1. Annunziata S, Purpura G, Piazza E, Meriggi P, Fassina G, Santos L, Ambrosini E, Marchetti A, Manzi F, Massaro D, Tacci AL, Bolognesi E, Agostini S, La Rosa F, Pedrocchi APG, Molina P, Cavallini A. Early Recognition and Intervention in SIBlingS at High Risk for Neurodevelopment Disorders (ERI-SIBS): a controlled trial of an innovative and ecological intervention for siblings of children with autism spectrum disorder. Front Pediatr. 2024; 12: 1467783.

BACKGROUND: It has been widely demonstrated that siblings of children with autism spectrum disorder (ASD) have an increased risk of abnormal developmental trajectories. In response to this, early recognition protocols have been developed worldwide, aiming to promote early interventions that can positively impact the neurodevelopment of this population. This paper presents the protocol of a controlled trial: ERI-SIBS (Early Recognition and Intervention in SIBlingS at High Risk for Neurodevelopment Disorders) is an innovative and ecological early recognition and intervention program designed specifically for siblings of children with ASD. METHODS: We aim to recruit siblings at low risk and high risk of neurodevelopmental disorders. Based on clinical evaluation at T0, we will allocate the infants into three groups: Group 1, infants at low risk without any signs of neurodevelopmental disorders; Group 2, infants at high risk without any signs of neurodevelopmental disorders; Group 3: infants at low or high risk with signs suggestive of neurodevelopmental disorders. Children of Group 2 will undergo Active Monitoring (one 90 min session once a month for 6 months), while children of Group 3 will undergo Early Intervention (one 90 min session once a week for 6 months). In both cases, the ERI-SIBS contents are based on a multidimensional and naturalistic approach and always involve caregivers. All recruited children will be evaluated at three different time points (T0 within the 8 months of life of the child, T1 after 6 months and T2 after 12 months) using behavioural, technological, and biological techniques to assess infants’ neurodevelopmental functions, parent-infant interaction, and early ASD markers. DISCUSSION: The ERI-SIBS study will expand knowledge regarding the impact of early intervention on families of infants at risk of neurodevelopmental disorders for the presence of a child with a diagnosis of ASD. The study will have the potential to significantly contribute to future research and the scientific and clinical debate on the best way to implement early intervention in at-risk populations. CLINICAL TRIAL REGISTRATION: Clinicaltrials.gov identifier (NCT06512649).

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2. Bai M, Xue Y, Dong H, Mohamed ZA, Jia F. Autism screening tool validation for toddlers and young children: advantages and limitations. Pediatr Res. 2025.

BACKGROUND: Early identification is crucial for children with autism. However, many children are diagnosed later due to the lack of specific assessment tools in primary care settings. The study aims to evaluate the effectiveness of the STAT in screening autism across different age groups while assessing its advantages and limitations. METHODS: In total, 434 children aged 14-48 months visiting autism clinics from March to December 2021 were included. Subjects were grouped by age (14-23, 24-36, and 37-48 months) and categorized based on clinical evaluations and STAT results. RESULTS: In the age groups of 14-23 and 24-36 months, STAT results demonstrated high sensitivity and specificity compared to DSM-5 diagnoses and exhibited better consistency with ADOS-2 results. However, its performance was weaker in the 37-48 months group. False-negative results were associated with less pronounced autistic traits and higher developmental quotients. CONCLUSION: STAT presents as a promising level 2 screening tool for early autism identification in China, but its accuracy diminishes in older children with less pronounced autistic traits. These findings emphasize the need for comprehensive assessment strategies for autism diagnosis across different age groups and varying levels of support needs. IMPACT: This study evaluates the effectiveness of the Screening Tool for Autism in Toddlers (STAT) for early screening of autism across different age groups. It highlights STAT’s effectiveness in younger age groups but emphasizes its limitations with older children and those with less pronounced autistic traits. The findings supplement existing literature by providing insights into STAT’s utility in diverse populations. The impact lies in guiding clinical practice to improve the identification of autistic characteristics, particularly in resource-limited settings, potentially enhancing early support and outcomes for autistic children.

