1. Acerbi da Silva LN, Stumpp T. Bioinformatic Analysis of Autism-Related miRNAs and Their PoTential as Biomarkers for Autism Epigenetic Inheritance. Genes (Basel);2025 (Mar 31);16(4)

BACKGROUND/OBJECTIVES: The dysregulation of miRNA expression in samples from autistic individuals indicates that they are involved in autism. The participation of miRNAs in paternal epigenetic inheritance has also been reported. This study used bioinformatics tools to analyze the literature and genetic databases to search for miRNAs associated with autism, aiming to explore their suitability to investigate paternal epigenetic inheritance. METHODS: Autism-related miRNAs were searched in public databases using bioinformatic tools (miRNA-to-genes analysis). The genes targeted by these autism-related miRNAs, which are common to neurons, sperm, and PBMCs, were identified. Enrichment analyses were performed to identify the biological processes regulated by the candidate miRNAs. Autism-related miRNAs were also identified by an inverse analysis (genes-to-miRNA analysis), starting from autism-related genes. RESULTS: In the miRNA-to-gene analysis, 416 miRNAs involved in autism were found, of which 77 were expressed in sperm, PBMCs, and neurons. From these, 18 were differentially expressed in the brain and in at least one peripheral sample (saliva or blood), suggesting that they might be suitable to be used in the investigation of autism biomarkers and inheritance. In the genes-to-miRNA analysis, 36 miRNAs were identified, from which 9 coincided with the results of direct analysis. CONCLUSIONS: Although there is no consensus about miRNAs related to autism, there are candidate miRNAs that show clear potential to be explored as biomarkers. The coincidence in the expression of miRNAs in sperm, neurons, and PBMCs indicates that they are valuable biological samples to study the role of miRNAs in the paternal epigenetic inheritance of autism.

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2. Akdeniz G. Delta and Theta Band Power Alterations During Face and Face Pareidolia Perception in Children with Autism Spectrum Disorder: An Electroencephalographic Analysis. Medicina (Kaunas);2025 (Apr 19);61(4)

Background and Objectives: Autism Spectrum Disorder (ASD) is characterized by a range of deficits across cognitive, sensory, motor, emotional, language, and social domains, which can significantly hinder daily functioning and social interactions. This study explores the differences in brain activity between children with ASD and typically developing peers, focusing on their responses to face and face pareidolia stimuli. Materials and Methods: A group comprising ten typically developing children (four males, six females), aged between 6 and 16 years, alongside eleven children diagnosed with ASD (three males, eight females), whose ages ranged from 6 to 15 years, were engaged in the pilot study. We recorded brain electrical activity using electroencephalography (EEG) while participants viewed images of face and face pareidolia images. Following face and pareidolia stimulus presentation, delta and theta powers in the 0.5-4 Hz and 4-6 Hz frequency ranges and within the 140-190 ms time window were analyzed for both typically developing children and children with ASD. Results: The research result reveals that children with ASD show lower amplitude and delayed latency in their EEG responses, particularly in the theta and delta frequency bands, when processing images that evoke face pareidolia. Conclusions: The findings suggest that while children with ASD face challenges in recognizing faces, they may still possess some perceptual abilities that could be harnessed for therapeutic interventions. Moreover, this research highlights the potential of the face pareidolia paradigm to provide insights that could inform future strategies aimed at enhancing social attention and interaction skills in children with ASD. Despite the limitations of the current sample size, this study provides a valuable foundation for future investigations. Expanding the participant pool will be crucial for confirming and generalizing these findings.

