1. Ahmed AFM, Thobias RB, Thirumavalavan N, Thangamani S, Nair LDV. Obesity with developmental delay in infancy: a rare cause not to miss-pseudohypoparathyroidism. BMJ Case Rep. 2025; 18(2).

Mild developmental delay in infants with obesity is often disregarded, attributing it to increased weight by parents and practitioners. We report an infant with obesity and gross motor delay after the first 6 months of age, seizures and obstructive sleep apnoea. The child was diagnosed with pseudohypoparathyroidism (PHP) and was medically managed with parenteral calcium, vitamin D and magnesium. Appropriate early interventions by developmental therapists addressing the developmental domains coordinated by developmental paediatricians and relevant drug and diet management corrected the delay. The child is followed up for soft tissue calcifications, kidney functions and skeletal health. This case highlights the importance of early recognition and comprehensive management of correctable conditions like PHP by developmental specialists rather than addressing only the developmental aspect of it.

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2. Alsbakhi A, Thabtah F, Lu J. Autism Data Classification Using AI Algorithms with Rules: Focused Review. Bioengineering (Basel). 2025; 12(2).

Autism Spectrum Disorder (ASD) presents challenges in early screening due to its varied nature and sophisticated early signs. From a machine-learning (ML) perspective, the primary challenges include the need for large, diverse datasets, managing the variability in ASD symptoms, providing easy-to-understand models, and ensuring ASD predictive models that can be employed across different populations. Interpretable or explainable classification algorithms, like rule-based or decision tree, play a crucial role in dealing with some of these issues by offering classification models that can be exploited by clinicians. These models offer transparency in decision-making, allowing clinicians to understand reasons behind diagnostic decisions, which is critical for trust and adoption in medical settings. In addition, interpretable classification algorithms facilitate the identification of important behavioural features and patterns associated with ASD, enabling more accurate and explainable diagnoses. However, there is a scarcity of review papers focusing on interpretable classifiers for ASD detection from a behavioural perspective. Thereby this research aimed to conduct a recent review on rule-based classification research works in order to provide added value by consolidating current research, identifying gaps, and guiding future studies. Our research would enhance the understanding of these techniques, based on data used to generate models and obtain performance by trying to highlight early detection and intervention ways for ASD. Integrating advanced AI methods like deep learning with rule-based classifiers can improve model interpretability, exploration, and accuracy in ASD-detection applications. While this hybrid approach has feature selection relevant features that can be detected in an efficient manner, rule-based classifiers can provide clinicians with transparent explanations for model decisions. This hybrid approach is critical in clinical applications like ASD, where model content is as crucial as achieving high classification accuracy.

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3. Anindya I, Sekartini R, Ariyanto IA, Wiguna T, Sari NP, Rahayu YS, Soebandrio A. Cytomegalovirus-Reactive IgG Correlates with Increased IL-6 and IL-1β Levels, Affecting Eating Behaviours and Tactile Sensitivity in Children with Autism. Biomedicines. 2025; 13(2).

BACKGROUND/OBJECTIVES: Elevated cytokine levels, including IL-6 and IL-1β, can contribute to persistent brain inflammation in children with autism and cytomegalovirus (CMV) infection, exacerbating autism-related behaviours and symptoms. This study evaluates the impact of CMV-induced cytokine increases on the eating behaviours and sensory profiles of children with autism. METHODS: A cross-sectional design was employed, involving children aged two to five years (CMV-reactive IgG), with ASD (n= 98) and TD (n = 96). Serological tests using ELISA were conducted to measure IgG CMV, IL-6, and IL-1β biomarkers. Eating behaviours were evaluated using the BAMBI (Brief Autism Mealtime Behaviour Inventory), and sensory profiles were assessed using the SSP (Short Sensory Profile). Statistical analyses were performed using Spearman’s rank and chi-square tests. RESULTS: The results show that autism significantly affects children’s eating behaviours and sensory profiles (p < 0.001), with notable differences found between the groups. Correlation analysis revealed a significant association between IgG CMV and IL-6 (p = 0.026) and IL-1β (p = 0.014) in the ASD group. Additionally, eating behaviours (food refusal and limited variety) in ASD correlated with IL-6 and IL-1β. Sensory characteristics, such as tactile sensitivity, were found to correlate with IL-6 (p = 0.027) and IL-1β (p = 0.002) in the ASD group. CONCLUSIONS: These findings suggest that CMV-infected children with autism are at increased risk of IL-6 and IL-1β dysregulation, contributing to sensory processing issues and eating behaviours. Further research is needed to enhance CMV testing protocols and better understand the virus's role in the development of sensory and behavioural issues in children with autism.

