1. Amaral de Lara IC, de Souza Wagner PH, Freitas Uchôa Matheus GT, Eduardo Campos L, de Almeida Souza Miranda C, Cavalcanti Souza ME, Aquino de Moraes FC, Alves Kelly F, Rodrigues Fernandes L. Association of prenatal exposure to antiseizure medication with risk of autism: a systematic review and meta-analysis. Seizure. 2025; 130: 41-7.

BACKGROUND: Antiseizure medications (ASMs) can affect neurodevelopment and cause congenital malformations. Autism spectrum disorder (ASD) is characterized by challenges in communication, behavior, and learning. This study evaluated the association between prenatal ASM exposure and ASD development. METHODS: A systematic review and meta-analysis was conducted using PubMed, Scopus, Web of Science, and Cochrane databases to identify studies on fetal ASM exposure and ASD. Hazard ratio (HR) and risk ratio (RR) with 95 % confidence interval (CI) were pooled using a random-effects model. Heterogeneity was assessed using I² statistic. A p-value < 0.05 was considered significant. RESULTS: 10 studies were included in our meta-analysis, comprising 54,747 patients exposed to ASM. Prenatal ASM exposure significantly increased the risk of ASD (HR 1.8082; 95 % CI 1.2616 to 2.5916; P = 0.001; RR 2.0401; 95 % CI 1.7588 to 2.3664; P < 0.0001). Subgroup analyses identified elevated risks with specific ASMs, including carbamazepine (HR 1.2213; 95 % CI 1.0047 to 1.4847; P = 0.045; I² = 0 %), valproate (HR 2.8306; 95 % CI 2.3881 to 3.3550; P < 0.001; I² = 0 %), and oxcarbazepine (HR 1.6141; 95 % CI 1.1500 to 2.2655; P = 0.006; I² = 27 %). Among women with epilepsy, prenatal ASM exposure increased ASD risk (RR 1.4174; 95 % CI 1.2345 to 1.6273; P < 0.0001; I² = 0 %). CONCLUSIONS: This meta-analysis showed that prenatal exposure to antiseizures, particularly valproate, carbamazepine, and oxcarbazepine, significantly increases ASD risk. These findings emphasize the need for cautious ASM use during pregnancy.

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2. Angelina V, Chelsea M, Kelly P, Suzanne M, Katarzyna C. Limited Effect of Masking During COVID-19 Pandemic on ADOS-2 Algorithm Scores in Toddlers With and Without Autism. Autism Res. 2025.

The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) constitutes one of the most widely used diagnostic instruments for autism and involves a direct face-to-face interaction between clinician and child. During the COVID-19 pandemic, administration of the ADOS-2 continued in several countries, with the requirement of face mask protection. It has been hypothesized that mask wearing may have disrupted the dynamic of child-clinician interaction and differentially affected toddlers with autism. We compared ADOS-2 algorithm scores between cohorts of toddlers evaluated before (pre-COVID-19, n = 232) and during the pandemic (COVID-19, n = 116). The COVID-19 cohort included 41 toddlers with autism spectrum disorders (AUT, Mage = 25.4, SD = 3.8), 34 toddlers with other neurodevelopmental conditions (NDC, Mage = 22.3, SD = 5.0), and 41 typically developing toddlers (TD, Mage = 20.4, SD = 3.6) recruited between September 2020 and April 2023. The pre-COVID-19 cohort was selected from 409 assessments conducted from January 2013 to March 2020. Propensity matching was used to match the pre- and COVID-19 cohorts on sex, chronological age, and verbal and nonverbal developmental quotient (DQ) scores. Ordered logistic regression analyses were computed for social affect (SA) and restricted and repetitive behaviors (RRB) algorithm total and item scores, with cohort (pre-COVID-19/COVID-19) as a fixed factor for each diagnostic group. The analyses revealed a limited impact of cohort on the algorithm scores in all three diagnostic groups. Item-level analysis revealed a significant cohort effect only on two out of 20 items: shared enjoyment and joint attention, with higher (more atypical) scores found in the COVID-19 than in the pre-COVID-19 cohorts. The resiliency of the algorithm and item-level scores to the effect of masking speaks to the strength of the diagnostic tool and its ability to capture a range of social, communication, and repetitive behaviors under both standard and nonstandard conditions.