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3. Bendimered A, Cherif R, Iguernaissi R, Nawaf MM, Thümmler S, Dubuisson S, Merad D. The Feasibility of RGB-D Gaze Intention Measurement in Children with Autism Using Azure Kinect. Bioengineering (Basel);2025 (Apr 1);12(4)

Gaze interpretation is a fundamental aspect of social communication, especially for children with autism spectrum disorder (ASD), who frequently encounter many difficulties in social interactions. Despite the considerable advances made in gaze tracking technologies, such as those based on RGB and RGB-D, the accurate measurement of gaze direction remains a significant scientific challenge. This paper proposes a novel approach utilizing the Azure Kinect to improve the measurement of gaze intention in children with ASD, providing accurate estimations of both gaze direction and head position. To evaluate the effectiveness of the proposed methodology, an experimental trial was conducted with eight participants of varying statures. The intersection of the estimated gaze with the target plane was also analyzed throughout 38-min sessions. The results demonstrated high accuracy, with a minimum angular error of 2.5° using pupil positions, 2.06° using head orientation, and average errors of 4.46° and 3.19°, respectively. This approach was tested on a dataset of children with ASD to track their gaze towards a clinician, as this information is essential for assessing the children’s social intent and interactions with others, facilitating more precise clinical assessments for children with autism.

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4. Browne JM, Reega SJ, Rankins EM, Schmid AA, Peters BC. The Acceptability of Occupational Therapy Using Zones of Regulation™ Concepts in an Equine Environment to Autistic Children. Behav Sci (Basel);2025 (Apr 8);15(4)

Autistic children often have impaired self-regulation which can impact daily functioning and life outcomes. Occupational Therapy Using Zones of Regulation™ Concepts in an Equine Environment (OT-ZOR-Equine) is a standardized intervention that integrates both the Zones of Regulation™ curriculum and horses into occupational therapy to address self-regulation in autistic children. We aimed to assess the acceptability of OT-ZOR-Equine to participating autistic children. A qualitative descriptive research study was conducted with six autistic children ages 7-9 years who received ten weeks of OT-ZOR-Equine. Children participated in semi-structured interviews that used questions guided by the Theoretical Framework of Acceptability. We analyzed interview transcripts using directed content analysis. Autistic children found OT-ZOR-Equine to be generally acceptable. The children especially enjoyed horse riding but found the Zones of Regulation™ curriculum and certain aspects of riding to be less acceptable. Tailoring OT-ZOR-Equine to integrate each client’s preferences and needs may make this intervention more acceptable to autistic children. The findings of this study support the continued use of and research on OT-ZOR-Equine or similar occupational therapy interventions that integrate horses to influence self-regulation in autistic children.

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5. Domarecki P, Plata-Nazar K, Sohl K. An Assessment of the Knowledge of Autism Spectrum Disorder Among Polish Primary Care Physicians. Medicina (Kaunas);2025 (Apr 21);61(4)

Background and Objectives: In light of the growing need to incorporate primary care physicians (PCPs) in the complex care system for autistic patients, this study aims to assess the level of physicians’ knowledge of the autism spectrum in Poland. Materials and Methods: After a literature review, an online survey consisting of 20 items assessing the knowledge of autism etiology, diagnosis criteria, and patient support was developed. Of 250 invitations, 166 physicians filled out the form (a 66.4% response rate). For the statistical analysis, the normal distribution was excluded for all data based on the Shapiro-Wilk test. The U-Mann-Whitney test was performed for two variables to verify the comparison of variables. The threshold of statistical significance was at the level of p = 0.05. Results: Correct responses regarding autism etiology, diagnosis, and support were 37.95%, 42.69%, and 70.05%, respectively. Female physicians presented a higher level of knowledge regarding all categories. The level of general knowledge is statistically higher in pediatricians than in general practitioners, and the knowledge of physicians in training is higher in contrast to specialists. The knowledge of physicians from small towns, as well as physicians with more clinical experience, was low. Conclusions: This study revealed an insufficient level of knowledge relating to autism spectrum disorder among primary care physicians, which is similar to the findings of other studies conducted in different regions of the world. The lack of knowledge is especially evident in the theoretical preparation of physicians regarding ASD.

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6. Farmiloe G, Bejczy V, Tabolacci E, Willemsen R, Jacobs F. Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome. J Neurodev Disord;2025 (Apr 26);17(1):22.

