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19 pages, 702 KB  
Article
Linking Auditory Brainstem Neural Stability to Parent-Reported Autistic Traits in School-Age Children
by Devon Pacheco Major, Emily Cary, Erin Matsuba, Natalie Russo and Beth Prieve
Brain Sci. 2026, 16(5), 535; https://doi.org/10.3390/brainsci16050535 - 19 May 2026
Abstract
Background: Neural stability, defined as trial-by-trial fluctuations in neural responses to the repetitive sensory input, is an indicator of neural processing stability. The auditory brainstem response (ABR) can provide an electrophysiological measure of neural stability. Findings on neural stability differences between autistic and [...] Read more.
Background: Neural stability, defined as trial-by-trial fluctuations in neural responses to the repetitive sensory input, is an indicator of neural processing stability. The auditory brainstem response (ABR) can provide an electrophysiological measure of neural stability. Findings on neural stability differences between autistic and neurotypical individuals are inconsistent, potentially due to methodological differences and sample heterogeneity. This study aimed to investigate the relationship between neural stability in the brainstem and autistic traits in a group of children with and without a diagnosis of autism. We examined whether the degree of neural stability differs based on the evoking stimulus and response component analyzed, and whether neural stability relates to parent-reported autistic traits, as measured by the Autism Spectrum Quotient (AQ) and social responsiveness scale-2 (SRS-2). Methods: In total, 41 participants had usable click ABRs and 34 had usable sABRs. Neural stability was quantified using Pearson correlation analyses between binaurally evoked subaverage ABR waveforms. Parent-reported measures of autistic traits were collected. Results: Neural stability differed across ABR components, with the click ABR being significantly more stable than sABR components. Decreased neural stability is significantly related to autistic traits measured by the AQ but not the SRS-2. There was no significant response component by AQ interaction. Conclusions: Neural stability in the auditory brainstem pathway is linked to individual differences in autistic traits measured by the AQ but not the SRS, implying that early sensory processing neural stability may be related to broader features of autistic traits rather than social communication alone. Full article
(This article belongs to the Special Issue Rethinking Neurodevelopmental Disorders: Beyond One-Size-Fits-All)
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16 pages, 892 KB  
Article
Turn-Taking Transitions in Conversations Among Autistic–Autistic, Non-Autistic–Non-Autistic, and Mixed-Neurotype Adult Pairs
by Zahra Poursoroush, Eugene H. Buder and Morgan Jameson
Behav. Sci. 2026, 16(5), 677; https://doi.org/10.3390/bs16050677 - 29 Apr 2026
Viewed by 242
Abstract
Background: The Double Empathy Theory proposes that communication difficulties between autistic and non-autistic individuals arise from mutual misunderstandings rather than individual deficits. This study examines how autistic–autistic, non-autistic–non-autistic, and mixed-neurotype adult pairs coordinate conversations. We aimed to determine how neurotype matches or mismatches [...] Read more.
Background: The Double Empathy Theory proposes that communication difficulties between autistic and non-autistic individuals arise from mutual misunderstandings rather than individual deficits. This study examines how autistic–autistic, non-autistic–non-autistic, and mixed-neurotype adult pairs coordinate conversations. We aimed to determine how neurotype matches or mismatches affect the types and durations of turn-taking transitions, backchannels, temporal alignment, and task performance. Methods: Thirty-two autistic and thirty-six non-autistic English-speaking adults were paired into autistic–autistic, non-autistic–non-autistic, or mixed-neurotype dyads. Each pair interacted virtually in a tangram task, alternating roles as describer and selector. A turn-taking coding scheme identified utterance segmentation and conversational events. Results: Turn-exchanges with a gap (perceived silence) were the most frequent transition type across all pairs. Matched autistic pairs produced significantly more gapless transitions than the other dyads. Mixed-neurotype dyads showed significantly longer gap durations between turns than both autistic–autistic and non-autistic–non-autistic dyads. Non-autistic–non-autistic pairs exhibited the highest proportion of backchanneling, while autistic–autistic pairs exhibited the highest proportion of simultaneous talk. Only in non-autistic–non-autistic pairs overlap frequency was associated with reduced rapport. Conclusions: Findings demonstrate distinct patterns in turn-taking dynamics across neurotype pairings, supporting the Double Empathy Theory highlighting the need for neurodiversity-informed rather than deficit-based approaches. Full article
(This article belongs to the Special Issue Language and Cognitive Development in Autism Spectrum Disorders)
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24 pages, 12680 KB  
Article
‘Let Us Be the Art, Not Just the Entertainment’: A Participatory Zine-Making Study Engaging Autistic Women and Non-Binary People in Discussing Media Representations of Autism
by Sarah Dantas, Monique Botha, Catherine Grainger, Eva Rafetseder and Carol Jasper
Societies 2026, 16(5), 145; https://doi.org/10.3390/soc16050145 - 29 Apr 2026
Viewed by 1370
Abstract
Autistic people experience social stigma, which involves facing negative or false social stereotypes. A prevalent stereotype of autism in society is that it is a male condition, which has led to most traditional representations of autism across different types of media (e.g., characters [...] Read more.
