Molecular Autism最新文献

{"title":"UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.","authors":"Claudia Milazzo, Ramanathan Narayanan, Solveig Badillo, Silvia Wang, Rosaisela Almand, Roos Monshouwer, Manuel Tzouros, Sabrina Golling, Edwin Mientjes, Stormy Chamberlain, Thomas Kremer, Ype Elgersma","doi":"10.1186/s13229-025-00675-z","DOIUrl":"10.1186/s13229-025-00675-z","url":null,"abstract":"<p><strong>Background: </strong>Angelman Syndrome (AS) is a severe neurodevelopmental disorder with only symptomatic treatment currently available. The primary cause of AS is loss of functional UBE3A protein. This can be caused by deletions in the maternal 15q11-q13 region, maternal AS-imprinting center defects (mICD), paternal uniparental disomy of chromosome 15 (UPD) or mutations within the UBE3A gene. Current mouse models are Ube3a-centric and do not address expression changes of other genes in the 15q11-q13 locus on the pathophysiology of AS. This limits the ability to discern differences in therapeutic responses to current UBE3A-targeting strategies and hampers the identification of novel therapeutics/co-therapeutics.</p><p><strong>Methods: </strong>Using a mouse line that harbors a maternally inherited mutation affecting the AS-PWS imprinting center ('mICD mice'), we studied the impact of the mICD or UPD AS subtype on behavior, seizure susceptibility and proteome. Additionally, by using mice overexpressing two copies of Ube3a or antisense oligonucleotide (ASO) targeting Ube3a-ATS, we analyzed the impact of bi-allelic Ube3a activation on behavior and proteome.</p><p><strong>Results: </strong>mICD mice showed 80% reduction in UBE3A protein, bi-allelic expression of Ube3a-ATS and Mkrn3-Snord115 gene cluster, leading to robust AS behavioral deficits and proteome alterations similar to Ube3a^m-/p+ mice. Genetic UBE3A overexpression in mICD mice, mimicking therapeutic strategies that effectively activate the biallelic silenced Ube3a gene, resulted in a complete rescue of all behavioral phenotypes, seizure susceptibility and proteome alterations. Subsequently, treatment with an antisense oligonucleotide (ASO) to directly activate the biallelic silenced Ube3a gene in mICD mice also resulted in efficient reinstatement of UBE3A, 30% higher relative to WT, alongside a partial rescue of behavioral phenotypes.</p><p><strong>Limitations: </strong>Despite using a highly robust AS-specific behavioral battery, we did not investigate readouts such as neuronal activity and sleep, for which impairments in Ube3a^m-/p+ mice were described.</p><p><strong>Conclusions: </strong>Taken together, these findings demonstrate that the loss of UBE3A protein is the primary factor underlying AS phenotypes in this mICD/UPD mouse model of AS, while the biallelic expressed genes in this locus play either a marginal or yet unidentified role. These findings also corroborate UBE3A reinstatement as an attractive therapeutic strategy for AS individuals carrying an mICD or UPD mutation.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"45"},"PeriodicalIF":5.5,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144961591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Social inference brain networks in autistic adults during movie-viewing: functional specialization and heterogeneity.","authors":"Jasmin M Turner, Lisa Byrge, Hilary Richardson, Paola Galdi, Daniel P Kennedy, Dorit Kliemann","doi":"10.1186/s13229-025-00669-x","DOIUrl":"10.1186/s13229-025-00669-x","url":null,"abstract":"<p><strong>Background: </strong>Difficulty in social inferences is a core feature in autism spectrum disorders (ASD). On the behavioral level, it remains unclear whether reasoning about others' mental states (Theory of Mind, ToM) and empathic responses to others' physical states may be similarly or differentially affected in autism. On the neural level, these inferences typically engage distinct brain networks (ToM versus Pain networks), but their functional specialization remains not well understood in autism. This study aimed to investigate the functional specialization, heterogeneity, and brain-behavior relationships of the ToM and Pain networks in autistic compared to neurotypical (NT) participants. We hypothesized differential functional network specialization (i.e., functional connectivity), increased heterogeneity, and less typical network responses specifically in the ToM network, with relatively similar responses in the Pain network in ASD.</p><p><strong>Methods: </strong>Using functional magnetic resonance imaging (fMRI), we investigated neural responses in 107 adults (autistic: 34 (female = 11), NT: 73 (female = 23); matched for age, intellectual functioning, sex, motion) while they passively watched a short, animated movie including events that evoke reasoning about characters' mental states and bodily sensations. Preregistered analyses included regression models to assess inter-region correlation of within- and across-network connectivity, inter-subject correlation to quantify similarity to the average neurotypical, as well as to within- and across-group timecourse responses, and brain-behavior relationships relevant for social inferences.