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3. Bhusri B, Sutheeworapong S, Kittichotirat W, Kusonmano K, Thammarongtham C, Lertampaiporn S, Prommeenate P, Praphanphoj V, Kittitharaphan W, Dulsawat S, Paenkaew P, Cheevadhanarak S. Characterization of gut microbiota on gender and age groups bias in Thai patients with autism spectrum disorder. Sci Rep. 2025; 15(1): 2587.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication and interaction problems. The prevalence of ASD is increasing globally, with a higher ratio of males to females. Gastrointestinal symptoms are common in individuals with ASD, and gut microbiota has been implicated in the disorder’s development. This study aimed to investigate the gut microbiota alteration in Thai individuals with ASD compared to healthy controls using 16S rRNA gene sequencing. The influence of gender and age on gut microbiota composition and function was also examined. A total of 65 ASD individuals and 30 neurotypical (NT) individuals were included in the analysis. The results revealed notable differences in gut microbiota composition between the ASD and NT groups, with variations observed in microbial richness and the presence of enriched microbial taxa. These differences were influenced by both gender and age. Fusobacteriota, Fusobacteriaceae, and Fusobacterium were found to be enriched in individuals with ASD. Furthermore, the study identified gender-related taxa, such as Bacteroides plebeius, enriched in ASD females. Age-related taxa, including Veillonella, known to be associated with poor oral hygiene, were also observed in ASD children. The analysis of differentially abundant pathways highlighted the enrichment of various metabolic pathways in individuals with ASD, including those related to endocrine-disrupting chemicals. These findings underscore the importance of considering gender and age when studying gut microbiota in ASD. They provide valuable insights into the potential role of gut microbiota dysbiosis in ASD pathogenesis and highlight the influence of environmental factors.

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4. Bölte S. Social cognition in autism and ADHD. Neurosci Biobehav Rev. 2025: 106022.

Social cognition is a crucial capacity for social functioning. The last decades have seen a plethora of social cognition research in neurodevelopmental conditions, foremost autism and, to a lesser extent, ADHD, both characterized by social challenges. Social cognition is a multifaceted construct comprising various overlapping subdomains, such as Theory of Mind/mentalizing, emotion recognition, and social perception. Mechanisms underpinning social cognition are complex, including implicit and explicit, cognitive and affective, and hyper- and hypo-social information processing. This review explores the intricacies of social cognition in the context of autism and ADHD. Research indicates altered performance on social cognition tests in autism, compared to neurotypical groups, with social cognition alterations having a small but robust effect on the defining features of autism. The nature of such alterations in autism appears primarily in relation to implicit processing. ADHD groups show intermediate social cognition performance, appearing to be influenced by executive function difficulties. Social cognition varies with intellectual and verbal abilities and seems to improve with age in autism and ADHD. Social skills interventions in autism, and stimulant medication in ADHD have been shown to improve social cognition test performance, while mentalizing training effects in autism are less conclusive. A limitation of the field is that social cognition constructs and tests are not well delineated. Further, most research has been embedded in a nativist approach rather than a constructivist approach. The former has been questioned for ignoring environmental contributions, especially the dimension of mutual miscommunication between neurodivergent and neurotypical individuals.

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5. Curtis S, Izett E. The experience of mothers of autistic children with a pathological demand avoidance profile: an interpretative phenomenological analysis. Discov Ment Health. 2025; 5(1): 5.