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4. Będziechowska-Czyżewska M, Malak R, Romanowski M, Andrusiewicz M, Samborski W, Baum E. Postural Differences in Speaking Versus Non-Speaking Children with Autism Spectrum Disorder. Children (Basel). 2025; 12(2).

Background/Objectives: Autism spectrum disorder (ASD) is a heterogeneous condition with diverse symptoms influenced by factors like gender, severity and the involvement of family and therapists. While many risk factors that contribute to ASD development are known, the exact etiology remains unclear. The relationship between speech ability and postural/gait patterns in ASD has not been extensively studied. This study aimed to verify if the ability to speak can affect body posture and gait patterns. Methods: The study involved 28 boys aged 6-17. The postural assessment used the Adams test, Bunnell scoliometer, goniometer, and inclinometer to measure trunk rotation, joint range of motion, and spinal curvature. Trunk muscle strength was assessed via a flexion test measuring position maintenance time. This study compare body posture parameters in speaking and non-speaking children with Autism Spectrum Disorders. Moreover the parameters were compared to the general norms. Results: The study observed a tendency for speaking children to deviate more from normative body posture. They presented shoulder protraction more often, increased lumbar lordosis angle, and anterior pelvic tilt. Additionally, non-speaking children were more prone to toe-walking, which, according to other studies, is present in approximately 8-9% of all children with autism spectrum disorders. Both groups presented a decreased angle of dorsal flexion in the ankle joint. Conclusions: This study suggests that speaking children with ASD exhibit greater anterior-posterior postural deviations (increased lumbar lordosis, shoulder protraction, anterior pelvic tilt) than non-speaking children. ASD did not affect scoliosis or trunk rotation. Non-speaking children showed a higher incidence of toe-walking. However, the small sample size limits the generalizability of these findings.

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5. Cagiano R, Mancini A, Berni M, Maccarrone F, Arena B, Cosenza A, Pecini C, Igliozzi R, Calderoni S, Tancredi R. Psychiatric Comorbidities in Autistic Adolescents Without Intellectual Impairment: A Focus on Parent- and Self-Reported Psychopathological Assessment. Brain Sci. 2025; 15(2).

Background: Co-occurring conditions and psychiatric comorbidities are more frequently observed in autistic individuals than in typically developing populations. Objective: The present study aimed to investigate the agreement of parent- and self-reported psychopathological assessment using the Child Behavior Checklist (CBCL/6-18) and the Youth Self Report (YSR/11-18), respectively, in autistic adolescents without intellectual impairment. Methods: 54 autistic adolescents without intellectual impairment (11-18 years; M = 14.73; SD = 2.28) were assessed with a psychiatric and psychological evaluation conducted by expert clinicians also using self- and parent-reported scales and semi-structured interviews (K-SADS PL, CDI, MASC) including CBCL/6-18 and YSR/11-18. Results: According to clinical judgment, over 90% of participants had at least a comorbidity: anxiety (68.5%) and mood disorder (57.4%) were the most frequent. The results indicate significant discrepancies between parent- and self-reports across the three summary scales, which assess emotional and behavioral problems, as well as their combined presentation, often observed in youth with ASD. Specifically, differences were found in Internalizing (p < 0.001), Externalizing (p = 0.013), and Total Problems (p < 0.001) scales. Conclusions: The findings show the lack of agreement in parent- and self-reported scales in our sample. These results suggest the need for a cross- and multi-informant approach to support clinical judgment and understand psychopathological comorbidities of autistic adolescents without intellectual impairment.

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6. Chen YC, Liang FW, Tan PH, Ho CH, Chang YJ, Hung KC, Chen JY, Yu CH. Association between general anesthesia for cesarean delivery and subsequent developmental disorders in children: a nationwide retrospective cohort study. BMC Med. 2025; 23(1): 119.