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3. Au-Yeung SK, Freeth M, Thompson AR. ‘Am I gonna regret this?’: The experiences of diagnostic disclosure in autistic adults. Autism. 2025: 13623613251337504.

An increasing number of people receive autism diagnoses in adulthood, and there are few studies investigating autistic adults’ experiences of disclosing their diagnosis. This study sought to understand autistic adults’ experiences of diagnostic disclosure using interpretative phenomenological analysis. Twelve autistic adults, who received their diagnosis in adulthood, participated in one-to-one semi-structured interviews exploring their experiences of diagnostic disclosure. Quality control and reflexivity procedures were used to ensure rigour. Four group experiential themes and nine subthemes emerged: (1) ‘Functions of Disclosure’ (subthemes: i. Accessing Support; ii. Becoming Myself; iii. Activism and its Burden); (2) ‘Approaching the Conversation’ (Subthemes: i. Managing Disclosure and Reactions; ii. Disclosure Started Pre-Diagnosis; iii. Impact on Others); (3) ‘Negative Effects of Preconceptions’ (Subthemes: i. Disbelief and Imposter Syndrome; ii. Not Having My Needs Met; iii. Caution and Avoidance), and (4) ‘Acceptance, Openness and Finding Community’. Disclosure served multiple functions for the autistic participants. There was variability in the support that autistic participants received in preparation for disclosing the diagnosis. More consistent post-diagnostic support is required to engage newly diagnosed autistic adults in considering the practicalities and potential consequences of disclosure, its benefits and challenges.Lay SummaryAn increasing number of people are receiving diagnoses of autism in adulthood. However, there are few studies investigating autistic adults’ experiences of ‘disclosure’, that is, telling others about their autism diagnosis. The aim of this study is to understand autistic adults’ experiences of telling other people that they are autistic after receiving a diagnosis during adulthood. Twelve autistic adults were interviewed about their experiences of disclosure. The interviews showed that autistic people disclose to access support, be themselves and to help others. To disclose, autistic people had to make decisions about what information to share and how to handle people’s reactions. Some people started telling others about their potential diagnosis before being formally diagnosed. Disclosure has an impact on people receiving the news of disclosure. Many autistic people experienced not being believed, resulting in unmet needs. This led them to be more careful about future disclosure. However, disclosure also led to some positive experiences, where autistic people felt listened to and accepted by those they disclosed to. This led to receiving support and feeling part of a community. It is recommended that clinicians and autism service providers include discussions about disclosure as part of routine post-diagnostic support.

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4. Dickson Page S, Trone K, Souders MC, Pinto-Martin JA, Deatrick JA. The Multidimensional Factors That Influence the Family Management of Autism Spectrum Disorder: A Mixed Methods Study. J Fam Nurs. 2025: 10748407251333201.

Children with autism spectrum disorder (ASD) have complex health needs and co-occurring medical and psychiatric diagnoses. Using the Family Management Style Framework, this convergent parallel mixed methods (QUAN + qual) study: (a) examined the intersection of Ability and Effort to define family management patterns and (b) evaluated the influence of child (ASD-related behaviors, feeding difficulties, sleep disturbances, gastrointestinal symptoms, aggression, self-injury), caregiver (anxiety, depression), and family (social support, unmet social needs) factors on family management pattern. Fifty-six primary caregivers of children with ASD completed the quantitative strand of the study. A nested sample of 30 caregivers participated in semi-structured interviews. The four patterns of family management were similar to those previously identified. Data from quantitative measures and interviews converged to identify that specific child characteristics (ASD behaviors, sleep disturbances, aggression, self-injury) and the caregiver’s perceived social support influence family management. Descriptions of family management patterns and their correlates are important to guiding family nursing for this population.

