Pubmed du 28/03/25
1. Adams N, Jacobsen K, Li L, Francino M, Rutherford L, Tei C, Scheim A, Bauer G. Health and Health Care Access of Autistic Transgender and Nonbinary People in Canada: A Cross-Sectional Study. Autism Adulthood;2025 (Feb);7(1):66-80.
BACKGROUND: The existence and health care needs of individuals who are both autistic and transgender and nonbinary (TNB) are increasingly discussed publicly. While research demonstrating a greater prevalence of autism among TNB individuals continues to grow, little captures their experiences with primary, mental health, and gender-affirming care (GAC), particularly between self-identified and diagnosed autistic TNB individuals. This article explores this nexus. METHODS: We conducted a subgroup analysis of the Trans PULSE Canada 2019 national survey (n = 2873). We included both individuals who self-reported a diagnosis of autism (n = 230) and those who self-identify as autistic without one (n = 176). We compared participant demographics, health status, and health care experiences by autistic status (diagnosed, self-identified only, or allistic [non-autistic]) using weighted chi-square tests and logistic regression analyses. RESULTS: Of Trans PULSE participants, 14.3% were autistic (8.1% diagnosed, 6.2% self-identified). Compared with their allistic peers, autistic participants were younger, had lower levels of education, employment, and income, and were more likely to identify as asexual. They also reported worse overall general health, a higher rate of unmet health care needs, and significant mental health disparities. While few diagnosed (3.7%) or self-identified (1.1%) autistic participants reported being directly denied GAC due to autism, 25.5% of diagnosed and 36.1% of self-identified individuals preemptively avoided sharing information about it during GAC readiness assessments in the past year. CONCLUSIONS: Our findings highlight the need for changes to treatment of autistic TNB people in primary and mental health care. Future research should explore both individual responses and systematic changes to these challenges. Community brief Why is this an important issue? Our research team is primarily made up of neurodivergent transgender and nonbinary (TNB) individuals. We wanted to better understand the experiences and challenges faced by people who are both TNB and autistic (autistic TNB). Research on this experience is relatively rare, and little is created by those with lived experience of this intersection. Without this information, gender-affirming care (GAC) providers often treat autistic TNB people overcautiously, for instance, by requiring longer waiting periods to access care. What was the purpose of this study? Our study compares health and health care experiences of autistic (both diagnosed and self-identified) and allistic (non-autistic) TNB people in Canada. What did the researchers do? We report on a subanalysis of the 2019 Trans PULSE Canada survey on the health and well-being of 2873 TNB people in Canada. Our study explored the health and health care experiences of the 406 participants who indicated that they were diagnosed with autism or self-identified as autistic when asked. We conducted statistical analyses to compare the responses of autistic TNB individuals with allistic participants in the wider Trans PULSE Canada study. What were the results of the study? Autistic individuals in our study were slightly younger and had lower reported levels of education, employment, and income than allistic participants. They were also much more likely to identify as asexual. Overall, autistic participants reported worse general and mental health and experienced more unmet health care needs than those who were allistic. Very few diagnosed (3.7%) or self-identified (1.1%) autistic participants told us that they were denied GAC due to autism. However, 25.5% of diagnosed respondents and 36.1% of self-identified respondents reported avoiding sharing information about their autism during GAC readiness assessments. Furthermore, those with an autism diagnosis were more likely than either self-identified or allistic respondents to have difficulty affording GAC (45.6% vs. 33.0% vs. 32.5%). This group was also more likely to have been denied GAC due to a disability other than autism (5.5% vs. 1.1% vs. 1.2%). What do these findings add to what was already known? Our findings help to fill gaps in what is known about autistic TNB people’s experiences of health care. They also help to clarify how autistic people are treated when seeking GAC. Our study found, for instance, that autistic TNB people are misgendered more often by mental health care providers than allistic TNB individuals. This information could be used to provide training on making TNB mental health care practice more accessible and welcoming to autistic people. Similarly, future research could further explore why such misgendering seems to happen more often with autistic TNB individuals. What are potential weaknesses in the study? Our research did not use a random sample and so our results are not representative of all autistic TNB people in Canada. We also did not include any cisgender autistic people in our study. As a result, we cannot draw any conclusions about the comparative experiences of TNB and cisgender autistic people. How will these findings help autistic adults now or in the future? Autistic TNB participants in our study experienced multiple barriers to accessing health care, had worse overall health than allistic TNB people, and showed a tendency to hide their autism when attempting to access GAC. We hope that these findings can help to reduce health care barriers and disparities for autistic TNB individuals and communities. Autistic TNB people need and deserve access to GAC for the same reasons and on the same terms as allistic individuals. eng
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2. Ali OI, Sarsak HI, Tarshi MM, Marji M, Aljohani ST, Badawood MN, Bamusallam MM, Alharbi K, Ibrahim ZM, Sheeha BB, Amin WM. Assessment of Hand Grip and Pinch Strengths in Children with Autism Spectrum Disorders: A Cross-Sectional Study. Children (Basel);2025 (Mar 1);12(3)
Background/objective: Children with autism spectrum disorders (ASD) are recognized to experience challenges with muscle function. However, there is a lack of knowledge about muscle and hand grip strength in autism. Therefore, the study aims to assess the handgrip and pinch strength of ASD and typical children. Material and method: This study enrolled 45 participants of both sexes, 27 males and 18 females, aged 6-12 years old; 24 (13 females and 11 males) were typically developing children and 21 (5 females and 16 males) had ASD. The outcome measures were hand grip and pinch strength, with the handheld dynamometer assessing handgrip strength and the hydraulic pinch gauge evaluating pinch grip. The hydraulic pinch gauge measured the pinch strengths of the key, tripod, and pulp grips. Both groups were assessed on both their dominant and non-dominant sides. Result: A comparison of the ASD group with the control group revealed that children with ASD exhibited lower values of the hand grip, key pinch, tripod pinch, and pulp pinch strengths for both hands (p < 0.05). Conclusions: The hand and pinch strengths of ASD children are lower than those of typically developing children. Therefore, the evaluation process for children with ASD should include hand and pinch strengths as a standard component. Furthermore, the rehabilitation program for ASD should prioritize enhancing hand strength.
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3. Allen AM, Burk JA, Dickter CL. The Effect of Labeling During Simulated Contact on Attitudes Toward Autistic Adults. Autism Adulthood;2025 (Feb);7(1):93-99.
BACKGROUND: Autistic adults are perceived more negatively than neurotypical (NT) adults by NT individuals. These negative perceptions can contribute to discrimination toward and social exclusion of autistic adults, which is detrimental to their mental and physical well-being. This study examined whether reading a vignette and imagining an interaction with a peer labeled as autistic would improve implicit and explicit attitudes toward autistic people. METHODS: NT adults (n = 120) read a vignette and were asked to imagine an interaction with an unfamiliar person who was either labeled as autistic or not and displayed perseverative behavior, limited eye contact, or no described behavior. RESULTS: Overall, participants associated autistic terms with negative attributes rather than positive attributes, but those who imagined interacting with an individual labeled as autistic had less negative implicit bias toward autistic people than those who imagined interacting with a person without a label of autism. Explicit bias was not affected by the simulated scenario. When assessing some of the factors that are associated with implicit and explicit attitudes, we found that implicit attitudes and prior contact with autistic individuals were significantly related while controlling for Societal Attitudes towards Autism (SATA), while explicit attitudes were associated with SATA controlling for prior contact. DISCUSSION: These findings suggest that a brief exercise in which participants imagine a positive encounter with a person labeled as autistic can reduce implicit bias toward autistic people. Community brief Why is this an important issue? Previous research shows that neurotypical adults tend to have negative attitudes towards autistic adults. These negative attitudes can lead to negative judgments about and discrimination towards autistic people. Some of these attitudes are conscious such that individuals are aware of and acknowledge their attitudes. This is called “explicit bias.” Other attitudes are unconscious, with individuals potentially being unaware of their attitudes. This is called “implicit bias.” Because both conscious and unconscious attitudes can lead to negative behavior towards autistic adults, researchers need to find ways to improve both types of bias. What was the purpose of this study? To test whether imagining a positive interaction with an autistic peer can improve neurotypical adults’ conscious and unconscious attitudes about autistic people. Previous research has shown that imagining and writing about a positive interaction with an autistic person can improve individuals’ conscious attitudes towards autistic people. In the current study, we also wanted to examine whether this short exercise would improve unconscious attitudes as well. What did the researchers do? We asked 120 neurotypical adults to imagine that they were interacting with an unfamiliar person. In some cases, we told them the person was autistic and in others we did not. When asking them to imagine the interaction, we sometimes told them to imagine that the person displayed some autistic behaviors, while in other cases, we did not describe any autistic behaviors, We asked participants to imagine that the interaction was positive, relaxed, and comfortable and to write about the interaction for two minutes. After this exercise, participants completed a survey measuring their conscious attitudes towards autistic adults and a computer task that assessed their unconscious attitudes towards autistic people. What were the results of the study? Participants’ unconscious attitudes towards autistic people were negative overall (they displayed an implicit bias). However, participants who imagined a positive interaction with a peer whom they were told was autistic had more positive unconscious attitudes than participants who were not told the imaginary person was autistic. Whether or not we told them the peer was autistic did not affect the conscious attitudes (explicit bias) we measured using surveys. Participants with more previous experiences with autistic individuals had more positive unconscious attitudes about autistic people. Further, conscious attitudes about autistic people were more positive in those with more knowledge about autism. What are the potential weaknesses in this study? Our participants were all college students. Additionally, we measured attitudes directly after the brief exercise and thus cannot be sure if attitude changes would last beyond the experimental session. How will these findings help autistic adults now or in the future? This study suggests that, although neurotypical individuals may hold negative attitudes towards autistic adults, these attitudes can be changed. This exercise could potentially be used in business or educational settings to reduce negative attitudes toward autistic individuals. Further, this study highlights the importance of educating neurotypical individuals about autism to improve their interpersonal interactions with autistic adults. eng
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4. Alsalmi OA, Aljohani AI, Almutairi SM, Alsufyani RO, Alrubayee AR, Alzahrani KJ, Alkhammash GE, Aljuaid HM, Alghamdi HS, Alsaeedi FA. Clinical Significance of Fragile X Syndrome 2 (FXR2) in Breast Cancer. Genes (Basel);2025 (Mar 1);16(3)
Background: The fragile X protein family comprises three members: the fragile X syndrome protein (FMRP) and its structural homologs, fragile X syndrome 1 and 2 (FXR1 and FXR2). FMRP has a significant role in controlling the genesis and progression of various forms of human cancer. However, studies on the prognostic significance of FXR2 in cancer are scarce. Thus, this study aimed to investigate the clinicopathological significance of FXR2, a member of the FMRP family, in primary breast cancer (BC). Methods: A total of 100 formalin-fixed paraffin-embedded (FFPE) tissue blocks from invasive BC cases were collected from King Abdulaziz Hospital in Saudi Arabia. Immunohistochemistry (IHC) was used to assess FXR2 protein expression in the BC tissues, and the results were correlated with clinicopathological parameters, such as tumor grade, tumor size and hormone receptor status. Additionally, the association between clinicopathological features and FXR2 mRNA expression was assessed using the BC Gene-Expression Miner v5.0 tool on all publicly available DNA microarray (n = 10,872) and RNA sequence (n = 4421) data to validate the results. Results: FXR2 protein expression was significantly associated with human epidermal growth factor 2 (HER2) negativity (p = 0.010) and low Ki67 (p < 0.001). Both DNA microarray and RNA sequence data showed that HER2 negativity was strongly linked to high levels of FXR2 mRNA. High FXR2 mRNA levels were also correlated with hormone receptor negativity and mutated p53. Conclusions: This study suggests that FXR2 may have indirect clinical significance in BC. However, further studies are warranted to deepen our understanding of the association between FXR2 and other clinicopathological parameters, which could lead to improved diagnostic, treatment, and prognostic strategies for BC patients.