BACKGROUND: Exposure to general anesthetics (GA) in early childhood is associated with developmental disorders. However, few studies have addressed in-utero exposure to anesthetics during delivery and subsequent developmental disorders in the offspring. This study aimed to investigate whether GA for cesarean delivery is associated with developmental disorders in children. METHODS: Using data retrieved from the National Health Insurance Research Database linked to the Birth Reporting Database and the Maternal and Child Health Database between 2015 and 2020, this nationwide retrospective cohort study compared the incidence of developmental disorders following cesarean delivery under GA with that under neuraxial anesthesia (NA). Developmental disorders were diagnosed using the corresponding International Classification of Diseases codes traced 2-6 years after delivery. RESULTS: After excluding twins, children born with congenital anomalies or diseases and those with missing data, 325,309 eligible singleton pregnancies delivered through cesarean section under either GA or NA were enrolled. Of the total, 6973 of them were delivered under GA and 318,336 under NA. After propensity score-based fine stratification weighting with a model including age, socioeconomic deprivation, gestational status, infant sex, preterm delivery, low birth weight, and cesarean delivery duration, children delivered under GA were associated with a higher risk of developmental disorders diagnosed within 2 years (adjusted odds ratio [aOR], 1.17; 95% confidence interval [CI], 1.07-1.28), 3 years (aOR, 1.12; 95% CI, 1.04-1.21), and 4 years (aOR, 1.12; 95% CI, 1.04-1.21) compared with those under NA. This association was no longer present when the confounding effect of Apgar scores was included in the propensity-score model. CONCLUSIONS: GA for cesarean delivery may be associated with developmental disorders diagnosed within 2-4 years after birth manifested through poorer 1- and 5-min Apgar scores. There is no evidence of a direct relationship between GA-related neurotoxicity and subsequent developmental disorders.

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7. Chiriatti L, Priolo M, Onesimo R, Carvetta M, Leoni C, Bruselles A, Radio FC, Cappelletti C, Ferilli M, Ricci D, Niceta M, Cordeddu V, Ciolfi A, Mancini C, Zampino G, Tartaglia M. The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies. Genes (Basel). 2025; 16(2).

Background/Objectives: Heterozygous variants in the heterogeneous nuclear ribonucleoprotein C gene (HNRNPC) have recently been reported to cause intellectual developmental disorder-74 (MRD74), a neurodevelopmental disorder with no recurrent diagnostic handles. Affected individuals show variable, non-specific, and subtle dysmorphic features. The degree of developmental delay (DD)/intellectual disability (ID) is also wide, ranging from mild to severe. The mutational spectrum is relatively broad with exon deletions and splice site and frameshift variants distributed along the entire length of the gene leading to HNRNPC loss of function. Only two missense changes located within the RNA-binding motif (RBM) and adjacent linker region of the more abundant isoform (Arg64Trp and Arg99Gln) have been described. Notably, the Arg99Gln amino acid substitution was reported in a subject presenting with a more complex and unique clinical phenotype characterized by distinctive facial features, DD/ID, cochlear aplasia, and bilateral colobomatous microphthalmia, suggesting the possible occurrence of phenotypic heterogeneity. Results: Here, we report the second individual carrying the Arg99Gln change in HNRNPC and having clinical features with a significant overlap with the peculiar phenotype of the previously described subject, supporting the occurrence of a genotype-phenotype correlation. Conclusions: Due to the concomitant occurrence of ocular and cochlear involvement as recognizable diagnostic handles, we propose that the HNRNPC(Arg99Gln)-related phenotype should be considered as a potential differential diagnosis in subjects with ID and major signs of CHARGE syndrome not fulfilling the minimum criteria for a clinical diagnosis.

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8. Costa JRR, de Matos DC. Teaching Communication and Functional Life Skills in Children Diagnosed with Autism Spectrum Disorder. Behav Sci (Basel). 2025; 15(2).