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5. Esfahan SM, Sepahi N, Rezayat E. How autism impacts children’s working memory for faces. J Clin Exp Neuropsychol. 2025: 1-9.

This study investigates visual working memory (WM) performance in children aged 7-12 years with Autism Spectrum Disorder (ASD) compared to typically developing (TD) peers, focusing on face stimuli to evaluate social-relevant memory processing. The research aims to identify differences in visual WM functioning and determine whether errors in recall stem from reduced precision or increased random guessing. Participants completed a visual WM task requiring them to memorize and reproduce the orientations of faces presented on a screen. Results demonstrated that children with ASD exhibited significantly poorer overall visual WM accuracy than TD children. A fine-grained analysis of error patterns revealed that the ASD group showed markedly lower precision in recalling spatial details of the stimuli, indicating less stable or detailed memory representations. However, rates of random guessing-a measure of attentional lapses or task disengagement-did not differ significantly between groups. These findings underscore that visual WM deficits in ASD are primarily driven by reduced precision rather than fluctuations in attention or motivation. The study highlights the importance of precision-based mechanisms in understanding atypical cognitive profiles in ASD, offering insights into potential interventions targeting memory consolidation or perceptual encoding strategies to enhance functional outcomes. By isolating precision as a key deficit, this work advances theoretical models of visual WM and informs tailored approaches to support memory-related challenges in ASD.

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6. Gouws E. Transitioning from autism self-advocacy to advocating for the neurodiverse community. Afr J Disabil. 2025; 14: 1560.

BACKGROUND: In this article, I reflect on my continuing journey of becoming an autism self-advocate and how this has extended to advocate for the broader neurodiverse community. OBJECTIVES: I aimed to provide an academic analysis of the value of autism self-advocacy with special reference to building resilience to confront discrimination and advocating for equal opportunities, support and inclusion. METHOD: My autoethnographic reflections are fused with those of my co-constructors to present critical incidents that defined my journey of becoming an internationally recognised advocate for autism. RESULTS: Education has been the transformative force that has changed my life, granting me opportunities to advocate for my broader neurodiverse community on various local and international platforms and guiding me to create an ecosystem of family and professionals who continuously support me and others who are neurodiverse. My advocacy, which aims at raising autism awareness, has changed the perceptions of the community of practice as well as others with an interest in supporting and including individuals living with autism in a significant way. CONCLUSION: A network of care and support is required to sustain autism self-advocacy and to build on it to advocate for the broader neurodiverse community. CONTRIBUTION: This demonstrates the need for educating stakeholders to raise their expectations for autistic children and adults and for teachers and psychologists to continue supporting families and children with Autism Spectrum Disorder (ASD) to realise their full human potential.

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7. Hundle A, Atkins S, McAnenny S, Rashid N, Dalton CL. Multidisciplinary Team Otology Clinics Dedicated to Adult Patients With Learning Disabilities and/or Autism Spectrum Disorder: A Quality Improvement Project. Clin Otolaryngol. 2025.

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8. Liu Y, Whitfield TW, Bell GW, Guo R, Flamier A, Young RA, Jaenisch R. Exploring the complexity of MECP2 function in Rett syndrome. Nat Rev Neurosci. 2025.

Rett syndrome (RTT) is a neurodevelopmental disorder that is mainly caused by mutations in the methyl-DNA-binding protein MECP2. MECP2 is an important epigenetic regulator that plays a pivotal role in neuronal gene regulation, where it has been reported to function as both a repressor and an activator. Despite extensive efforts in mechanistic studies over the past two decades, a clear consensus on how MECP2 dysfunction impacts molecular mechanisms and contributes to disease progression has not been reached. Here, we review recent insights from epigenomic, transcriptomic and proteomic studies that advance our understanding of MECP2 as an interacting hub for DNA, RNA and transcription factors, orchestrating diverse processes that are crucial for neuronal function. By discussing findings from different model systems, we identify crucial epigenetic details and cofactor interactions, enriching our understanding of the multifaceted roles of MECP2 in transcriptional regulation and chromatin structure. These mechanistic insights offer potential avenues for rational therapeutic design for RTT.

