Pubmed du 03/05/25
1. Bierlich AM, Plank IS, Scheel NT, Keeser D, Falter-Wagner CM. Neural processing of social reciprocity in autism. Neuroimage Clin. 2025; 46: 103793.
Social reciprocity and interpersonal synchrony implicitly mediate social interactions to facilitate natural exchanges. These processes are altered in autism, but it is unclear how such alterations manifest at the neural level during social interaction processing. Using task-based fMRI, we investigated the neural correlates of interpersonal synchrony during basic reciprocal interactions in a preregistered study. Participants communicated with a virtual partner by sending visual signals. Analyses showed comparable activation patterns and experienced synchrony ratings between autistic and non-autistic participants, as well as between interactions with virtual partners who had high or low synchronous responses. An exploratory whole brain analysis for the effect of task revealed significant activation of the inferior frontal gyrus, insular cortex, and anterior inferior parietal lobe; areas associated with cognitive control, rhythmic temporal coordination, and action observation. This activation was independent of the virtual partner’s response synchrony and was similar for autistic and non-autistic participants. These results provide an initial look into the neural basis of processing social reciprocity in autism, particularly when individuals are part of an interaction, and hint that the neural processing of social reciprocity may be spared in autism when their partners’ behavior is predictable.
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2. Black AK, Weaver AC, Jacob R. A Primary Care Approach to Visual Screening in Adults with Intellectual and Developmental Disabilities. South Med J. 2025; 118(5): 299-305.
This article explores the unique challenges faced by adults with intellectual and developmental disabilities (IDDs) and proposes ways in which primary care physicians can improve ocular health in this patient population. The existing literature does not offer specific guidelines for vision screening in adults with IDDs in the primary care setting. Effectively screening for ocular issues and making timely referrals to specialists can improve ocular health. We recommend screening visual acuity at least annually, even in the absence of visual complaints in adults with IDDs to monitor for changes in visual acuity in this unique patient population that is prone to visual challenges and is vulnerable to underdiagnosis of related conditions.
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3. Feldman D, Prigge M, Alexander A, Zielinski B, Lainhart J, King J. Publisher Correction: Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood. Mol Autism. 2025; 16(1): 28.
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4. Grossman RB, Sager M, Ventresca H, Mertens J, Zane E. Positive emotional valence in spontaneous facial expressions of autistic adolescents. Sci Rep. 2025; 15(1): 15341.
Facial expressions produced by autistic individuals are often perceived as difficult to interpret. Most data on facial expression production rely on posed or mimicked facial expressions, which may not be representative of spontaneous expressiveness. In this paper, we analyze facial expressions produced spontaneously in response to brief video clips. We presented a pseudo-randomized sequence of humorous and disgusting YouTube clips to autistic and non-autistic adolescents and videotaped their spontaneous facial reactions to the videos. Facial feature movements were coded for the duration (in milliseconds) and valence (positive or negative) of the expression. All coders were naïve to diagnosis and all videos were independently double coded. Autistic participants produced longer emotional facial expression durations (positive and negative) in response to video stimuli compared to non-autistic participants. Autistic adolescents specifically produced longer positive facial expressions, including in response to negative videos, a pattern not seen in non-autistic adolescents. These data provide important information regarding spontaneous facial expression production of autistic and non-autistic adolescents. Results indicate that social miscommunication between autistic and non-autistic adolescents may in part be based on autistic facial feature movements that are perceived as positive, even when they are prompted by stimuli with negative content.
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5. Gunelson AM, Kim KS, Steigerwald CG, Segal D, Abreu NJ, Yi JJ. Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A. J Hum Genet. 2025.
The loss of maternal UBE3A causes Angelman syndrome whereas its duplication is associated with a heterogeneous neurodevelopmental disorder. Here, we describe two affected brothers who possess a novel UBE3A(L734S) variant that is not present in two neurotypical siblings. The UBE3A(L734S) variant was confirmed to be maternally inherited, and the affected individuals exhibited early global developmental delay, ongoing learning difficulties, and autistic features. Their phenotypes were inconsistent with Angelman syndrome. Biochemical characterization showed the UBE3A(L734S) variant causes a dramatic increase in the activity of the UBE3A enzyme, suggesting that a gain in UBE3A activity is the driver of neurodevelopmental disease. Our observations document an emerging class of neurodevelopmental disorders caused by gain-of-function mutations in UBE3A.
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6. Hayden-Evans M, Afsharnejad B, Lee EAL, Milbourn B, Picen T, Johnson M, Bölte S, Girdler S. « I made friends a lot more easily »: children and families’ experiences of social group programs for children on the autism spectrum. BMC Pediatr. 2025; 25(1): 353.
