1. Erratum: Binder et al., « Reducing Filamin A Restores Cortical Synaptic Connectivity and Early Social Communication Following Cellular Mosaicism in Autism Spectrum Disorder Pathways ». J Neurosci. 2025.

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2. Alduraidi W, Zhang E, Foster L, Mische-Lawson L. Exploring Goal Attainment Scaling Among Occupational Therapy Students: A Retrospective Descriptive Analysis. Occup Ther Int. 2025; 2025: 6034855.

Purpose: This study explored the administration of goal attainment scaling (GAS) by entry-level occupational therapy (OT) students, examining their competency following minimal training. While GAS is valuable for measuring progress toward individualized client goals, its implementation requires specific skills and training that may challenge entry-level practitioners. Method: Using retrospective data from a study of sensory garments’ effects on children with autism spectrum disorder (ASD), we analyzed GAS administration by five entry-level OT students. Students received both indirect training through their curriculum and 3 h of direct research-specific preparation. Using a modified version of the GAS checklist, we evaluated students’ competency through video recordings of GAS administration sessions and written GAS. Results: Analysis revealed variable competency levels among students. While overall performance met 82.4% of checklist criteria, individual student competency varied considerably (54.5%-95.4%). Three of five students achieved the established 75% competency threshold. Students consistently met criteria for conceptual goal construction and timeframe specification but struggled with maintaining single dimensions of change and specifying observable behaviors. Conclusions: Entry-level OT students demonstrated varying levels of competency in GAS administration following minimal training. Our findings suggest the need for more comprehensive training in specific aspects of GAS, particularly in scale construction and behavioral specification. These results have important implications for how OT programs prepare students to implement GAS in clinical practice.

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3. Andres EM, Brady SP, Camillone I, Cragin CA, Clark MA, Lester BM, Puggioni G, Sheinkopf SJ. Caregiver report of infant behavior associated with autism likelihood in first year of life. Pediatr Res. 2025.

BACKGROUND: Identification of prodromal indicators of autism in infancy has the potential to identify behaviors relevant to early autism screening. METHODS: We report on data from a prospective general population birth cohort with maternal reported measures at 9 and 12 months: the Survey of Well-Being of Young Children (SWYC; general developmental surveillance) and the First Year Inventory-Lite v3.1b (FYI-Lite; autism specific parent report research tool). Mothers completed the surveys and the Broad Autism Phenotype Questionnaire (BAPQ), a self-report measure of subclinical features of autism. RESULTS: In this sample of 332 infants (168 males), maternal-reported infant developmental milestones and behavioral indicators of difficult temperament, poor adaptability, and sleep problems at 9 months (SWYC) and maternal self-reported subclinical autism characteristics (BAPQ) were correlated with maternal-reported autism-related behaviors on the FYI-Lite at 12 months. Regression models revealed significant unique associations between infant temperament, developmental milestones, and FYI-Lite scores while controlling for significant effects of maternal BAPQ scores and education. CONCLUSIONS: Maternal report of infant temperament and developmental milestones at 9 months were associated with maternal-report early indicators of autism likelihood at 12 months in a general birth cohort. Follow up of this cohort is needed to determine associations with formal diagnostic outcomes. IMPACT: Identifying scalable measures of infant behaviors in general and specific to autism may help identify targets of intervention for infants in the first year of life. This study aims to contribute to improved first-year surveillance by assessing potential early autism indicators in a prospective general birth cohort, whereas other observational studies utilize enriched risk cohorts (e.g., infant siblings of autistic children). Preliminary findings of this cohort revealed that a maternal report of 9-month temperament significantly predicted higher scores on a maternal report 12-month autism screener and indicated the importance of considering maternal self-reported subclinical autism characteristics when interpreting parent report screeners.

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4. Brener S, Wright A. Paediatricians’ Perspectives Surrounding Identification and Management of Early Childhood Disorders in the United States. Child Care Health Dev. 2025; 51(1): e70041.

