1. Bai Y, Poliakoff E, Gowen E. Perception of Biological Motion and Actions in Autism: a Systematic Review. Neurosci Biobehav Rev. 2025: 106343.

Detecting and recognising the Biological Motion (BM) of other people provides essential information to understand others’ actions and intentions, thus facilitating social interactions. Difficulties with social interaction are a hallmark of autism and may stem from altered perceptual recognition or interpretation of others’ actions. This systematic review investigates whether BM perception in autistic individuals is influenced by the different categories of BM processing and the methodological differences between different BM paradigms. It also explores potential overlap between performance in non-biological motion tasks and BM perception. A total of 51 empirical studies compared BM task performance between 1,066 autistic individuals and 1,086 non-autistic individuals. Autistic individuals demonstrated poorer performance in BM discrimination tasks that involved greater social cognition. There were no consistent patterns regarding methodological differences across the tasks, such as stimulus types, motion varieties, or level of instructions. Poorer performance in BM tasks was often mirrored in non-biological motion tasks, suggesting potential overlap in underlying processing mechanisms. Future research should explore a broader range of ages, directly compare performances across tasks, and level of instructions to advance understanding of perceptual processing in autism.

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2. Castillo M, Gaines AG, Moore CM, Pan CX. State Decision-Making Approaches in Seriously Ill People with Intellectual/Developmental Disability. J Pain Symptom Manage. 2025.

Hospice and palliative care (HAPC) clinicians supporting individuals with intellectual and developmental disabilities (IDD) navigate complex decision-making pathways while promoting autonomy and dignity. Approximately 1-3% of the global population lives with IDD, and many healthcare professionals feel ill-prepared to meet their unique needs, particularly in serious illness planning. Advance care planning (ACP) for this population is complicated by historical discrimination, ongoing inequities, and inconsistent legal frameworks. Supported decision-making offers a rights-based alternative to surrogate decision-making, preserving individuals’ autonomy. This manuscript presents the case of Mr. A, an adult with Down syndrome, to illustrate practical ACP and supported decision-making considerations across Maryland, New York, and Pennsylvania. Each state’s legal requirements for appointing a healthcare agent (HCA), determining capacity, and avoiding guardianship are discussed. Through thoughtful ACP and supported decision-making, HAPC clinicians can promote appropriate autonomy for individuals with IDD, fostering inclusive serious illness discussions and ethical practices across diverse legal landscapes.

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3. Dingwall R, May C, McDonald JA, Hill T, Brown R, Lawrence AJ, Hannan AJ, Burrows EL. Training Schedule Affects Operant Responding Independent of Motivation in the Neuroligin-3 R451C Mouse Model of Autism. Genes Brain Behav. 2025; 24(4): e70032.

Autism affects ~1 in 100 people and arises from the interplay between rare genetic changes and the environment. Diagnosis is based on social and communication difficulties, as well as the presence of restricted and repetitive behaviours. Autism aetiology is complex. However, the social motivation hypothesis proposes that an imbalance in the salience of social over non-social stimuli contributes over time to the autism phenotype. Accordingly, motivational dysfunction in autism is widespread, and human imaging data has identified broad impairments to reward processing. The R451C mutation of the neuroligin-3 gene is one such rare genetic change. Knock-in mice harbouring this mutation (NL3) exhibit a range of autism-related phenotypes, including impaired sociability and social motivation. However, no prior report has directly probed non-social motivation. Here, we explore conflicting results from the progressive ratio (PR) and conditioned place preference tasks of non-social motivation. Initial PR results were inconsistent, suggesting reduced, unaltered, and elevated non-social motivation, respectively. Utilising several experimental designs, we probed a range of confounders likely to influence task performance. Overall, reduced PR responding by NL3s likely arose from a combination of their superior ability to withhold responding during prior training and a short PR training schedule. Meanwhile, increased PR responding by NL3s was attributable to their heightened degree of habitual responding. The NL3 mouse model therefore likely best represents autistic individuals with intact non-social motivation but altered behavioural updating. Finally, we discuss the benefits and limitations of using heterogenous experimental designs to probe behavioural phenotypes and offer some general recommendations for PR.

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4. Howerton EM, Morrill V, Schrott R, Daniels J, Song AY, Benke K, Volk H, Farzadegan H, Anido Alexander A, Tapia AL, Dichter GS, Croen LA, Wiggins L, Wojcik G, Fallin MD, Ladd-Acosta C. An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits. J Neurodev Disord. 2025; 17(1): 49.