</p><p><strong>Results: </strong>Functional specialization of ToM and Pain networks were overall intact, with distinct network responses in both groups. The autistic group showed differential ToM network responses and reduced similarity to the average typical response for both networks. Network responses were more idiosyncratic and heterogenous in the autistic group. Brain-behavior relationships differed between groups for ToM behavior only.</p><p><strong>Limitations: </strong>Effects between groups were overall small. Samples were acquired across two sites, yet the sample size restricts subgroup analyses that may further inform autistic heterogeneity and limits generalizability.</p><p><strong>Conclusions: </strong>We found weak evidence for greater differential responses in brain networks underlying ToM inferences than those involved in empathic responses in autism, consistent with a prior empathy imbalance hypothesis. We outline suggestions for replicating, generalizing and extending these results in future research.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"42"},"PeriodicalIF":5.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372314/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144961513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice.","authors":"Markus Wöhr, Wendy M Fong, Justyna A Janas, Moritz Mall, Christian Thome, Madhuri Vangipuram, Lingjun Meng, Thomas C Südhof, Marius Wernig","doi":"10.1186/s13229-025-00677-x","DOIUrl":"10.1186/s13229-025-00677-x","url":null,"abstract":"","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"43"},"PeriodicalIF":5.5,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144961534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Locus coeruleus tonic upregulation increases selectivity to inconspicuous auditory information in autistic compared to non-autistic individuals: a combined pupillometry and electroencephalography study.","authors":"Nico Bast, Jumana Ahmad, Luke Mason, Emily J H Jones, Magdalena Matyjek, Leonie Polzer, Christina Luckhardt, Anna Katharina Müller, Grainne M McAlonan, Tobias Banaschewski, Sarah Baumeister, Eva Loth, Christine M Freitag","doi":"10.1186/s13229-025-00678-w","DOIUrl":"10.1186/s13229-025-00678-w","url":null,"abstract":"<p><strong>Background: </strong>Sensory processing requires selectivity to salient sensory input. Many autistic individuals report different sensory processing, which has been associated with altered sensory selectivity. The locus-coeruleus norepinephrine (LC-NE) system modulates the neuronal gain of sensory input, which represents a neurophysiological mechanism of sensory selectivity. In autistic individuals, we hypothesized that LC-NE tonic upregulation reduces sensory selectivity and underlies different sensory processing.</p><p><strong>Methods: </strong>Autistic (n = 139) and non-autistic (n = 98) individuals were assessed during a passive auditory oddball task with pupillometry and electroencephalography. For every trial, a baseline pupil size (BPS) assessed LC-NE tonic activity that coincides with current arousal, while a stimulus-evoked pupillary response (SEPR) assessed LC-NE phasic activity that estimated sensory selectivity. Electroencephalography assessed amplitudes of mismatch negativity (MMN-amp) that estimated pre-attentive change detection as a brain-activity readout of sensory selectivity. Measures were modeled between groups within the task by combining Frequentist and Bayesian approaches.</p><p><strong>Results: </strong>Across groups, higher BPS was associated with more negative MMN-amp to standards and oddballs. A more negative MMN-amp to standards was associated with a higher SEPR to standards. Controlling for these associations, autistic versus non-autistic individuals showed a higher SEPR in response to standards. In addition, a positive association of BPS and SEPR to standards was specific to autistic individuals. With task progression, autistic versus non-autistic individuals showed a higher initial increase and subsequently steeper decrease of BPS. This was supported by Bayesian posterior distribution estimates.</p><p><strong>Limitations: </strong>A short trial duration required concatenating trials to epochs and applying a linear-time invariant filter to capture the slow pupil changes. Without an LC-NE manipulation, we cannot rule out that pupil changes are evoked by other cortical pathways than the LC-NE.</p><p><strong>Conclusions: </strong>Across groups, LC-NE tonic upregulation is emphasized as a general mechanism that un-specifically increases pre-attentive change detection to all sensory stimuli, which then increases sensory selectivity to frequent stimuli. In autistic individuals, different sensory processing is characterized by increased sensory selectivity to frequent stimuli. This is likely caused by an LC-NE tonic upregulation. It associates autistic sensory processing with increased arousal upregulation that increases sensory selectivity to inconspicuous auditory information.