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9. Nollace L, Panagiotis D, Convertini J, Grilo N, Ansermot N, Guinchat V. Case report: Case series of urinary retention in young adults with severe autism hospitalized for behavioral crisis. Front Psychiatry. 2025; 16: 1570436.

BACKGROUND: Behavioral regressions in low verbal patients with severe autism constitute a dramatic challenge for clinicians. A physical comorbidity burden is often involved but difficult to evidence. AIM: We present five cases of patients under 30 years old (three men and two women), recently hospitalized in a specialized multidisciplinary inpatient unit, settled in Lausanne University Hospital, and for which at some point, a urinary retention contributed to the constitution of a complex behavioral picture. METHODS: For each patient, we report the individual risk factors, clinical presentation and the conditions for making the diagnosis. RESULTS: As the usual guidelines for screening, management, and follow-up of urinary retentions are irrelevant in this population, we provide and discuss some recommendations: limitation of anticholinergic burden, strict application of the protocol for going to the toilet with training protocol, regularization of intestinal transit, daily bladder-scan control, and eventually use of Tamsulosin hydrochloride. These recommendations significantly improved the urinary status of our patients. CONCLUSION: We conclude that chronic urinary retention is probably a recurrent and unrecognized feature in many young adults with autism and challenging behaviors, reflecting the long-term impact of iatrogenic medication and requiring a specific attention.

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10. Parsons K, Payne S, Bhaska L, Wallace J, Holt N. A systematic review of behaviour change techniques employed in interventions aimed to change physical activity behaviour in autistic individuals. Psychol Sport Exerc. 2025; 79: 102867.

BACKGROUND: Autistic individuals experience disproportionately poor physical and mental health outcomes, many of which can be mitigated through lifestyle modification such as increasing levels of physical activity. While behaviour change interventions hold promise in promoting physical activity, their effectiveness in autistic populations remains underexplored, particularly in relation to theoretical foundations and intervention content. OBJECTIVE: To systematically review behaviour change techniques applied to physical activity interventions for autistic individuals, evaluate application of psychological theory, and adaptations made for autism. METHODS: A systematic search of five databases was conducted in accordance with PRISMA guidelines. Eligible studies were intervention-based, targeted physical activity behaviour as a primary outcome, and included autistic participants. Data were narratively synthesised, and intervention components were coded using the Behaviour Change Taxonomy (BCTTv1). Intervention efficacy was evaluated using a ‘promise ratio’ and statistical comparisons were conducted to assess associations between intervention promise, Behaviour Change Techniques, theory use, and autism-specific adaptations. RESULTS: Thirty-three studies were included (n = 26 child-focused; n = 7 adult-focused). Eleven studies reported explicit use of behaviour change theory, with no significant association between theory use and intervention promise. A total of 266 BCTs were coded; most frequently used was instruction on how to perform the behaviour, though not associated with efficacy. In adults, promising techniques included goal setting and behavioural rehearsal; in children, demonstration and reinforcement were effective. Autism-specific adaptations were significantly associated with intervention promise and included sensory considerations and structured environments. CONCLUSIONS: Theory-informed, autism-adapted interventions show potential for promoting physical activity in autistic populations. Future research should prioritise high-quality designs, meaningful involvement of autistic individuals, and rigorous application of behavioural theory. PROSPERO REGISTRATION: CRD42021235140.

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11. Pu Y, Li F, Zhu T, Li J, Zhou W, Zhang L, Chen J, Zhang Q, Ren T, Li F. Disease and mortality trajectories of cognitively able autistic individuals in mid- and later adulthood. BMC Med. 2025; 23(1): 280.