Autistic people experience social stigma, which involves facing negative or false social stereotypes. A prevalent stereotype of autism in society is that it is a male condition, which has led to most traditional representations of autism across different types of media (e.g., characters in films and TV) being predominantly male-focused. In this study, a group of autistic women and/or non-binary people were recruited to speak about how they perceived media representations of autism, as their gender identities did not fit this traditional gendered stereotype. Participants shared their experiences through group discussions and a zine-making activity, where they created different forms of artwork that were then compiled into an independent community booklet and displayed in an exhibition in Central Scotland. Participants’ group discussions and descriptions of their artwork were analysed using IPA techniques, yielding two experiential themes. Participants discussed negative experiences with dehumanising media accounts of autism, which displayed autistic people as a stereotypical ‘other’, as well as positive experiences with humanised media accounts, which prioritised autistic lived experience in a more authentic and relatable way. Our findings highlight that the media can positively impact autistic people’s lives when representations centre on autistic lived experience, which fosters connectedness, autonomy, and self-understanding. Alternatively, this impact can be harmful when media accounts are stigmatising and dehumanising, which generates significant material and subjective challenges. Full article
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15 pages, 583 KB  
Article
Evaluating Undergraduate Dental Curricula on Oral Health Care for Autistic Persons in Australia and New Zealand—A Cross-Sectional Study
by Jayne Jones, Dileep Sharma, Kuang-Yin Chu, Elysa Roberts and Deborah Cockrell
Dent. J. 2026, 14(4), 238; https://doi.org/10.3390/dj14040238 - 15 Apr 2026
Viewed by 459
Abstract
Introduction: Persons diagnosed with Autism Spectrum Disorder (ASD) require adaptations to dental care that many undergraduate programmes may not explicitly treat. This cross-sectional pilot study assessed the extent of ASD-related content in Australia and New Zealand (ANZ) dental and oral health curricula [...] Read more.
Introduction: Persons diagnosed with Autism Spectrum Disorder (ASD) require adaptations to dental care that many undergraduate programmes may not explicitly treat. This cross-sectional pilot study assessed the extent of ASD-related content in Australia and New Zealand (ANZ) dental and oral health curricula and explored Oral Health Therapy students’ knowledge and self-efficacy. Methods: Online surveys of academic staff across ANZ programmes and Bachelor of Oral Health Therapy students at the University of Newcastle were conducted. Quantitative data was summarised descriptively, and free text responses underwent thematic analysis. Results: Fifteen educator responses (8% of 178 invitees) suggest limited ASD-specific teaching and minimal use of simulation-based education. Among 38 student responses (from one institution), knowledge was generally foundational, but misconceptions persisted and no respondents reported high confidence in providing oral health care for Autistic patients. Interest in further training was high. Conclusions: Within the constraints of low response rates and a single institution student sample, these preliminary findings suggest opportunities to strengthen Autism-related teaching, particularly sensory adaptations, communication strategies, and experiential learning. Inferences should be considered exploratory and hypothesis generating. Limitations: Low educator responses and potential response bias due to limited external validity from a single student cohort. Full article
(This article belongs to the Special Issue Dental Education: Innovation and Challenge)
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17 pages, 294 KB  
Article
Unheard but Uncompromising: Quiet Politics and Parental Resistance Among Chinese Immigrant Families of Autistic Children in the U.S
by Yue Xu, Liya Lin and Yu-Shiuan Sun
Societies 2026, 16(4), 108; https://doi.org/10.3390/soc16040108 - 26 Mar 2026
Viewed by 719
Abstract
Background: Chinese immigrant families of autistic children in the United States face intersecting barriers related to language, culture, immigration, and fragmented service systems. Yet little is known about how Chinese immigrant parents engage in advocacy or how such efforts relate to disability and [...] Read more.
