1. Farhat T, Akram S, Rashid M, Jaffar A, Bhatti SM, Iqbal MA. A deep learning-based ensemble for autism spectrum disorder diagnosis using facial images. PLoS One;2025;20(4):e0321697.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder leading to an inability to socially communicate and in extreme cases individuals are completely dependent on caregivers. ASD detection at early ages is crucial as early detection can reduce the effect on social impairment. Deep learning models have shown capability to detect ASD earlier compared to traditional detection methods used by clinics and experts. Ensemble models, renowned for their ability to enhance predictive performance by combining multiple models, have emerged as a powerful tool in machine learning. This study harnesses the strength of ensemble learning to address the critical challenge of ASD diagnosis. This study proposed a deep ensemble model leveraging the strengths of VGG16 and Xception net trained on Facial Images for ASD detection overcoming limitations in existing datasets through extensive preprocessing. Proposed model preprocessed the training dataset of facial images by converting side posed images into frontal face images, using Histogram Equalization (HE) to enhance colors, data augmentation techniques application, and using the Hue Saturation Value (HSV) color model. By integrating the feature extraction strengths of VGG16 and Xception with fully connected layers, our model has achieved a notable 97% accuracy on the Kaggle ASD Face Image Dataset. This approach supports early detection of ASD and aligns with Sustainable Development Goal 3, which focuses on improving health and well-being.

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2. Hernandez-Ruiz E. Parental Demand, Learning, and Satisfaction With Virtual Parent Coaching of Music Interventions. J Music Ther;2025 (Jan 10);62(1)

Virtual music therapy services became common during the COVID-19 pandemic and have remained a viable option for communities with access barriers. Parent coaching is a specific intervention where primary caregivers learn evidence-based strategies to support their children’s development. Virtual music parent coaching has initial evidence of feasibility for families of autistic children. In this study, we used quantitative and qualitative measures to evaluate an 8-week parent coaching program. Feasibility aspects included parental demand, retention, learning, and satisfaction, interventionist’s fidelity to the coaching program, and primary caregiver perspectives of outcomes, challenges, and benefits. Results indicated that caregivers learned about the research opportunity mainly through social media, with much lower response to email invitations. Eleven participants enrolled in the study, but 7 completed the program, for a 64% retention rate. Main reasons to drop out were time constraints and other responsibilities. Parents reported a high level of satisfaction and appropriate learning, as well as meaningful changes in their child’s communication, understanding their child better, and valuing the accessibility and flexibility of the virtual modality. An interventionist with limited specialized training in autism but appropriate clinical experience achieved fidelity in the parent coaching model quickly. Caregivers’ recommendations for improvement included providing recorded examples of the music and tailoring the written materials to each family. Suggestions for future research and practice include prioritizing social media as recruiting medium, evaluating parental disposition and time availability before initiating the program, considering siblings’ needs, investigating cost effectiveness, and emphasizing the interventionist’s collaborative approach with the parent.

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3. Hswen Y, Collins N. How AI Could Improve Health Care for People With Intellectual and Developmental Disabilities. Jama;2025 (Apr 22);333(16):1377-1379.

This Medical News article is an interview with Dimitri Christakis, MD, MPH, chief health officer at Special Olympics International. eng

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4. Hu Q, Yang X, Mao Q. The causal relationship between six mental disorders and breast cancer risk: A two-sample Mendelian randomization study. Medicine (Baltimore);2025 (Apr 18);104(16):e42209.