BACKGROUND: Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the expansion of a CGG repeat in the 5’UTR of the FMR1 (fragile X messenger ribonucleoprotein 1) gene. Healthy individuals possess a repeat 30-55 CGG units in length. Once the CGG repeat exceeds 200 copies it triggers methylation at the locus. This methylation covers the FMR1 promoter region and silences expression of the gene and the production of FMRP (fragile X messenger ribonucleoprotein). The loss of FMRP is responsible for a number of pathologies including neurodevelopmental delay and autism spectrum disorder. Methylation of the expanded repeat in the FMR1 locus is the causal factor for FXS, however it is not known why the expanded repeat triggers this epigenetic change or how exactly DNA methylation is established. Intriguingly, genetic engineering of expanded CGG repeats of over 300 copies in the FMR1 locus in mice remains unmethylated. Also in humans, in very rare cases, individuals can have an FMR1 CGG expansion > 200 copies but the locus remains unmethylated. These unmethylated full mutation (UFM) individuals give us a rare opportunity to investigate the mechanism of FMR1 promoter methylation. METHODS: Fibroblasts were obtained from a healthy control, an FXS patient and two unmethylated full expansion carriers. RNA was extracted and comparative transcriptomic analysis was performed on all samples. Whole genome sequencing was carried out on DNA from the two UFM carriers and the results analysed to investigate DNA variants that could explain the observed differences in gene expression. RESULTS: Our analyses focused on genes involved in epigenetic modification. We show that Tet methylcytosine dioxygenase 3 (TET3), a gene involved in DNA methylation, is significantly downregulated in UFM carriers compared to healthy controls or FXS patient derived cells. Genomic analyses reveal a number of rare variants present in the TET3 locus in UFM carriers when compared to the reference genome. However, no clear modifying TET3 variants were identified. CONCLUSION: Our results suggest that TET3 is a candidate factor responsible for the lack of methylation of the expanded FMR1 locus. Further analyses are needed to further elucidate this relationship, however given its potential to directly interact with CGG repeats and its ambiguous role in 5-hydroxy-methylation of CG containing sequences, TET3 is a strong candidate for further exploration.

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7. Han F, Gao X. The Challenge Coping and Resilience of the Families of School-Aged Children with Autism Spectrum Disorder in China: A Qualitative Study. Behav Sci (Basel);2025 (Mar 23);15(4)

This study aimed to explore the dynamic adjustment mechanisms of the families of school-aged children with autism spectrum disorder (ASD) in China in coping with challenges, focusing on the roles of belief systems, organizational processes, and communication strategies, as well as the influence of the China-specific cultural and policy contexts. Based on Walsh’s family resilience theory, a qualitative research methodology was used, with semi-structured interviews to collect experience data from these families, and thematic analysis was used to summarize the main challenges and coping processes. The study found that the families mainly faced the following challenges: difficulties in family care, parenting burnout, educational plights, and inadequate community support systems. Regarding belief systems, families enhanced their resilience through emotional acceptance and redefined expectations; regarding organizational processes, families optimized their internal operations through the flexible division of labor and decision-making patterns and actively mobilized external resources; and, regarding communication, reflection and sharing fostered emotional connection within the family, while compromise and patience enhanced the ability to integrate external resources. In addition, the traditional Chinese culture and inadequate policy support had a significant impact on the formation of family resilience. This study validates the cross-cultural applicability of family resilience theory and suggests enhancing family resilience through psychological support, policy optimization, and social advocacy.