BACKGROUND: Quantitative measures of autism spectrum disorder (ASD)-related traits can provide insight into trait presentation across the population. Previous studies have identified epigenomic variation associated with ASD diagnosis, but few have evaluated quantitative traits. We sought to identify DNA methylation patterns in child blood associated with Social Responsiveness Scale score, Second Edition (SRS). METHODS: We conducted an epigenome-wide association study of SRS in child blood at approximately age 5 in the Study to Explore Early Development, a case-control study of ASD in the United States. We measured DNA methylation using the Illumina 450K array with 857 samples in our analysis after quality control. We performed regression of the M-value to identify single sites or differentially methylated regions (DMRs) associated with SRS scores, adjusting for sources of biological and technical variation. We examined methylation quantitative trait loci and conducted gene-ontology-term pathway analyses for regions of interest. RESULTS: We identified a region about 3.5 kb upstream of ZFP57 on chromosome 6 as differentially methylated (family-wise error rate [fwer] < 0.1) by continuous SRS T-score in the full sample (N = 857; fwer = 0.074) and among ASD cases only (N = 390; fwer = 0.021). ZFP57 encodes a transcription factor involved in imprinting regulation and maintenance, and this DMR has been previously associated with ASD in brain and buccal samples. CONCLUSIONS: Blood DNA methylation near ZFP57 was associated (fwer < 0.1) with SRS in the full population sample and appears to be largely driven by trait heterogeneity within the autism case group. Our results indicate DNA methylation associations with ASD quantitative traits are observable in a population and provide insights into specific biologic changes related to autism trait heterogeneity.

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5. Kolukisa T, Cinar N. Mothers of children with autism spectrum disorder: Their views on their children’s hospital experiences, expectations from nurses, and a hospital environment sensitive to differences – A qualitative study. Arch Psychiatr Nurs. 2025; 57: 151912.

PURPOSE: Children with Autism Spectrum Disorder (ASD) tend to require healthcare services more frequently than their neurotypical peers. With the increasing prevalence and high rates of medical comorbidities, it has become increasingly important for healthcare providers and care systems to meet the healthcare requirements of children with ASD. This study aims to examine the hospital experiences of mothers raising children with ASD, their expectations from nurses, and their views on a hospital environment sensitive to differences. MATERIAL AND METHODS: A qualitative research framework was used in this study, drawing from phenomenology. The study population consisted of mothers with children aged 2-6 years with ASD in three different provinces across three geographical regions of Turkey. The study sample consisted of 30 mothers whose children had an autism diagnosis based on the DSM-V criteria and met the inclusion requirements. RESULTS: After analyzing the obtained data during the interviews, three themes and 36 codes were identified. The themes are as follows: Evaluations of Autism Spectrum Disorder, Evaluations of Nursing Care, and Recommendations. CONCLUSION: Given the high prevalence of ASD and the documented challenges that children with ASD encounter in accessing healthcare services, this research aims to enhance the quality of hospital care for children with ASD, offering valuable insights.

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6. Lin HT, Fan LY, Cheng CY, Chou TL, Gau SS. Developmental differences in neural correlates of semantic processing and executive performances between autistic boys and non-autistic boys. J Formos Med Assoc. 2025.

BACKGROUND: Previous studies have separately investigated neural alterations during semantic judgments and executive functions in autism without extensively exploring their interrelations. Understanding the relationship between semantic processing and executive function is important for the autistic population due to the significant impacts of both domains. METHODS: 54 autistic boys and 56 age-, handedness-, and IQ-matched non-autistic boys were assessed with semantic judgment tasks during fMRI scans, assessments using the Cambridge Neuropsychological Test Automated Battery (CANTAB), and evaluations with the Behavior Rating Inventory of Executive Function. Regression analysis was conducted to explore correlations between neural activation during semantic processing and executive functions. RESULTS: Neuroimaging identified a significant age (child, adolescent) x group (autistic, non-autistic) interaction in the left anterior prefrontal cortex. This neural alteration exhibited a negative association with executive functions in autistic children, whereas a positive correlation was observed in non-autistic children and adolescents. CONCLUSIONS: Our findings implicate a developmental alteration in the left anterior prefrontal cortex related to semantic processing in autistic youths, with these changes differentially associated with executive functions across autistic and non-autistic groups. These findings elucidate the interplay between the semantic networks and executive functions in autistic youths.