PURPOSE: Emergent research literature has identified emotional and behavioural challenges for autistic children with a pathological demand avoidance profile. However, understanding of their parents’ experience is limited. This study aimed to explore the experience of parents of autistic children with a pathological demand avoidance profile. METHODS: Semi-structured interviews were completed with ten parents of autistic children with a pathological demand avoidance profile, aged between 5 and 11 years (M = 8.5, SD = 1.90). All participants were mothers, aged 33-50 years (M = 42, SD = 5.35). To explore what meaning participants gave to their lived experience, an interpretative phenomenological analysis was conducted on interview data. RESULTS: Four main themes were developed from the interpretative phenomenological analysis; the benefit of a shared understanding about pathological demand avoidance to the parents and their children, the power of pathological demand avoidance and the impact on families, the emotional experience of mothers, and the various ways in which they coped. CONCLUSION: The need for further recognition and understanding about pathological demand avoidance is emphasised through recommendations for future research. As is the need for flexible, informed, and appropriate support for demand avoidant children and their families.

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6. Davoudi S, Rahdar M, Borjkhani M, Alavi-Majd H, Hosseinmardi N, Behzadi G, Janahmadi M. The Impact of Astroglia Kir4.1 Channel Dysfunction on Neuronal Activity and Autism-Related Behavioral Abnormalities. Glia. 2025.

Autism spectrum disorder (ASD) is marked by neurobehavioral developmental deficits, potentially linked to disrupted neuron-glia interactions. The astroglia Kir4.1 channel plays a vital role in regulating potassium levels during neuronal activation, and mutations in this channel have been associated with ASD. This study investigates astroglia Kir4.1 as a regulator of neuronal excitability and behavioral abnormalities in rats with autistic-like traits induced by prenatal exposure to valproic acid (VPA). Whole-cell patch-clamp recordings were obtained from pyramidal neurons in the hippocampal CA1 region, showing that inhibition of Kir4.1 channels led to electrophysiological changes indicative of neuronal hyperexcitability, similar to that seen in VPA-exposed neurons. Specifically, there was increased input resistance and voltage threshold, alongside decreased time constant and rheobase. Behavioral assessments after 7 days of intrahippocampal PA6 (5 μg/mL/day) administration revealed significant social withdrawal, heightened anxiety, reduced exploration, and impaired recognition memory, underscoring the behavioral deficits linked to autism. While Kir4.1 inhibition affected excitability, it did not alter the output of CA1 pyramidal neurons in autistic-like rats. These findings emphasize the critical role of astroglia Kir4.1 channels in modulating neuronal excitability and associated behavioral impairments within the VPA-induced autism model, suggesting a promising target for future therapeutic interventions.

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7. Duffy F, Peebles I, Clark E, Loomes R, Thomson L, Maloney E, Nimbley E. Clinicians’ Experiences of Eating Disorder Focused Family Therapy With Autistic Young People. Eur Eat Disord Rev. 2025.

OBJECTIVE: Eating disorder focused family therapy (FT-ED) is the leading outpatient intervention for adolescents with Anorexia Nervosa. Autistic people report poorer eating disorder treatment experiences and may be at increased risk of inpatient admissions. There is a need to consider adaptions to eating disorder treatment for this population. The aim of this study is to explore the experiences of clinicians in the delivery of FT-ED for Autistic young people with Anorexia Nervosa and any adaptations currently being implemented. METHOD: FT-ED trained clinicians who had experience of delivering this modality with young Autistic people and their families, were invited to take part in interviews. Transcripts were analysed using Reflexive Thematic Analysis. RESULTS: Eleven clinicians completed interviews and analysis generated four themes and eight subthemes: (1) Systemic context, (2) Raising potential autism, (3) Autism eating disorders crossover, (4) Manual versus adaptations. CONCLUSIONS: This paper is the first exploration of clinician’s experience delivering FT-ED to Autistic young people and their families and highlighted unique considerations with this population. It is an initial step to consider adaptations to the FT-ED model, with the aim of making eating disorder treatments more effective, accessible and acceptable for Autistic young people and their families.