Background: Chinese immigrant families of autistic children in the United States face intersecting barriers related to language, culture, immigration, and fragmented service systems. Yet little is known about how Chinese immigrant parents engage in advocacy or how such efforts relate to disability and human rights. Methods: This qualitative study draws on in-depth interviews with fourteen Chinese immigrant parents of autistic children across multiple U.S. regions. Data were triangulated with analyses of publicly recorded advocacy events and parent-produced textual materials. Reflexive thematic analysis was used to examine motivations for advocacy, advocacy practices, and structural, linguistic, and cultural constraints. Results: Advocacy rarely emerged as an intentional or identity-driven pursuit. Instead, parents were compelled into advocacy through institutional exclusion, service denial, and unmet care needs. Parents engaged in diverse forms of advocacy, including migration, negotiation within institutions, information translation, community-building, and grassroots organizational leadership. Cultural norms shaped advocacy strategies, producing quiet, relational, and collective forms of action often overlooked in dominant rights-based models. Conclusions: Interpreted through a disability justice lens, parental advocacy functions as burdened and unequally distributed labor compensating for systemic failures. Findings underscore the need for institutional reforms that reduce reliance on families’ capacity to fight for access, dignity, and care. Full article
(This article belongs to the Special Issue Neurodivergence and Human Rights)
20 pages, 2395 KB  
Article
Inference of Autism Risk Genes Through Comparative Sociogenomics and Molecular Network Analysis
by Alice Chiodi, Ettore Mosca, Francesca Anna Cupaioli and Alessandra Mezzelani
Genes 2026, 17(4), 368; https://doi.org/10.3390/genes17040368 - 25 Mar 2026
Viewed by 665
Abstract
Background/Objectives: Comparative sociogenomics combines multiple scientific fields to investigate the genetic basis of social behavior across species. Our aim was to uncover the genetic roots of human sociability with possible implications for autism, a neurodevelopmental disorder characterized by social and communication deficits. Methods: [...] Read more.
Background/Objectives: Comparative sociogenomics combines multiple scientific fields to investigate the genetic basis of social behavior across species. Our aim was to uncover the genetic roots of human sociability with possible implications for autism, a neurodevelopmental disorder characterized by social and communication deficits. Methods: We conducted molecular network analysis on 659 sociability-related genes from different animal species, including humans. Results: We identified a network of 240 genes strongly associated with autism (p < 10−15), with 194 inferred. These genes were grouped into 23 functional communities related to cell–cell junctions and communication, inflammatory and synaptic signaling, neurotransmitter receptors and semaphorin signaling among the more enriched meta-pathways. Some network genes were clustered in nine chromosomal bands (FDR < 0.25), indicating genes’ functional cooperation, shared evolutionary history, and coordinated regulation, and few genes are physically in linkage with ASD genes (within 0.5 cM) or controlled by human-accelerated regions. Conclusions: The most compelling inferred autism risk genes are MED12, FZD9, and DMD since they are differentially expressed in autistic brains, physically linked to key autism genes, controlled by human-accelerated regions, or mapped to chromosomal regions enriched in network genes. If validated, they could represent novel biomarkers, advancing the understanding of autism’s genetic makeup. Full article
(This article belongs to the Special Issue Autism: Genetics, Environment, Pathogenesis, and Treatment)
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15 pages, 503 KB  
Article
Communication Research Priorities for Autism Research: Insights from a Caregiver Survey
by Taylor Huntley and Eileen Haebig
Behav. Sci. 2026, 16(3), 430; https://doi.org/10.3390/bs16030430 - 16 Mar 2026
Viewed by 1028
Abstract
Currently, autism researchers have limited knowledge about stakeholders’ priorities for research. This raises concerns because the autism community has increasingly called for more involvement in research. The present study aimed to provide initial insight into caregiver’s priorities for research that specifically focuses on [...] Read more.