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"41"},"PeriodicalIF":5.5,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372287/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144961567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The neural bases of language processing during social and non-social contexts: a fNIRS study of autistic and neurotypical preschool-aged children.","authors":"M Pecukonis, J Gerson, H Gustafson-Alm, M Wood, M Yücel, D A Boas, H Tager-Flusberg","doi":"10.1186/s13229-025-00655-3","DOIUrl":"10.1186/s13229-025-00655-3","url":null,"abstract":"<p><strong>Background: </strong>Little is known about how autistic children's brains process language during real-world \"social contexts,\" despite the fact that challenges with language, communication, and social interaction are core features of Autism Spectrum Disorder (ASD).</p><p><strong>Methods: </strong>We investigated the neural bases of language processing during social and non-social contexts in a sample of autistic and neurotypical (NT) preschool-aged children, 3-6 years old, living in the United States. Functional near-infrared spectroscopy was used to measure children's brain response to \"live language\" spoken by a live experimenter during an in-person social context (i.e., book reading) and \"recorded language\" played via an audio recording during a non-social context (i.e., screen time). We examined within-group and between-group differences in the strength and localization of brain response to live language and recorded language, as well as correlations between children's brain response to live language versus recorded language and their language skills, as measured by the Preschool Language Scales.</p><p><strong>Results: </strong>In the NT group, brain response to live language was greater than brain response to recorded language in the right temporal parietal junction (TPJ). In the ASD group, the strength of brain response did not differ between conditions in any brain regions of interest after correction for multiple comparisons. Children who showed a greater difference in right TPJ brain response to live language versus recorded language had higher language skills; this significant correlation was driven by the ASD group.</p><p><strong>Limitations: </strong>Findings should be considered preliminary until they are replicated in a larger sample.</p><p><strong>Conclusions: </strong>Group level findings indicate that for NT children, but not autistic children, the right TPJ responds more strongly to live language presented during a social context compared to recorded language presented during a non-social context. However, individual differences in how the right TPJ responds to language during social versus non-social contexts may help to explain why language skills are so variable across children on the autism spectrum.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"40"},"PeriodicalIF":5.7,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12330146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prediction efficiency and incremental processing strategy during spoken language comprehension in autistic children: an eye-tracking study.","authors":"Zihui Hua, Tianbi Li, Ruoxi Shi, Ran Wei, Li Yi","doi":"10.1186/s13229-025-00674-0","DOIUrl":"10.1186/s13229-025-00674-0","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Language difficulties are common in autism, with several theoretical perspectives proposing that difficulties in forming and updating predictions may underlie the cognitive profile of autism. However, research examining prediction in the language domain among autistic children remains limited, with inconsistent findings regarding prediction efficiency and insufficient investigation of how autistic children incrementally integrate multiple semantic elements during language processing. This study addresses these gaps by investigating both prediction efficiency and incremental processing strategy during spoken language comprehension in autistic children compared to neurotypical peers.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Using the visual world paradigm, we compared 45 autistic children (3-8 years) with 52 age-, gender-, and verbal IQ-matched neurotypical children. Participants viewed arrays containing a target object and three semantically controlled distractors (agent-related, action-related, and unrelated) while listening to subject-verb-object structured sentences. Eye movements were recorded to analyze fixation proportions. We employed cluster-based permutation analysis to identify periods of sustained biased looking, growth curve analysis to compare fixation trajectories, and divergence point analysis to determine the onset timing of predictive looking.