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8. Green K, Weir E, Wright L, Allison C, Baron-Cohen S. Autistic and transgender/gender diverse people’s experiences of health and healthcare. Mol Autism. 2025; 16(1): 4.

BACKGROUND: Autistic people and transgender/gender diverse people experience poorer healthcare experiences and greater risk of diagnosed, suspected, and assessment recommended health conditions, compared to non-autistic and cisgender individuals, respectively. Despite this, there is a paucity of studies on the healthcare experiences and health outcomes of transgender/gender diverse autistic individuals. METHODS: We compared the healthcare experiences and health outcomes of cisgender autistic (n = 1094), transgender/gender diverse autistic (n = 174), and cisgender non-autistic adults (n = 1295) via an anonymous, self-report survey. All individuals whose sex assigned at birth did not match their current gender identity were categorized as transgender/gender diverse; this was possible to determine, as the survey asked about sex assigned at birth and gender in separate questions. Unfortunately, n = 57 transgender/gender diverse non-autistic participants were excluded from these analyses a priori, due to low power. Unadjusted and adjusted binomial logistic regression models with FDR correction were employed to assess healthcare experiences and rates of co-occurring mental and physical health conditions. RESULTS: Both transgender/gender diverse and cisgender autistic adults had higher rates of all health conditions (including conditions that are formally diagnosed, suspected, or recommended for assessment), compared to cisgender non-autistic adults. Transgender/gender diverse autistic adults were 2.3 times more likely to report a physical health condition, 10.9 times more likely to report a mental health condition, and 5.8 times more likely to report self-harm than cisgender non-autistic adults. Both autistic groups also reported significantly poorer healthcare experiences across 50/51 items. LIMITATIONS: These data were not originally collected to understand the experiences of transgender/gender diverse individuals. In addition, our recruitment strategies, use of a convenience sampling method, and the use of a self-report survey limit the generalizability of the study. As our sample was biased towards white individuals, UK residents, relatively highly educated individuals, those assigned female at birth, and those who currently identify as female, our findings may be less applicable to individuals of differing demographics. Finally, the present study does not include information on the experiences of transgender/gender diverse non-autistic people. CONCLUSIONS: Autistic people have poorer self-reported health and healthcare; however, being gender diverse is associated with further risk for certain adverse experiences and outcomes. Future research on the health and healthcare experiences of transgender/gender diverse autistic people is urgently needed. In particular, forthcoming studies in this area should aim to recruit large-scale and representative studies and should compare the experiences of transgender/gender diverse autistic people to those of transgender/gender diverse non-autistic people. Greater recognition of challenges and reasonable adjustments are essential for people with marginalized, intersectional identities in clinical practice.

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9. Kamikawa K, Yamamuro K, Mizui R, Kashida N, Ishida R, Okada T, Iwata N, Makinodan M. Reduced prefrontal hemodynamic responses measured using near-infrared spectroscopy in adults with autism spectrum disorder. Front Psychiatry. 2024; 15: 1507890.

AIM: Functional neuroimaging studies have suggested that prefrontal cortex dysfunction occurs in individuals with autism spectrum disorder (ASD). Near-infrared spectroscopy (NIRS) is a noninvasive optical tool used to investigate oxygenation and hemodynamic responses in the cerebral cortex by measuring changes in oxygenated hemoglobin. Previous studies using NIRS have suggested that male children with ASD exhibit reduced hemodynamic responses in the dorsolateral prefrontal cortex; however, only a few studies examined this response in adults with ASD. METHODS: We examined the characteristics of prefrontal hemodynamic responses in 114 adults with ASD and 84 typically developing controls. Relative concentrations of oxygenated hemoglobin were measured with frontal probes every 0.1 s during the Stroop color-word task, using 24-channel NIRS. RESULTS: Our findings demonstrated that the oxygenated hemoglobin changes in the ASD group were significantly smaller than those in the control group at channels 19, 20, 23, and 24- located over the orbitofrontal cortex and frontal pole (p <0.05 for all three channels). The differences in oxygenated hemoglobin changes at Ch 20 were significantly correlated with the Autism-Spectrum Quotient Japanese version (AQ-J) total score and attention switching score, which is a symptom cluster of AQ-J (p = 0.043 and p = 0.009, respectively). CONCLUSION: Adults with ASD have reduced prefrontal hemodynamic responses as measured using near-infrared spectroscopy and the reduced activity of the frontal pole in particular is related to reduced attentional function.