Currently, autism researchers have limited knowledge about stakeholders’ priorities for research. This raises concerns because the autism community has increasingly called for more involvement in research. The present study aimed to provide initial insight into caregiver’s priorities for research that specifically focuses on language and communication in autistic children. Seventy-three caregivers of autistic children completed an online survey with an option to participate in a follow-up feedback session (n = 14). Within the survey, caregivers ranked the importance of 15 communication research topics. Participants also answered questions about barriers and incentives to participating in research. Caregivers highly ranked research that focuses on learning new words, echolalia, and learning to read. Additionally, 87% indicated that they would participate in research that did not involve intervention for their child. The top barrier to participating in autism research was time, and the top incentive was if a study was virtual. Associations between priority rankings and child language skills were also explored. Word learning research was particularly important to caregivers of children who communicated using shorter utterances or through augmentative and alternative communication devices, and research that focused on abstract language was particularly important to parents of autistic children with more advanced language skills. Caregiver feedback sessions provided additional insight into the rankings of research priorities. Caregivers of autistic children value pediatric language and communication research. Many valued research topics aligned with clinical goals in therapy (e.g., learning new words) and skills that highlight less understood learning and communication processes (e.g., echolalia). We discuss how these data can guide researchers as they conduct future autism research. Full article
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14 pages, 448 KB  
Article
Sensory Reactivity in Children Referred for Autism Evaluation: Associations with Autism Symptoms and Adaptive Skills
by Girija Kadlaskar, Stephanie E. King and Jessica R. Stewart
Brain Sci. 2026, 16(3), 310; https://doi.org/10.3390/brainsci16030310 - 14 Mar 2026
Viewed by 1282
Abstract
Background: The present study examines sensory differences in children referred for autism evaluations and explores associations between sensory differences, autism symptomatology, and adaptive skills. Using a clinically referred sample, this study captures the heterogeneity of diverse developmental profiles observed in everyday clinical practice [...] Read more.
Background: The present study examines sensory differences in children referred for autism evaluations and explores associations between sensory differences, autism symptomatology, and adaptive skills. Using a clinically referred sample, this study captures the heterogeneity of diverse developmental profiles observed in everyday clinical practice and provides a nuanced understanding of sensory differences in an ecologically valid way in the context of autism assessments. Methods: Participants included 238 children (41 females/3–14 years), referred to a university-based autism clinic due to concerns related to autism. Autism diagnoses were confirmed using the Autism Diagnostic Observation Schedule-2, DSM-5 criteria, and expert clinical judgement informed by comprehensive multidisciplinary evaluation. Additional measures were collected to obtain information on sensory processing (Sensory Profile-2/SP-2) and adaptive functioning (Vineland-II/-3). Diagnostic outcomes were classified as autism (n = 121) versus non-autism (n = 117). Results: Non-autistic children scored higher than autistic children in sensory avoiding and sensitivity, with no group differences in sensory seeking or registration as measured by the SP-2. Correlational analysis showed negative associations between sensory differences and both autism symptomatology and adaptive functioning. Regression analysis further indicated that higher sensory differences predicted lower adaptive functioning, with sensory sensitivity showing the most widespread associations across communication, daily living skills, and socialization. Conclusions: Non-autistic children exhibited greater sensory avoiding and sensitivity than autistic children, which may possibly reflect co-occurring concerns such as anxiety or attentional difficulties (e.g., avoiding noisy environments due to anxiety rather than sensory sensitivity). Across groups, higher sensory differences showed consistent associations with lower adaptive functioning, highlighting the importance of assessing sensory behaviors in children with diverse clinical profiles. Full article
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22 pages, 327 KB  
Article
From Participants to Community Partners: A Novel Community-Based Participatory Research (CBPR) Approach to Autistic-Led Inquiry in Digital and Virtual Environments
by Vivian Darlene Grillo, Margherita Zani, Vittoria Veronesi and Paola Venuti
Healthcare 2026, 14(6), 702; https://doi.org/10.3390/healthcare14060702 - 10 Mar 2026
Viewed by 752
Abstract
Background/Objectives: Autism research has often interpreted autistic sociality through neurotypical norms, limiting ecological accounts of autistic meaning-making and context-sensitive support needs. Social virtual environments (SVEs), such as VRChat, allow modulation of sensory exposure, social distance, and participation pace, potentially enabling autistic-led interaction [...] Read more.
