of the 96 initial records. A total of 4/9 articles (45%) compared the non-autistic siblings of autistic individuals to the siblings of non-autistic people, while 3/9 articles (33%) compared the first group to the non-autistic siblings of patients with other chronic diseases. A total of 5/9 studies adopted specific questionnaires to evaluate QoL. Results from 6/9 articles revealed that the autism condition has varying effects on non-autistic siblings’ QoL. According to the considered research, non-autistic siblings of autistic individuals experienced decreased psychological well-being, less perceived social support, increased aggressiveness and conflict-proneness, and higher levels of anxiety and stress impacting their QoL. The present findings provide important implications for additional and more punctual studies in this sector. Furthermore, as being a non-autistic sibling of an autistic individual is commonly undervalued, this review advocates the need to organize and improve support services for siblings.

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18. Richdale AL, Chetcuti L, Hayward SM, Abdullahi I, Morris EMJ, Lawson LP. The impact of sleep quality, fatigue and social well-being on depressive symptomatology in autistic older adolescents and young adults. Autism research : official journal of the International Society for Autism Research. 2023.

Depression and poor sleep quality commonly co-occur with autism, and depression has been associated with loneliness and reduced social support. In non-autistic samples, poor sleep quality and daytime fatigue also contribute to depression. However, the contribution of sleep quality and fatigue to depressive symptoms, and how they interact with social factors to influence depression in autism remain unexplored. Our aim was to examine these relationships in 114 young autistic adults aged 15-25 years (57% male) from the SASLA online, longitudinal study (baseline and 2-year follow-up). Hierarchical multiple regression models examined the association between social well-being (social integration and social contribution; T1), sleep quality (T1, T2), and fatigue (T1, T2) on depression (T1, T2). Two mediation models were conducted on T1 data predicting depression from sleep quality though fatigue and sleep quality through social well-being. Depression and fatigue scores did not change over 2 years, but sleep quality worsened. The T1 regression model was significant (R(2) = 36%) with fatigue and social contribution individually predicting depression symptomatology. The longitudinal regression model was also significant (adjusted R(2) = 57%) with social contribution (T1) as the only significant predictor of depression (T2). Fatigue trended towards mediating the sleep quality-depression relationship, while social well-being was a significant partial mediator of this relationship. Results highlight that sleep quality, fatigue, and social well-being contribute to depression among young autistic adults. Interestingly, fatigue and social well-being were independently associated with depression. Thus, addressing sleep quality and associated fatigue, and social well-being is important when treating depression in autistic individuals.

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19. Sharp TH, Elsabbagh M, Pickles A, Bedford R. The subcortical correlates of autistic traits in school-age children: a population-based neuroimaging study. Molecular autism. 2023; 14(1): 6.

BACKGROUND: There is emerging evidence that the neuroanatomy of autism forms a spectrum which extends into the general population. However, whilst several studies have identified cortical morphology correlates of autistic traits, it is not established whether morphological differences are present in the subcortical structures of the brain. Additionally, it is not clear to what extent previously reported structural associations may be confounded by co-occurring psychopathology. To address these questions, we utilised neuroimaging data from the Adolescent Brain Cognitive Development Study to assess whether a measure of autistic traits was associated with differences in child subcortical morphology, and if any observed differences persisted after adjustment for child internalising and externalising symptoms. METHODS: Our analyses included data from 7005 children aged 9-10 years (female: 47.19%) participating in the Adolescent Brain Cognitive Development Study. Autistic traits were assessed using scores from the Social Responsiveness Scale (SRS). Volumes of subcortical regions of interest were derived from structural magnetic resonance imaging data. RESULTS: Overall, we did not find strong evidence for an association of autistic traits with differences in subcortical morphology in this sample of school-aged children. Whilst lower absolute volumes of the nucleus accumbens and putamen were associated with higher scores of autistic traits, these differences did not persist once a global measure of brain size was accounted for. LIMITATIONS: It is important to note that autistic traits were assessed using the SRS, of which higher scores are associated with general behavioural problems, and therefore may not be wholly indicative of autism-specific symptoms. In addition, individuals with a moderate or severe autism diagnosis were excluded from the ABCD study, and thus, the average level of autistic traits will be lower than in the general population which may bias findings towards the null. CONCLUSIONS: These findings from our well-powered study suggest that other metrics of brain morphology, such as cortical morphology or shape-based phenotypes, may be stronger candidates to prioritise when attempting to identify robust neuromarkers of autistic traits.