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Both groups demonstrated predictions during spoken language comprehension and employed similar incremental processing strategies, showing increased fixations to both target objects and action-related distractors after verb onset despite the latter's incompatibility with the agent. However, autistic children exhibited reduced prediction efficiency compared to neurotypical peers, evidenced by significantly lower proportions of and slower growth rates in fixations to target objects relative to unrelated distractors, and delayed onset of predictive looking. Reduced prediction efficiency was associated with higher levels of autism symptom severity in the autistic group and increased autistic traits across both groups, with autism-related communication difficulties showing the most robust associations.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations: &lt;/strong&gt;Our sample included only autistic children without language impairments, limiting generalizability to the broader autism spectrum. The task employed only simple sentence structures in controlled experimental settings, which may not fully capture language processing patterns in naturalistic communication contexts.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;While autistic children employ similar incremental processing strategies to neurotypical peers during language comprehension, they demonstrate reduced prediction efficiency. Autism symptom severity and autistic traits varied systematically with prediction efficiency, with autism-related communication difficulties showing the strongest associations. These findings en","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"39"},"PeriodicalIF":5.5,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12323288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144784835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Social orienting in prematurely born preschoolers: a case control study showing altered neural tuning towards voices, not faces.","authors":"Rowena Van den Broeck, Lisa Gistelinck, Sofie Vettori, Ward Deferm, Silke Vos, Bieke Bollen, Gunnar Naulaers, Els Ortibus, Bart Boets","doi":"10.1186/s13229-025-00672-2","DOIUrl":"10.1186/s13229-025-00672-2","url":null,"abstract":"<p><strong>Background: </strong>Despite advancements in neonatal care, premature infants remain at increased risk for cognitive and socio-emotional difficulties, collectively referred to as the preterm behavioral phenotype. A particular aspect of this phenotype is atypical social orienting, characterized by reduced attention towards socially relevant information, similar to what has been reported for autism spectrum disorder.</p><p><strong>Methods: </strong>We monitored a cohort of prematurely born children from birth. At five years of age, we administered a series of frequency-tagging electroencephalography (EEG) paradigms to investigate their neural sensitivity to social cues, i.e., sensitivity for faces and voices. Frequency-tagging EEG utilizes fast periodic stimulation to elicit synchronized brain responses measurable in the frequency domain. In the preterm (N = 66) and in a matched full-term control group (N = 32), we applied two multi-input frequency-tagging EEG paradigms, simultaneously presenting streams of social and non-social stimuli, each tagged at different presentation rates. In the visual domain, we presented streams of faces and houses. In the auditory domain, we presented streams of voices and object sounds. We used linear mixed models to investigate the effects of group and stimulus type.</p><p><strong>Results: </strong>All children showed an implicit social bias towards faces and voices. Compared to full-term peers, preterm preschoolers showed intact neural tuning to faces, but diminished neural tuning to voices, in particular in the speech-sensitive 3.70 Hz frequency band.</p><p><strong>Limitations: </strong>The preterm group was highly heterogeneous in terms of gestational age and consisted of healthy preterm preschoolers. Moreover, the used paradigms are artificial and may not fully capture neural tuning in naturalistic social interactions.</p><p><strong>Conclusions: </strong>The diminished neural response to voices in the preterm children may potentially reflect the effects of atypical auditory exposure and premature visual exposure in the NICU environment or altered social experiences early in life. These findings contribute to our understanding of the socio-emotional and communicative development in preterm populations and may aid in identifying children at risk for psychopathology or subclinical socio-emotional difficulties.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"38"},"PeriodicalIF":5.5,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12312245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144753836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A transdiagnostic study of theory of mind in children and youth with neurodevelopmental conditions.","authors":"Kaela Amorim, Marlee M Vandewouw, Nhu Huynh, Kathrina de Villa, Celine Safati, Aurora Almonte, Rob Nicolson, Elizabeth Kelley, Jennifer Crosbie, Jessica Brian, Evdokia Anagnostou, Margot J Taylor, Julie Sato","doi":"10.1186/s13229-025-00671-3","DOIUrl":"10.1186/s13229-025-00671-3","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Theory of mind (ToM) is fundamental for social interactions, allowing individuals to appreciate that others have their own mental states. Children and youth with neurodevelopmental conditions (e.g., autism, attention-deficit hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD)) often show differences in ToM abilities compared to their neurotypical (NT) peers. Given the phenotypic heterogeneity and overlap associated with these conditions, this motivates a transdiagnostic investigation of ToM across neurodevelopmental conditions.