Children with autism spectrum disorder (ASD) commonly show difficulty in communication and daily functional skills. The use of scripts may help establish these repertoires. Scripts may be visual (e.g., pictures depicting actions), textual (e.g., printed or written sentences depicting actions), or auditory (e.g., recorded or dictated phrases depicting actions). BACKGROUND/OBJECTIVES: The purpose was to assess the efficacy of script fading in establishing the vocal verbal emission of sentences under the control of pictures representing actions from four behavioral sequences (e.g., brushing teeth) in three children with ASD. The effects of the intervention on the emergence of related non-verbal repertoires were evaluated. During intervention, the scripts were textual for one participant, who initially read the sentences. For the remaining two participants, scripts were dictated to them so they could repeat them. Across sessions, scripts were faded out by gradually omitting the words from the sentences. RESULTS: Script fading produced the emission of sentences solely in the presence of pictures (tacts according to a Skinnerian approach of language), replicating a previous study in which the same procedure also established the same type of repertoire. However, as an extension, in the current investigation, related non-verbal actions also emerged. Other previous studies into script fading were not specifically concerned with teaching tacts and probing the emergence of related non-verbal untaught repertoires. CONCLUSIONS: The data were interpreted as indicating correspondence between verbal and non-verbal behavior or « say-do » correspondence. The data were discussed in the sense that script fading, for some learners, may improve communication with sentences that impact the acquisition of related non-verbal behavioral chains. Limitations of the research were discussed.

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9. Ćuk M, Unal B, Bagarić M, Krakar G, Walker M, Hayes CP, Gašpić B, Skular G, Ghazani AA. Novel TBR1 c.1303C>T Variant Led to Diagnosis of Intellectual Developmental Disorder with Autism and Speech Delay: Application of Comprehensive Family-Based Whole-Genome Analysis. Genes (Basel). 2025; 16(2).

BACKGROUND: Intellectual developmental disorder with autism and speech delay (IDDAS) is a rare and complex neurological disorder characterized by the presence of both intellectual and speech impairment and features of autism spectrum disorder (ASD). The prevalence of IDDAS is unknown but genetically, it is caused by heterozygous variants in the TBR1 gene. METHODS: A 7-year-old female with autistic features and delayed speech development was presented with unaffected parents. Trio-joint analysis was conducted on whole-genome sequencing (WGS) data from the proband and unaffected parents. A phenotype-driven analysis was conducted to investigate variants related to the patient’s clinical presentation. A zygosity-focused analysis was performed to investigate de novo and compound heterozygote variants related to the etiology. RESULTS: The joint-genome analysis identified a novel NM_006593.4(TBR1):c.1303C>T p.Gln435* nonsense variant in the proband. The de novo analysis confirmed the absence of the variant in the parents. No additional causative variants were identified in genes associated with the proband’s phenotype. CONCLUSIONS: This is the first report of the NM_006593.4(TBR1):c.1303C>T variant in a patient with IDDAS. This study presents the clinical features of the patient and highlights details of trio-WGS analysis in the molecular diagnosis of this complex disease. Sharing these details is important, as they contribute to the understanding of the spectrum of this rare syndrome.

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10. Doss RM, Lopez-Ignacio S, Dischler A, Hiatt L, Dashnow H, Breuss MW, Dias CM. Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective. Genes (Basel). 2025; 16(2).

Fragile X, Huntington disease, and myotonic dystrophy type 1 are prototypical examples of human disorders caused by short tandem repeat variation, repetitive nucleotide stretches that are highly mutable both in the germline and somatic tissue. As short tandem repeats are unstable, they can expand, contract, and acquire and lose epigenetic marks in somatic tissue. This means within an individual, the genotype and epigenetic state at these loci can vary considerably from cell to cell. This somatic mosaicism may play a key role in clinical pathogenesis, and yet, our understanding of mosaicism in driving clinical phenotypes in short tandem repeat disorders is only just emerging. This review focuses on these three relatively well-studied examples where, given the advent of new technologies and bioinformatic approaches, a critical role for mosaicism is coming into focus both with respect to cellular physiology and clinical phenotypes.

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11. Filho CC, Melfior L, Ramos SL, Pizi MSO, Taruhn LF, Muller ME, Nunes TK, Schmitt LO, Gaspar JM, de Oliveira MA, Tassinari G, Cruz L, Latini A. Tetrahydrobiopterin and Autism Spectrum Disorder: A Systematic Review of a Promising Therapeutic Pathway. Brain Sci. 2025; 15(2).