Psychological disorders such as schizophrenia, bipolar disorder (BD), major depressive disorder (MDD), attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and anxiety disorder (AD) are widespread. Mendelian randomization (MR) was used in this study in order to investigate possible causal relationships between psychiatric disorders and breast cancer (BC). We employed publicly accessible summary statistics from extensive genome-wide association studies to identify, perform quality control, and cluster genetic variant loci linked to schizophrenia, ADHD, MDD, ASD, BD, AD, and BC as instrumental variables. The MR analysis utilized inverse variance weighting, MR-Egger regression, and weighted median estimation to assess the causal links between psychiatric disorders and BC. Additionally, heterogeneity and sensitivity tests were conducted to ensure the robustness of inverse variance weighting results. According to the results of the two-sample MR analysis, schizophrenia, BD, MDD, ADHD, ASD are not causally linked to BC. According to the results of the two-sample MR analysis, schizophrenia, BD, MDD, ADHD, ASD are not causally linked to BC. But there is a causal relationship between AD and BC. The MR analysis showed no evidence of a causal relationship between schizophrenia, BD, MDD, ADHD, ASD, and BC risk. However, research found a genetic causal relationship between AD and BC, and it is positively correlated.

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5. Ju J, Pan Y, Yang X, Li X, Chen J, Wu S, Hou ST. The « don’t eat me » signal CD47 is associated with microglial phagocytosis defects and autism-like behaviors in 16p11.2 deletion mice. Proc Natl Acad Sci U S A;2025 (Apr 22);122(16):e2411080122.

Various pathological characteristics of autism spectrum disorder (ASD) stem from abnormalities in brain resident immune cells, specifically microglia, to prune unnecessary synapses or neural connections during early development. Animal models of ASD exhibit an abundance of synapses in different brain regions, which is strongly linked to the appearance of ASD behaviors. Overexpression of CD47 on neurons acts as a « don’t eat me » signal, safeguarding synapses from inappropriate pruning by microglia. Indeed, CD47 overexpression occurs in 16p11.2 deletion carriers, causing decreased synaptic phagocytosis and the manifestation of ASD characteristics. However, the role of CD47 in synaptic pruning impairment leading to ASD phenotypes in the 16p11.2 deletion mouse model is unclear. Moreover, whether blocking CD47 can alleviate ASD mice’s behavioral deficits remains unknown. Here, we demonstrate a strong link between increased CD47 expression, decreased microglia phagocytosis capacity, and increased impairment in social novelty preference in the 16p11.2 deletion mice. The reduction in microglia phagocytosis caused a rise in excitatory synapses and transmission in the prefrontal cortex of 16p11.2 deletion mice. Importantly, blocking CD47 using a specific CD47 antibody or reducing CD47 expression using a specific short hairpin RNA (shRNA) enhanced the microglia phagocytosis and reduced excitatory transmission. Reduction in CD47 expression improved social novelty preference deficits in 16p11.2 mice. These findings demonstrate that CD47 is associated with the ASD phenotypes in the 16p11.2 deletion mice and could be a promising target for the development of treatment for ASD.

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6. Kurumada C, Rivera R, Allen P, Bennetto L. Publisher Correction: Perception and adaptation of receptive prosody in autistic adolescents. Sci Rep;2025 (Apr 22);15(1):13892.

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7. Lipszyc RT, Rodda CP, Wright M, Duckham RL. The Determinants of Bone Health in Children With Autism Spectrum Disorder: A Systematic Narrative Review. J Paediatr Child Health;2025 (Apr 22)

Autism spectrum disorder (ASD) is a complex disorder associated with social and communication impairments and repetitive and restrictive behavioural patterns. Children with ASD often present with concurrent conditions, including poor bone health, which affect long-term health. Although there is compelling evidence to suggest that children with ASD have poorer bone traits than typically developing children, the primary factors associated with these differences are unclear. This review will explore the potential role that factors such as physical activity, nutrition (calcium, protein, vitamin C, vitamin D) and lifestyle (sleep, medication) play on bone health in children with ASD. Having a greater understanding of the influencing factors of low BMD and how these might interact in a synergistic manner in ASD children will provide an opportunity to develop targeted interventions to improve bone health aiming to avert attainment of suboptimal peak bone mass which may lead to early onset osteoporosis, fracture and muscle deconditioning in this paediatric population.