BACKGROUND: An increasing number of autistic adults have entered their later life, but little is known about the disease trajectory in mid- and later adulthood. We aimed to examine the patterns of comorbidity progression in adults with autism spectrum disorder (ASD) that may affect their mortality. METHODS: Participants were identified from the UK Biobank study. We first identified individuals with ASD diagnosis, each of whom was randomly matched to up to 10 participants without ASD diagnosis. Cox regression was used to estimate the hazard ratio (HR) of mortality. Disease trajectory analysis was performed to investigate temporal sequencing of medical conditions and mortality associated with ASD. A multistate model was used to investigate the association patterns between ASD and three common chronic conditions: cardiovascular disease/hypertension, type 2 diabetes and disorders of lipoprotein metabolism, and depression/anxiety. RESULTS: The study included 659 ASD cases (66.8% male; mean age 52.0 [SD, 8.1]) and 6590 matched non-autistic individuals. ASD were associated with a 90% higher all-cause mortality (HR, 1.90, 95% CI, 1.41-2.55) and also higher risks of 45 medical conditions across almost all body systems (all Bonferroni-adjusted P < 0.05). Trajectory analyses exhibited three clusters of medical conditions that predisposed autistic adults to excess mortality: cardiometabolic diseases, external conditions, and infectious diseases. Autistic adults showed not only an overall increased risk of progression of multimorbidity but also distinctive association patterns across different disease transitions. CONCLUSIONS: Our findings show patterns of comorbidities among autistic adults in their mid- and later adulthood, which could provide information to their caregivers to implement appropriate disease management and prevention strategies.

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12. Putnam RT, Hughes PM, Atkins CC, Belden CM. A Consultation Model for Intellectual and Developmental Disability Care. J Am Board Fam Med. 2025; 38(1): 180-7.

PURPOSE: To provide an overview of an innovative, consultative care model for patients with Intellectual and Developmental Disabilities (IDD) within a Family Medicine department. METHODS: We conducted a retrospective chart review of all patients seen in the clinic between 2017 to 2023 to identify patient demographics (eg, age), clinical needs (eg, diagnoses and referral needs), and administrative characteristics (eg, Medicaid status). We also conducted a spatial analysis to evaluate each patient’s estimated travel distance and time to the clinic. RESULTS: The number of patients seen in the IDD clinic totaled 184, with 65% male patients (n = 120) and a mean age of 31.29 years (SD = 16.27). More than half of patients, 65%, were insured by Medicaid (n = 119), and almost half received services paid for by the state Medicaid waiver (43%, n = 80). Many patients lived with family (64%, n = 117) and reported family guardianship (55%, n = 101). The spatial analysis identified that the majority of patients, 86% (n = 159) were nonrural residents based on Rural-Urban Continuum Codes. The mean distance traveled was 20.41 (SD = 21.36) miles with a mean travel time of 27.08 minutes (SD = 21.78). Following the consultations, 38% received outgoing referrals. Referral locations included psychiatry (8%), neurology (3%), behavioral health counseling (3%), and other medical services (17%). CONCLUSION: This study demonstrates the diverse characteristics of patients with IDD receiving care through a consultative-based model of care. This model appeared to provide services for patients from a wide geographic catchment area that may not have otherwise had health care access.

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13. Sharma A, Fogler J, Van Scoyoc A, Phelps R, Augustyn M. Clinical Presentation and Questions of Identity, Camouflaging, and Self-diagnosed Autism in a Nonbinary Young Adult. J Dev Behav Pediatr. 2025.