Background/Objectives: Autism research has often interpreted autistic sociality through neurotypical norms, limiting ecological accounts of autistic meaning-making and context-sensitive support needs. Social virtual environments (SVEs), such as VRChat, allow modulation of sensory exposure, social distance, and participation pace, potentially enabling autistic-led interaction with greater autonomy and predictability. This study examined how autistic young adults co-construct meanings around social interaction, identity, and self-regulation in peer-led discussions within an SVE; identified context-sensitive processes relevant to well-being; and evaluated the feasibility and acceptability of SVEs as a participatory research setting. Methods: Sixteen autistic young adults (18–38 years; DSM-5-TR, Level 1) participated in nine remote sessions conducted in VRChat, coordinated via a co-designed Discord server. The peer-led discussions were audio-video recorded, transcribed, and anonymized. Data were analyzed using reflexive thematic analysis, combining inductive session-level coding, cross-session thematic clustering, and participatory refinement with community partners. Results: Autistic experience was framed as a context-dependent negotiation of interpretive risk, interactional workload, masking-related energy costs, and epistemic injustice, alongside future-oriented accounts emphasizing access, dignity, and systemic redesign. Observational memos documented multimodal participation, distributed peer facilitation, and accessibility-relevant sensitivities to environmental stability. Community partners reported positive experiences and supported the acceptability of private-world VRChat sessions. Conclusions: Peer-led discussions in an SVE can support ecologically grounded, participant-centered qualitative research, offering methodological opportunities to study autistic meaning-making under conditions that reduce demands and risks. Full article
11 pages, 224 KB  
Article
Predictors of Play Development at Home After Parent-Mediated Early Intervention for Autistic Preschool Children
by Ya-Chih Chang, Wendy Shih and Connie Kasari
Behav. Sci. 2026, 16(3), 387; https://doi.org/10.3390/bs16030387 - 8 Mar 2026
Viewed by 570
Abstract
Play is a critical developmental domain linked to social communication, cognitive growth, and later peer relationships; however, young autistic children often demonstrate delays in their play skills, especially higher level play skills (i.e., symbolic play). Although play-based, parent-mediated interventions show promise in improving [...] Read more.
Play is a critical developmental domain linked to social communication, cognitive growth, and later peer relationships; however, young autistic children often demonstrate delays in their play skills, especially higher level play skills (i.e., symbolic play). Although play-based, parent-mediated interventions show promise in improving parent strategies for engaging their children in play, we know less about how these strategies translate to child play improvement outside of the therapeutic sessions. The current study examined the home activities of 97 caregiver–child dyads following their participation in parent-mediated Joint Attention Symbolic Play Engagement Regulation (JASPER), among families in low socioeconomic circumstances. Naturalistic home observations identified the types of daily activities in which the dyads engaged, including play. Within play contexts, children whose caregivers received JASPER demonstrated a greater change from functional to symbolic play compared to those in a parent education control condition. Additionally, child-level, but not family-level, characteristics predicted greater gains in symbolic play. The results provide insight into the ecological validity of parent-mediated, play-based interventions delivered in home settings and highlight factors associated with variability in play outcomes. These findings have implications for tailoring parent-mediated interventions to better support equitable and sustainable developmental gains for autistic children. Full article
16 pages, 225 KB  
Article
Perspectives of Families and Teachers on Sex Education for Students with Autism Spectrum Disorder in Saudi Arabia
by Wejdan T. Albladi, Mona F. Sulaimani and Nizar H. Bagadood
Disabilities 2026, 6(2), 23; https://doi.org/10.3390/disabilities6020023 - 27 Feb 2026
Viewed by 7581
Abstract
Sex education for students with autism spectrum disorder in Saudi Arabia remains limited and underdeveloped, raising concerns related to safety, body awareness, and healthy personal development during the school years. This qualitative study employed semi-structured interviews with four teachers and three family members [...] Read more.
Sex education for students with autism spectrum disorder in Saudi Arabia remains limited and underdeveloped, raising concerns related to safety, body awareness, and healthy personal development during the school years. This qualitative study employed semi-structured interviews with four teachers and three family members and was analyzed using thematic analysis. Participants discussed school-aged autistic children educated in mainstream inclusive settings alongside peers with diverse learning profiles. All students referenced were verbally communicative, and some were reported to have co-occurring developmental or behavioral conditions. The findings revealed key challenges, including heightened vulnerability to harassment, limited understanding of bodily boundaries, and difficulties related to personal hygiene and privacy. Participants also identified substantial gaps in existing curricula, inconsistent teacher preparation, and limited access to guidance for families, resulting in fragmented approaches to sex education. The findings highlight the urgent need for culturally responsive, developmentally appropriate sex education curricula, targeted professional development for teachers and families, and strengthened collaboration between home and school. Such efforts are essential to promote safety, well-being, and protection for autistic students within the Saudi educational context. Full article
17 pages, 470 KB  
Article
“There’s No Life School”—Inclusive School Supports for Autistic School Leavers: A Self-Determination Theory Perspective
by Danielle Tracey, Nicole Sharp, Simone Nash and Caroline Mills
Educ. Sci. 2026, 16(2), 329; https://doi.org/10.3390/educsci16020329 - 18 Feb 2026
Viewed by 796
Abstract
Autistic people experience lower rates of employment, education, and participation, and the identification of autistic people is growing rapidly with improved early identification, increased community awareness, and improved identification in previously under-diagnosed populations. Although inclusive education policies and practices present an opportunity to [...] Read more.