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8. L’Erario FF, Gazzellone A, Contaldo I, Veredice C, Carapelle M, Renzi AG, Modafferi C, Palucci M, D’Ambrosio P, Sonnini E, Loberti L, Panfili A, Lucci Cordisco E, Chiurazzi P, Trevisan V, Leoni C, Zampino G, Pomponi MG, Orteschi D, Zollino M, Marangi G. Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy. Genes (Basel);2025 (Apr 20);16(4)

BACKGROUND: Macrocephaly can be a component manifestation of several monogenic conditions, in association with intellectual disability/developmental delay (ID/DD) behaviour abnormalities, including autism spectrum disorders (ASD), and variable additional features. On the other hand, idiopathic ASD can present with developmental delay and macrocephaly. METHODS: We carried out a retrospective analysis of a cohort of 78 patients who were tested from February 2017 to December 2024 by high-throughput sequencing of a panel of 27 genes (ABCC9, AKT1, AKT2, AKT3, BRWD3, DIS3L2, DNMT3A, EZH2, GPC3, GPC4, HERC1, MED12, MTOR, NFIA, NFIX, NSD1, PDGFRB, PIK3CA, PIK3R1, PIK3R2, PPP2R1A, PPP2R5D, PTEN, RAB39B, RNF135, SETD2, and TBC1D7) because of neurodevelopmental impairment, including ID/DD, ASD/behaviour abnormalities associated with macrocephaly, mimicking to a large extent idiopathic ASD. RESULTS: Pathogenic variants leading to the diagnosis of monogenic conditions were detected in 22 patients (28%), including NSD1 (2), PTEN (16), and PPP2R5D (4). Distinctive of the PTEN-associated phenotype were true macrocephaly (100%), ASD or behaviour abnormalities (92%), mild/borderline ID (79%), and no facial dysmorphisms. Typical of the PPP2R5D-associated phenotype were relative macrocephaly (75%), a few unspecific peculiar facial characteristics (50%), and a more variable presentation of the neurodevelopmental phenotype. CONCLUSIONS: Pathogenic variants in PTEN and PPP2R5D are the most recurrent gene mutations in a patient-oriented procedure for the genetic diagnosis of apparently idiopathic ASD and behaviour abnormalities associated with macrocephaly. The clinical applicability of the presented diagnostic strategy is discussed.

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9. Li CV, Knoblich JA. Advancing autism research: Insights from brain organoid modeling. Curr Opin Neurobiol;2025 (Apr 24);92:103030.

Autism Spectrum Disorders (ASD) are characterized by a variety of behavioral symptoms and a complex genetic architecture, posing significant challenges in understanding the mechanistic processes underlying their pathology. Despite extensive research, the mechanisms linking genetic variations to the phenotypic outcomes associated with ASD remain elusive. Consistent evidence indicates disruptions in early brain development among individuals with ASD. The advent of brain organoids offers a unique opportunity for uncovering, how brain development changes in ASD patients. Brain organoids are three-dimensional in vitro model systems derived from pluripotent stem cells that recapitulate early human brain development across multiple biological levels. They have become an invaluable tool for studying human-specific brain development processes and neurodevelopmental disorders. In this review, we discuss recent findings using brain organoid technologies to model ASD and discuss, how these new technologies can enhance our understanding of ASD genetics and pathology at the molecular, cellular, and tissue levels.

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10. Moro M, de Gioia A, D’Amario G, Napoli V, Venezia I, Mirra F, D’Ambrosio M, Venditti R, Sestito S, De Stefano A, Di Domenico S, Romeo D, Mercuri E, Brogna C. Investigating the Overlap of Hikikomori and Autism Spectrum Disorder: A Case Report. Medicina (Kaunas);2025 (Mar 31);61(4)

Hikikomori is a form of social withdrawal lasting more than 6 months with significant associated functional impairment. To date, numerous studies confirm the presence of this condition not only in Japan, where it was first described, but also globally abroad. This is an underestimated clinical condition, and it is emerging especially in adolescents and young adults, representing an increasing management problem for families and society. Prevalence ranges from 1.1% to 6.7%. Hikikomori can be associated with other neurodevelopmental disorders, such as Autism Spectrum Disorder (ASD). Indeed, ASD and hikikomori share numerous characteristics confirmed by functional neuroimaging studies that have highlighted in both conditions the presence of alterations in cerebral regions related to social functioning. We present a case report regarding the history of a 14-year-old girl with characteristics compatible with ASD and hikikomori. At present, there are no specific treatments approved for hikikomori in ASD patients. Further studies are necessary to understand the link between the two conditions, the boundary, and possible overlap.