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20. Simone M, De Giacomo A, Palumbi R, Palazzo C, Lucisano G, Pompamea F, Micella S, Pascali M, Gabellone A, Marzulli L, Giordano P, Gargano CD, Margari L, Frigeri A, Ruggieri M. Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Potential Diagnostic Biomarkers in Autism Spectrum Disorders: A Preliminary Study. International journal of molecular sciences. 2023; 24(3).

Autism spectrum disorder (ASD) is one of the most common neurodevelopment disorders, characterized by a multifactorial etiology based on the interaction of genetic and environmental factors. Recent evidence supports the neurobiological hypothesis based on neuroinflammation theory. To date, there are no sufficiently validated diagnostic and prognostic biomarkers for ASD. Therefore, we decided to investigate the potential diagnostic role for ASD of two biomarkers well known for other neurological inflammatory conditions: the glial fibrillary acidic protein (GFAP) and the neurofilament (Nfl). Nfl and GFAP serum levels were analyzed using SiMoA technology in a group of ASD patients and in a healthy control group (CTRS), age- and gender-matched. Then we investigated the distribution, frequency, and correlation between serum Nfl and GFAP levels and clinical data among the ASD group. The comparison of Nfl and GFAP serum levels between ASD children and the control group showed a mean value of these two markers significantly higher in the ASD group (sNfL mean value ASD pt 6.86 pg/mL median value ASD pt 5.7 pg/mL; mean value CTRS 3.55 pg/mL; median value CTRS 3.1 pg; GFAP mean value ASD pt 205.7 pg/mL median value ASD pt 155.4 pg/mL; mean value CTRS 77.12 pg/mL; median value CTRS 63.94 pg/mL). Interestingly, we also found a statistically significant positive correlation between GFAP levels and hyperactivity symptoms (p-value <0.001). Further investigations using larger groups are necessary to confirm our data and to verify in more depth the potential correlation between these biomarkers and ASD clinical features, such as the severity of the core symptoms, the presence of associated symptoms, and/or the evaluation of a therapeutic intervention. However, these data not only might shed a light on the neurobiology of ASD, supporting the neuroinflammation and neurodegeneration hypothesis, but they also might support the use of these biomarkers in the early diagnosis of ASD, to longitudinally monitor the disease activity, and even more as future prognostic biomarkers.

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21. Torralbas-Ortega J, Valls-Ibáñez V, Roca J, Sastre-Rus M, Campoy-Guerrero C, Sala-Corbinos D, Sánchez-Fernández M. Affectivity and Sexuality in Adolescents with Autism Spectrum Disorder from the Perspective of Education and Healthcare Professionals: A Qualitative Study. International journal of environmental research and public health. 2023; 20(3).

People with autism spectrum disorder (ASD) present several different characteristics that predispose them to greater difficulties with intimate emotional and sexual relationships. This qualitative study uncovers the perspective of education and healthcare professionals on the affective and sexual needs of young people with ASD by analysing their narratives in semi-structured focus group sessions. Professionals highlight the inadequate training they receive in this aspect of health. They consider it should be commonplace for professionals working with autistic people as it would aid their collaborative efforts when treating children and adolescents with ASD. They show that, by working together with the families to establish joint objectives, these professionals can appropriately address sex and affective education, preventing risky behaviours among young people with ASD, and improving the interactions these individuals have with others. Sex and affective education is described as an indispensable tool at this stage of development and should be specially adapted for those with ASD.

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22. Tremolada M, Rosa M, Incardona RM, Taverna L, Guidi M. Impact of the COVID-19 Pandemic on Psychosocial Well-being and Adaptation in Children and Adolescents with Asperger’s Syndrome. International journal of environmental research and public health. 2023; 20(3).

Mental health could worsen in children and adolescents with autism spectrum disorder during the COVID-19 pandemic. In addition, their parents could be more at risk for an increase in anxiety and depression symptomatology. This study aims to understand the adaptation and the psychosocial well-being in a sample of 16 males aged 10-21 years old with Asperger’s syndrome after the quarantine for COVID-19 when they return to school and partially to their activities in September 2020. The adopted approach is multi-informant with a battery of questionnaires on psychological health and adaptation given by a secure online web data Qualtrics both to adolescents and also to their parents. Paralleling matched peers with typical developments were assessed by adopting the same methodology. The results evidenced several difficulties in psychological health in population with Asperger’s syndrome, especially in anxiety and socialization. Adaptation is put in crisis, even if they reported a good comprehension and adoption of the right behaviors anti-COVID-19. Parents of children with Asperger’s syndrome reported similar psychological difficulties and general health to those of the group of children typically developing. Some clinical indications could be discussed for psychologists who follow children and adolescents with Asperger’s syndrome.