Autistic people experience lower rates of employment, education, and participation, and the identification of autistic people is growing rapidly with improved early identification, increased community awareness, and improved identification in previously under-diagnosed populations. Although inclusive education policies and practices present an opportunity to bolster the transition into adulthood for autistic young people, there is little mandate around these processes and supports. This qualitative study gathered the perspectives of people with direct experience of mainstream school transition supports through 46 interviews with autistic young people, educators, and parents/carers. The participants’ narratives were interpreted through the lens of self-determination theory to understand how inclusive schools can best fulfil autistic young peoples’ needs for competence, autonomy, and relatedness. The findings enable recommendations for inclusive school practice and supports, informed by the stories of those who have experience with the phenomenon. Full article
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22 pages, 1218 KB  
Article
Topic Modeling of Social Media Discourse of Autism Support Groups
by Yu Deng, Lei Yang and Juanjuan Chen
Behav. Sci. 2026, 16(2), 280; https://doi.org/10.3390/bs16020280 - 15 Feb 2026
Viewed by 654
Abstract
Social media platforms serve as critical channels for autism support groups to communicate and seek assistance. This study employed Latent Dirichlet Allocation (LDA) topic modeling to analyze discourse patterns within the Autism Bar on Baidu Tieba, a major Chinese social media. A dataset [...] Read more.
Social media platforms serve as critical channels for autism support groups to communicate and seek assistance. This study employed Latent Dirichlet Allocation (LDA) topic modeling to analyze discourse patterns within the Autism Bar on Baidu Tieba, a major Chinese social media. A dataset of 14,151 posts was collected through web crawling, with 12,667 posts retained after preprocessing. The analysis revealed two key findings: (1) The discourse among autism support communities on Baidu Tieba focuses on four central themes: intervention and therapy, early educational journey, early symptom detection and family interaction, and access to educational resources and community support. (2) Sociocultural factors exert a significant influence on autism-related discourse, particularly in shaping societal attitudes toward individuals with autism and the formation of support networks. Traditional Chinese cultural values, such as collectivism and familial centrality, impact the behavioral patterns and decision-making processes of families with autistic children. This study has demonstrated the unique needs and challenges faced by the autism support community, while also informing strategies to promote social media platforms as spaces for support and information exchange. The findings have practical implications for designing targeted interventions and support mechanisms for individuals with autism and their families. Full article
(This article belongs to the Section Educational Psychology)
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24 pages, 1111 KB  
Systematic Review
Assortative Mating and Increase in Prevalence and Severity of Autistic Spectrum Disorder in Children—A Systematic Review
by Michael Eisenhut and Anjana Jeevan
Children 2026, 13(2), 244; https://doi.org/10.3390/children13020244 - 9 Feb 2026
Viewed by 1159
Abstract
Background/objectives: The prevalence of autistic spectrum disorder has been increasing rapidly in the world population and the cause of this increase is unknown. Autistic spectrum disorder is an important cause of social, communication and specific learning difficulties in children. Assortative mating may increase [...] Read more.