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5. Anchieta MV, Torro-Alves N, da Fonsêca É KG, de Lima Osório F. Effects of social skills training on social responsiveness of people with Autism spectrum disorder: a systematic review with meta-analysis. Eur Child Adolesc Psychiatry;2025 (Mar 28)
Social skills training (SST) is a widely proposed intervention to address social impairments in autism spectrum disorder (ASD). SST employs a series of activities aiming to enhance pro-social behaviors. A promising approach to evaluate SST’s effects lays on social responsiveness (SR) indicators, which are related to the capacity to respond appropriately to social stimuli. Despite the widespread use of SST, there are no integrative studies evaluating its effects on the SR of ASD people. We performed a systematic review with meta-analysis investigating the effects of SSTs in SR indicators of individuals with ASD. PRISMA guidelines were considered to search through EMBASE, PubMed, PsycINFO, and Scopus without timeframes or language restrictions. Randomized controlled trials (RCTs) were included only. Jamovi (version 1.6) was used to perform the meta-analysis with the standardized mean difference (SMD) between pre and post-intervention scores (∆) as the outcome measure. Twenty-seven papers composed the review and 25 the meta-analysis. The population was predominantly male (80%), with a mean age of 13.03 years. Interventions were mostly conducted in group settings. Meta-analysis indicated the set of interventions as capable of improving SR indicators of ASD people (SMD = 0.57 (CI 95% 0.46-0.67; p < 0.0001). Although our findings cannot support PEERS program as quantitatively superior to other programs, its methodological consistency, treatment adherence and involvement of parents are noteworthy. SST appears to be a viable, versatile, and easily implementable intervention to improve SR of individuals with ASD.
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6. Beresford B, Mukherjee S. Incorporating Psychoeducational Care in the Autism Diagnosis Pathway: Experiences, Views, and Recommendations of UK Autistic Adults and Autism Professionals. Autism Adulthood;2025 (Feb);7(1):13-24.
BACKGROUND: When someone receives a diagnosis they may need support with information and emotional needs. These are called psychoeducational needs. For adults diagnosed with autism, these can include needing to understand and make sense of the diagnosis and finding self-management strategies that work for them. When autistic adults do not receive the psychoeducational support they need their mental health and self-confidence in managing everyday life is affected. However, many diagnostic services do not provide psychoeducational care. In this study, we investigated autistic adults’ and autism specialist staff’s views on the psychoeducational care that diagnostic services should provide. METHODS: We recruited 26 autistic adults and 30 staff working in 8 UK autism services commissioned to provide both diagnostic assessments and post-diagnostic care. The staff sample included five autistic adults employed as « experts by experience » to co-deliver psychoeducational support. We used group discussions (or, where required, 1:1 interviews) to explore their views and experiences. RESULTS: Study participants believed psychoeducational needs arose during the assessment process (e.g., possible emotional reactions to diagnosis), and when the diagnosis is divulged (e.g., managing disclosure) as well as during the weeks and months following diagnosis. In this period, study participants agreed that the psychoeducational care offered by diagnostic services should include a debrief appointment, psychoeducation program, and the provision of « curated » information. That is, information resources carefully selected by staff and in multiple formats (e.g., text-based, videos). Study participants believed autism professionals and « experts by experience » had distinct contributions to make in meeting psychoeducational needs. CONCLUSION: Findings support the case for diagnostic services to have the resources to address psychoeducational needs across the diagnostic pathway, including the offer of a debrief appointment and group-delivered psychoeducational program (with the option for 1:1 delivery) post-diagnosis. « Experts by experience » should be integral to the development and delivery of psychoeducational care. Community brief Why is this an important issue? When someone receives a diagnosis, they may have needs for information and emotional support, called psychoeducational needs. In the United Kingdom (UK), most autism diagnosis services are not able to offer psychoeducational care following diagnosis. However, for some, being diagnosed as autistic can be emotional and unsettling. Some people may feel they know very little about autism or feel unsure about how to best manage everyday life as an autistic adult. It is important that we understand what autism diagnostic services should be doing to meet people’s psychoeducational needs. What was the purpose of this study? Our aim was to develop recommendations for diagnostic services on how to meet the psychoeducational needs that can arise when someone is diagnosed as autistic. What did the researchers do? We spoke to 26 autistic adults living in the United Kingdom about their experiences of being diagnosed as adults and their views about how people should be supported in the days and months following diagnosis. We used online focus groups or, if requested, individual interviews to hear their views and experiences. We also used workshops to consult with 30 staff working in autism diagnosis services that also offered extended post-diagnostic support. The staff taking part included five autistic adults employed as “experts by experience” to codeliver psychoeducational support. What were the results of the study? Many autistic adults described difficult experiences around the time of their diagnosis, of feeling isolated and unsupported, or poorly supported. However, some had attended “post-diagnostic” groups, which they found very helpful for understanding and making sense of the diagnosis, learning self-management skills, and making connections with other autistic adults. Everyone agreed it was essential for diagnostic services to recognize and attend to the needs for information and emotional support which arise from going through an autism diagnosis. They argued that it should include the following: (1) guidance on disclosure at the assessment feedback appointment; (2) information resources in multiple formats (including autistic people’s accounts of living with autism); (3) the offer of a debrief appointment; and (4) a post-diagnostic group (or 1:1 sessions). There was also strong agreement that professionals and autistic adults need to work together to design and deliver resources and group programs. What do these findings add to what is already known? Previous studies have highlighted the importance of post-diagnostic support. This is the first study that sought to specify how autism diagnostic services should meet the psychoeducational needs that can arise when someone is diagnosed as autistic. What are the potential weaknesses in the study? The majority of the autistic adults who took part in this study identified themselves as White British. The study was conducted in the United Kingdom and our findings and recommendations may not directly transfer to other countries. How will these findings help autistic adults now or in the future? Directly based on the study findings, we make recommendations that diagnostic services can use to develop or extend what they provide. Going forward, we need research that evaluates the impacts of providing high-quality psychoeducational care. This will help to make the case for diagnostic services to have the funds and resources to offer psychoeducational care following an autism diagnosis. eng
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7. Bertelli MO, Bianco A, Piva Merli M, Vescio MS, Rossi M, Buonaguro EF. Personal Quality of Life as an Outcome Measure of Antipsychotic Drug Management of Problem Behaviours in Adults with Intellectual Developmental Disorders with or Without Autism Spectrum Disorder. Brain Sci;2025 (Mar 18);15(3)
Background/Objectives: First-generation antipsychotics (FGAs) and second-generation antipsychotics (SGAs) are frequently prescribed for the management of problem behaviours (PBs) in people with intellectual developmental disorders (IDDs) with or without autism spectrum disorder (ASD). However, the different effectiveness of these two groups of drugs has not been adequately investigated, especially in terms of person-centred outcomes, such as quality of life (QoL). The aim of the present observational study was to compare the personal QoL of two groups of people with IDDs with and without ASD, attending the same residential facility, but receiving FGAs and SGAs, respectively, for the management of PBs. Methods: Twenty-two people with IDDs (ten with ASD) receiving FGAs and twenty-three (eleven with ASD) receiving SGAs for the management of PBs were consecutively recruited. The participants underwent a complex clinical and instrumental evaluation, including the systematic psychopathological assessment for persons with intellectual and developmental disabilities-general screening (SPAIDD-G), the Wing’s handicaps, behaviours, and skills schedule (HBS), the DOTES, and the BASIQ (QoL Assessment tool battery). Follow-up evaluations were carried out after 6, 12, and 18 months. Results: The use of antipsychotics was withdrawn only in 16 cases, of which only 4 were for significant improvement. Treatment with FGAs was associated with more frequent discontinuation, a higher incidence of side effects, and a trend toward a lower efficacy on PBs than treatment with SGAs. FGAs also improved generic QoL significantly less than SGAs. Conclusions: The present pilot study is the first to compare FGAs and SGAs with respect to the generic QoL in people with IDDs and PBs. SGAs resulted to have a significantly greater positive impact on QoL than FGAs, despite demonstrating similar efficacy in treating PBs.
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8. Camilleri LJ, Maras K, Brosnan M. Self-Set Goals: Autistic Adults Facilitating Their Self-Determination Through Digitally Mediated Social Stories. Autism Adulthood;2025 (Feb);7(1):25-38.
BACKGROUND: Personalized and practical support can facilitate autistic adults’ independence and agency and can enable enhanced self-determination while influencing quality of life. Notwithstanding, traditional supports or interventions for autistic adults typically seek to address perceived challenges associated with autism, rather than identify what the autistic person wants support with. In this research, we explored the potential to empower autistic people by attaining their own self-set goals with the support of digitally mediated Social Stories. METHODS: We conducted a pre/post quasiexperimental design to investigate the usefulness and effectiveness of digitally mediated Social Stories for autistic adults to support the attainment of their self-set goals. Thirty-three autistic participants self-set goals and self-developed Social Stories using a digital application. We collected closeness-to-goal measures at baseline and after 2 weeks of reading their digitally mediated Social Stories themselves and we compared them with a control condition. We then evaluated the goals participants were interested in. The autistic adults also evaluated the usefulness of the intervention for them. RESULTS: Over 2 weeks, the use of self-set goals, combined with a digitally mediated Social Story, elicited a statistically significant increase in closeness-to-goal ratings with a large effect size. The majority of participants reported that digitally mediated Social Stories were an appropriate and effective form of self-support. Our analysis of the participants’ goals indicated that autistic adults predominantly identified a need for support with increasing nonsocial behaviors. CONCLUSION: Self-developed digitally mediated Social Stories can effectively support autistic adults in reaching their self-set goals. Digitally mediated Social Stories can support reflection on one’s goals, increase commitment toward goals, break down tasks into meaningful parts, as well as create meaningful predictions for autistic adults. Thus, digitally mediated Social Stories have the potential to empower autistic adults to self-support reaching self-set goals. Community brief Why is this an important issue? Often when supporting autistic individuals, the focus is on perceived challenges associated with autism, without asking them what they really require. Yet, when we involve autistic individuals in identifying what support they need and what goals they would like to pursue, it can make their lives better. What was the purpose of this study? This study explored how a digitally mediated Social Story can support autistic adults achieve intervention goals they identified and wanted to accomplish on their own. What did we do? We asked 33 autistic adults to identify what goals they are interested in reaching. We then invited them to develop their own Social Stories, using a digital tool, which described how they could reach their goals. We also invited the participants to read their self-developed story for 2 weeks and measured the individuals’ progress toward their specific self-set goals. Finally, we asked the autistic adults to share their thoughts about the support tool. What were the results of the study? The results suggest that self-set goals are useful and that self-developed Social Stories, which are developed using a digital tool and accessed on a digital device, can effectively support autistic adults in reaching their self-set goals. The goals that autistic adults self-identified focused mostly on increasing nonsocial behaviors such as gaining skills or completing tasks. Eighty percent of participants indicated that their experience with digitally mediated Social Stories within this study was positive. Autistic adults also reported how they felt more in control of their intervention. What do these findings add to what was already known? Previous studies have shown that Social Stories can be used to support children. This study shows that Social Stories can also be useful for adults. Adults can write their own Social Stories, and the process of using digital Social Stories can help autistic adults achieve the goals they set for themselves. What are the potential weaknesses in the study? Findings are limited to autistic people who have good reading, writing, and comprehension skills. Further research is required to extend the findings to other groups. How will these findings help autistic adults now or in the future? This tool may serve to support the autistic community in making their own choices about what goals to work toward and how to reach those goals. eng
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9. Chan KJC, Lapitan MCM, Cordero CP. Goal Attainment Scaling and Quality of Life of Autistic Children Receiving Speech and Language Therapy in a Higher Educational Institution in the Philippines. Acta Med Philipp;2025;59(3):7-20.