Vee is a nonbinary (sex assigned at birth: female) 16-year-old 11th grader presenting for their initial multidisciplinary team assessment (including developmental-behavioral pediatrics and psychological assessment). Vee’s family first became concerned about their development when they were in pre-kindergarten. The school had concerns related to autism and provided Vee with an Individualized Education Plan (IEP) for autism-related services, although a formal medical diagnosis was never made. Vee « lost » the autism classification and associated services when they were in the first grade and no longer qualified for an IEP. However, concerns regarding social skills and identity persist 10 years later, and Vee is now questioning whether they are on the autism spectrum. Vee has carried historical diagnoses of obsessive-compulsive disorder (OCD), anxiety, depression, attention-deficit hyperactivity disorder, and specific learning disabilities-none of these diagnoses entirely explaining or satisfying Vee’s long-standing sense of neither understanding nor being understood by others. Although symptoms of OCD, including intrusive thoughts, have significantly improved with therapeutic intervention, Vee still struggles with mood and anxiety. Their anxious tendencies include hair pulling and storing the hair in boxes. They « hate » school and often engage in school refusal; this has notably worsened since Vee entered middle school. Upon the start of high school, Vee disclosed that they identify as nonbinary to their parents, best friends, and school counselor.Vee struggles with social interactions, especially in novel social situations, and there is a history of bullying. They have 2 best friends, who both recently moved away. Most of their friends are in the online community. Vee has always preferred independent play, loves anime and rescuing animals, and is very imaginative and artistic. Vee has an early history of lining up items, toe-walking, and sensory sensitivities to loud noises, aesthetics of rooms and clothing, and textures of clothing. Vee can be aggressive toward their mother when they are frustrated and may even punch walls. They are not aggressive with any other individuals. Her mother wonders where « nonbinary begins and neurodiversity ends, never mind just being a teenager! »During the course of the assessment, which included Module 4 of the Autism Diagnostic Observation Schedule, Second Edition, Vee used little to no eye contact to manage their social interactions. They spoke in a flat monotone, and their use of gestures was greatly reduced for age; their gestures were also stiff and poorly coordinated. During the course of the assessment, Vee narrated their thought process in what they characterized as their « vocal stim »: silly voices, catch-phrases and blurted swear-words. Vee explained how they use their vocal stim at different times to discharge nervous energy, entertain friends, and cope with challenging situations. Vee and their family are desperately seeking an answer to why they are so « different » from other young adults. Ultimately, the team conferred a diagnosis of autism spectrum disorder, much to the relief and expressed appreciation of Vee and their family. How can the team proceed from here and support Vee and their family?

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14. Si Y, Zhang H, Du L, Deng Z. Abnormalities of brain dynamics based on large-scale cortical network modeling in autism spectrum disorder. Neural Netw. 2025; 189: 107561.

Synaptic increase is a common phenomenon in the brain of autism spectrum disorder (ASD). However, the impact of increased synapses on the neurophysiological activity of ASD remains unclear. To address this, we propose a large-scale cortical network model based on empirical structural connectivity data using the Wendling model, which successfully simulates both pathological and physiological electroencephalography (EEG) signals. Building on this, the EEG functional network is constructed using the phase lag index, effectively characterizing the functional connectivity. Our modeling results indicate that EEG activity and functional network properties undergo significant changes by globally increasing synaptic coupling strength. Specifically, it leads to abnormal neural oscillations clinically reported in ASD, including the decreased dominant frequency, the decreased relative power in the α band and the increased relative power in the δ+θ band, particularly in the frontal lobe. At the same time, the clustering coefficient and global efficiency of the functional network decrease, while the characteristic path length increases, suggesting that the functional network of ASD is inefficient and poorly integrated. Additionally, we find insufficient functional connectivity across multiple brain regions in ASD, along with decreased wavelet coherence in the α band within the frontal lobe and between the frontal and temporal lobes. Considering that most of the synaptic increases in ASD are limited, brain regions are further randomly selected to increase the local synaptic coupling strength. The results show that disturbances in local brain regions can also facilitate the development of ASD. This study reveals the intrinsic link between synapse increase and abnormal brain activity in ASD, and inspires treatments related to synapse pruning.

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15. Srivastava V, O’Reilly C. Characteristics of cerebrospinal fluid in autism spectrum disorder – A systematic review. Neurosci Biobehav Rev. 2025; 174: 106202.