BACKGROUND: Since 2001, the American Academy of Pediatrics has released and twice revised guidelines tasking paediatricians with screening children for developmental disorders, but diagnoses are often delayed. Paediatricians in the United States are also responsible for referring patients with identified concerns for services and for managing their long-term care. OBJECTIVES: This review aims to chronologically synthesize available literature about paediatricians’ perspectives surrounding their roles in identifying and managing early childhood disorders and to identify how future interventions can best address these perspectives. METHODS: Early childhood disorders (ECDs) were defined as developmental delays and autism spectrum disorder. A literature search was performed on PubMed and Google Scholar. Surveys, interviews, focus groups and analyses of paediatricians’ perspectives on their roles in identifying and managing children with ECDs were included if they were performed in the United States and published in a peer-reviewed journal in or after 2001. Literature was reviewed and analysed by sorting key findings into categories of ‘knowledge’, ‘attitudes’ and ‘confidence’, then organizing chronologically within each category. RESULTS: Of the 122 publications identified, 19 were selected and reviewed, revealing some overlying themes. First, paediatricians desire more training on ECDs, especially in assisting with navigation of intervention programs. Second, negative attitudes towards roles in identifying and managing ECDs have remained relatively consistent since 2001. Third, paediatricians’ confidence declines from identification to long-term management of ECDs. CONCLUSIONS: This review chronologically synthesizes paediatricians’ knowledge, attitudes and confidence surrounding their roles in identifying children with ECDs, referring them to other professionals and managing their long-term care. Paediatricians are not solely responsible for these tasks, as other medical professionals, families, therapists and educators work together to care for these children. This review provides recommendations, such as enhancing training programs and utilizing care coordinators, to address perspectives that may result in suboptimal patient care.

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5. Dai YG, Tagavi DM, Stone WL, Carter AS. Validating the RISE Communication Play Protocol as a Diagnostic Tool for Autism in Early Childhood: A Pilot Study. J Autism Dev Disord. 2025.

There are few validated remote tools that can be used to assess for autism and to capture subtle changes in children’s social communication over time. Recently, user-centered design principles were applied to develop a parent-mediated remote assessment, the Reciprocal Imitation and Social Engagement Child Play Protocol (RISE CPP) to enable researchers to capture micro-level behaviors in children, while promoting useability for researchers and families, reducing caregiver burden, and maintaining reliability. This paper describes a pilot study to validate the RISE CPP as a tool to support clinician diagnosis of autism. Thirty-eight caregiver-child dyads (24-41 months, M = 34, SD = 4; 86% male) completed a remote parent-mediated assessment at home (RISE CPP) and an in-lab clinician-led assessment (Autism Diagnostic Observation Schedule; ADOS-2). Independent clinician diagnosis based on observations across the remote and in-lab assessments showed agreement for all but one child (K = .89). Clinicians completing in-person and remote assessments reported similar levels of confidence in their diagnoses, t(37) = 0.93, p = .36, d = .15. Mixed-methods analysis revealed unique benefits and challenges to the remote and in-person assessments and suggested that both assessments were acceptable to caregivers. Results provide preliminary support for the RISE CPP as a diagnostic tool. The remote administration may increase equity for clinical and research diagnostic assessments among families who are traditionally underserved and underrepresented in research.

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6. Gioiosa S, Gasparini S, Presutti C, Rinaldi A, Castrignanò T, Mannironi C. Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome. Sci Rep. 2025; 15(1): 2778.

Mutations of the MECP2 gene lead to Rett syndrome (RTT), a rare developmental disease causing severe intellectual and physical disability. How the loss or defective function of MeCP2 mediates RTT is still poorly understood. MeCP2 is a global gene expression regulator, acting at transcriptional and post-transcriptional levels. Little attention has been given so far to the contribution of alternative splicing (AS) dysregulation to RTT pathophysiology. To perform a comparative analysis of publicly available RNA sequencing (RNA-seq) studies and generate novel data resources for AS, we explored 100 human datasets and 130 mouse datasets from Mecp2-mutant models, processing data for gene expression and alternative splicing. Our comparative analysis across studies indicates common species-specific differentially expressed genes (DEGs) and differentially alternatively spliced (DAS) genes. Human and mouse dysregulated genes are involved in two main functional categories: cell-extracellular matrix adhesion regulation and synaptic functions, the first category more significantly enriched in human datasets. Our extensive bioinformatics study indicates, for the first time, a significant dysregulation of AS in human RTT datasets, suggesting the crucial contribution of altered RNA processing to the pathophysiology of RTT.