BACKGROUND: Social Skills Group Programs (SSGP) target the social communication and interaction skills of children on the autism spectrum. This qualitative study explored lived experiences of children and families who participated in a randomised controlled trial (RCT) evaluating the efficacy of KONTAKT™ adapted for younger children (8 to 12 years) in comparison to an active control social art group (ART Legends). METHODS: Semi-structured interviews were conducted online with parents (n = 37) and children (n = 35) who participated in the RCT, immediately following the interventions. Interview questions were designed to elicit responses relating to program content, structure, and experiences. The data were analysed using a deductive coding framework. RESULTS: Findings suggest SSGPs such as KONTAKT™, implementing multiple teaching strategies, and less structured social group activities such as ART Legends can both have a perceived positive influence on outcomes. More children in the KONTAKT™ group reportedly improved their social skills than those in the art group. Overall, participants’ experiences were predominantly positive. Both barriers (e.g., session timing, distance from home) and facilitators (e.g., support of family members) to participation were identified; feelings towards individual aspects of the groups were dependent on a range of personal factors (e.g., existing commitments). CONCLUSION: This study describes experiences of organised social group participation from the perspectives of children on the spectrum and their families, supporting the positive influence of such contexts for autistic youth. Suggestions made by participants to improve social groups are presented, contributing to ongoing development of SSGPs for children on the spectrum. TRIAL REGISTRATION: (1) Australian New Zealand Clinical Trials Registry (ANZCTR): ACTRN12619000994189, registered 12 July 2019, anzctr.org.au; (2) ClinicalTrials.gov: NCT04024111 registered 1 December 2019, https://clinicaltrials.gov .
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7. Shibu P, Ra D, Robins JE, Joseph S, Anteraper S. Terra Incognita – Contributions of the Olivo-Cerebellar System to Autism Spectrum Disorder. Cerebellum. 2025; 24(4): 93.
The inferior olivary nuclei (ION), a key component of the olivo-cerebellar system, remain understudied in autism spectrum disorder (ASD) research despite evident cerebellar involvement. This perspective piece aims to elucidate the critical role of the ION in cerebellar microcircuitry and its potential implications in ASD pathophysiology. We review the olivo- cerebellar system and the structural and functional alterations of the ION in autism, highlighting findings from neuroanatomical, neuroimaging, and behavioral studies. ION disruptions, although underexplored, may have a major role in the symptomatology of ASD, particularly higher-order cognitive abilities, rapid stimuli processing, and motor coordination. Specifically, we highlight how anomalies in olivary neuron morphology and olivo-cerebellar connectivity patterns may underlie deficits in temporal processing and motor learning observed in ASD. Furthermore, we discuss the challenges in brainstem imaging and recent advancements in ultra-high field (UHF) 7 T MRI technology, as standard neuroimaging techniques. As these neuroimaging techniques continue to evolve, further investigation of the functional territories of the ION holds promise for providing essential understandings into ASD processes and may lead to pioneering therapeutic options targeting this crucial brainstem area.
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8. Zoltowski AR, Failla MD, Wu F, Convery CA, Lewis B, Woodward ND, Rogers BP, Cascio CJ. Insular functional connectivity in autistic and non-autistic development. Biol Psychol. 2025: 109043.
BACKGROUND: There is evidence for altered interoceptive processing in individuals diagnosed with autism, compared to non-autistic individuals. At a neural level, functional and structural connectivity of interoceptive cortices may differ in autism, though developmental patterns of these differences are unclear as well as how these patterns may vary by subregion within the insular cortex. To better understand the roles of autism, age, and subregion in interoceptive connectivity patterns, we used a cross-sectional approach to examine interoceptive functional connectivity across individuals spanning a wide age range. METHODS: N=59 autistic individuals (ages 7-54) and N=71 non-autistic individuals (ages 7-51) completed a resting-state functional magnetic resonance imaging scan. From these scans, we analyzed seed-based functional connectivity of insula subregions (posterior, middle, and anterior) by hemisphere. We analyzed associations with age, group, and interoceptive self-reported experiences, as measured in a subset of individuals who completed the Body Perception Questionnaire. RESULTS: We found that with age, primary interoceptive cortex showed decreased functional coupling with subcortical regions such as the thalamus and increased coupling with multimodal parietal regions. Functional connectivity within key interoceptive areas was decreased in those with increased reported body awareness. Differences between the autistic and non-autistic groups were minimal, with a single finding of heightened connectivity in autism between left posterior insula and lateral occipital cortex. CONCLUSIONS: These findings shed light on potential developmental shifts in how interoceptive processing is balanced between lower-order and higher-order areas. Further, they provide background for how autistic patterns of interoceptive processing may be considered relative to age.