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent deficits in social communication and interaction, along with restricted and repetitive patterns of behavior, interests, or activities. ASD encompasses a wide spectrum of clinical presentations and functional impairments, ranging from mild to severe. Despite its prevalence, the underlying physiopathological mechanisms of ASD remain largely unknown, resulting in a lack of effective targeted therapeutic interventions, contributing to significant financial and emotional burdens on affected families and the healthcare system. Emerging evidence suggests that dysfunction in the tetrahydrobiopterin (BH4) pathway may impair the activity of monoaminergic and nitric oxide (NO)-dependent neurons in individuals with ASD. To explore this potential mechanism, we conducted a systematic review to analyze such impairments to gather information on whether the off-label use of BH4 could represent a novel pharmacological approach for managing ASD. Following the PRISMA 2020 guidelines, we systematically reviewed the literature from four databases: PubMed, Virtual Health Library, Cochrane Library, and SciELO, from January 1967 to December 2021. The quality of the included studies was assessed using the Newcastle-Ottawa scale. The inclusion criteria for this systematic review focused on identifying articles published in English that contained the following keywords, used in various combinations: autism, ASD, autism spectrum disorder, BH4, tetrahydrobiopterin, neopterin, NO, nitric oxide. The analysis was performed between December 2020 and December 2021. The collected data demonstrated that BH4 metabolism was altered in individuals with ASD. Lower levels of BH4 were reported in biological samples from ASD-affected individuals compared to age- and sex-matched controls. Additionally, neopterin levels were elevated in plasma and urine, but decreased in cerebrospinal fluid, while nitric oxide levels were consistently reported to be higher across studies. Treatment with BH4 has shown potential in improving ASD-related symptoms. The reported increase in neopterin in biological fluids indicates inflammation, while the reduction in BH4 levels suggests a potential shift in its metabolic role. Specifically, BH4 may be diverted from its primary role in neurotransmitter synthesis to function as an antioxidant or to perpetuate inflammation through NO production. Given that BH4 is a critical cofactor in monoaminergic neurotransmission, its dysfunction highlights the molecule’s therapeutic potential. BH4, already FDA-approved for other conditions, emerges as a promising off-label candidate to alleviate ASD symptomatology.

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12. Flynn CK, Adams JB, Krajmalnik-Brown R, Khoruts A, Sadowsky MJ, Nirmalkar K, Takyi E, Whiteley P. Review of Elevated Para-Cresol in Autism and Possible Impact on Symptoms. Int J Mol Sci. 2025; 26(4).

Para-cresol (p-cresol), and its primary human metabolite p-cresol sulfate (pCS), are among the most studied gut-derived metabolites relevant to autism spectrum disorder (ASD). P-cresol is produced by bacterial modification of phenylalanine or tyrosine and is one of many potentially deleterious metabolites produced by the gut microbiota. Seventeen studies have observed p-cresol and/or p-cresol sulfate as being higher in the urine of children with autism spectrum disorder (ASD) vs. controls. P-cresol has harmful effects on the body, including within the gut, brain, kidneys, liver, immune system, and mitochondria. Some of these effects may contribute to autism and comorbid symptoms. In the gut, p-cresol acts as an antibiotic, altering the gut microbiome to favor the bacteria that produce it. In the mitochondria, p-cresol disrupts ATP production and increases oxidative stress, which is also common in autism. In the brain, p-cresol impairs neuronal development. P-cresol inactivates dopamine beta-hydroxylase, which converts dopamine to noradrenaline. P-cresol sulfate impairs kidney function and is linked to chronic kidney disease (CKD), which is more common in ASD adults. P-cresol also interferes with immune function. Three animal studies have demonstrated that p-cresol causes autism-related symptoms in mice, and that mice can be recovered by the administration of fecal microbiota transplant from healthy mice. Similarly, it was found that microbiota transplant therapy treatment in children with ASD significantly reduced p-cresol sulfate levels to normal and led to significant improvements in gastrointestinal (GI) and ASD symptoms. In summary, p-cresol and pCS likely contribute to ASD core symptoms in a substantial subset of children with ASD.

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13. Frost KM, Ingersoll B. Theory of Change of Caregiver Coaching for an Early Parent-Mediated Autism Intervention. J Autism Dev Disord. 2025.