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7. Liu W, Gong X, Ou J, Chen S. Burden and inequality of autism spectrum disorders in global, East asian, and Southeast Asian regions, 1990-2021: result from the global burden of disease study 2021. BMC Public Health. 2025; 25(1): 2810.

INTRODUCTION: Autism Spectrum Disorders (ASD) represent a range of neurodevelopmental conditions characterized by abnormal behavioral patterns. ASD is frequently comorbid with other neurodevelopmental disorders. However, there remains a gap in research on the burden of ASD in East and Southeast Asia. METHODS: We stratified the analysis by region, country, age, and sex; used the Sociodemographic Index (SDI) as a pivot to examine the relationship between the burden of autism and SDI through frontier analysis and health inequality analysis; and finally projected global, sex-specific trends in ASD disease burden from 2022 to 2050. RESULT: The global burden of ASD, including in East and Southeast Asia, has exhibited a generally increasing trend over recent decades. Japan demonstrated a relatively high ASD burden. The analysis revealed that females tend to experience a higher burden than males, and ASD is more prevalent among younger age groups. A positive correlation was observed between SDI and ASD burden, with higher SDI levels associated with greater burden. Health inequality analyses indicated that while ASD prevalence and Years Lived with Disability (YLDs) are predominantly concentrated in high-SDI countries, incidence rates are higher in low-SDI regions. Finally, the global burden of ASD among both males and females is projected to continue rising through the year 2050. CONCLUSION: The burden of ASD in East and Southeast Asia continues to increase year by year. High-SDI countries tend to report a greater disease burden. From 1990 to 2021, nearly all countries in the region experienced a continuous rise in ASD burden. Although there is a growing trend of ASD incidence shifting toward low-SDI countries, prevalence and years lived with disability (YLDs) remain predominantly concentrated in high-SDI countries. Finally, the global burden of ASD among both males and females is projected to continue rising through 2050.

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8. Mirahmadi M, Kahani SM, Sharifi-Zarchi A, Firouzabadi SG, Behjati F, Garshasbi M. Genetic Heterogeneity of Autism Spectrum Disorder: Identification of Five Novel Mutations (RIMS2, FOXG1, AUTS2, ZCCHC17, and SPTBN5) in Iranian Families via Whole-Exome and Whole-Genome Sequencing. Biochem Genet. 2025.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by abnormal social interactions, verbal communication difficulties, and restricted repetitive behaviors. Identifying the underlying genetic factors is crucial because of the complex genetic and environmental etiology. In this study, we performed whole-exome sequencing (WES), whole-genome sequencing (WGS), and array comparative genomic hybridization (aCGH) of four Iranian families with ASD-related conditions to identify novel genomic alterations. Five previously undescribed mutations were identified in these families. Family 1: A homozygous 290.7 kb deletion CNV (chr8:103,652,204-103942926; hg38) encompassing exons 2-16 of RIMS2 (NM_001348484), confirmed in a 7-year-old male proband with developmental delay and cone-rod synaptic disorder. Family 2: A heterozygous nonsense mutation in FOXG1 (NM_005249.5:c.839C > A; p.Ser280Ter) in a 6-year-old female with Rett-like features, resulting in a truncated protein lacking corepressor domains. Family 3: A splice donor site mutation in AUTS2 (NM_015570.4:c.742 + 1G > C) in a 10-year-old female with ASD and Attention-deficit/hyperactivity disorder, generating a frameshift and premature stop codon affecting mRNA-binding functionality. Family 4: A heterozygous nonsense mutation in ZCCHC17 (NM_016505.4:c.220C > T; p.Arg74Ter) and a splicing variant in SPTBN5 (NM_016642.4:c.3470 + 2T > A) in two male siblings with ASD were predicted to result in truncated proteins and aberrant splicing. Pathogenicity was supported through in silico analyses and structural modeling using I-TASSER, and segregation was confirmed using Sanger sequencing. This study highlights the genetic diversity of ASD and underscores the importance of advanced sequencing technologies in identifying novel mutations. Our findings contribute to the growing body of knowledge regarding the genetic basis of ASD, paving the way for personalized treatment strategies and early diagnosis.

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