OBJECTIVES: This study aimed to describe the demographic profile, intervention sessions, goal attainment scaling (GAS), and health-related quality of life (HRQOL) of autistic children receiving speech and language therapy (SLT) in a higher educational institution in the Philippines. METHODS: Deidentified data from 18 autistic children aged 4-16 years (mean=8.2; SD=2.9) who received SLT for two months were analyzed. Their demographic profile, intervention sessions, GAS scores, and generic HRQOL scores were documented. RESULTS: Most participants were school-age children (n=12; 66%) and were boys (n=14; 78%). After two months, the GAS scores of 11 participants (61%) increased by 1-2 points, whereas the scores of the remaining participants decreased (n=6; 33%) or did not change (n=1; 6%). Their mean generic HRQOL scores before and after SLT were 65.6 (SD=15.2) and 61.2 (SD=17.4), respectively. CONCLUSIONS: While the GAS scores increased for most participants, their generic HRQOL scores did not show clinically significant changes after two months of SLT. This can be attributed to the few therapy sessions and short follow-up period. The findings highlight the need to provide long-term support to SLT services of autistic children in the Philippines to document more desirable quality of life outcomes.
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10. Choi B. Giving Voices: Qualitative Study on Parental Experiences of Caring for Children with Cerebral Palsy or Developmental Disabilities in South Korea. Children (Basel);2025 (Feb 26);12(3)
Background/Objectives: This study investigates the lived experiences of Korean parents caring for children with cerebral palsy or developmental disabilities, focusing on the challenges they face. It highlights systemic and societal factors, including gaps in diagnostic processes, financial support, access to information, and inclusive education. Methods: Using a qualitative approach, semi-structured interviews were conducted with 17 parents, recruited through purposive sampling. Thematic analysis was employed to identify key patterns and challenges in their experiences. Results: Parents reported significant difficulties, including delayed and insensitive diagnostic processes, financial burdens due to inadequate welfare support, and limited access to coordinated information. Educational challenges included disabling attitudes among teachers and a lack of genuine inclusion. Societal stigma further compounded their struggles. Despite these obstacles, parents demonstrated resilience and advocated for their children’s needs. Despite these obstacles, parents demonstrated resilience and advocated for their children’s needs. Conclusions: This study provides valuable insights into the challenges faced by parents of disabled children in South Korea, emphasizing the need for systemic reforms to foster a more inclusive and supportive environment for these families.
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11. D’Angelo E, Fiori F, Ferraro GA, Tessitore A, Nazzaro L, Serpico R, Contaldo M. Autism Spectrum Disorder, Oral Implications, and Oral Microbiota. Children (Basel);2025 (Mar 15);12(3)
Background/Objectives: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by difficulties in social interaction, communication, and repetitive behaviors. Recent evidence indicates a significant relationship between ASD and imbalances in microbiota, particularly in the oral and gastrointestinal areas. This review examines the impact of oral microbiota, self-injurious behaviors (SIB), sensory sensitivity, and dietary choices on the comorbidities associated with ASD. Methods: An extensive literature review was conducted using PubMed and Scopus. The focus was on human studies with full-text availability, utilizing search terms related to ASD, oral health, oral microbiota, and neurodevelopmental disorders. The research was evaluated for methodological quality and its relevance to the connections between microbiota, oral health, and ASD. Results: Individuals with ASD face unique oral health challenges, including injuries from self-injurious behaviors and increased sensory sensitivity, which complicate oral hygiene and care. Selective eating can lead to nutritional deficiencies and worsen oral health issues. Dysbiosis in oral and gut microbiota, marked by altered levels of acetate, propionate, and butyrate, interferes with gut-brain and oral-brain connections, contributing to behavioral and neurological symptoms. Treatment options such as probiotics, fecal microbiota transfer, and sensory integration therapies can potentially alleviate symptoms and improve quality of life. Conclusions: The relationship between ASD, oral health, and microbiota suggests a bidirectional influence through neuroinflammatory mechanisms and metabolic disturbances. Proactive strategies focusing on microbiota and dental health may help reduce comorbidities and enhance the overall management of ASD, underscoring the need for further research into microbiota-host interactions and their therapeutic potential.
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12. De Luca M, Ilardi CR, Dolce P, Rega A, Di Fuccio R, Rubinacci F, Gallucci M, Marangolo P. Using Tangible User Interfaces (TUIs): Preliminary Evidence on Memory and Comprehension Skills in Children with Autism Spectrum Disorder. Behav Sci (Basel);2025 (Feb 25);15(3)
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition involving persistent challenges with social communication, as well as memory and language comprehension difficulties. This study investigated the effects of a storytelling paradigm on language comprehension and memory skills in children with ASD. A traditional approach, using an illustrated book to deliver the narrative, was compared to a novel paradigm based on Tangible User Interfaces (TUIs) combined with multisensory stimulation. A group of 28 children (ages between 6 and 10 years old) was asked to listen to a story over four weeks, two times a week, in two different experimental conditions. The experimental group (n =14) engaged with the story using TUIs, while the control group (n =14) interacted with a corresponding illustrated book. Pre- and post-intervention assessments were conducted using NEPSY-II subtests on language comprehension and memory. At the end of the intervention, a trend of improved performance was found. In particular, a greater number of subjects benefited from the intervention in the experimental group compared with the control group in instruction comprehension and narrative memory-cued recall. These preliminary findings suggest that TUIs may enhance learning outcomes for children with ASD, warranting further investigation into their potential benefits.
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13. Del Casale A, Shehu D, Rossi-Espagnet MC, Zocchi C, Bilotta I, Arena JF, Alcibiade A, Adriani B, Longo D, Gandolfo C, Romano A, Ferracuti S, Bozzao A, Napolitano A. Multimodal Morphometric Similarity Network Analysis of Autism Spectrum Disorder. Brain Sci;2025 (Feb 26);15(3)
Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by persistent difficulties in social interaction, communication, and repetitive behaviors. Neuroimaging studies have revealed structural and functional neural changes in individuals with ASD compared to healthy subjects. Objectives: This study aimed to investigate brain network structural connectivity in ASD using Morphometric Similarity Network (MSN) analysis. Methods: Data from the Autism Brain Imaging Data Exchange (ABIDE) were analyzed, comprising 597 individuals with ASD and 644 healthy controls. Structural connectivity was assessed using cortical morphometric features. Global and regional network indices, including the density index, node degree, node strength, and clustering coefficients, were evaluated. Results: Among the global network indices, when using a threshold value of 0.4, ASD patients compared to HCs showed a lower density (p = 0.041) and higher negative clustering (p = 0.0051) coefficients. For regional network indices, ASD patients showed a lower bilateral superior frontal cortices degree (left hemisphere: p = 0.014; right hemisphere: p = 0.0038) and strength (left: p = 0.017; right: p = 0.018). Additionally, they showed higher negative clustering coefficients in the bilateral superior frontal cortices (left, p = 0.0088; right, p = 0.0056) and bilateral pars orbitalis (left, p = 0.016; right, p = 0.0006), as well as lower positive clustering in the bilateral frontal pole (left, p = 0.03; right, p = 0.044). Conclusions: These findings highlight significant alterations in both global and regional brain network organization in ASD, which may contribute to the disorder’s cognitive and behavioral manifestations. Future studies are needed to investigate the pathophysiological mechanisms underlying these structural connectivity changes, to inform the development of more targeted and individualized therapeutic interventions for individuals with ASD.
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14. Dominguez-Alonso S, Tubío-Fungueiriño M, González-Peñas J, Fernández-Prieto M, Parellada M, Arango C, Carracedo A, Rodriguez-Fontenla C. Alternative splicing analysis in a Spanish ASD (Autism Spectrum Disorders) cohort: in silico prediction and characterization. Sci Rep;2025 (Mar 28);15(1):10730.
Autism Spectrum Disorders (ASD) are complex and genetically heterogeneous neurodevelopmental conditions. Although alternative splicing (AS) has emerged as a potential contributor to ASD pathogenesis, its role in large-scale genomic studies has remained relatively unexplored. In this comprehensive study, we utilized computational tools to identify, predict, and validate splicing variants within a Spanish ASD cohort (360 trios), shedding light on their potential contributions to the disorder. We utilized SpliceAI, a newly developed machine-learning tool, to identify high-confidence splicing variants in the Spanish ASD cohort and applied a stringent threshold (Δ ≥ 0.8) to ensure robust confidence in the predictions. The in silico validation was then conducted using SpliceVault, which provided compelling evidence of the predicted splicing effects, using 335,663 reference RNA-sequencing (RNA-seq) datasets from GTEx v8 and the sequence read archive (SRA). Furthermore, ABSplice was employed for additional orthogonal in silico confirmation and to elucidate the tissue-specific impacts of the splicing variants. Notably, our analysis suggested the contribution of splicing variants within CACNA1I, CBLB, CLTB, DLGAP1, DVL3, KIAA0513, OFD1, PKD1, SLC13A3, and SCN2A. Complementary datasets, including more than 42,000 ASD cases, were employed for gene validation and gene ontology (GO) analysis. These analyses revealed potential tissue-specific effects of the splicing variants, particularly in adipose tissue, testis, and the brain. These findings suggest the involvement of these tissues in ASD etiology, which opens up new avenues for further functional testing. Enrichments in molecular functions and biological processes imply the presence of separate pathways and mechanisms involved in the progression of the disorder, thereby distinguishing splicing genes from other ASD-related genes. Notably, splicing genes appear to be predominantly associated with synaptic organization and transmission, in contrast to non-splicing genes (i.e., genes harboring de novo and inherited coding variants not predicted to alter splicing), which have been mainly implicated in chromatin remodeling processes. In conclusion, this study advances our comprehension of the role of AS in ASD and calls for further investigations, including in vitro validation and integration with multi-omics data, to elucidate the functional roles of the highlighted genes and the intricate interplay of the splicing process with other regulatory mechanisms and tissues in ASD.
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15. Fukushima Y, Yajima Y, Moriyama M. Stigmatizing attitudes toward autistic students: A cross-sectional vignette survey among Japanese university students. Jpn J Nurs Sci;2025 (Apr);22(2):e70008.
AIM: Stigmatizing attitudes toward autistic students can negatively impact their mental health and social connections. This study examined Japanese university students’ attitudes toward autistic students. METHODS: A cross-sectional vignette study was conducted with 845 Japanese university students. Participants were presented with one of four vignettes depicting an autistic student in a university classroom, based on a 2 (behavior types: disruptive vs. withdrawn) × 2 (autism diagnosis disclosure: open vs. closed) design. Stigmatizing attitudes were measured using a social distance scale. Stigma levels were analyzed using analysis of covariance with multiple independent variables: behavior type, autism diagnosis disclosure, and their interaction terms. RESULTS: Of the 845 participants (response rate: 55.5%), 626 completed the survey and were included in the analysis. Disruptive autism-related behaviors elicited significantly greater stigma than did withdrawn behaviors (p < .01). Those exposed to open autism diagnosis disclosure exhibited greater social distance than did those exposed to closed vignettes (p < .01). No significant interaction effect was observed. These associations remained significant even after controlling participants' knowledge of autism. CONCLUSION: This finding indicates that autism diagnosis disclosure could unintentionally strengthen negative stereotypes and increase stigma.
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16. Gunderson J, Worthley E, Byiers B, Merbler A, Huebner A, Hofschulte D, Lee J, Riodique C, Symons F. Modifying quantitative sensory testing to investigate tactile sensory function and behavioral reactivity in children with intellectual and developmental disabilities: establishing feasibility and testing sex, autism, and self-injury effects. J Neurodev Disord;2025 (Mar 27);17(1):15.
BACKGROUND: Sensory reactivity differences are common across neurodevelopmental disorders (NDDs), however very few studies specifically examine tactile or pain responses in children with NNDs, especially those with communication challenges. The current study aimed to (a) replicate the feasibility of a modified quantitative sensory test (mQST) with a sample of children with NDDs, (b) assess validity evidence based on behavioral reactivity during mQST application and the corresponding behavioral measurement coding system, and (c) explore group differences in behavioral reactivity to mQST stimuli by demographic (sex), clinical (autism status), and behavioral pathology (self-injury) variables. METHODS: The mQST protocol was implemented and blindly coded across 47 participants aged 2-12 years (M age = 6.7 years, SD = 2.6; 70% male) with NDDs. Feasibility was measured by completion of the mQST protocol and interobserver agreement. Validity was assessed using paired t-tests investigating differences between behavioral reactivity to active stimuli compared to a sham trial. Boxplots were used to visually explore differences in group characteristics (sex, autism status, and self-injurious behavior), with two-sample t-tests used to further characterize differences in SIB group characteristics in behavioral reactivity to mQST stimuli. RESULTS: The mQST provided codable data across 91% of stimuli applications with high IOA (84.7% [76.7-95%]). Behavioral reactivity was significantly higher for active vs. sham stimuli. Children reported to engage in self-injurious behavior showed significantly more reactivity to the second half of the repeated von Frey stimulus application compared to children without caregiver-reported self-injurious behavior (M = 6.14, SD = 3.44), t (40)= -2.247, p =.04). CONCLUSION: The mQST is a feasible approach to investigate tactile reactivity in children with NDDs and complex communication needs. The mQST may be useful in understanding sensory variables in relation to developmental and behavioral outcomes such as self-injurious behavior.