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7. Kandarpa H, Reddy M, Gianneschi G, Fofah O. Isolated, severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus infection in a late preterm neonate. BMJ Case Rep. 2025; 18(1).

This case report presents a late preterm infant diagnosed with severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus (cCMV) infection. Initially suspected to have Dandy-Walker malformation, postnatal MRI revealed significant cerebellar hypoplasia, without other typical cCMV findings. The diagnosis was confirmed by the presence of CMV in serum and urine. The patient was started on valganciclovir for 6 months, and despite the significant cerebellar hypoplasia, the clinical course was benign, with normal respiratory and feeding functions. Physical examination showed microcephaly, hypotonia and partial bilateral hearing loss. Follow-up showed persistent hypotonia but normal developmental progression otherwise. This case is notable for isolated cerebellar hypoplasia without other common cCMV-related radiological abnormalities, highlighting the need for further exploration into the atypical presentations of cCMV.

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8. Kasitipradit K, Thongkorn S, Kanlayaprasit S, Saeliw T, Lertpeerapan P, Panjabud P, Jindatip D, Hu VW, Kikkawa T, Osumi N, Sarachana T. Sex-specific effects of prenatal bisphenol A exposure on transcriptome-interactome profiles of autism candidate genes in neural stem cells from offspring hippocampus. Sci Rep. 2025; 15(1): 2882.

Bisphenol A (BPA), an endocrine-disrupting chemical, is increasingly linked to the pathogenesis of autism spectrum disorder (ASD). This study investigates the effects of prenatal BPA exposure on neural stem cells (NSCs) from the hippocampi of rat offspring, a brain region critical for neurodevelopment and implicated in ASD. Pregnant rats were administered with BPA or vehicle control once daily via oral gavage from gestational day 1 until parturition. NSCs were isolated from the offspring’s hippocampi on postnatal day 1, and RNA sequencing was performed to examine transcriptomic alterations. Differentially expressed genes (DEGs) were identified through RNA-seq and further analyzed using Ingenuity Pathway Analysis (IPA) to explore disrupted pathways. In addition, in vitro proliferation assays were conducted, utilizing immunofluorescence staining for Sox2, a stem cell marker, and BrdU to quantify proliferating NSCs. Our results revealed that prenatal BPA exposure induced sex-specific alterations in NSC gene expression, with ASD-related genes such as Atp1a3, Nefl, and Grin1 being particularly dysregulated in male offspring. Moreover, sex-specific changes in NSC proliferation were observed. The study underscores BPA’s potential as an environmental risk factor for ASD, emphasizing the need for further research into its role in sex-specific neurodevelopmental effects.

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9. Pan CL, Li D, Zhao WL, Liu YF, Xi YD, Huang HM. [Progress in nutritional management of children with autism spectrum disorder comorbidity avoidant/restrictive food intake disorder]. Zhonghua Er Ke Za Zhi. 2025; 63(2): 209-12.

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10. Raj M, Chattopadhyay A, Gupta SK, Jain S, Sastry UMK, Sudevan R, Sharma M, Pragya P, Shivashankar R, Sudhakar A, Radhakrishnan A, Parveen S, Patil S, Naik S, Das S, Kumar RK. Neurodevelopmental outcomes after infant heart surgery for congenital heart disease: a hospital-based multicentre prospective cohort study from India. BMJ Paediatr Open. 2025; 9(1).