The goal of this study was to develop a comprehensive Theory of Change of caregiver coaching processes for an early social communication intervention for young autistic children, with attention to the caregiver learning process and a full constellation of outcomes for the caregiver and family unit. We interviewed intervention experts (n = 10), community providers (n = 22), and caregivers (n = 12) about their knowledge and experiences with a parent-mediated intervention (Project ImPACT), guided by the Theory of Change Framework. Qualitative interviews were transcribed and coded using the Framework Method and causation coding. We developed a comprehensive causal model which describes how both learning and motivational processes contribute to caregivers’ implementation of the intervention, as well as broader outcomes with regard to sustainment, quality of life, advocacy, and goals and expectations. We also identified aspects of service need and contextual fit which inform the broader context for our theory of change. This study identified two mechanistic processes by which caregiver coaching impacts relevant short- and long-term caregiver and family outcomes, informed by practice-based knowledge. In the future, these findings can be used to guide empirical research that directly tests the mechanistic processes underlying effective parent-mediated interventions for young autistic children.

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14. Genovese AC, Butler MG. Systematic Review: Fragile X Syndrome Across the Lifespan with a Focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations. Genes (Basel). 2025; 16(2).

BACKGROUND/OBJECTIVES: Fragile X syndrome (FXS) is one of the most common genetic causes of intellectual developmental disability and autism spectrum disorder (ASD), second only to Down’s syndrome and associated with a broad range of neurodevelopmental, behavioral, and psychiatric challenges. FXS may be present in infants or young children with characteristic dysmorphic features, developmental delays, and behavioral challenges. The diagnosis of FXS is confirmed by the molecular genetic testing of the FMR1 gene encoding fragile X messenger RNA-binding protein (FMRP), involved in regulating the translation of multiple mRNAs which play a key role in neuronal development and synaptic plasticity. Understanding the genetic cause, pathophysiology, and natural history of FXS is crucial for identifying commonly associated comorbidities, instituting effective therapeutic interventions, and improving long-term outcomes. METHODS: This systematic review employed a comprehensive literature search using multiple electronic databases including PubMed, Web of Science, and Scopus with keywords related to fragile X syndrome, lifespan, genetics, neurodevelopmental, behavioral, and psychiatric disorders. RESULTS: FXS is associated with an increased risk for specific neurodevelopmental, or psychiatric disorders. Symptoms and challenges associated with FXS vary based on multiple factors, including genetic differences, age, sex, comorbid conditions, various environmental influences, the availability of support, and opportunities for therapeutic interventions. Knowledge of these associations helps guide caregivers and clinicians in identifying potentially treatable conditions that can help to improve the lives of affected patients and their families. CONCLUSIONS: The focus of this article is to explore and describe the genetic underpinnings of FXS, identify associated developmental, behavioral, and psychiatric conditions over the lifespan, and provide a review of clinical features, therapeutic interventions including investigational treatments, and current research updates.

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15. Hooper SR, Sideris J, Hatton DR, Roberts JR. The Contribution of FMRP to the Development of Speech and Vocabulary in Young Boys with Fragile X Syndrome: A Retrospective Examination. Children (Basel). 2025; 12(2).

BACKGROUND/OBJECTIVES: This study examined the development of speech, expressive vocabulary, and receptive vocabulary in boys with Fragile X Syndrome (FXS), with a focus on the contribution of the Fragile X Messenger Ribonucleoprotein (FMRP), while controlling for the effects of nonverbal IQ, maternal education, and Autism status on the development of these skills. METHODS: Participants included 45 boys with full mutation FXS, ranging in age from 2.9 to 14.0 years, who were subdivided into those with FXS only (FXS-Only) and those with FXS and Autism (FXS-Autism). Speech, expressive vocabulary, and receptive vocabulary skills were assessed over three years for each participant. RESULTS: There was a significant relationship between each of the outcome measures and the child’s nonverbal mental level, and between for both outcome measures of vocabulary and Autism status, but these relationships were moderated by the level of FMRP. Specifically, higher levels of FMRP seemed to increase the relationship between developmental level of speech, receptive, and expressive vocabulary for boys with FXS with and without Autism; however, at lower levels of FMRP, these relationships seemed to weaken significantly for both groups. CONCLUSIONS: These findings implicate increased complexity in the relationship between various contributors to the rates of growth of speech, expressive vocabulary, and receptive vocabulary in boys with FXS, with FMRP being a key variable potentially moderating the relationship between nonverbal abilities, Autism status, and speech and vocabulary development.