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17. Hand BN, Gilmore D, DeVassie H, Longo A, Juckett L, Hanks C, Havercamp SM, Coury D. Development of PREPARE for Autistic Adults: An Adult Autism Training for Resident Physicians Designed with Autistic Adults and Family Members. Autism Adulthood;2025 (Feb);7(1):112-120.
One barrier to meeting autistic adults’ health care needs is the dearth of physicians with autism training. We developed an adult autism training for residents, who are postdoctoral physicians training to become specialists, in internal medicine or family medicine. We used formative evaluation to design the training with autistic adults and family members of autistic adults, who were paid consultants. The training includes six prerecorded presentations, six case studies, and two standardized patient scenarios. We conducted focus groups and interviews with 23 residents and 14 faculty who educate residents. We described the curriculum, reviewed the content in one module, and obtained feedback on maximizing feasibility and scalability. Using semantic-level inductive rapid qualitative analysis we identified three themes and two subthemes. First, « flexibility is key » described ways to increase flexibility to accommodate resident and faculty schedules across programs. Second, « time is the most valuable asset » described the need to minimize duration and maximize impact. Third, « buy-in is necessary » described ways to increase buy-in from residents and residency leadership. Two subthemes, « we don’t talk much about neurodivergence » and « this content applies to all patients, » describe how to increase buy-in by highlighting how this training fills a gap in resident education and can be generalized to multiple populations. Results highlighted ways to modify our training to maximize implementability across different residency programs. Next steps include pilot testing of feasibility, acceptability and effects on resident self-efficacy, attitudes/beliefs, and knowledge. In the long term, we expect this will yield more adult care physicians prepared to meet autistic adults’ needs. Community brief Why was this program developed? Maximizing autistic adults’ physical and mental health is important to autistic adults and their family members. However, too few physicians currently are willing and able to meet autistic adults’ health care needs. Other researchers have found that disability trainings can improve physicians’ self-efficacy in caring for people with disabilities, knowledge about disabilities and evidence-based practices, and willingness to provide care for people with disabilities. Our research team worked with autistic adults and family members of autistic adults to develop a training program for resident physicians, who are postdoctoral physicians training to become specialists in internal medicine or family medicine. What does the program do? The training aims to improve resident physicians’ knowledge, self-efficacy, and attitudes and beliefs about caring for autistic adults. The training includes six prerecorded presentations, six case studies, and two mock clinical scenarios to be portrayed by autistic actors. The training is comprised of six modules: Contextual and conceptual frameworks, Patient-centered care, Clinical assessment, Team-based practice, Care over the lifespan, and Legal obligations. How did the researchers evaluate the new program? We conducted interviews and focus groups with 23 resident physicians and 14 faculty from 11 different resident physician training institutions. We identified changes that would maximize the chance that the training could be used in different residency programs in the future. The interviewer described the training and shared the clinical assessment module with participants. Then, the interviewer asked questions such as “How easy or difficult would it be to incorporate this into your residency program?” and “What would need to change to meet the needs of residents in your program?” What were the early findings? We identified three themes, one with two subthemes. First, “flexibility is key” described ways to accommodate resident and faculty schedules. Second, “time is the most valuable asset” described the need to minimize duration and maximize impact. Third, “buy-in is necessary” described ways to increase interest in delivering or participating in the training from residents and residency leadership. Two subthemes, “we don’t talk much about neurodivergence” and “this content applies to all patients,” describe how to increase buy-in by highlighting how this training fills a gap in resident education and can be generalized across populations. What were the weaknesses of this project? Participants’ feedback was based only on the overview provided by the interviewer and the clinical assessment module, which they reviewed. However, we felt previewing one module was sufficient to provide feedback about the feasibility of incorporating this training in their residency program. What are the next steps? Next, we will test the entire training with a small group of residents at one training institution. We will examine outcomes such as feasibility, acceptability, and appropriateness of the intervention. We will also examine whether residents complete all aspects of the training. This will help us further refine the training before doing a larger-scale trial. How will this study help autistic adults now or in the future? In the long term, we expect this study will increase the number of adult care physicians who are willing and able to provide care for autistic adults. Ultimately, we hope that this will improve autistic adults’ access to high-quality care and, therefore, their health. eng
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18. Heine VM, Dooves S. Neuroglia in autism spectrum disorders. Handb Clin Neurol;2025;210:303-311.
Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication, and repetitive behavior, typically diagnosed during early childhood and attributed to altered neuronal network connectivity. Several genetic and environmental risk factors contribute to ASD, including pre- or early life immune activation, which can trigger microglial and astroglial reactivity, impacting early neurodevelopment. In ASD, astrocytes show altered glutamate metabolism, directly influencing neuronal network activity, while microglia display impaired synaptic pruning, an essential developmental process for the refinement of neuronal connections. Additionally, reduced myelination in specific cortical and subcortical regions may affect brain connectivity in ASD, with white matter integrity correlating with the severity of the disorder, suggesting an important role for oligodendrocytes and myelin in ASD. This chapter provides an overview of current literature on the role of neuroglia cells in ASD, with a focus on immune activation, glutamate signaling, synaptic pruning, and myelination.
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19. Ijichi S, Ijichi N, Sakuma M, Yokoyama D, Hayashi T, Hirota T, King BH. Overlap of genetic factors among craniosynostosis and autism spectrum disorder: the presence of autistic cases without craniosynostosis in carriers of shared variants. J Neurosurg Pediatr;2025 (Mar 28):1-10.
OBJECTIVE: A significant overlap of the risk genes respectively listed for craniosynostosis and autism was recently demonstrated in each case series. The purposes of this article were to review the clinical manifestations systemically in previously reported individual cases with the shared variants and to confirm the pleiotropic associations between genotype and phenotype. METHODS: The risk genes or loci were retrieved from the PubMed database (last searched March 2024) as genetic factors for which genotype-phenotype associations were reported in at least 2 different individuals. Clinical details were reviewed in cases with shared genetic factors between craniosynostosis and autism spectrum disorder. In the genotype-phenotype association of syndromic craniosynostosis genes, both syndromic involvement of autistic traits and nonsyndromic autism cases with nonsyndromic variants in the flanking regions of the syndromic mutations were included. RESULTS: Nonsyndromic craniosynostosis and autism are both underpinned by complex polygenic networks that include multiple risk genes or loci, and a considerable part of the networks might overlap. Although nonsyndromic mild trigonocephaly and autism might be closely associated in carriers of the shared variants, the presence of cases with autism without mild trigonocephaly was confirmed in a PJA1 variant case. As one of the characteristics of epistasis, ethnic specificity has been demonstrated in the interactions between SMAD6 and BMP2 variants. The presence of autism cases without craniosynostosis on a shared genetic basis was also confirmed in syndromic craniosynostosis risk genes and loci, suggesting that the causal relationship from craniosynostosis to autism is unnecessary for the development of autism spectrum disorder. CONCLUSIONS: Regarding the 3 possibilities of the association between craniosynostosis and neurodevelopmental comorbidities proposed by Kapp-Simon’s group, only the independent pathway theory can explain the genotype-phenotype findings. There is no causal relationship between craniosynostosis and autism spectrum disorder in the independent pathway theory. Because the mechanical hindrance of brain expansion from poor compliance of the affected cranial vault is less likely in mild craniosynostosis cases, surgical indication of cranioplasty for mild trigonocephaly should never be confused with that of overt craniosynostosis. If there is no cosmetic indication for the metopic ridge in mild trigonocephaly cases with developmental comorbidities, there is no reason for surgical intervention.
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20. Justus SA, Pogue EM, Simanovich V. Pre-K-12 Teachers’ Views on ASD+ADHD: Prevalence Estimates and Teaching Preparedness. Children (Basel);2025 (Mar 9);12(3)
BACKGROUND/OBJECTIVES: Teachers play a significant role in the identification and intervention of neurodevelopmental disorders such as ASD and ADHD. However, their perceptions of ASD+ADHD comorbidity remain underexplored. This study investigates teachers’ estimates of ASD+ADHD prevalence and their perceived preparedness to teach students with co-occurring diagnoses, exploring key predictors of both outcomes. METHODS: Pre-K-12 teachers (N = 199) completed demographic questions and four additional questionnaires assessing ASD- and ADHD-specific knowledge, neurodiversity attitudes and overall teaching self-efficacy. Participants estimated the prevalence of ASD+ADHD comorbidity and rated their preparedness to instruct students with ASD+ADHD, ASD-only, and ADHD-only. Regression analyses examined factors predicting prevalence estimates and preparedness. RESULTS: Teachers underestimated the lifetime prevalence of ASD+ADHD, though current prevalence estimates were more aligned with meta-analytic findings. Personal experience and current teaching of comorbid students predicted higher prevalence estimates, whereas greater ASD knowledge was associated with lower estimates. Preparedness to teach ASD+ADHD was rated lower than for ASD-only or ADHD-only students. Self-efficacy, neurodiversity attitudes, and professional training were predictors of preparedness. Current teaching of comorbid students, disorder-specific knowledge, and total years of teaching experience showed inconsistent associations across conditions. CONCLUSIONS: Findings suggest that while direct experience and training enhance both awareness and preparedness, disorder-specific knowledge alone does not consistently translate to confidence in supporting students with co-occurring diagnoses. Implications for teacher training and the need for comorbidity-focused professional development are discussed.
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21. Kam CW, Dumelie JG, Ciceri G, Yang WY, Disney MD, Studer L, Jaffrey SR. Sustained Epigenetic Reactivation in Fragile X Neurons with an RNA-Binding Small Molecule. Genes (Basel);2025 (Feb 25);16(3)
BACKGROUND/OBJECTIVES: Fragile X syndrome (FXS) is a disease of pathologic epigenetic silencing induced by RNA. In FXS, an expanded CGG repeat tract in the FMR1 gene induces epigenetic silencing during embryogenesis. FMR1 silencing can be reversed with 5-aza-deoxyctidine (5-aza-dC), a nonspecific epigenetic reactivator; however, continuous administration of 5-aza-dC is problematic due to its toxicity. We describe an approach to restore FMR1 expression in FXS neurons by transient treatment with 5-aza-dC, followed by treatment with 2HE-5NMe, which binds the CGG repeat expansion in the FMR1 mRNA and could block the resilencing of the FMR1 gene after withdrawal of 5-aza-dC. METHODS: This study uses immunofluorescence and fluorescent in situ hybridization (FISH) to measure whether FMR1 expression is maintained in FXS post-mitotic neurons treated with 2HE-5NMe. Genome-wide profiling of histone marks was used to monitor epigenetic changes and drug selectivity in response to 5-aza-dC followed by 2HE-5NMe treatment. Changes to dendritic morphology were visualized using confocal microscopy. RESULTS: In this study, we find that 2HE-5Nme maintains FMR1 in a reactivated state after reactivation using 5-aza-dC in post-mitotic neurons. FMR1 reactivation in neurons results in the re-expression of FMRP and reversal of FXS-associated dendritic spine defects. CONCLUSIONS: These results demonstrate that an RNA-binding small molecule can achieve gene-specific epigenetic control and provide an approach for the restoration of FMRP in FXS neurons.
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22. Kan DDD, Lee CL, Poon KLK. Health-related quality of life of children with developmental disabilities in Singapore and associated factors: A broad-based examination. Res Dev Disabil;2025 (Mar 26);161:104997.