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8. Liu S, Wu D, Li J, Yin H. Latent profile analysis of parental burnout among parents of children with and without autism spectrum disorder. Front Psychol;2025;16:1581321.

BACKGROUND: Parental burnout is an emerging global focus on parental mental health and parenting practices. However, parental burnout among parents of children with autism spectrum disorder (ASD) in China remains largely unexplored. OBJECTIVE: This study aimed to identify differences in parental burnout severity and patterns between Chinese parents raising children with and without ASD, while exploring key sociodemographic factors contributing to these disparities. METHODS: In total, 1,048 Chinese parents (including 487 parents of children with ASD) were recruited to take part in an online survey. The participants completed the Chinese version of Brief Parental Burnout Assessment and Brief Demographic Questionnaire. For data analysis, Latent Profile Analysis (LPA) was employed to identify distinct burnout profiles, followed by multivariate logistic regression to examine the association between sociodemographic factors and profile membership. RESULTS: The LPA revealed distinct classification patterns between the two groups: parents of children with ASD demonstrated three subgroups (Low, Medium, and High parental burnout profiles), while parents of children without ASD exhibited only two subgroups (Low, Medium parental burnout profiles). Multivariate logistic regression analysis found that mothers, parents with two or more children, parents with younger children, and parents of children with severe ASD were associated with high parental burnout profiles. CONCLUSION: Parents of children with ASD were more likely to experience higher levels of parental burnout. It highlights an urgency for targeted interventions to different burnout subgroups of parents having children with ASD.

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9. Mazuz Y, Hadad BS, Ganel T. Intact Susceptibility to Visual Illusions in Autistic Individuals. Autism Res;2025 (Apr 21)

Altered sensory perception, a core characteristic of autism, has been attributed to attenuated use of stimuli context or prior information in perception. Reduced susceptibility to perceptual illusions was extensively used to support these accounts for autistic perception. However, empirical evidence has been inconsistent. The current study systematically investigated susceptibility to size illusions in autistic and non-autistic individuals using a standardized psychophysical battery. Eighty-one participants, 41 autistic and 40 non-autistic individuals, completed the Ben-Gurion University Test for Perceptual Illusions (BTPI), measuring susceptibility to the Ponzo, Ebbinghaus, and Height-width illusions. The results demonstrate clear evidence for susceptibility to illusions in the perception of size both in the autistic and non-autistic groups. No significant differences were found between groups in the magnitude of illusion on the perceived size, or on the perceptual resolutions of size (discrimination thresholds) in any of the illusory settings tested. The results challenge current theories suggesting reduced reliance on priors or enhanced sensory measurement in autism. Instead, using robust psychophysical methods, the study provides clear evidence for autistic people forming priors and using long-term knowledge in perception.

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10. Ozler E, Sanlier N. Nutritional Approaches in Autism Spectrum Disorder: A Scoping Review. Curr Nutr Rep;2025 (Apr 22);14(1):61.

PURPOSE OF REVIEW: This review was conducted to discuss the etiology of autism in the light of current information, to draw attention to the fact that defects in different biological mechanisms cause autism, and to examine the effectiveness of dietary interventions and supplements in relieving ASD symptoms. RECENT FINDINGS: Autism spectrum disorder (ASD) is an extremely heterogeneous condition characterized by delays in reciprocal social interaction and communication skills, stereotyped behaviors, and a narrowed range of interests and limited activities. Comorbid conditions such as cognitive impairment, epilepsy, psychiatric diseases, and behavioral symptoms such as impaired social communication, repetitive behaviors, lack of interest in the environment, nutritional disorders, gastrointestinal diseases and abnormal (dysbiotic) states, sleep disorders, and dysmorphism are frequently encountered in individuals with ASD. Although nutrition is one of the environmental factors affecting ASD, it can also be effective in alleviating the behavioral and gastrointestinal symptoms of ASD. Various dietary models (GFCF diet, low glycemic index diet, ketogenic diet, specific carbohydrate diet, Mediterranean diet, GAPS, Feingold, Candida body ecology, allergy elimination diets, etc.) and supplements (vitamin D, polyunsaturated fatty acids, probiotics and prebiotics, phytochemicals) can be used to alleviate symptoms in individuals with ASD. The effectiveness and reliability of dietary interventions in individuals with ASD are a matter of significant debate, and the evidence for these practices is limited. Furthermore, there is no consensus on establishing an ideal nutritional model for individuals with ASD.