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23. Ullah F, AbuAli NA, Ullah A, Ullah R, Siddiqui UA, Siddiqui AA. Fusion-Based Body-Worn IoT Sensor Platform for Gesture Recognition of Autism Spectrum Disorder Children. Sensors (Basel, Switzerland). 2023; 23(3).

The last decade’s developments in sensor technologies and artificial intelligence applications have received extensive attention for daily life activity recognition. Autism spectrum disorder (ASD) in children is a neurological development disorder that causes significant impairments in social interaction, communication, and sensory action deficiency. Children with ASD have deficits in memory, emotion, cognition, and social skills. ASD affects children’s communication skills and speaking abilities. ASD children have restricted interests and repetitive behavior. They can communicate in sign language but have difficulties communicating with others as not everyone knows sign language. This paper proposes a body-worn multi-sensor-based Internet of Things (IoT) platform using machine learning to recognize the complex sign language of speech-impaired children. Optimal sensor location is essential in extracting the features, as variations in placement result in an interpretation of recognition accuracy. We acquire the time-series data of sensors, extract various time-domain and frequency-domain features, and evaluate different classifiers for recognizing ASD children’s gestures. We compare in terms of accuracy the decision tree (DT), random forest, artificial neural network (ANN), and k-nearest neighbour (KNN) classifiers to recognize ASD children’s gestures, and the results showed more than 96% recognition accuracy.

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24. Voinsky I, Fridland OY, Aran A, Frye RE, Gurwitz D. Machine Learning-Based Blood RNA Signature for Diagnosis of Autism Spectrum Disorder. International journal of molecular sciences. 2023; 24(3).

Early diagnosis of autism spectrum disorder (ASD) is crucial for providing appropriate treatments and parental guidance from an early age. Yet, ASD diagnosis is a lengthy process, in part due to the lack of reliable biomarkers. We recently applied RNA-sequencing of peripheral blood samples from 73 American and Israeli children with ASD and 26 neurotypically developing (NT) children to identify 10 genes with dysregulated blood expression levels in children with ASD. Machine learning (ML) analyzes data by computerized analytical model building and may be applied to building diagnostic tools based on the optimization of large datasets. Here, we present several ML-generated models, based on RNA expression datasets collected during our recently published RNA-seq study, as tentative tools for ASD diagnosis. Using the random forest classifier, two of our proposed models yield an accuracy of 82% in distinguishing children with ASD and NT children. Our proof-of-concept study requires refinement and independent validation by studies with far larger cohorts of children with ASD and NT children and should thus be perceived as starting point for building more accurate ML-based tools. Eventually, such tools may potentially provide an unbiased means to support the early diagnosis of ASD.

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25. Wang L, Wang B, Wu C, Wang J, Sun M. Autism Spectrum Disorder: Neurodevelopmental Risk Factors, Biological Mechanism, and Precision Therapy. International journal of molecular sciences. 2023; 24(3).

Autism spectrum disorder (ASD) is a heterogeneous, behaviorally defined neurodevelopmental disorder. Over the past two decades, the prevalence of autism spectrum disorders has progressively increased, however, no clear diagnostic markers and specifically targeted medications for autism have emerged. As a result, neurobehavioral abnormalities, neurobiological alterations in ASD, and the development of novel ASD pharmacological therapy necessitate multidisciplinary collaboration. In this review, we discuss the development of multiple animal models of ASD to contribute to the disease mechanisms of ASD, as well as new studies from multiple disciplines to assess the behavioral pathology of ASD. In addition, we summarize and highlight the mechanistic advances regarding gene transcription, RNA and non-coding RNA translation, abnormal synaptic signaling pathways, epigenetic post-translational modifications, brain-gut axis, immune inflammation and neural loop abnormalities in autism to provide a theoretical basis for the next step of precision therapy. Furthermore, we review existing autism therapy tactics and limits and present challenges and opportunities for translating multidisciplinary knowledge of ASD into clinical practice.

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26. Wang Y, Liu C, Deng J, Xu Q, Lin J, Li H, Hu M, Hu C, Li Q, Xu X. Behavioral and Sensory Deficits Associated with Dysfunction of GABAergic System in a Novel shank2-Deficient Zebrafish Model. International journal of molecular sciences. 2023; 24(3).