Background/objectives: The prevalence of autistic spectrum disorder has been increasing rapidly in the world population and the cause of this increase is unknown. Autistic spectrum disorder is an important cause of social, communication and specific learning difficulties in children. Assortative mating may increase the genetic burden leading to manifestation of polygenic diseases affecting mental health in the offspring. Correlation of scores in the social responsiveness scale (SRS), which is used to quantify autistic spectrum disorder features, between spouses, has been used as indicator of phenotypic assortative mating. We investigated whether assortative mating is involved in increased severity of autism spectrum disorder in the offspring. Methods: All studies reporting on investigation of assortative mating in relationship to autistic spectrum disorder were included. Information sources were PubMed, EMBASE and the Cochrane Library. Results were synthesized by entering correlation analyses of results of the SRS conducted in spouses in a meta-analysis. A sub-group analysis was performed comparing spouses with offspring with diagnosed autistic spectrum disorder to spouses without. Prevalence of autistic spectrum disorders in children in countries with and without predominant assortative mating was compared. Results: A total of 14 investigations of assortative mating including 9914 spouse pairs were included. In total, 8 studies (4641 spouse pairs) reported intra-class correlation (ICC) or Spearman’s correlation coefficients between spouses’ SRS scores. There was a significant correlation of SRS scores in studies using ICC or Spearman’s correlation with a pooled coefficient = 0.37. Spouse pairs (n = 401) with offspring diagnosed with autistic spectrum disorder had a pooled ICC coefficient which was 0.278 (95% CI 0.08 to 0.46), significantly lower than spouse pairs without (n = 1525): 0.40 (95% CI 0.35 to 0.46). Higher scores in SRS of both spouses were associated with higher scores and more autism diagnoses in offspring. Pooled prevalence of autistic spectrum disorder in children in countries where assortative mating is most common was 63.1 per 10,000 of population and in countries without it was significantly lower with 14.1 per 10,000 of population. Conclusions: There is evidence of assortative mating according to social responsiveness scale score which correlates significantly in spouse pairs with and without children with autistic spectrum disorder. In countries where assortative mating is predominant, a higher prevalence of autism spectrum disorder in children is found compared to countries without. Full article
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20 pages, 3030 KB  
Article
Behavioral Features in Phelan–McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals
by Emily Payne, Bridgette A. Moffitt, Lindsay M. Oberman, Laura Beamer, Sujata Srikanth, Lauren Nicole Cascio, Kelly Jones, Lavanya Jain, Rini Pauly, Melanie May, Cindy Skinner, Carrie Buchanan, Barbara G. DuPont, Rebekah R. Martin, R. Curtis Rogers, Katy Phelan, Sara M. Sarasua, Walter E. Kaufmann and Luigi Boccuto
Genes 2026, 17(2), 202; https://doi.org/10.3390/genes17020202 - 8 Feb 2026
Viewed by 944
Abstract
Background/Objectives: Phelan–McDermid syndrome (PMS), caused by either chromosome 22q13.3 deletions or pathogenic/likely pathogenic variants in the SHANK3 gene, is a rare neurodevelopmental disorder. Behavioral issues greatly impair the quality of life for affected individuals and their families. This genotype–phenotype study intended to [...] Read more.
Background/Objectives: Phelan–McDermid syndrome (PMS), caused by either chromosome 22q13.3 deletions or pathogenic/likely pathogenic variants in the SHANK3 gene, is a rare neurodevelopmental disorder. Behavioral issues greatly impair the quality of life for affected individuals and their families. This genotype–phenotype study intended to further characterize key behavioral features and their genetic and metabolic correlates in PMS. Methods: We conducted a cross-sectional analysis of data on 56 individuals with PMS. Autistic and related behaviors were assessed with the Autism Diagnosis Interview—Revised (ADI-R) and adaptive behavior skills were assessed with the Vineland Adaptive Behavior Scales-Third Edition (Vineland-3), both covering multiple aspects of communication, socialization and abnormal behaviors. Genetic diagnostic information on deletions or pathogenic variants was supplemented with the sequencing data of nine candidate genes on 22q13.3. Metabolic data were obtained using the Biolog Phenotype Mammalian MicroArray plates (PM-M). Results. Every subject in the cohort presented either prominent autistic behavior or adaptive behavior impairment, 55.4% of them meeting the ASD cutoff in every ADI-R domain and 92.9% scoring in the lowest level of adaptive behavior (range of 20–70). Individuals with SHANK3 variants had lower adaptive behavioral skills than those with 22q13 deletions regardless of deletion size, while genomic parameters were largely unrelated to ADI-R scores. Metabolic profiling identified unique profiles of individuals with PMS compared with controls, while distinct profiles distinguished those who met or did not meet the ADI-R ASD cutoff. Cluster analyses revealed groups of individuals with ASD and other clinical features. Conclusion. This study highlighted the importance of SHANK3 in adaptive behavioral skills and uncovered potential metabolic biomarkers of therapeutic relevance. Full article
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