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Five hundred and fifty-five participants (5-22 years; 193 ADHD, 189 autism, 33 OCD, and 140 NT) were recruited via the Province of Ontario Neurodevelopmental Disorders network. To measure ToM, participants completed the Social Attribution Task (SAT), where participants attribute social stories to videos of moving shapes. The Animation Index (ability to attribute social stories to the videos) and Pertinence Index (how pertinent the attributions are) were calculated from the descriptions. Three analyses were performed: (1) a case-control analysis, comparing the SAT indices amongst the diagnostic groups, (2) a univariate dimensional analysis, examining associations with phenotypic variables (e.g., full-scale IQ, verbal IQ, and social communication difficulties), (3) and a multivariate analysis (partial least squares) that identifies a latent space that describes the associations between the SAT and phenotypic measures.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;There were no between-group differences in the Animation Index, but the Pertinence Index was significantly lower in autism compared to the other diagnostic categories. Phenotypic variables (full-scale IQ, verbal IQ, and social communication difficulties) were found to be significantly associated with SAT performance across groups, and explained more variance than the diagnostic categories. In the multivariate analysis, the phenotypic variables contributed more strongly to the identified latent component compared to the diagnostic categories.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations: &lt;/strong&gt;The verbal requirement of the SAT limited the inclusion of non-verbal participants, while the overall cognitive demand limited the participation of those with lower IQs. Additionally, our OCD group was significantly smaller than the other groups, which may have limited our ability to detect OCD-specific effects.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;In a large sample, we found that transdiagnostic measures, such as IQ and social communication difficulties, are related to SAT abilities across neurodivergent and neurotypical children and youth and better describe differences in SAT performance compared to the individual diagnostic categories. Although poorer performance on ToM tasks has been classically associated with autism, this study highlights that transdiagnostic, phenotypic variables are a stronger predictor of SAT perform","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"37"},"PeriodicalIF":5.5,"publicationDate":"2025-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12276665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autism.","authors":"Kristelle Hudry, Lacey Chetcuti, Diana Weiting Tan, Alena Clark, Alexandra Aulich, Catherine A Bent, Cherie C Green, Jodie Smith, Kathryn Fordyce, Masaru Ninomiya, Atsushi Saito, Shuji Hakoshima, Andrew J O Whitehouse","doi":"10.1186/s13229-025-00670-4","DOIUrl":"10.1186/s13229-025-00670-4","url":null,"abstract":"<p><p>BACKGROUND: Eye-tracking could expedite autism identification/diagnosis through standardisation and objectivity. We tested whether Gazefinder autism assessment, with Classification Algorithm derived from gaze fixation durations, would have good accuracy (area under the curve [AUC] ≥ 0.80) to differentiate 2-4-year-old autistic from non-autistic children. METHODS: Community sampling (March 2019-March 2021) of 2:00–4:11 year-olds included children recruited into a diagnosed Autism Group (‘cases’) and Non-Autism ‘Control’ Group (with likely undiagnosed autism minimised). We recruited well beyond minimum necessary sample size to ensure within-group heterogeneity and allow exploratory subgroup analysis. Alongside Gazefinder eye-tracking attempted with all recruited participants, we collected parent-report measures for all children, and clinical/behavioural measures with autistic children. RESULTS: 102 autistic (81.4% male; Mage= 44mths; SD = 8.8) and 101 non-autistic children (57.4% male; M = 40; SD = 10.5) were recruited and eligible; the former slightly older, proportionately more male, and reflecting greater socio-demographic diversity. Gazefinder autism assessment was completed with 101 non-autistic children (n = 1 returning minimal data), and attempted with 100- and completed with 96 autistic children (n = 2 not attempted following adverse responses to clinical testing; n = 4 attempted but unable to