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11. Pomoni M, Harris G, Coulthard H. The Development of the Food Averse Questionnaire: A Measure of Food Avoidance in Children With and Without Autistic Spectrum Conditions. Matern Child Nutr;2025 (Apr 22):e70025.

The aim of this study was to 1) develop a measure of avoidant eating behaviours for both typically developing children (TD), and those with Autism Spectrum Conditions (ASC), and 2) to examine whether these current behaviours are associated with reports of early feeding difficulties in both populations. In study one (n = 336) parents of 4- to 14-year-old children completed a series of questions about food avoidance. Three subscales of food avoidance were identified with a total scale of 31 items; avoidant, rigid-inflexible, and texture sensitive. Analyses found that scores on these subscales were associated with related measures of picky eating, food neophobia, sensory sensitivity and cognitive inflexibility, as well as lower fruit, vegetable, dairy and protein consumption. In study two, 225 children aged 4-14 years and their parents were recruited (143 TD and 78 ASC). Children with ASC were more likely to have feeding problems during the transition to family foods and in the toddler eating period in comparison to TD children. Additionally, children with ASC showed, at the time of the study, higher avoidance, rigid-inflexible eating and texture-sensitive eating behaviours than TD children. This study has developed a reliable scale for food avoidance for children with and without ASC diagnoses. Food avoidance is more severe in children with ASC than in TD children and these difficulties may start before them receiving an ASC diagnosis. Further work is needed to examine the usefulness of this scale in clinical and nonclinical populations.

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12. Sznajder Ł J, Khan M, Ciesiołka A, Tadross M, Nutter CA, Taylor K, Pearson CE, Lewis MH, Hines RM, Swanson MS, Sobczak K, Yuen RKC. Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes. Nat Neurosci;2025 (Apr 21)

Genome-wide enrichment of gene-specific tandem repeat expansions has been linked to autism spectrum disorder. One such mutation is the CTG tandem repeat expansion in the 3′ untranslated region of the DMPK gene, which is known to cause myotonic muscular dystrophy type 1. Although there is a clear clinical association between autism and myotonic dystrophy, the molecular basis for this connection remains unknown. Here, we report that sequestration of MBNL splicing factors by mutant DMPK RNAs with expanded CUG repeats alters the RNA splicing patterns of autism-risk genes during brain development, particularly a class of autism-relevant microexons. We demonstrate that both DMPK-CTG expansion and Mbnl null mouse models recapitulate autism-relevant mis-splicing profiles, along with social behavioral deficits and altered responses to novelty. These findings support our model that myotonic dystrophy-associated autism arises from developmental mis-splicing of autism-risk genes.

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13. Takeuchi T, Enokizono T, Tanaka M, Jin T, Takahashi Y, Takada H. A boy with autism spectrum disorder with antibodies to the NMDA-type glutamate receptor: nine-year follow-up, changes in cognitive function　. Child Neuropsychol;2025 (Apr 22):1-8.