The study investigates the health-related quality of life (HRQoL) of elementary-aged children with developmental disabilities in Singapore, focusing on the influences of individual and family factors. Data from 113 students from special education schools was examined, with data collected from parents, teachers, and direct assessments of the children. The Pediatric Quality of Life Inventory (PedsQL) was used to measure HRQoL across four domains: physical, emotional, social, and school functioning. Results showed that children with developmental disabilities generally experience lower HRQoL compared to typically developing peers, with the social functioning domain presenting the greatest challenges. Executive functioning difficulties emerged as the most significant predictor of overall HRQoL, affecting all domains, particularly social and school functioning. Parental psychological well-being was also significantly associated with children’s emotional functioning, highlighting the broader influence of family factors on children’s well-being. This study contributes to the literature by examining a broad-based sample in a multicultural Asian context. Results underscores the importance of addressing both child-specific challenges, such as executive functioning, and family-centered interventions to improve parental mental wellbeing. In the pursuit of positive quality of life for children with developmental disabilities across multiple domains, this study’s findings highlight the need for a multi-component approach. Limitations and future directions, including the use of proxy reports and the need for culturally relevant interventions, are discussed.
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23. Kang J, Hao P, Gu H, Liu Y, Li X, Geng X. Transcranial Direct Current Stimulation Can Modulate Brain Complexity and Connectivity in Children with Autism Spectrum Disorder: Insights from Entropy Analysis. Bioengineering (Basel);2025 (Mar 12);12(3)
The core characteristics of autism spectrum disorder (ASD) are atypical neurodevelopmental disorders. Transcranial direct current stimulation (tDCS), as a non-invasive brain stimulation technique, has been applied in the treatment of various neurodevelopmental disorders. Entropy analysis methods can quantitatively describe the complexity of EEG signals and information transfer. This study recruited 24 children with ASD and 24 age- and gender-matched typically developing (TD) children, using multiple entropy methods to analyze differences in brain complexity and effective connectivity between the two groups. Furthermore, this study explored the regulatory effect of tDCS on brain complexity and effective connectivity in children with ASD. The results showed that children with ASD had lower brain complexity, with excessive effective connectivity in the δ, θ, and α frequency bands and insufficient effective connectivity in the β frequency band. After tDCS intervention, the brain complexity of children with ASD significantly increased, while effective connectivity in the δ and θ frequency bands significantly decreased. The results from behavioral-scale assessments also indicated positive behavioral changes. These findings suggest that tDCS may improve brain function in children with ASD by regulating brain complexity and effective connectivity, leading to behavioral improvements, and they provide new perspectives and directions for intervention research in ASD.
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24. Kang J, Mao W, Wu J, Geng X, Li X. TDCS Modulates Brain Functional Networks in Children with Autism Spectrum Disorder: A Resting-State EEG Study. J Integr Neurosci;2025 (Mar 18);24(3):27314.
OBJECTIVE: This study aimed to investigate the effects of transcranial direct current stimulation (tDCS) on brain functional networks in children with autism spectrum disorder (ASD). METHODS: We constructed brain functional networks using phase-locking value (PLV) and assessed the temporal variability of these networks using fuzzy entropy. Graph theory was applied to analyze network characteristics. Resting-state electroencephalography (EEG) data were used to compare differences in brain functional connectivity, temporal variability, and network properties between children with ASD and typically developing (TD) children. Additionally, we examined the changes in functional connectivity, temporal variability, and network properties in children with ASD after 20 sessions of tDCS intervention. RESULTS: The study revealed that children with ASD exhibited lower connectivity in the alpha band and higher connectivity in the beta band. In the delta and theta bands, ASD children demonstrated a mixed pattern of both higher and lower connectivity. Furthermore, ASD children exhibited higher temporal variability across all four frequency bands, particularly in the delta and beta bands. After tDCS intervention, the total score of the Autism Behavior Checklist (ABC) significantly decreased. Additionally, functional connectivity in the delta and alpha bands increased, while temporal variability in the delta and beta bands decreased, indicating positive changes in brain network characteristics. CONCLUSION: These results suggest that tDCS may be a promising intervention for modulating brain functional networks in children with ASD. CLINICAL TRIAL REGISTRATION: ChiCTR2400092790. Registered 22 November, 2024, https://www.chictr.org.cn/showproj.html?proj=249950.
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25. Kaymak A, Diken IH, Mahoney G. The Effectiveness of the Turkish Version of the Responsive Teaching Program Applied as an Online Group Intervention on Autistic Children and Their Fathers: A Randomized Control Study. Behav Sci (Basel);2025 (Mar 5);15(3)
The purpose of this study was to explore the effectiveness of the Turkish Version of the Responsive Teaching program applied as an online group intervention on autistic children and their fathers. In this study, conducted with pre-test-post-test control group experimental design, 20 father-child pairs were randomly assigned to the experimental and control groups. This study’s independent variable was the implementation of the Turkish Version of the Responsive Teaching (TV-RT) program (TV-RT) applied as an online group intervention. The dependent variables of this study were (a) fathers’ interactional behaviors, (b) fathers’ ability to use TV-RT strategies, (c) children’s interactional behaviors, (d) children’s ability to use TV-RT pivotal behaviors, (e) children’s social interaction behaviors (typical social interaction and autistic interaction), and (f) the opinions of the fathers and mothers of the children in the experimental group about the program and results. Data were collected with the Turkish Version of the Maternal/Parent Behavior Rating Scale (M/PBRS-TV) to measure fathers’ interactional behaviors; the Responsive Teaching-Parent Strategy Profile (RT-PSP) to measure fathers’ level of use of the TV-RT strategies; the Turkish Version of the Child Behavior Rating Scale (CBRS-TV) to measure children’s interactional behaviors; the Responsive Teaching-Pivotal Behavior Profile (RT-PBP) to measure children’s level of displaying TV-RT pivotal behaviors; and the Turkish Version of the Social Interaction Assessment Instrument (SIAI-TV) to measure children’s social interaction behaviors (typical social interaction and autistic interaction). In addition, social validity data were collected from the fathers and mothers in the experimental group through satisfaction questionnaires. Results revealed that the fathers of autistic children who received the intervention differed significantly on the use of TV-RT strategies and the quality of interactional behaviors from the fathers who did not receive the intervention. On the other side, autistic children in the experimental group showed significant progress on interactional behaviors, TV-RT pivotal behaviors, and social interaction behaviors and improved changes on autistic interaction behaviors. Fathers who participated in the online group TV-RT program, and their wives (mothers) as outside observers, reported high satisfaction with the program. Results were discussed extensively, and future suggestions are provided.
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26. Kouklari EC, Tagkouli E, Ntre V, Pehlivanidis A, Tsermentseli S, Stefanis NC, Pantelis C, Papanikolaou K. Hot and Cool Executive Function in Children with Autism Spectrum Disorder and Schizotypal Traits. Brain Sci;2025 (Mar 6);15(3)
Background: Schizotypal traits are notably prevalent among children diagnosed with Autism spectrum disorder (ASD). Both conditions commonly exhibit impairments in executive functions (EF), which encompass cool and hot processes. The observed deficits in these EF domains across ASD and schizotypy underscore a compelling need to investigate how their co-occurrence impacts EF. Methods: This study investigated the impact of co-occurring autistic and schizotypal traits on EF in 63 children diagnosed with ASD, aged 7 to 12 years. Participants were assessed using the Autism Diagnostic Observation Schedule-2 (ADOS-2), the Melbourne Assessment of Schizotypy in Kids (MASK), and a battery of hot and cool EF tests. Results: Correlational analyses revealed a significant association between MASK score and working memory, as well as between ADOS scores and various cool EF components (i.e., working memory, inhibition and planning). Hierarchical regression analyses showed that the interaction between ADOS and MASK scores significantly predicted performance on hot EF (i.e., affective decision-making), but not on cool EF tasks. Conclusions: These findings suggest that the co-occurrence of ASD and schizotypal traits may have differential effects on cool and hot EF domains. Understanding how the combination of autistic and schizotypal traits affects cognitive processes may inform tailored interventions and support strategies for individuals presenting with these traits.
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27. Kurnaz E. Effectiveness of Video Self-Modeling in Teaching Unplugged Coding Skills to Children with Autism Spectrum Disorders. Behav Sci (Basel);2025 (Feb 26);15(3)
This study examined the effectiveness of video self-modeling in teaching unplugged coding skills to children with autism spectrum disorder (ASD). The participants included one female and three male children with ASD, ages 10 to 12, in a multiple-probe design across subjects. The findings demonstrated that video self-modeling successfully facilitated the acquisition of unplugged coding skills for all four students. Additionally, all participants could generalize these skills to a new setting, and for those assessed, the skills were maintained for up to 12 weeks after the intervention. Social validity data collected from participants and their parents indicated positive perceptions of the approach. This study’s results highlight implications for instructional practices and future research.
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28. Li Y, Wang Q, Yuan S, Lam TK, Guo K, Zhang YQ, Yi L. Reduced attention to human eyes in autism-associated Shank3 mutant laboratory beagle dogs. Mol Psychiatry;2025 (Mar 27)
Autistic individuals often exhibit reduced attention to faces and eyes, which may underlie their social difficulty. This study used eye-tracking techniques to explore visual attention towards faces in Shank3 mutant laboratory beagle dogs, a model for autism, to identify parallels with human autism. We first assessed visual attention differences towards the eyes between Shank3 mutant and wild-type (WT) laboratory beagles by presenting them with human and dog face images. Then, using the gaze cueing paradigm, we directed the dogs’ gaze towards the eyes and mouth and quantified their gaze shifts. Finally, we investigated the impact of oxytocin on eye-gaze behavior by comparing gaze patterns under pre-administration, vehicle, and oxytocin conditions while viewing human faces. We found that mutant dogs showed a reduced proportional viewing time of human eyes than WT dogs (p = 0.032), but no difference in proportional eye viewing time when viewing dog faces (p = 0.691). Mutant dogs shifted their gazes away from the human eyes more quickly than the mouth (p = 0.043), unlike WT dogs (p = 0.345), suggesting an active eye avoidance. Furthermore, exogenous oxytocin increased proportional viewing time on human eyes in mutant dogs than pre-administration and vehicle conditions (p = 0.022), suggesting a potential effect of oxytocin on social attention in autism. To our knowledge, this study is the first to report an eye avoidance phenotype in an animal model of autism. These findings contribute to our understanding of the mechanisms underlying social difficulties in autism and the development of supporting strategies for autism.
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29. Long RM. Access Points: Understanding Special Interests Through Autistic Narratives. Autism Adulthood;2025 (Feb);7(1):100-111.