calibrate). The Non-Autism Group returned significantly more overall tracking data. The final Classification Algorithm (range 0-100; threshold score = 28.6)—derived from n = 196 children’s fixation durations to elements of social/non-social scenes, human face presentations, and referential attention trials—had AUC = 0.82 (sensitivity = 0.82, specificity = 0.70). Compared to those correctly classified, autistic children misclassified as ‘controls’ showed greater overall tracking, and less pronounced autism features and developmental disability. Compared to correctly classified non-autistic children, those misclassified as ‘cases’ were older with lower overall tracking. LIMITATIONS: Our groups differed on socio-demographic characteristics and overall tracking (included within the Classification Algorithm). We used the ‘Scene 10A’ stimulus set as provided, without update/modification. Industry employees who developed the final Algorithm were non-blinded to child group, and considered only gaze fixation durations. Community sampling and ‘case-control’ design—comparing diagnosed autistic vs. non-autistic children—could be improved via future referral-based recruitment. CONCLUSIONS: Most children tolerated Gazefinder autism assessment, and our Classification Algorithm properties approached those reported from other Gazefinder use and established clinical assessments. Independent replication is required, and research informing the most suitable clinical application of this technology. TRIAL REGISTRATION: ACTRN12619000317190</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"36"},"PeriodicalIF":5.7,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12247230/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Access to services for autistic people across Europe.","authors":"Siti Nurnadhirah Binte Mohd Ikhsan, Rosemary Holt, Joyce Man, Tracey Parsons, Rik Schalbroeck, Amber Ruigrok, Aurélie Baranger, Carrie Allison, Mary Doherty, Katrien Van den Bosch, Jerneja Terčon, Pierre Violland, Anjuli Ghosh, James Cusack, Simon Baron-Cohen","doi":"10.1186/s13229-025-00664-2","DOIUrl":"10.1186/s13229-025-00664-2","url":null,"abstract":"<p><strong>Background: </strong>Autistic communities in Europe continue to face difficulties accessing services despite increasing rates of autism diagnosis in recent years.</p><p><strong>Methods: </strong>To investigate autistic people's access to services in Europe and reasons for unsuccessful access, we conducted the ACCESS-EU survey comprising of 2322 formally diagnosed autistic people and family carers living within the European Union (EU) and the United Kingdom (UK). The survey also examined age group (adult vs. child) and gender (male vs. female) differences in results.</p><p><strong>Results: </strong>Overall, autistic people reported access to therapy (33.38%), mental health (29.89%), educational (27.05%), medical (34.28%), financial (26.66%), needs assessment (14.90%), information/referral (14.73%), social care (14.43%), employment (7.54%), housing (6.80%), legal (3.96%), helpline (3.40%) and other services (0.26%), and most (≥ 57.61%) had waited up to 6 months from referral to access most services. Several respondents were also unable to access therapeutic (13.53%), mental health (11.90%), autism diagnostic (5.92%), needs assessment (8.32%), financial (9.62%), educational (8.10%), social care (7.39%), information/referral (6.14%), medical (7.28%), housing (5.92%), employment (5.43%), legal (3.42%), and helpline services (2.34%). Reasons cited by respondents for their unsuccessful service access included service unavailability (23.08%), service unsuitability or participant ineligibility (20.04%), long waitlists (17.42%), service unaffordability (11.80%), and rejection from service due to autism diagnosis (9.87%), along with other reasons not listed in the survey (18.42%). Significant age group and gender differences were observed for successful access to services, waiting time, unsuccessful access and reasons for unsuccessful access. Among the five most represented countries in the survey-the UK (33.33%), Spain (14.04%), Poland (13.87%), France (11.07%) and Germany (6.03%)-overall service access was most inconsistent in Poland and the UK, highest in Germany and Spain but poorest in France.</p><p><strong>Limitations: </strong>Issues related to survey presentation such as the languages in which the survey was conducted and the phrasing of some questions should be considered, as well as issues regarding subjectivity and ambiguity of data analysis such as translation of non-English responses into English.</p><p><strong>Conclusions: </strong>Our findings suggest that service access among autistic people in Europe is inconsistent. Significant improvement to current policies is required to enhance access to services across Europe.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"35"},"PeriodicalIF":5.5,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12166561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144294110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}