Herein, we report a 12-year-old boy with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) who showed a cognitive decline at age 7 and tested positive for cerebrospinal fluid (CSF) N-methyl-D-aspartate (NMDA)-type glutamate receptor (GluR) antibodies using an enzyme-linked immunosorbent assay (ELISA). His cognitive function developed between ages 3 and 5, reaching a total domain developmental quotient (DQ) of 61 on the revised Kyoto Scale of Psychological Development 2001. Despite multiple treatments, his total domain DQ declined to 21 at 10 years and 3 months of age and further to 16 at 12 years and 0 month. The child regressed in cognitive function, losing previously acquired knowledge and skills, resulting in an unbalanced profile. Previously recorded strengths, weaknesses, and preferences were no longer evident. The anti-NMDA-type GluR antibodies might hinder the regaining of cognitive functions once lost and the reconstruction of developmental characteristics in patients with ASD/ADHD. Patients with ASD and ADHD who test positive for NMDA-type GluR antibodies (ELISA) may not follow a typical clinical course.

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14. Torres EB, Vero J, Drain N, Rai R, Bermperidis T. Hidden social and emotional competencies in autism spectrum disorders captured through the digital lens. Front Psychiatry;2025;16:1559202.

BACKGROUND/OBJECTIVES: The current deficit model of autism leaves us ill-equipped to connect with persons on the spectrum, thus creating disparities and inequalities in all aspects of social exchange in which autistic individuals try to participate. Traditional research models also tend to follow the clinical definition of impairments in social communication and emotions without offering personalized therapeutic help to autistic individuals. There is a critical need to redefine autism with the aim of co-adapting and connecting with this exponentially growing sector of society. Here, we hypothesize that there are social and emotional competencies hidden in the movements’ nuances that escape the naked eye. Further, we posit that we can extract such information using highly scalable means such as videos from smartphones. METHODS: Using a phone/tablet app, we recorded brief face videos from 126 individuals (56 on the spectrum of autism) to assess their facial micro-motions during several emotional probes in relation to their resting state. We extracted the micro-movement spikes (MMSs) from the motion speed along 68 points of the OpenFace grid and empirically determined the continuous family of probability distribution functions best characterizing the MMSs in a maximum likelihood sense. Further, we analyzed the action units across the face to determine their presence and intensity across the cohort. RESULTS: We find that the continuous Gamma family of probability distribution functions describes best the empirical face speed variability and offers several parameter spaces to automatically classify participants. Unambiguous separation at rest denotes marked differences in stochastic patterns between neurotypicals and autistic individuals amenable to further separate autistic individuals according to the required level of support. Both groups have comparable action units present during emotional probes. They, however, operate within parameter ranges that fall outside our perceptual umwelt and, as such, do not meet our expectations from prior experiences. We cannot detect them. CONCLUSIONS: This work offers new methods to detect hidden facial features and begin the path of augmenting our perception to include those signatures of the autism spectrum that can enhance our capacity for social interactions, communication, and emotional support to meet theirs.

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15. Usher R, Currans K, Wallis K, Bennett A, Miller JS. Evaluating More Granular Options for Socio-Demographic Questions in Autism Research. Autism Res;2025 (Apr 21)

We evaluated the feasibility and acceptability of adding more detailed choices for race, ethnicity, sex, gender, and socio-economic status for a demographic survey used by families both within and outside a large learning health network, the Autism Care Network (ACNet). We updated our demographic survey using an iterative approach, incorporating qualitative and quantitative feedback from interested parties across the US and Canada. Pilot testing of the revised survey was conducted with families with and without autism served by two large academic pediatric tertiary care centers. Through purposive sampling, recruitment was enriched for families from ethnic, racial, or gender minority backgrounds. The updated demographic survey increased the number of response options for race and ethnicity, sex, gender, and language. 85 families within the ACNet and 242 families outside the ACNet provided feasibility and acceptability data. 41% of respondents were from nonWhite or multiple race groups. 99% of respondents rated the updated form same or better than the original. 91% of respondents rated the updated form as acceptable, while 97% rated the survey as feasible. Despite concerns about the burden on respondents, we found high rates of feasibility and acceptability of more granular response options in demographic surveys. Researchers can adapt this approach to make their own more granular demographic forms focused on the specific variables relevant to their study and local contexts. More granular demographic data can identify strengths and gaps in representation that could impact a study’s generalizability.

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