BACKGROUND: Although autistic people have shared how important their interests can be, sometimes using the phrase « special interests, » autistic interests are commonly pathologized. Research has begun to recognize the benefits of special interests for autistic people. These benefits are often investigated primarily in childhood and in relation to neuronormative aims. In addition, existing research leaves the definition of « special interests » unquestioned. This study adds to the literature by examining not only what autistic adults mean by « special interests, » but how they explain why these interests matter. METHODS: The researcher interviewed 15 adult autistic advocates in the United States about their « special interests » to understand what this term meant to them based on their own life experiences. Through critical qualitative analysis of interview transcripts, including iterative inductive-deductive coding, hierarchical code organization, and positional mapping, the researcher looked for similarities and differences in how participants conceptualized special interests. RESULTS: Participants used three different narrative strategies to describe special interests and their importance: explaining the amount of time spent on the interest, discussing how they experience the interest, and comparing special interests with other types of interests. Autistic people said that their interests mattered to them personally, as well as helped them communicate and connect with others. Participants also shared that it was important for non-autistic people to know about why special interests matter to autistic people and create a more accepting society. CONCLUSIONS: The concept of « special interests » meant different things to the autistic people in this study. Even so, participants saw special interests as generally important and an aspect of their lives that should be societally supported. The narratives of special interests collected in this project challenge stereotypes of autistic people as disconnected and asocial. Instead, this study demonstrated how special interests take on increased individual and societal importance for autistic people. Community brief Why is this an important issue? Autistic people’s interests are commonly seen as wrong or unimportant. Yet, some autistic people have written about how important their interests are, sometimes using the phrase “special interests.” Not all autistic people like this term. However, better understanding how autistic people relate to their interests can show how autistic people lead meaningful lives. This can challenge stigmatizing views of autistic people. What was the purpose of this study? The purpose of this study was to understand what autistic people mean by “special interests” and to understand how these interests are important to autistic people. What did the researcher do? The autistic researcher interviewed 15 autistic activists in the United States about their special interests. The researcher was particularly interested in how autistic people described their special interests and why these were important. Then, the researcher looked at what autistic people shared during these interviews. When analyzing interviews, the researcher looked for similarities and differences in what people shared. What were the results of the study? This study showed that autistic people might understand special interests in different ways. Participants used three different strategies to define special interests: Duration (describing the amount of time spent on an interest)Experience (describing how they experience the interest)Comparison (describing how special interests were different from other types of interests). These different ways of describing special interests meant that special interests were generally important to participants. Participants said that special interests supported well-being and social connection. Participants wanted society to better understand and accept special interests. Participants had different perspectives about the term “special interests,” but the majority thought that it was at least somewhat useful for communicating about their experiences. What do these findings add to what was already known? These findings add to the study of autistic interests in adulthood. Most studies of autistic people’s interests look at how these interests can help autistic children and young adults achieve neurotypical social norms. This study looked at why special interests were important to autistic adults based on their own lives, not what other people desired for them. Also, past research assumes that autistic people have a similar definition of special interests, which this study shows is not the case. What are potential weaknesses in the study? This study looked at the experiences of a small group of autistic people who are involved in autistic advocacy. It is likely that other autistic people would have different opinions than those represented in the study. How will these findings help autistic adults now or in the future? These findings highlight and affirm the experiences of autistic adults. This article shares what participants wanted other people to know about special interests. Knowing what autistic adults mean by “special interests” and how important these can be may help practitioners and others who support autistic people. These findings may help society become more accepting of autistic people. eng
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30. Narita H, Natsume J, Suzuki T, Shiohama T, Kawaguchi M, Okazaki M, Hashizume A, Naganawa S, Ito Y, Yamamoto H, Nakata T, Kidokoro H, Takahashi Y, Takahashi S, Tsujimura K. Diffuse but Non-homogeneous Brain Atrophy: Identification of Specific Brain Regions and Their Correlation with Clinical Severity in Rett Syndrome. Brain Dev;2025 (Mar 26);47(3):104348.
BACKGROUND: Rett syndrome is a genetic neurodevelopmental disorder that predominantly affects girls. While microcephaly is a common feature, there is limited information on the detailed structural changes in the brain. This study aimed to identify regional brain volume abnormalities and explore the correlation between brain volume and clinical characteristics. METHODS: We compared the regional brain volumes of 20 female children with Rett syndrome to those of 25 healthy female children. Additionally, we assessed the correlation between regional brain volume, Clinical Severity Scores, and epilepsy status. RESULTS: Significantly smaller volumes were observed in all brain regions, including the cerebral cortex, cerebral white matter, subcortical gray matter, cerebellum, and brainstem. Within the cortical regions, volume reduction was prominent in the left precentral, right lateral occipital, left precuneus, left inferior parietal, and right medial orbitofrontal cortices. After correcting for intracranial volumes, volume reduction was more prominent in the cerebral cortices than in the cerebral white matter. Small volumes were consistently observed, regardless of age. Negative correlations were observed between the volumes of multiple regions and the Clinical Severity Scores. There were no correlations among regional brain volume, seizure control, or duration of epilepsy. CONCLUSION: The mechanism underlying the cortical-dominant volume reduction remains unclear; however, it may be caused by altered synapse development associated with methyl-CpG-binding protein 2 gene abnormalities. Characteristic impairments in visual recognition and deterioration of motor function in Rett syndrome may be associated with significant volume reduction in specific cortical regions, such as the lateral occipital cortex, precuneus, and precentral gyrus.
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31. Narzisi A, Busuoli EM, Fabbri-Destro M, Pinzino M, Calderoni S, Tancredi R, Lombardo MV, Masi G. Exploring autistic traits in parents of autistic children: a pilot study on the broader autism phenotype. Front Psychiatry;2025;16:1537487.
BACKGROUND: Biological parents of autistic children often exhibit characteristics associated with the broader autism phenotype (BAP), a subclinical expression of autism-related traits. While BAP traits are known to be prevalent among first-degree relatives of autistic individuals, the relationship between parental traits and children’s characteristics remains under-explored. OBJECTIVES: This pilot study examines the presence and extent of BAP traits in an Italian sample of both biological mothers and fathers of autistic children, exploring also the correlations between parental BAP traits and children’s autistic traits. METHODS: Seventy-six autistic children (ages 4-11) and their biological parents were recruited for the study. Parental and child traits were evaluated using the Autism Quotient (AQ) and the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). RESULTS: Of the recruited sample of parents, 29% fell within the BAP, with 12% of fathers and 17% of mothers meeting the criteria. A significant difference was found in AQ scores between fathers and mothers, with fathers scoring higher on average. Fathers’ AQ scores were significantly correlated with their children’s AQ scores, while no significant correlation was observed between mothers’ AQ scores and children’s scores. Additionally, children’s AQ scores correlated significantly with all Vineland Adaptive Behavior Scale (VABS) subscales but not with ADOS scores. CONCLUSIONS: This study highlights the significance of parental BAP traits in relation to autism characteristics in children. The findings suggest that paternal BAP traits, in particular, may have a stronger association with child characteristics. Understanding these associations may contribute to refining psycho-educational strategies tailored to the specific traits of parents, ultimately enhancing intervention approaches.
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32. Nayyar JM, Stapleton AV, Guerin S, O’Connor C. Exploring Lived Experiences of Receiving a Diagnosis of Autism in Adulthood: A Systematic Review. Autism Adulthood;2025 (Feb);7(1):1-12.
BACKGROUND: Growing numbers of adults are seeking and receiving autism diagnoses. This systematic review collates, evaluates, and synthesizes evidence on the lived experiences of receiving a diagnosis of autism in adulthood. METHODS: A keyword-search was performed on six databases, with results systematically screened to identify relevant studies. Data extracted from the studies were analyzed using thematic synthesis. RESULTS: Initial searches produced 12,785 articles, 26 of which were included and subjected to thematic synthesis. We identified two meta-themes: Constantly Struggling, related to (1) events that prompted diagnosis, (2) struggling to get a diagnosis, (3) haphazard supports, (4) costs of a late diagnosis, and (5) stigma; and Revelation, involving (1) emotional reactions to diagnosis, and (2) forging an autistic identity. DISCUSSION: While diagnosis can grant understanding, acceptance, and community, autistic adults continue to struggle with stigma, regret, and inadequate support post-diagnosis. Understanding the first-person perspectives of those who have acquired an autism diagnosis in adulthood is vital in developing sensitive and effective assessment and support services for adults. Community brief Why is this an important issue? Growing numbers of people are seeking and receiving autism diagnoses as adults. Understanding their first-hand experiences before, during, and after diagnosis is key to developing high-quality assessment and support services. What was the purpose of this review? This review aimed at bringing together and synthesizing previous research that has explored how adults experience acquiring an autism diagnosis. What did the researchers do? The researchers conducted electronic keyword-searches of six academic databases. This identified a large number of studies that were potentially relevant to the review. Through a structured screening process, the researchers ultimately found 26 studies containing data on lived experience of autism diagnosis. These were analyzed to identify key areas of commonality and difference. What were the results of the review? The review suggested that experiences of adult autism diagnosis showed two overarching themes. First, autistic adults who participated in these research studies reported their experiences of “constantly struggling,” which involved a discussion of difficulties related to (1) events that prompted diagnosis, (2) struggling to get a diagnosis, (3) haphazard supports, (4) costs of a late diagnosis, and (5) stigma. Second, autistic adults saw the receipt of their diagnosis as a “revelation,” describing their (1) emotional reactions to diagnosis, and how it set them on a path to (2) forging an autistic identity. What do these findings add to what was already known? The review brings together previously disconnected studies, to highlight the strength of evidence showing the psychological, social, and emotional complexities involved in acquiring an autism diagnosis in adulthood. What are potential weaknesses in the review? For practical reasons, the review had to set certain limitations in the body of literature it could consider, for example, only English-language publications that were available in electronic journal articles. This might have meant that certain relevant findings were overlooked. How will these findings help autistic adults now or in the future? This review provides a valuable resource for adults considering pursuing a diagnosis, alerting them to the potential challenges and benefits they can expect. The results of the review can also be used by health care professionals and policy-makers involved in designing or delivering adult autism diagnosis, to ensure services are sensitive to the concerns of autistic adults themselves. eng
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33. Pandey R, Bhushan B. Facial Expression Databases and Autism Spectrum Disorder: A Scoping Review. Autism Res;2025 (Mar 28)
Emotion recognition (ER) deficit in autism spectrum disorder (ASD) is widely accepted, and a variety of research was done to assess the deficit in ER under various conditions and intervention research to augment emotion recognition in mostly children with ASD. This scoping review attempted to summarize the diverse research in the context of ER in ASD with a focus on the facial expression databases used for research and intervention. PRISMA-ScR guidelines were followed, and 80 studies were selected after a search from electronic research databases like Web of Science and PubMed with predefined inclusion and exclusion criteria. The trends indicate a small sample size with mostly children as a sample and the ASD group with their matched counterparts. The results show mixed findings; the majority of work indicates a deficit in facial emotion recognition in ASD, but under certain stimuli and conditions, ASD performs well in facial emotion recognition. The interventions showed promising results with increased ER ability in children with ASD. The review also focused on the moderating factors in the study of ER, such as age, IQ, comorbidity, task paradigm, and cultural factors. A small subset of facial expression databases was widely used in the research and intervention, and it has been developed and validated in Western countries. Research gaps were highlighted, and recommendations for future directions were mentioned.
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34. Poulsen R, Tan DW, Sowman PF, McAlpine D, Pellicano E. Auditory environments influence the link between Autistic traits and quality of life. Sci Rep;2025 (Mar 27);15(1):10612.
Autistic people often report a heightened sensitivity to sound. Yet, research into Autistic people’s auditory environments and their impacts on quality of life is limited. We conducted an online survey to understand how auditory environments influence the relationships between Autistic traits and impacts on quality of life (iQoL) due to sound sensitivity. We also sought to determine strategies that Autistic people use to navigate auditory sensitivities in daily life.296 Autistic adults (58.4% women, 15.9% men, 24.3% non-binary +) aged 18-71 years completed the survey comprising a questionnaire with bespoke items measuring auditory experiences in different environments (e.g., noisy vs. quiet) and measures of Autistic traits and iQoL. Our path analyses revealed a significant indirect effect of aversive auditory environments on the relationships between all domains of Autistic traits and iQoL. Notably, the association between non-verbal social communication trait and iQoL was fully mediated by all forms of auditory environments. Additionally, most (n = 217, 73.5%) Autistic participants reported using earplugs and headphones to manage their sound environments in everyday life. Our study demonstrates that many aspects of auditory environments-beyond noise alone-can negatively impact Autistic people’s QoL. Addressing barriers created by auditory environments through accommodations should improve QoL for Autistic people.
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35. Prisco D, Friedman ZL, Ochoa J, Nuesi T, Guarino C, Cheuvront B, Higgins P, Centi D. Piloting Therapeutic Drumming with Autistic Children: Effectiveness and Feasibility. Occup Ther Health Care;2025 (Mar 28):1-17.