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10. 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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11. Keshavarz S, Esmaeilpour K. Relationship between social anxiety and separation anxiety symptoms with insistence on sameness with the mediating role of sensory hypersensitivity. BMC Psychol. 2025; 13(1): 62.

BACKGROUND: Autism spectrum disorder (ASD) is characterized by impairments in social communication and interaction, restricted and repetitive patterns of behavior, and sensory processing abnormalities. These core features are often accompanied by comorbid anxiety disorders. However, the sequence and mechanisms of these associations warrant further investigation. Therefore, the aim of this study was to examine the relationship of social anxiety and separation anxiety on insistence on sameness, mediated by sensory hypersensitivity. METHODS: This was a cross-sectional study based on caregiver reports of 247 children, aged 7 ̶ 11 years. The parents completed the Autism Quotient-Children’s Version (AQ-C), the Repetitive Behavior Questionnaire-2 (RBQ-2), the Sensory Profile 2 (SP2), and the Spence Children’s Anxiety Scale-Parent Version (SCAS-P). RESULTS: The path analysis revealed a significant indirect effect of social anxiety and separation anxiety on insistence on sameness via sensory hypersensitivity (p ≤ 0.05). However, neither social anxiety nor separation anxiety had a significant direct effect on insistence on sameness (p = 0.108 and p = 0.342, respectively). CONCLUSIONS: Based on the results, the mediated association of sensory hypersensitivity with the relationship between social anxiety, separation anxiety, and insistence on sameness was observed. The article discusses the theoretical explanations and implications of the results, as well as various manifestations of anxiety symptoms in children with ASD.

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12. Liu J, Chen H, Wang H, Wang Z. Neural correlates of facial recognition deficits in autism spectrum disorder: a comprehensive review. Front Psychiatry. 2024; 15: 1464142.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by significant impairments in social interaction, often manifested in facial recognition deficits. These deficits hinder individuals with ASD from recognizing facial identities and interpreting emotions, further complicating social communication. This review explores the neural mechanisms underlying these deficits, focusing on both functional anomalies and anatomical differences in key brain regions such as the fusiform gyrus (FG), amygdala, superior temporal sulcus (STS), and prefrontal cortex (PFC). It has been found that the reduced activation in the FG and atypical activation of the amygdala and STS contribute to difficulties in processing facial cues, while increased reliance on the PFC for facial recognition tasks imposes a cognitive load. Additionally, disrupted functional and structural connectivity between these regions further exacerbates facial recognition challenges. Future research should emphasize longitudinal, multimodal neuroimaging approaches to better understand developmental trajectories and design personalized interventions, leveraging AI and machine learning to optimize therapeutic outcomes for individuals with ASD.

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13. Nicholas DB, Lach LM, Sutherland SB, Maxwell J, McFarland S, Miller AR, Clancy A, Scorah J. Improving access to services in neuro-developmental disability: proceedings of a national meeting to advance community capacity. BMC Proc. 2025; 19(Suppl 1): 1.