Autism Spectrum Disorder (ASD) is a range of neurodevelopmental conditions characterized by impaired social interaction, learning, and restricted or repetitive behaviors. The underlying causes of ASD are still debated, but researchers have found many physiological traits like gut problems and impaired immune system to help understand the etiology of ASD. Cerebrospinal fluid (CSF) plays a critical role in maintaining the homeostasis of the neuronal environment and has, therefore, been analyzed in multiple conditions impacting the central nervous system. The study of CSF is crucial to understanding neurological disorders as its composition changes with the disorders, and these changes may indicate various disorder-related physiological mechanisms. For this systematic review, we searched PubMed, Scopus, and Web of Science for studies published between 1977 and 2025 and selected 49 studies after manual screening. We took stock of the evidence supporting the hypothesis that ASD alters the properties and composition of CSF. We systematically report on the different attributes of CSF in the ASD population that could be potential biomarkers and assist in understanding the origins and progression of ASD. We found that in CSF, immune markers, proteins, extra-axial CSF, folate, oxytocin, and vasopressin showed changes in ASD compared to the neurotypicals. We observed gaps in the literature due to variations in age and sample size and noted biases related to sex (i.e., samples are predominantly including male participants) and age (i.e., a handful of studies were conducted on adults). Our review highlights the need for more research on CSF in ASD to improve our understanding of this disorder and identify CSF biomarkers.

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16. Tapia YY, Ciaccio C, Bacınoğlu MB, D’Arrigo S, Sciacca FL. A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders. Genes (Basel). 2025; 16(5).

Genetic studies have identified numerous candidate genes for neurodevelopmental disorders associated with intellectual disability (ID) and autism spectrum disorders (ASD). Some genetic anomalies are very rare or challenging to detect, making it essential to validate the presence of gene mutations or copy number variations in additional patients with similar clinical phenotypes. Background/Objectives: Case reports play a crucial role in this process by validating rare variants in phenotypically matched patients, shedding light on novel candidate genes linked to these disorders. Methods: Patients with ID and ASD underwent neurological examinations, brain magnetic resonance imaging (MRI), sleep and wake electroencephalogram (EEG), neuropsychological evaluations, and laboratory tests including molecular analysis for fragile-X syndrome and array comparative genomic hybridization (aCGH). Results: We observed a patient with ID and ASD who carried a microdeletion in Xq22.1 that affects only exon 1 and intron 1 of the Nuclear RNA Export Factor 5 (NXF5) gene. The patient’s phenotypic features overlap with those of the only four previously reported cases of variations involving the same gene. Conclusions: Our findings suggest that NXF5 may play a role in neurodevelopmental disorders and should be considered in the spectrum of X-linked ID associated with ASD.

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17. Traetta I, Gabbatore I, Aimar A, Arduino GM, Bosco FM. Assessing communicative-pragmatic ability in telehealth: e-ABaCo in autistic individuals. Front Psychiatry. 2025; 16: 1568108.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social communication. Autistic individuals who are verbally fluent, often show difficulties in pragmatic ability, i.e. the capacity to use language and other expressive means, as gestures or the tone of the voice, to convey meaning in a given context. During the COVID-19 pandemic, the use of various technologies such as videoconferencing and internet for the delivery of healthcare services, i.e. telehealth, has proven to be effective, accessible and safe tools for remote healthcare. However, there are few tools to assess pragmatic skills in telehealth. This study investigates the effectiveness of the telehealth-adapted Assessment Battery for Communication (e-ABaCo), a clinical tool previously validated for in-person assessments, to evaluate pragmatic abilities in autistic individuals. We expect a substantial equivalence in performance for the administration of the adapted version of e-ABaCo compared to the face-to-face one. METHODS: We compared the performance of 30 autistic adolescents, of which 15 assessed via telehealth (ASD TH) and 15 assessed face-to-face (ASD FtF), with that of 15 adolescents with typical development (face-to-face assessment). The groups were matched for age, sex, and intellectual quotient. E-ABaCo was used to assess both comprehension and production of communicative ability realized through different expressive means, i.e. linguistic, extralinguistic and paralinguistic, as well as social appropriateness. RESULTS: In line with the expectation, the pragmatic performance of autistic adolescents showed a substantial equivalence when comparing the assessments conducted via telehealth and face-to-face modality. Moreover, in line with the relevant literature, there was a significant difference between the ASD groups’ performance (both FtF and TH) and the control group of the adolescents with typical development (CG FtF) in all pragmatic aspects assessed, i.e. the Pragmatic total score, comprehension and production abilities, and all the expressive means investigated. DISCUSSION: These results confirm the potential usefulness of telehealth assessment procedures, and demonstrate the sensitivity and validity of e-ABaCo for conducting an effective assessment of pragmatic skills in on-line modality in autistic adolescents.