BACKGROUND: Neurodevelopmental disability is a common long-term concern following surgery for congenital heart disease (CHD). Little information is available from low-resource environments where the majority of children with CHD are born. Several challenges in the CHD care continuum exist in such environments. METHODS: We followed 1346 infants who were operated for CHD using cardiopulmonary bypass from five paediatric cardiac programmes across India. The neurodevelopmental assessment was done using the Developmental Assessment Scale for Indian Infants (DASII) at 6 months after surgery. RESULTS: A total of 1145 (94.8%) infants were alive at 6 months and 127 (11.1%) were lost to follow-up. The mean age of participants at baseline was 5.2 (3.6) months. The mean motor developmental quotient (DMoQ) and mental developmental quotient (DMeQ) of the remaining 1018 infants were 81.8 (69.5, 93.0) and 87.7 (77.1, 95.7), respectively. A total of 262 (25.7%) infants had motor developmental delay and 157 (15.4%) had mental developmental delay. Syndromic association, younger age at surgery, duration of mechanical ventilation and head circumference were significantly associated with DMoQ. The DMeQ was associated with syndromes, duration of hospital and intensive care unit stay and socioeconomic status. The preoperative condition did not impact mental and motor development. Motor clusters with maximum delay included body control and locomotion. Mental clusters with maximum delay included reaching and manipulation, social interaction-imitative behaviour and vocabulary comprehension. CONCLUSIONS: Survivors of infant heart surgery experience significant motor and mental neurodevelopmental delay. This delay is associated with similar factors reported by earlier studies. As more high-risk infants undergo cardiac surgery in low-resource settings, a growing population will require significant societal resources for neurodevelopmental assessment as well as neurodevelopmental rehabilitation. These resources include trained personnel for comprehensive developmental assessment of survivors of CHD surgery, as well as infrastructural requirements for dedicated assessment rooms in centres providing surgical care for CHD patients.

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11. Roush K. Autism Diagnoses Have Surged Over the Past Decade. Am J Nurs. 2025; 125(2): 12.

The increase reflects progress in screening for the disorder.

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12. Savarese G, Mandia R, Diavoletto A, Piscitelli M, Impemba F, Di Siervi A, Carpinelli L, Bottiglieri F, Sessa M, Corrivetti G. Preliminary Results of Sensorimotor Room Training for the Improvement of Sensory and Motor Skills in Children with Autism Spectrum Disorders. Pediatr Rep. 2025; 17(1).

Background: Motor skills in early and middle childhood are essential for physical play, social interactions, and academic development. Children with autism spectrum disorder (ASD) often exhibit atypical sensory responses, which can impact self-care and other developmental areas. This study explores the impact of sensory and motor rehabilitation using a Motor Sensory Room to stimulate motor development in children with ASD. Methods: Twenty-five children with ASD, preschool and school-aged (2-10 years), were divided into three groups based on the DSM-5 severity levels. The PEP-3 scale was used to assess cognitive, language, motor, emotional, social, and behavioral development. Ten children underwent a 3-month Motor Sensory Room intervention, and data were collected longitudinally. A control group of ten children, matched in age, sex, and diagnosis, did not receive the intervention. A 12-month follow-up is planned for all participants. Results: Children exhibited diverse profiles. Type B subjects displayed more severe symptoms, while Type A showed milder symptoms with better language and interpersonal skills. After the 3-month intervention, improvements were noted in several PEP-3 areas. For sensory levels (hypo-reactivity), the percentage of individuals at medium levels increased from 44% to 50%. For hyper-reactivity, the percentage at medium levels rose from 30% to 40%. Motor skills improved, with the percentage of individuals with high motor abilities rising from 20% to 25%. Relational behaviors also saw gains, with an increase from 50% to 55% in medium-level behaviors. The experimental group demonstrated better outcomes compared to the control group, particularly in sensory and motor skills. Conclusions: Preliminary findings suggest that sensory and motor training in a Motor Sensory Room improves sensory integration, motor coordination, and social interaction in children with ASD. Further research is needed to confirm long-term benefits.

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13. Tuma J, Rana AN, Philip T, Park JB, Lee HY. Altered olfactory responses in Fmr1 KO mice. Sci Rep. 2025; 15(1): 2952.

Fragile X syndrome (FXS) is a neurodevelopmental disorder oftentimes associated with abnormal social behaviors and altered sensory responsiveness. It is hypothesized that the inappropriate filtering of sensory stimuli, including olfaction, can lead to aberrant social behavior in FXS. However, previous studies investigating olfaction in animal models of FXS have shown inconsistent results. Here, we found that Fmr1 knock-out (KO) mice, a mouse model of FXS, showed increased sniffing duration for non-social odors during their first exposure. Additionally, while wild-type (WT) males demonstrated differences in behavioral patterns between non-social odors while Fmr1 KO males did not show such distinction. We also showed that Fmr1 KO males spent significantly less time sniffing female urine odor compared to WT males. Moreover, we found an increased volume of the olfactory bulb in Fmr1 KO males. Overall, our findings suggest that the Fmr1 KO mice demonstrate atypical olfactory behaviors as well as structural changes in the olfactory bulb.