As part of a participatory project to advance navigational service delivery systems for children with neurodevelopmental disability (NDD) and their families, this paper addresses proceedings from a capacity-building conference in Vancouver, Canada. A total of 29 invited key stakeholders attended the meeting with the following aims: knowledge sharing amongst provincial/territorial regions advancing NDD navigation capacity; sustainable action-oriented knowledge exchange; and operationalizing next steps to build navigation resources across Canadian regions. Regional representation included multiple and inter-sectoral partners (e.g., not-for-profit organizations, government, education, health, researchers, etc.) strategically invited to address mutually-agreed upon regional challenges, where ideas for envisioning, planning and success could be developed for ultimate operationalization in three Canadian provinces and one territory based on need for building navigational service delivery systems in NDD.Advancements in navigational service delivery were shared by site leads in the four represented regions of the initiative: Alberta, British Columbia, Quebec, and Yukon. Each regional lead conveyed targeted accomplishments, priorities and issues in moving navigation forward. Identified successes comprised the development of trusting partnerships across agencies and sectors, innovation and connection among service/navigation organizations and leaders, and training advances. Struggles included insufficient regional clarity on guiding principles for navigation services, a lack of resources relative to family need for services, and insufficient infrastructural supports in regions. Based on key learnings within and across regional groups, plans for regional development were strategized and shared.

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14. 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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15. Qian L, Ding N, Fang H, Xiao T, Sun B, Gao H, Ke X. Pragmatic performance, its relationship with symptom severity, and early clinical predictors of pragmatics in 5 ~ 6-year-old children with autism spectrum disorder. BMC Psychiatry. 2025; 25(1): 58.

BACKGROUND: Pragmatic language refers to using spoken language to convey messages effectively across diverse social communication contexts. However, minimal longitudinal research has focused on defining early predictors of pragmatic development in children with autism spectrum disorder (ASD). METHODS: In the present study, 71 children with ASD and 38 age- and gender- matched 24- to 30-month-old typically developing (TD) children were enrolled. Social-communication, language, and parent‒child interaction measures were collected for the ASD group at baseline. Three years later, all subjects were assessed for pragmatic ability via the Chinese version of the Language Use Inventory (LUI-Mandarin). First, the differences in pragmatic performance between the ASD and TD groups at follow-up were analyzed. Second, pragmatic performance was correlated with autism symptomatology at follow-up, as well as the structural language difficulties and joint engagement (JE) levels at baseline in the ASD group. Furthermore, hierarchical multiple regression analyses and machine learning techniques were performed to explore the effects of early potential predictors of pragmatic development in the ASD group. RESULTS: First, our results revealed that performance was significantly lower in the ASD than in the TD group with respect to the LUI-Mandarin total scores and subscale scores (except for subscale C). Second, correlation analysis revealed that more severe symptoms of ASD at follow-up were associated with lower LUI-Mandarin total scores and better language performance on the Gesell Developmental Schedules (GDS). Additionally, increased proportions of supported JE (SJE) states were associated with higher LUI-Mandarin total scores. In contrast, increased proportions of unengaged (UE) states were associated with lower LUI-Mandarin total scores in the ASD group. Third, hierarchical multiple regression analyses and machine learning techniques indicated that the proportions of SJE during parent‒child interactions, as well as the degree of social symptoms and structural language impairments, were significant contributors to pragmatic development for the ASD group in the prediction models. CONCLUSION: In summary, our findings suggest that pragmatic language difficulties are present in children with ASD as early as preschool age. Additionally, given the close correlation between the LUI-Mandarin score and symptom severity on the ADOS/ADI-R, the LUI-Mandarin might be a good way to triage children who need to wait a long time for a more extensive evaluation. Furthermore, this study provides new insights into potential targets for pragmatic interventions, and interventions can be designed to promote SJE between caregivers and children in future work.

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16. 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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17. Ren J, Bai Y, Gao J, Hou Y, Mao J, Gao F, Wang J. Diagnostic Value of Serum miR-499a-5p in Chinese Children with Autism Spectrum Disorders. J Mol Neurosci. 2025; 75(1): 8.