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18. Uygun SD, Çıkılı Uytun M, Konşuk Ünlü H, Akgül Doğru A, Aktaş Altunay S, Öztop DB, Kılıç BG, Munir K. Validation of the Turkish version of the Developmental Behavior Checklist: a comprehensive tool for assessing emotional, behavioral, and autism spectrum disorders in children and adolescents with intellectual disabilities. Front Psychiatry. 2025; 16: 1579629.

INTRODUCTION: The Developmental Behavior Checklist (DBC) is a standardized tool for evaluating emotional and behavioral concerns in children and adolescents with intellectual disabilities (ID) in clinical and research settings. This study aims to validate the Turkish versions of the DBC autism screening algorithm (ASA), parent (P) and teacher (T) forms. METHODS: Parents and teachers of 312 children and adolescents aged 4-17 with ID completed the Turkish versions of the DBC forms and the Strengths and Difficulties Questionnaire (SDQ). The presence of ASD or any other psychiatric disorder was assessed through clinical evaluation based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR) guidelines. Analyses of validity and reliability were conducted to evaluate the internal consistency, sensitivity, specificity, area under the curve (AUC), convergent validity, inter-rater reliability, and test-retest reliability. RESULTS: Among the participants, 30.6% (n=70) had a psychiatric comorbid diagnosis according to the DSM-5-TR. DBC-P exhibited a sensitivity of 64.4%, a specificity of 87.6%, and an AUC of 76%. DBC-T demonstrated a sensitivity of 89.7%, a specificity of 75.8%, and an AUC of 82.7%. Additionally, 23.1% (n=45) were diagnosed with autism spectrum disorder (ASD). The DBC-ASA showed a sensitivity of 58.1%, a specificity of 64.6%, and an AUC of 61.3%. The DBC forms displayed strong internal consistency, robust test-retest reliability, and significant correlation with the SDQ measures. Inter-rater agreement between the DBC-P and DBC-T was low to moderate. A significant difference between parent and teacher assessments highlights the need for multi-informant approaches (p <.001). DISCUSSION: The DBC-P and DBC-T exhibit high validity and reliability, while the DBC-ASA shows moderate accuracy. This study acts as a valuable resource for clinicians, providing enhanced support for Turkish children and adolescents with ID.

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19. Zhao X, Kuo F, Chen X, Li D, Duan H. Parent-Mediated Interventions for ASD Under 3 Years: A Systematic Review, Meta Analysis, and Moderator Analyses. J Autism Dev Disord. 2025.

This study aimed to assess the effectiveness of PMIs for ASD under 3 years, and explore potential moderators influencing the effectiveness through moderator analyses. The study searched five English databases for randomized controlled trials (RCTs). The meta-analysis was conducted using a random-effects model to calculate Hedges’s g. Subgroup analyses and meta regression assessed the effects of potential moderators on PMIs effectiveness, with evidence quality evaluated using GRADE. A total of 31 RCTs were included in the systematic review, with 26 included in the meta-analysis. The results showed a small overall beneficial effect of PMIs on ASD under 3 years (g = 0.20). Small to trivial positive effects were found in several subdomains, including adaptive skills (g = 0.29), parent responsiveness (g = 0.23), parent-child interaction (g = 0.35), social communication (g = 0.18), and symptoms (g =  - 0.22). However, PMIs did not show statistically significant effects on children’s cognitive competence, language, or motor skills domains. Subgroup analysis and meta-regression explored potential moderators, but none significantly influenced the effectiveness of PMIs. The GRADE assessment showed that the certainty of the evidence ranged from moderate to low. This study confirmed that PMIs demonstrate positive effects on children under 3 years old with ASD, and showed beneficial outcomes in most subdomains. However, the evidence was of moderate to low certainty, so these findings should be interpreted with caution. In the future, broader databases and more large-scale, multicenter, high-quality clinical studies are needed to confirm these effects.

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