Hyper-reactivity to sensory inputs is a common and debilitating symptom of autism spectrum disorder (ASD), but the underlying neural abnormalities remain unclear. Two of three patients in our clinical cohort screen harboring de novo SHANK2 mutations also exhibited high sensitivity to visual, auditory, and tactile stimuli, so we examined whether shank2 deficiencies contribute to sensory abnormalities and other ASD-like phenotypes by generating a stable shank2b-deficient zebrafish model (shank2b(-/-)). The adult shank2b(-/-) zebrafish demonstrated reduced social preference and kin preference as well as enhanced behavioral stereotypy, while larvae exhibited hyper-sensitivity to auditory noise and abnormal hyperactivity during dark-to-light transitions. This model thus recapitulated the core developmental and behavioral phenotypes of many previous genetic ASD models. Expression levels of γ-aminobutyric acid (GABA) receptor subunit mRNAs and proteins were also reduced in shank2b(-/-) zebrafish, and these animals exhibited greater sensitivity to drug-induced seizures. Our results suggest that GABAergic dysfunction is a major contributor to the sensory hyper-reactivity in ASD, and they underscore the need for interventions that target sensory-processing disruptions during early neural development to prevent disease progression.

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27. Xiao N, Shinwari K, Kiselev S, Huang X, Li B, Qi J. Effects of Equine-Assisted Activities and Therapies for Individuals with Autism Spectrum Disorder: Systematic Review and Meta-Analysis. International journal of environmental research and public health. 2023; 20(3).

Autism spectrum disorder (ASD) has become a critical public health issue that affects more than 78 million people. In many recent studies, the authors have demonstrated that equine-assisted activities and therapies (EAATs) can substantially improve the social and behavioral skills of children with ASD. However, the qualities of the studies differ, and some authors reached opposite conclusions. In this review, we systematically and objectively examined the effectiveness of EAATs for people with ASD, combining both qualitative and quantitative methods. We searched five databases (PubMed, Scopus, ERIC, ProQuest, and MEDLINE) and added relevant references, and we identified 25 articles for data extraction and analysis. According to our results, EAAT programs can substantially improve the social and behavioral functioning and language abilities of children with ASD. However, among the subdomains, the results were inconsistent. According to the meta-analyses, there were considerable improvements in the social cognition, communication, irritability, and hyperactivity domains, but not in the domains of social awareness, mannerisms, motivation, lethargy, stereotypy, or inappropriate speech. Moreover, there was a lack of sufficient comparative data to conclude that EAAT programs lead to substantial improvements in motor and sensory functioning. In addition, among the included studies, we noted the indicator of whether EAAT programs decreased parental stress and improved family functioning, and although there were four articles in which the researchers considered this aspect, we were unable to draw any conclusions because of the insufficient data and conflicting descriptive evidence. However, we need to consider the improvement in parental mental health as a factor in the effectiveness of this complementary intervention. We hope that in future studies, researchers will focus on family functioning and conduct more randomized controlled trials (RCTs) with blinded assessments using different scales and measures.

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28. Yao H, Fu Y, Weng X, Zeng Z, Tan Y, Wu X, Zeng H, Yang Z, Li Y, Liang H, Wu Y, Wen L, Jing C. The Association between Prenatal Per- and Polyfluoroalkyl Substances Exposure and Neurobehavioral Problems in Offspring: A Meta-Analysis. International journal of environmental research and public health. 2023; 20(3).

Exposure to per- and polyfluoroalkyl substances (PFAS) during pregnancy has been suggested to be associated with neurobehavioral problems in offspring. However, current epidemiological studies on the association between prenatal PFAS exposure and neurobehavioral problems among offspring, especially attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are inconsistent. Therefore, we aimed to study the relationship between PFAS exposure during pregnancy and ADHD and ASD in offspring based on meta-analyses. Online databases, including PubMed, EMBASE, and Web of Science, were searched comprehensively for eligible studies conducted before July 2021. Eleven studies (up to 8493 participants) were included in this analysis. The pooled results demonstrated that exposure to perfluorooctanoate (PFOA) was positively associated with ADHD in the highest quartile group. Negative associations were observed between perfluorooctane sulfonate (PFOS) and ADHD/ASD, including between perfluorononanoate (PFNA) and ASD. There were no associations found between total PFAS concentration groups and neurobehavioral problems. The trial sequential analyses showed unstable results. Our findings indicated that PFOA and PFOS exposure during pregnancy might be associated with ADHD in offspring and that prenatal PFOS and PFNA exposure might be associated with ASD in offspring. According to the limited evidence obtained for most associations, additional studies are required to validate these findings.

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