This study measured the effectiveness and feasibility of therapeutic drumming for autistic children, targeting the meaningful occupational components of authentic social and personal participation of children. A 6-week therapeutic drumming intervention was implemented interprofessionally in two early-childhood classrooms with ten autistic children (N = 10), ages two through six. Two outcome measures were completed pre- and post-intervention: the Behavior Assessment System for Children, Third Edition (BASC-3), the Social and Personal Relationship Scale (SPRS). Descriptive statistics on pre- and post-intervention mean scores were generated and Wilcoxon signed rank tests were used to determine the areas where mean score changes were statistically significant. Significant differences were found between each component of the SPRS, and on two BASC-3 subsections (e.g. response to teacher, transition movement). Misalignment between language on the BASC-3 and neurodiversity affirming practice was identified as a notable limitation of the study. Feedback collected from lead facilitators regarding efficacy and implementation feasibility was collected via interview following the program. The implication of this pilot study provides preliminary evidence supporting the effectiveness and feasibility of therapeutic drumming, which must be further explored.
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36. Salehi M, Jaka S, Lotfi A, Ahmad A, Saeidi M, Gunturu S. Prevalence, Socio-Demographic Characteristics, and Co-Morbidities of Autism Spectrum Disorder in US Children: Insights from the 2020-2021 National Survey of Children’s Health. Children (Basel);2025 (Feb 27);12(3)
BACKGROUND: The primary goal of our study is to assess the national US prevalence of autism spectrum disorder (ASD), along with its socio-demographic characteristics, severity, and co-occurring medical and psychiatric disorders, using data from the 2020-2021 National Survey of Children’s Health (NSCH). METHODS: We analyzed 2020-2021 NSCH data to estimate the prevalence of ever-diagnosed and current ASD among 79,182 children and adolescents (3-17 years). Univariate and multivariate regression models were used to examine associations between medical and psychiatric co-morbidities, socio-demographic factors, and ASD severity. RESULTS: Adolescents (11-17 years) and males were more likely to have ASD, with males comprising 78.7% of the ASD group. The mean age of the sample was 10.1 ± 4.6 years, and 3.2% had an ASD diagnosis. Children from lower-income households and those with caregivers who completed only a high school education were more likely to have ASD. Nearly 96.4% of children with ASD had at least one co-morbid condition. The most common neuropsychiatric co-morbidities were developmental delay (64%), behavioral and conduct problems (57.8%), and anxiety disorder (45.7%), while the most common medical conditions were allergies (32.4%), genetic disorders (26.2%), and asthma (12.6%). Gender disparities in ASD presentation were evident that females with ASD were more likely to experience vision problems, cerebral palsy, epilepsy, depression, and intellectual disability but had lower odds of ADHD and anxiety problems. Greater ASD severity was linked to higher odds of intellectual disability (OR: 5.8, p < 0.001), developmental delay (OR: 5.0, p < 0.001), epilepsy, Down syndrome (OR: 3.4, p < 0.001), vision problems (OR: 2.5, p < 0.001), and genetic disorders (OR: 2.3, p < 0.001). CONCLUSIONS: This study provides updated prevalence estimates of ASD and highlights the high burden of co-morbidities, emphasizing the need for comprehensive, multidisciplinary approaches in ASD management. Additionally, our findings emphasize gender differences in ASD presentation, which should be considered in future research and clinical practice to ensure more tailored diagnostic and intervention strategies.
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37. Stanley J, Rabot E, Reddy S, Belilovsky E, Mottron L, Bzdok D. Large language models deconstruct the clinical intuition behind diagnosing autism. Cell;2025 (Mar 24)
Efforts to use genome-wide assays or brain scans to diagnose autism have seen diminishing returns. Yet the clinical intuition of healthcare professionals, based on longstanding first-hand experience, remains the gold standard for diagnosis of autism. We leveraged deep learning to deconstruct and interrogate the logic of expert clinician intuition from clinical reports to inform our understanding of autism. After pre-training on hundreds of millions of general sentences, we finessed large language models (LLMs) on >4,000 free-form health records from healthcare professionals to distinguish confirmed versus suspected autism cases. By introducing an explainability strategy, our extended language model architecture could pin down the most salient single sentences in what drives clinical thinking toward correct diagnoses. Our framework flagged the most autism-critical DSM-5 criteria to be stereotyped repetitive behaviors, special interests, and perception-based behaviors, which challenges today’s focus on deficits in social interplay, suggesting necessary revision of long-trusted diagnostic criteria in gold-standard instruments.
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38. Suswaram S, Muller K. Motor-Communication Skill Link in Minimally Speaking Children on the Autism Spectrum from the U.S. and India. Autism Res;2025 (Mar 28)
We aimed to examine the interrelations between motor and communication skills, as well as associations between motor skill subdomains and different communicative functions in minimally speaking children on the autism spectrum, whereas accounting for the child’s age, country of residence, educational setting, and communication modalities (covariates). Data from 67 minimally speaking children on the autism spectrum (ages 4-9) from India and the U.S. were analyzed. Motor and communication skills were assessed using the Vineland Adaptive Behavior Scales-Third Edition and the Communication Matrix. Linear regression was used to examine associations between communication and motor skills, and partial correlations were conducted to explore relations between motor skill subdomains and communicative functions. Motor skills were significantly associated with communication skills, independent of covariates. Significant relations were also observed between both motor skill subdomains and refusal functions, as well as between gross motor skills and the obtain function. No significant associations were found between social or information functions and any motor skill subdomain, independent of covariates. The findings underscore the complex and interrelated nature of motor and communication skills. Consideration of both motor and communication skills in intervention approaches may provide insights into ways to support communication development in minimally speaking children on the autism spectrum.
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39. Tamura M, Cage E, Perry E, Hongo M, Takahashi T, Seto M, Shimizu E, Oshima F. Understanding Camouflaging, Stigma, and Mental Health for Autistic People in Japan. Autism Adulthood;2025 (Feb);7(1):52-65.
BACKGROUND: Camouflaging refers to behaviors in which autistic individuals mask their autistic characteristics and « pass » as non-autistic people. It is postulated that camouflaging is a response to stigma, and preliminary evidence supports this hypothesis. However, research on this topic outside of Western countries is limited. This study replicated and extended previous work in the West that examined the relationships between camouflaging, stigma, and mental health of autistic adults, with a Japanese sample. METHODS: Two-hundred eighty-seven autistic people living in Japan (146 men, 120 women, 14 nonbinary, 5 other gender identities, 2 preferred not to say; mean age = 37.5 years, standard deviation = 9.8 years) completed an online survey on camouflaging, perceived stigma, coping strategies for stigma, mental well-being, generalized anxiety, social anxiety, and depression. We used hierarchical multiple regression analyses to investigate the relationships between camouflaging and stigma and coping strategies for stigma. Mediation analyses were also employed to examine whether camouflaging mediated the relationships between stigma and autistic people’s mental health. RESULTS: Replicating previous work, we found that higher camouflaging was associated with higher perceived stigma. Both coping strategies of hiding/denying and valuing/embracing stigmatized characteristics were positively related to camouflaging. Camouflaging mediated the association of stigma with depression, generalized anxiety, and social anxiety (but not well-being). CONCLUSIONS: Our findings support the hypothesis that camouflaging is closely related to autism-related stigma and can influence the impact of stigma on mental health. More work around social outreach and addressing autism-related stigma would be beneficial to reduce the negative role of camouflaging. Community brief Why is this an important issue? Social camouflaging is a behavior through which autistic individuals mask their autistic characteristics to “pass” as non-autistic people. While camouflaging can help autistic individuals adapt to a non-autistic society, it is also associated with fatigue, depression, and anxiety. In 2021, Perry et al. surveyed 223 autistic adults residing primarily in Western countries and suggested that camouflaging might be a strategy to avoid stigma against autism, which can impact their mental health. However, whether their findings are cross-cultural is unclear. What was the purpose of this study? This study examined whether the results of Perry et al. are applicable to autistic people in Japan. We examined the relationships between camouflaging, stigma, and the mental health of autistic people. What did the researchers do? We surveyed 287 autistic adults residing in Japan on perceived stigma, camouflaging, mental health, and their coping strategies for managing stigma. We compared our findings with those of Perry et al. What were the results of the study? (1)The higher the perceived stigma, the higher the extent of camouflaging.(2)Autistic people who try to distance themselves from the autistic community are likely to camouflage. Those with stronger autistic identity and stronger pride in the autistic community are also likely to camouflage.(3)Higher perceived stigma can contribute to higher degrees of depression, generalized anxiety, and social anxiety among autistic individuals, in part because higher stigma is associated with higher degree of camouflaging. Stigma was also associated with poor mental well-being, but camouflaging has limited roles in it.What do these findings add to what was already known? (1)Camouflaging is closely related to stigma against autism, much like in the Perry et al.’s study. There was no significant cross-cultural difference in the degree of influence of stigma on camouflaging.(2)Similar to individuals residing in Western countries, both people who hide/deny their autistic characteristics and who value/embrace their characteristics are likely to camouflage. Regardless of how autistic people perceive their identity, they might have no choice but to continue camouflaging if they feel stigmatized.(3)Camouflaging may play an important role in explaining the relationship between stigma, depression, and generalized and social anxiety. However, these relationships warrant further investigation.What are potential weaknesses in the study? (1)Compared with the general autistic population, participants could have differed in terms of gender, age, and education. Whether our findings apply to all autistic people is unclear.(2)This study surveyed autistic people only once. Therefore, we could not show whether stigma directly triggers camouflaging.(3)The reliability of the questionnaires quantifying the levels of stigma, coping strategies, and autistic characteristics was questionable.(4)This study did not consider the motives, contexts, and the consequences of camouflaging. The impacts of camouflaging could differ depending on these factors.How will these findings help autistic adults now or in the future? These findings highlight the importance in reducing stigma against autism and creating an environment in which autistic people can openly reveal their identity. eng
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40. Teoh Y, Garg P, Karyadiguna N, Vivekanandarajah S, So L, Hurwitz R, Raman S. Caregiver experiences of accessing a child developmental assessment service in a culturally diverse population in Australia: a mixed methods study. BMJ Paediatr Open;2025 (Mar 28);9(1)
BACKGROUND: While there is a high level of concern among parents about waiting for child developmental services, there is limited research on caregiver perspectives on accessing public developmental diagnostic services, especially for families from culturally diverse backgrounds. We aimed to explore caregiver perspectives and satisfaction after attending a Child Developmental Assessment Service (CDAS) appointment for their child in South Western Sydney, as part of a large quality improvement project. METHODS: Over a 6-month period between June and December 2022, we surveyed caregivers after their child’s first CDAS appointment, using an adapted caregiver questionnaire that contained Likert scale and free-text responses. We analysed the data using simple descriptive and thematic data analysis. RESULTS: Of 107 caregiver satisfaction questionnaires completed, almost two-thirds (63%) were from culturally and linguistically diverse backgrounds. Over 90% caregivers reported a satisfaction response of ‘Agree’ to ‘Strongly Agree’, 88% felt that the assessment was suitable to their child’s needs and 85% considered waiting times reasonable. The mean overall caregiver satisfaction score was 4.5 (SD 1.1). About 30% of families had doubts about their child’s neurodevelopmental diagnosis. The themes identified from free-text responses were (1) positive caregiver experience; (2) clinician attributes; (3) quality of the service delivery; (4) information received. Caregivers expressed very high levels of satisfaction with the quality of service and clinicians’ skills, appreciated enhanced understanding of their child’s development and found the assessment helpful. CONCLUSIONS: Our study showed surprisingly high levels of caregiver satisfaction in attending a neurodevelopmental assessment service, in a culturally diverse metropolitan setting. Our findings support the importance of providing interpersonal sensitivity and family-centred practice for children with neurodevelopmental difficulties. We need to respond to the families who disagreed with the diagnostic formulation or were dissatisfied with the service, to improve the service quality, using longitudinal evaluation and more in-depth qualitative analysis.
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41. VanDaalen RA, Dillon FR, Santos CE, Capielo Rosario C. Development and Initial Validation of the Autism and Neurodiversity Attitudes Scale. Autism Adulthood;2025 (Feb);7(1):39-51.