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11. Papatheodoropoulos C. Compensatory Regulation of Excitation/Inhibition Balance in the Ventral Hippocampus: Insights from Fragile X Syndrome. Biology (Basel);2025 (Mar 31);14(4)

The excitation/inhibition (E/I) balance is a critical feature of neural circuits, which is crucial for maintaining optimal brain function by ensuring network stability and preventing neural hyperexcitability. The hippocampus exhibits the particularly interesting characteristics of having different functions and E/I profiles between its dorsal and ventral segments. Furthermore, the hippocampus is particularly vulnerable to epilepsy and implicated in Fragile X Syndrome (FXS), disorders associated with heightened E/I balance and possible deficits in GABA-mediated inhibition. In epilepsy, the ventral hippocampus shows heightened susceptibility to seizures, while in FXS, recent evidence suggests differential alterations in excitability and inhibition between dorsal and ventral regions. This article explores the mechanisms underlying E/I balance regulation, focusing on the hippocampus in epilepsy and FXS, and emphasizing the possible mechanisms that may confer homeostatic flexibility to the ventral hippocampus in maintaining E/I balance. Notably, the ventral hippocampus in adult FXS models shows enhanced GABAergic inhibition, resistance to epileptiform activity, and physiological network pattern (sharp wave-ripples, SWRs), potentially representing a homeostatic adaptation. In contrast, the dorsal hippocampus in these FXS models is more vulnerable to aberrant discharges and displays altered SWRs. These findings highlight the complex, region-specific nature of E/I balance disruptions in neurological disorders and suggest that the ventral hippocampus may possess unique compensatory mechanisms. Specifically, it is proposed that the ventral hippocampus, the brain region most prone to hyperexcitability, may have unique adaptive capabilities at the cellular and network levels that maintain the E/I balance within a normal range to prevent the transition to hyperexcitability and preserve normal function. Investigating the mechanisms underlying these compensatory responses in the ventral hippocampus and their developmental trajectories may offer novel insights into strategies for mitigating E/I imbalances in epilepsy, FXS, and potentially other neuropsychiatric and neurodevelopmental disorders.

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12. Qi L, Yang J, Niu Q, Li J. Exploring pesticide risk in autism via integrative machine learning and network toxicology. Ecotoxicol Environ Saf;2025 (Apr 24);297:118233.

Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental condition influenced by both genetic and environmental factors, including pesticide exposure. This study aims to investigate the pathogenic mechanisms of ASD and identify potential causative pesticides by integrating bioinformatics, machine learning, network toxicology, and molecular docking approaches. A total of 156 differentially expressed genes (128 upregulated and 28 downregulated) were identified from ASD-related transcriptomic datasets. Using the LASSO algorithm, 23 key targets were initially selected. Each combination of 1-23 targets was used to construct predictive models using eight different machine learning algorithms. The Stochastic Gradient Descent (SGD) model demonstrated the best predictive performance for 20 features, which were defined as hub targets. These targets were subsequently used in a network toxicology framework to screen for associated environmental toxicants. Three pesticide candidates-epoxiconazole, flusilazole, and DEET-were identified as strongly interacting with these core targets. Molecular docking analysis further validated stable binding affinities between these pesticides and the hub targets. Functional enrichment analysis revealed significant involvement of glycosylation-related pathways, including mucin-type O-glycan biosynthesis, implicating potential mechanisms in ASD pathogenesis. Collectively, our findings highlight novel biomolecular links between pesticide exposure and ASD risk, and propose a set of candidate biomarkers and toxicants for further experimental validation and regulatory consideration.