The purpose of this study was to investigate the expression of miR-499a-5p in children with autism spectrum disorders (ASD) and its value in early diagnosis of ASD. This is a retrospective case-control study that included 40 children with ASD as a case group and 43 healthy children as a control group. Magnetic resonance imaging (MRI) was performed on all subjects, and the children were scored with childhood autism rating scale (CARS) and autism behavior checklist (ABC). The expression of miR-499a-5p in serum was detected by RT-qPCR, and the diagnostic value of miR-499a-5p in ASD was evaluated by ROC curve. Pearson correlation coefficient was used to evaluate the correlation between miR-499a-5p levels and scores. Compared with healthy children, the expression level of serum miR-499a-5p was significantly reduced in children with ASD. ROC curve showed that miR-499a-5p is of high diagnostic value for ASD. The results of MRI suggested that the volume of the amygdala in ASD children was significantly larger than that in healthy children, while the volume of the caudate nucleus was significantly reduced. Correlation results showed that the scores of CARS and ABC in the ASD group were significantly negatively correlated with the levels of miR-499a-5p. In the ASD group, the volume of the amygdala was negatively correlated with the level of miR-499a-5p, while the volume of the caudate nucleus was positively correlated with the level of miR-499a-5p. The decreased expression of miR-499a-5p in the serum of children with ASD was significantly related to the changes in brain volume of children with ASD, and the miRNA showed good diagnostic accuracy in children with ASD.

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18. Tafolla M, Singer H, Lord C. Autism Spectrum Disorder Across the Lifespan. Annu Rev Clin Psychol. 2025.

Autism is a neurodevelopmental condition that affects individuals worldwide throughout their lives. Copious advances in research have enhanced our understanding of autism significantly since Dr. Leo Kanner’s first description of the condition in 1943. This review aims to provide an overview of our current knowledge of autism, examining its manifestations across age, race, gender, and co-occurring conditions (e.g., intellectual disability) from childhood through adulthood. We also focus on the identification and diagnosis of autism, long-term outcomes with a spotlight on adulthood, and appropriate supports and interventions across different developmental stages for autistic individuals and their families. We stress the importance of a lifespan perspective that considers the evolving needs of individuals with autism as they age, and we highlight the role of longitudinal research.

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19. Wang D, Jiang Y, Jiang J, Pan Y, Yang Y, Fang X, Liang L, Li H, Dong Z, Fan S, Ma D, Zhang XS, Li H, He Y, Li N. Gut microbial GABA imbalance emerges as a metabolic signature in mild autism spectrum disorder linked to overrepresented Escherichia. Cell Rep Med. 2025; 6(1): 101919.

Gut microbiota (GM) alterations have been implicated in autism spectrum disorder (ASD), yet the specific functional architecture remains elusive. Here, employing multi-omics approaches, we investigate stool samples from two distinct cohorts comprising 203 children with mild ASD or typical development. In our screening cohort, regression-based analysis for metabolomic profiling identifies an elevated γ-aminobutyric acid (GABA) to glutamate (Glu) ratio as a metabolic signature of ASD, independent of age and gender. In the validating cohort, we affirm the GABA/Glu ratio as an ASD diagnostic indicator after adjusting for geography, age, gender, and specific food-consuming frequency. Integrated analysis of metabolomics, 16S rRNA sequencing, and metagenomics reveals a correlation between overrepresented Escherichia and disrupted GABA metabolism. Furthermore, we observe social behavioral impairments in weaning mice transplanted with E. coli, suggesting a potential link to ASD symptomatology. Collectively, these findings provide insights into potential diagnostic and therapeutic strategies aimed at evaluating and restoring gut microbial neurotransmitter homeostasis.

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20. Xie JL, Jiang CY, Sun PP, Zhang Y, Sun N, Luan SX. Prenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review. Medicine (Baltimore). 2025; 104(3): e41300.