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14. van Asselt A, Hoeberichts K, Demirel S, Scheeren A, Roke Y. Effectiveness of the mobile Stress Autism Mate Junior application in reducing stress and improving quality of life in adolescents with autism: a pilot study. Front Psychiatry. 2024; 15: 1469257.

OBJECTIVE: Studies indicate that stress levels of autistic adolescents may be particularly high. Therefore, support is needed to help them deal with their stressors. Stress Autism Mate (SAM) Junior, a mobile self-help tool, was designed in co-creation with adolescents with autism to help reduce daily stress levels. The app is based on the SAM app, which was previously shown to be effective in reducing stress in autistic adults. This study aimed to evaluate the effectiveness of the SAM Junior app in reducing perceived stress and maladaptive coping styles, and increasing adaptive coping styles and quality of life in adolescents with autism. METHODS: A total of 24 Dutch adolescents with autism participated in this Single Case Experimental Design study. Sixteen of them (9 girls and 7 boys; M(age) = 15.0 years, SD = 1.9) completed all research phases. Data were collected at four time points separated by four weeks: Control, pre-test, post-test and follow-up. Linear mixed-effects models were used to analyze the data. RESULTS: At post-test, use of the SAM Junior app had no significant effects on participants’ perceived stress (B = 0.31; 95% CI [-1.59, 2.22], p = .73), adaptive coping (B = -1.38; 95% CI [-5.69, 2.94], p = .51), maladaptive coping (B = -0.63; 95% CI [-4.56, 3.30], p = .74) and quality of life (B = -4.13; 95% CI [-12.19, 3.94], p = .29). These non-significant effects persisted at follow-up. DISCUSSION: Current preliminary results do not show effectiveness of the SAM Junior app to support adolescents with autism. Using the app as intended, without professional supervision, may have been too complex for this population. Further research is needed to determine the potential effects of the SAM Junior app with more certainty.

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15. Verhoeven WMA, Pfundt R, Engelke UFH, Kluijtmans LAJ, Egger JIM. X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability. Int Med Case Rep J. 2025; 18: 111-6.

INTRODUCTION: Levocarnitine is essential for brain functioning and fatty acid metabolism and stems largely from dietary sources. The Epsilon-Trimethyllysine Hydroxylase (TMLHE) gene encodes the enzyme N-Trimethyllysine hydroxylase (TMLH) which catalyses the first step in the biosynthesis of carnitine. Lack of TMLH enzyme activity is associated with developmental delay and autistic behaviours described as X-linked recessive autism, type 6 (OMIM#300872). PATIENT AND METHODS: Here, an institutionalized adult male patient with intellectual disability, autism, and challenging behaviours is presented in whom genetic analysis disclosed a novel pathogenic variant in the TMLHE gene. Extensive somatic, neurological, psychiatric, and neuropsychological investigations were performed next to examination of hematological and biochemical parameters including plasma carnitine status. Also, Whole Exome Sequencing (WES) and Next-Generation Metabolic Screening (NGMS) were performed. RESULTS: Moderate intellectual disability along with obsessive and aggressive behaviour in the context of autism spectrum disorders was established as well as symptoms from the catatonic spectrum. With WES, a novel variant in the TMHLE gene was identified and using NGMS, increased concentration of trimethyllysine and decreased concentration of γ-butyrobetaine were found resulting in a significantly decreased BB/TML ratio, confirming the pathogenicity of this variant. CONCLUSION: X-linked autism type 6 is characterized by moderate intellectual disability and symptoms from the autism spectrum in the absence of any dysmorphisms. To prevent regressive autistic episodes in young children, it is highly recommended to consider next-generation sequencing techniques as the first step in the differential diagnostic process of autism.

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16. Wang M, He K, Zhang L, Xu D, Li X, Wang L, Peng B, Qiu A, Dai Y, Zhao C, Jiang H. Assessment of glymphatic function and white matter integrity in children with autism using multi-parametric MRI and machine learning. Eur Radiol. 2025.