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13. Świeca A, Franaszczyk M, Maryniak A, Lipiński P, Płoski R, Szczałuba K. Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework. Genes (Basel);2025 (Apr 5);16(4)

BACKGROUND: Uniparental disomy (UPD) is the inheritance of both copies of a chromosome from a single parent, leading to distinct genetic conditions. Maternal UPD of chromosome 6 (UPD(6)mat) is extremely rare, with few molecularly confirmed cases reported. METHODS: We report a prematurely born female with isodisomic UPD(6)mat, presenting with intrauterine growth restriction (IUGR), developmental delay, autism spectrum disorder, dysmorphic features, and a sacrococcygeal teratoma. In addition, we reviewed 24 confirmed UPD(6)mat cases to assess clinical patterns in prenatal findings, birth outcomes, and postnatal features. RESULTS: Trio whole-exome sequencing revealed complete isodisomy of chromosome 6 and a de novo heterozygous DIAPH2 variant of uncertain significance. In the literature review, IUGR was present in 87% of cases, with most individuals born small for gestational age and preterm. Failure to thrive and neurodevelopmental issues were also frequent. While the exact molecular basis remains unknown, imprinting disturbances-similar to those in UPD(6)pat-and cryptic trisomy 6 mosaicism, particularly in heterodisomy, are the most likely mechanisms. No specific gene or consistent epigenetic abnormality has been identified. CONCLUSIONS: This study aims to enhance the understanding of the genetic and phenotypic spectrum of UPD(6)mat, improving diagnostic and management approaches for this ultra-rare genetic disorder. We propose a detailed list of clinical assessments and tests to be performed following the detection of maternal uniparental disomy of chromosome 6.

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14. Tateno M, Tateno Y, Shirasaka T, Nanba K, Shiraishi E, Shimomura R, Kato TA. Depression, Gaming Disorder, and Internet Addiction in Adolescents with Autism Spectrum Disorder. Behav Sci (Basel);2025 (Mar 26);15(4)

Adolescents with autism spectrum disorder (ASD) often have various psychiatric comorbidities, particularly depression. In recent years, gaming disorder (GD) and Internet addiction (IA) have been identified as common comorbidities of ASD. We administered three self-administered screening instruments to adolescents with ASD to assess the severity of depression, GD, and IA. The participants were 10-18-year-olds with ASD. They were asked to complete three questionnaires to assess depressive symptoms, GD, and IA: the Patient Health Questionnaire for Adolescents (PHQ-A), Ten-Item Internet Gaming Disorder Test (IGDT-10), and Internet Addiction Test (IAT). The total IGDT-10 score was calculated in two different ways: the original scoring version (IGDT-10-OV) and the modified version (IGDT-10-MV). Of the 74 respondents, 24.3% had moderate or severe depressive symptoms, 8.1% were identified as having possible GD according to the IGDT-10-OV, 39.2% were identified as having possible GD according to the IGDT-10-MV, and 27.0% were positive for IA according to the IAT. Two-group comparisons revealed that depressive symptoms were more strongly associated with IA than with GD. IA was associated with more depressive symptoms than GD. Since adolescents with ASD have difficulties with social communication, they are prone to isolation and feelings of loneliness. Longer screen times due to social isolation may be a risk factor for the development of GD/IA. Adolescents with ASD often exhibit a preference for visual processing but may struggle with verbal communication. Thus, they may find online spaces more comfortable for them to alleviate their feelings of loneliness.

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15. Treccarichi S, Vinci M, Musumeci A, Rando RG, Papa C, Saccone S, Federico C, Failla P, Ruggieri M, Calì F, Polizzi A, Praticò A. Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder Susceptibility. Medicina (Kaunas);2025 (Mar 24);61(4)