RATIONALE: Microcephaly, epilepsy, and developmental delay (MCSZ) is a rare neurodevelopmental disorder associated with autosomal recessive inheritance of mutations in the polynucleotide kinase 3′-phosphatase (PNKP) gene. Prompt identification and management are essential, as delayed diagnosis or intervention may result in severe complications or mortality. In this case, prenatal screening in the second trimester detected fetal microcephaly with a gradual decline in head circumference, prompting the decision to terminate the pregnancy. Subsequent genetic analysis of the fetal tissue confirmed the presence of compound heterozygous mutations in the PNKP gene. PATIENT CONCERNS: The patient, a 34-year-old remarried female with no history of consanguineous marriage, underwent 2 mid-trimester termination procedures due to fetal microcephaly and sought counseling for reproductive assistance. DIAGNOSES: The patient’s carrier status for PNKP mutations was ascertained through whole-exome sequencing of the termination tissue and molecular genetic testing for monogenic disorders. The terminated fetus was diagnosed with MCSZ, a condition associated with compound heterozygous mutations in the PNKP gene. INTERVENTIONS: Fetal microcephaly was identified via mid-trimester prenatal ultrasound, leading to the termination of the pregnancy during the same trimester. Subsequent genetic analysis of the immediate family revealed compound heterozygous mutations in the PNKP gene as the underlying cause of MCSZ. Genetic counseling was provided, followed by 1 cycle of preimplantation genetic testing for monogenic. OUTCOMES: The patient carried the heterozygous c.1188 + 1G > A PNKP mutation, whereas her husband carried the heterozygous c.976G > A PNKP mutation. The fetus was found to have compound heterozygous mutations c.976G > A and c.1188 + 1G > A. After counseling, the couple underwent 1 cycle of preimplantation genetic testing for monogenic, unfortunately, no pregnancy occurred after the 2 embryos were transferred. LESSONS: MCSZ, a condition caused by PNKP mutations, is exceedingly rare. Women with a history of adverse pregnancy outcomes should undergo close monitoring during prenatal checkups. If fetal microcephaly is detected, it is essential to strictly follow obstetric guidelines for prenatal care, such as comprehensive cranial magnetic resonance imaging and genetic testing for confirmation. Avoidance of consanguineous marriages is advised. Early detection and timely intervention are key to preventing adverse pregnancy outcomes.

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21. Zhang W, Cai K, Xiong X, Zhu L, Sun Z, Yang S, Cheng W, Mao H, Chen A. Alterations of triple network dynamic connectivity and repetitive behaviors after mini-basketball training program in children with autism spectrum disorder. Sci Rep. 2025; 15(1): 2629.

Physical exercise has been demonstrated to effectively mitigate repetitive behaviors in children with autism spectrum disorder (ASD), but the underlying dynamic brain network mechanisms are poorly understood. The triple network model consists of three brain networks that jointly regulate cognitive and emotional processes and is considered to be the core network underlying the aberrant manifestations of ASD. This study investigated whether a mini-basketball training program (MBTP) could alter repetitive behaviors and the dynamic connectivity of the triple network. 28 male children with ASD were scanned twice with resting-state functional MRI and assessed for repetitive behaviors using the repetitive behavior scale (RBS-R). 15 children in the exercise group participated in a 12-week MBTP, while 13 in the control group maintained their regular routines. The feature of Dynamic independent component analysis (dyn-ICA) is its ability to capture the rate of change in connectivity between brain regions. In this study, it was specifically employed to examine the triple network dynamic connectivity in both groups. Compared to the control group, the exercise group exhibited distinct dynamic connectivity patterns in two networks: Network 1 involved cross-network dynamic connectivity changes within the triple network, and Network 2 pertained to dynamic connectivity alterations within the default mode network. Furthermore, a reduction in the RBS-R Total score was observed in the exercise group, reflecting improvements in self-injurious behavior and restricted behavior. Correlation analysis revealed that the amelioration of repetitive behaviors was associated with enhanced dynamic connectivity in parts of the triple network. These findings suggest that MBTP can improve repetitive behaviors in ASD children and is linked to changes in triple network dynamic connectivity.

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