OBJECTIVES: To assess glymphatic function and white matter integrity in children with autism spectrum disorder (ASD) using multi-parametric MRI, combined with machine learning to evaluate ASD detection performance. MATERIALS AND METHODS: This retrospective study collected data from 110 children with ASD (80 exploratory, 43 validation) and 68 typically developing children (50 exploratory, 18 validation) from two centers. The automated diffusion tensor imaging along the perivascular space (aDTI-ALPS), fractional anisotropy (FA), cerebrospinal fluid volume, and perivascular space (PVS) volume indices were extracted from DTI, three-dimensional T1-weighted, and T2-weighted images. Intergroup comparisons were conducted using t-tests, Mann-Whitney U-test, and tract-based spatial statistics. Correlation analysis assessed the relationship between glymphatic function, white matter integrity, and clinical scales. Machine learning models based on MRI indices were developed using the AutoGluon framework. RESULTS: The PVS volume (p < 0.001) was larger, and aDTI-ALPS index (p < 0.001) was lower in children with ASD compared to typically developing children. FA values were reduced in the ASD group and positively correlated with aDTI-ALPS index. The aDTI-ALPS index correlated with ASD severity (r = -0.27, p = 0.02) and developmental delays (r = 0.63, p < 0.001). Mediation analysis indicated the aDTI-ALPS index partially mediated the relationship between white matter integrity and developmental delay. The MRI-based model achieved an area under the curve of 0.84 for ASD diagnosis. CONCLUSION: Analyzing glymphatic function and white matter integrity enhances understanding of ASD's neurobiological underpinnings. The multi-parametric MRI, combined with machine learning, can facilitate the early detection of ASD. KEY POINTS: Question How can multi-parametric MRI based on the glymphatic system improve early diagnosis of autism spectrum disorder (ASD) beyond the limitations of current behavioral assessments? Findings Glymphatic dysfunction and disruptions in white matter integrity were associated with clinical symptoms of ASD. Multi-parametric MRI with machine learning can improve early ASD detection. Clinical relevance Multi-parametric MRI, focusing on glymphatic function and white matter integrity, enhances the diagnostic accuracy of ASD by serving as an objective complement to clinical scales.

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17. Zoccante L, Sabaini S, Rigotti E, Bonatti SM, Lintas C, Zaffanello M. Impact of a Structured Social Skills Training Program on Adolescents and Young Adults with Level 1 Autism. Pediatr Rep. 2025; 17(1).

BACKGROUND/OBJECTIVES: Level 1 autism spectrum disorder (ASD) is a neurodevelopmental condition characterised by challenges in social and communication skills. Despite these difficulties, individuals with level 1 ASD often exhibit average intelligence and typical language development. Improving socialisation skills in this population requires tailored approaches that address their specific needs and include targeted strategies. This study aims to evaluate the effectiveness of a structured social skills training programme for adolescents and young adults with level 1 ASD. METHODS: Participants diagnosed with level 1 ASD, regardless of gender, were consecutively recruited from an outpatient clinic. The intervention involved activities from the Social Skills, Autonomy, and Awareness Module, specifically designed for adolescents and young adults. Sessions were conducted fortnightly, lasting 1.5 to 3 h each, over 17 months. Adaptive behaviour was assessed using the Vineland Adaptive Behaviour Scales (VABS) at baseline and after completing the programme. Data were analysed with SPSS version 22.0 (SPSS Inc., Chicago, IL, USA). Statistical methods included automatic clustering to identify optimal clusters and Pearson’s Chi-square and Fisher’s exact tests to evaluate variable distributions among the clusters. RESULTS: A total of 31 participants (77.4% female) with a mean age of 20.1 years (SD = 7.0) were included in the study. Two distinct clusters emerged. Cluster 1 (n = 8) had significantly higher mean ages and baseline Vineland II socialisation scores than Cluster 2 (n = 23). Both clusters demonstrated significant improvements in social skills following the intervention. CONCLUSIONS: This study highlights distinct profiles within individuals with level 1 ASD, showing a clear link between age and social skill development. The intervention improved social skills for most participants, regardless of the age at which treatment began. For some individuals, alternative or augmented treatment strategies may be necessary to achieve optimal results.

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