Background and Objectives: Zinc finger proteins are important transcription factors that regulate gene expression and play a critical role in neurodevelopment including autism spectrum disorders (ASDs). They are involved in a variety of cellular processes, including cell proliferation, differentiation, and apoptosis. Materials and Methods: Whole-exome sequencing (WES) analysis on a patient diagnosed with ASD. Results: Sequencing identified a homozygous insertion causing a stop codon, resulting in the removal of several functional domains including the zinc finger C2HC/C3H type of the ZC2HC1C protein. To date, no MIM entry has been assigned to the detected gene. In silico predictions described the variant as likely pathogenic, indicating an autosomal recessive inheritance pattern. In this study, we hypothesize that this homozygous mutation disrupts protein function and may represent a susceptibility gene for autism. The parents and the patient’s sister were healthy and carry the variant in the heterozygous condition. This gene is expressed in brain tissues showing high expression in both the choroid plexus (ChP) and midbrain, whose dysfunctions, as reported, may lead to ASD. Moreover, predictive pathway analyses indicated the probable involvement of this gene in primary cilia development. This process has been frequently linked to neurodevelopmental impairments, such as autism, as documented in previous studies. Conclusions: Further analyses are needed via in vitro functional assays or by ZC2HC1C gene knockout to validate its functional role.

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16. Vazquez JA, Rao A. Immunizations, Autism, and Statistical Analysis. Am J Med;2025 (Apr 26)

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17. Wilson C, Ballantyne C, Hawkins RD. ‘He’s Practising His Learned Social Skills on the Cat’: A Mixed-Methods Investigation of Parental Perspectives of the Role of Pets in Autistic Children’s Social Skills and Wellbeing. Behav Sci (Basel);2025 (Mar 25);15(4)

Evidence suggests that autistic children spend less time engaging in social interactions than their neurotypical peers which can negatively impact their wellbeing. Researchers, educators, and parents must consider how we address this. A possible facilitator of autistic children’s social skills and a protective factor for their psychological health is the role of pets and the human-pet bond. The study examined parental reports of autistic children’s attachment to their pet (dog or cat), positive and negative behaviours with that pet, and how this relates to prosocial behaviour, peer problems, and psychological health (emotional difficulties, conduct problems, hyperactivity/inattention). Sixty-five parents with an autistic child completed quantitative measures to assess these variables. Participants also completed qualitative questions aimed at understanding their perceptions of the impact of pets on their child. A regression analysis showed that children’s positive behaviour towards the pet predicted their prosocial behaviour (β = 0.40 p = 0.006). No other regression models were statistically significant. A thematic analysis of the qualitative responses highlighted four themes in relation to parents’ perceptions of the positive impacts of pets on their child. These were (1) Anxiety, Emotion Regulation, and Sleep; (2) Understanding of Self and Other; (3) Communication, Friendships, and Social Interactions; and (4) Comfort and Psychological Health. One theme was identified in relation to the negative impact of pets: (5) Pet-Related Anxiety and Concerns. The findings have implications which can inform guidelines to help parents make decisions about pet ownership and how to foster meaningful relationships between autistic children and their pets.

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18. Xia Z, Deng Q, Hu P, Gao C, Jiang Y, Zhou Y, Guo Q. Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay. J Mol Diagn;2025 (Apr 23)

Fragile X syndrome (FXS) is the leading cause of monogenic autism spectrum disorder and inherited intellectual disabilities. Although the value of population-based FXS carrier screening has been acknowledged, appropriate screening methods are urgently required to establish and implement screening programs. We developed a nanopore sequencing-based assay that includes data analysis software to identify FXS carriers. Reference and clinical samples were used to evaluate the performance of nanopore sequencing assay. Triplet-primed PCR and PacBio sequencing assays were used for comparisons. Nanopore sequencing identified reference carrier samples with a full range of premutation alleles in single-, 10-, and 100-plex assays, and identified AGG interruptions in an allele-specific manner. Moreover, nanopore sequencing revealed no size preference for amplicons containing different length CGG repeat regions. Finally, nanopore sequencing successfully identified three carriers among ten clinical samples for preliminary clinical validation. The observed variation in CGG repeat region size resulted from the base-calling process of nanopore sequencing. In conclusion, the nanopore sequencing assay is rapid, high-capacity, inexpensive, and easy to perform, thus providing a promising tool and paving the way for population-based FXS carrier screening.

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