BACKGROUND: Drawn from aspects of the autistic self-advocacy movement, the neurodiversity movement is a conceptual framework and sociopolitical movement that views neurological differences and disabilities (e.g., autism) as natural human variations that can form a central component of one’s identity. This study presents the development and validation of a scale to assess endorsement of neurodiversity beliefs with respect to autism among both autistic and nonautistic adults. METHODS: Diverse samples of adults were utilized to conduct exploratory (N = 249) and confirmatory (N = 259) factor analyses, resulting in a 17-item second-order three-factor model that demonstrated adequate evidence of reliability and validity. RESULTS: The three factors consisted of Autism Anti-Stigma, Autism Permanence, and Autism as Difference. Additional analyses of measurement validity revealed that endorsement of the neurodiversity framework is positively correlated with sociopolitical engagement, and that endorsement of the neurodiversity framework is negatively correlated with negative attitudes toward people with disabilities. Self-identified autistic adults endorsed the neurodiversity framework to a greater extent than nonautistic adults. CONCLUSION: The validity results are congruent with the historical roots of the neurodiversity movement and the attitudes endorsed by many autistic adults. Given the factor structure and reliability results, researchers can use this scale to assess neurodiversity-affirming attitudes as a unitary construct or can use the anti-stigma subscale to assess stigma-related attitudes toward autism. This scale has utility for researchers that seek to understand and promote well-being in autistic adults, as well as research related to potential support systems in the lives of autistic adults. It can also be used to increase self-understanding among autistic individuals and allies, as this scale can be used for both autistic and nonautistic adults. Community brief What was the purpose of this study? The purpose of this study was to make a questionnaire. Future researchers can use this questionnaire to see how much a person agrees with the neurodiversity view of autism. Both autistic adults and nonautistic adults will be able to use this questionnaire. What did the researchers do? There were several steps. First, we read about neurodiversity from autistic self-advocates and researchers. Then, we made a list of sentences that someone who agrees with the neurodiversity movement would also agree with. These would be our questionnaire items. Next, we asked academic and autistic experts to review our items. After that, we sent an online survey to 502 U.S.-based adults with these items and some other questions. We carefully studied their data. What were the results of this study? The final version of our questionnaire has 17 items with 3 categories. One category is Autism Anti-Stigma. People who agreed with these items were less likely to have negative feelings toward autism or autistic people. The second category was Autism Permanence. People who agreed with these questions believed that autism is a permanent part of a person’s identity. The third category was Autism as Difference. People who agreed with these questions believed that autism is not a bad thing or an illness. In general, people who agreed with the neurodiversity view of autism were less likely to have negative feelings toward people with disabilities in general and more likely to do activism to help people. Autistic people were more likely than nonautistic people to agree with the neurodiversity view of autism. What are the potential weaknesses of this study? The neurodiversity movement is bigger than just autism, but this questionnaire only looks at autism. We cannot use this questionnaire to see whether people agree with the neurodiversity view of other conditions, such as attention-deficit/hyperactivity disorder or learning disabilities. Another weakness is that the reliability of some of the subcategories was low. This means that when researchers use the questionnaire, they should only look at the overall score or the score for just the Autism Anti-Stigma subcategory. The scores for the Autism as Difference and Autism Permanence subcategories will not make much sense by themselves. How will these findings help autistic adults? The neurodiversity view of autism may help autistic people’s mental health. However, researchers cannot study this if there is not a questionnaire. This new questionnaire can help researchers study this topic, as well as many other important topics, to improve autistic adults’ mental health. eng
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42. Wu CS, Tsai HJ, Chien YL, Gau SS. All-Cause Mortality and Specific Causes of Death in Autism: A Nationwide Analysis. Autism Adulthood;2025 (Feb);7(1):81-92.
BACKGROUND: Western studies have reported a higher mortality risk in autistic individuals. However, the specific causes of death and the roles of age, sex, and concurrent intellectual disability (ID) remain unclear. This study aimed to analyze the causes of death in autism and the moderating effects of age, sex, and concurrent ID. METHODS: This nationwide population-based study, conducted between 2008 and 2019, identified 64,685 autistic individuals and were age and sex matched with 1,279,174 nonautistic controls. All-cause mortality and specific causes of death were compared between autistic and nonautistic controls. The modifying effects of age, sex, and concurrent ID were also examined. RESULTS: The risk of all-cause mortality (hazard ratio = 2.28) is higher in autistic individuals than in nonautistic controls. The elevated all-cause mortality in autistic individuals was consistent across sex, age, and the presence or absence of ID and was higher in autistic women, adults, and those with concurrent ID than in their counterparts. The mortality risks for most examined specific causes, except cancer, are higher in the autistic group than those in nonautistic controls. Although autistic individuals with concurrent ID showed higher mortality risks in neurological, respiratory, and gastrointestinal categories and accidents, the risk of suicide is lower. Autistic women had higher mortality risks in most categories, whereas autistic adults had a higher mortality risk in the neurological and respiratory categories. CONCLUSION: Autistic individuals face higher mortality risks across various disease categories, regardless of sex, age, or concurrent ID. Health care policies should prioritize the implementation of specific strategies for the early detection of diseases and health promotion, as well as accident and suicide prevention among autistic women and those without ID. Clinical Trial Registration number: NCT04010422. Community brief Why is this an important issue? Mortality risk in autism is a crucial concern because it affects the well-being and health of autistic individuals. Recent studies in Western countries have shown that autistic individuals may face a higher risk of premature death, but the reasons behind this are unclear. Understanding the causes of death and the factors that influence it, such as age, sex, and concurrent intellectual disability, can help develop targeted strategies to improve the health and longevity of autistic individuals. What was the purpose of this study? The researchers wanted to investigate the mortality risk of autism and understand the factors that might contribute to it. They examined the specific causes of death in autistic individuals and compared them with nonautistic individuals. They also examined how age, sex, and concurrent intellectual disability might influence the mortality risk. What did the researchers do? The researchers conducted a large-scale study using nationwide data from 64,685 autistic individuals from 2008 to 2019. They matched these individuals with 1,279,174 nonautistic individuals of the same age and sex. By comparing the two groups, they analyzed the overall risk of death and the specific causes of death. They also studied how age, sex, and the presence or absence of intellectual disability affected the mortality risk. What were the results of the study? The study found that autistic individuals had a higher risk of death from any cause (all-cause mortality) than nonautistic individuals. This risk was consistent across all ages, sexes, and whether they had concurrent intellectual disability. The most common specific causes of death in autistic individuals were related to cardiovascular, respiratory, accidents, and neurological disorders. What do these findings add to what was already known? This study adds to previous knowledge by confirming that there is indeed a higher mortality risk in autism, regardless of age, sex, or intellectual disability. It highlights specific causes of death, such as cardiovascular and respiratory conditions, where the risk is particularly elevated. In addition, it reveals that accident and suicide prevention should be a priority, especially for autistic females and individuals without intellectual disability. What are potential weaknesses in the study? While the study provided valuable insights, there might be some limitations. For instance, the data were based on claims and might not capture all the relevant information about the individuals’ health and lifestyle factors. In addition, the study might not have considered all the possible variables that could influence mortality risk in autism. How will these findings help autistic adults now or in the future? These findings are essential for the well-being of autistic individuals and their families. Policymakers and health care providers can use this knowledge to develop targeted strategies to reduce mortality risk in autism. By focusing on accident and suicide prevention, particularly for females and those without intellectual disability, health care policies can improve the overall health and life expectancy of autistic individuals. In addition, the study emphasizes the need for better health care services and support for autistic individuals, ensuring that their unique needs are addressed throughout their lives. Ultimately, this research contributes to a better understanding of autism and helps create a more inclusive and supportive society for all individuals on the spectrum. eng
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43. Xing C, Yu X. Oxytocin and autism: Insights from clinical trials and animal models. Curr Opin Neurobiol;2025 (Mar 28);92:103015.
Autism spectrum disorder is a highly heritable and heterogeneous neurodevelopmental disorder, characterized by impaired social interactions and repetitive behaviors. Despite its complex etiology, increasing evidence has linked autism to the oxytocin system. The oxytocin peptide has long been known as the « social hormone, » and has been shown to increase attention to social cues, elevate salience of socially relevant stimuli, and increase learning and reward in social situations. Reduced oxytocin levels and mutations in the oxytocin system have been reported in autism patients, while exogenously delivered oxytocin has been shown to alleviate social interaction deficits in both patients and animal models. Here, we summarize the results of recent clinical trials using oxytocin nasal spray to treat individuals with autism, as well as studies of autism animal models with oxytocin system deficits, and the rescue of their social behavior deficits by oxytocin. Finally, we discuss factors influencing clinical outcomes and reflect on future directions.
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44. Yang JQ, Wang C, Nayak RC, Kolla M, Cai M, Pujato M, Zheng Y, Lu QR, Guo F. Genetic and epigenetic regulation of Treg cell fitness by autism-related chromatin remodeler CHD8. Cell Mol Biol Lett;2025 (Mar 28);30(1):36.
BACKGROUND: Chromatin remodeler chromodomain helicase DNA-binding protein 8 (CHD8) defines a subtype of autism that is associated with immune disorders. It remains unknown whether CHD8 plays a cell-intrinsic role in immune cells such as regulatory T cells (Tregs) that maintain immune tolerance through suppressing CD4(+) and CD8(+) effector T cells. METHODS: Treg-specific conditional CHD8-deficient mice were generated by crossing Chd8(Flox/Flox) mice with Foxp3(YFP-cre) transgenic mice. Effects of CHD8 deficiency were investigated using hematoxylin and eosin (H&E) staining, flow cytometry, and multi-omics, including RNA-sequencing (RNA-seq), assay for transposase-accessible chromatin sequencing (ATAC-seq), and chromatin immunoprecipitation sequencing (CHIP-seq). RESULTS: We found that Treg-specific CHD8 deletion led to early, fatal inflammation owing to increased CD4(+) and CD8(+) effector T cells. CHD8 deletion did not alter Treg homeostasis but increased their functional plasticity with elevated expression of effector T cell cytokines. CHIP-seq of Tregs uncovered that CHD8 binding genes were enriched in phosphatidylinositol-3 kinase (PI3K)-protein kinase B (Akt)-mammalian target of rapamycin (mTOR) signaling and several other pathways. RNA-seq and ATAC-seq revealed that CHD8 deletion upregulated a number of pathways, notably mammalian target of rapamycin complex 1 (mTORC1) signaling and its mediated glycolysis that have been reported to promote Treg plasticity. Integrating RNA-seq data with CHIP-seq and ATAC-seq data identified a number of CHD8 target genes whose expression depends on CHD8 direct binding-mediated chromatin remodeling. CONCLUSIONS: Our findings suggest that CHD8 plays an important role in maintaining Treg fitness through genetic and epigenetic mechanisms to control autoimmunity, which may have important implications in immune changes in autism.
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45. Zhou X, Xia X, Li L, Ye Y, Chen Q, Ke M, Cui Q, He Y, Chen Y, Lin S, Liu W, Wang J. Evaluation of Heavy Metals and Essential Minerals in the Hair of Children with Autism Spectrum Disorder and Their Association with Symptom Severity. Biol Trace Elem Res;2025 (Mar 28)
The exact cause of Autism spectrum disorder (ASD) remains unclear. The accumulation of heavy metals and the imbalance of trace elements are believed to play a key role in the pathogenesis of ASD. This study aimed to compare the levels of trace elements and heavy metals in the hair of 1-16-year-old children with varying ASD severity. We included a control group of 57 children, as well as 124 children with autism, consisting of 53 with mild to moderate autism and 71 with severe autism. Questionnaires and hair samples were collected, and 21 chemical elements were analyzed using inductively coupled plasma mass spectrometry (ICP-MS). Children with severe autism showed significantly higher levels of the trace elements copper (Cu) and heavy metals vanadium (V), cobalt (Co), nickel (Ni), arsenic (As), cadmium (Cd), and lead (Pb) in their bodies compared to the control group. Boys with severe autism showed significantly higher levels of Cu, As, Cd, and Pb compared to the control group, while girls with severe autism exhibited significantly lower levels of potassium (K) and increased levels of Pb. Severely autistic children under 7 years old had significantly increased levels of Mn, Cu, V, Co, Ni, As, Cd, and Pb. Children with severe autism aged 7-16 years typically showed significantly higher levels of Cu and As. These findings underscore the importance of heavy metals and essential minerals as environmental factors in the severity of ASD disease.