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16. Johnson TJ, Vondracek H, Moro T, White CD, Ailey SH. The Societal Cost of Behaviors of Concern Among Individuals with Intellectual and Developmental Disabilities Residing in Small Residential Group Homes. Int J Environ Res Public Health. 2025; 22(2).

Engagement in behaviors of concern (BoCs) by adults with intellectual and developmental disabilities (IDDs) living in small residential group homes can negatively impact the health, safety, and quality of life of the individuals themselves and others living and working in the home. Little is known about the societal cost of BoCs. The objective of this study was to quantify the cost of BoCs for residents, residential group homes, and public and healthcare services in terms of different behaviors. This descriptive study used incident and monthly behavior-tracking reports collected from small residential group homes for six months prior to implementing a social problem-solving intervention aimed at decreasing BoCs. The mean cost per BoC incident per resident was USD 80 ± 601. Health and safety incidents had the highest cost, followed by begging. BoCs impose costs on small residential group homes, public and healthcare services, and residents themselves.

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17. Jung M, Park J. Effects of a Virtual Reality-Based Aggression Control Program on Children with Autism Spectrum Disorder: A Case Study. Children (Basel). 2025; 12(2).

Background/Objectives: Aggression is a major challenge for children with autism spectrum disorder (ASD), their family members, friends, and teachers because it can pose a threat or harm not only to the children with ASD but also to others. This study is a case study aimed at verifying the effectiveness of a virtual reality-based aggression control program for children with ASD. Methods: The participants were two children (one was a 10-year-old boy and the other was a 6-year-old girl) who participated in the ACAA (Aggression Replacement Training for Children and Adolescents with ASD) Program for eight sessions over three weeks. Results: The frequency (C1: 48 → 3; C2: 32 → 3) and severity of aggressive behaviors in both participants decreased after the intervention compared to before. Additionally, overall problematic behaviors were also reduced after the intervention (C1: 85 → 70; C2: 87 → 64). Furthermore, both participants demonstrated a slight increase in their levels of adaptation (C1: 17 → 20; C2: 16 → 18). Conclusions: The effectiveness of the ACAA program has been demonstrated in reducing levels of aggression in children with ASD. Therefore, the ACAA program may contribute to helping aggressive children with ASD live in harmony with others in society and promote independence.

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18. Kovac J, Aleksic B, Krgovic D. Editorial: Multiomics approaches for understanding autism spectrum disorder. Front Neurosci. 2025; 19: 1542260.

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19. Kul E, Santos M, Stork O. Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Int J Mol Sci. 2025; 26(4).

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by moderately expanded CGG trinucleotide repeats in the 5′ untranslated region (UTR) of the FMR1 gene. Characterized by motor deficits such as action tremor and cerebellar gait ataxia, FXTAS is further distinguished by ubiquitin-positive intranuclear inclusions in neurons and glia. However, its clinical spectrum often overlaps with other neurodegenerative conditions such as Parkinson’s disease (PD). Sensorimotor gating deficits, commonly associated with disorders affecting the nigrostriatal pathway such as PD, have been reported in FXTAS, but the underlying connection between these two phenotypes remains undetermined. In this study, we used the P90CGG mouse model of FXTAS, which expresses 90 CGG repeats upon doxycycline induction, to investigate sensorimotor gating deficits and their relationship to nigrostriatal degeneration. After induction, the P90CGG model exhibited late-onset impairments in prepulse inhibition (PPI), a cross-species measure of sensorimotor gating. These deficits coincided with pronounced nigrostriatal degeneration but occurred without evidence of inclusion formation in the substantia nigra. Our findings highlight nigrostriatal degeneration, which has not previously been reported in animal models of FXTAS, and suggest a potential link to sensorimotor gating dysfunction within the context of the disorder.

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20. Kuźniar-Pałka A. The Role of Oxidative Stress in Autism Spectrum Disorder Pathophysiology, Diagnosis and Treatment. Biomedicines. 2025; 13(2).

Autism spectrum disorder (ASD) is a significant health problem with no known single cause. There is a vast number of evidence to suggest that oxidative stress plays an important role in this disorder. The author of this article reviewed the current literature in order to summarise the knowledge on the subject. In this paper, the role of oxidative stress is investigated in the context of its influence on pathogenesis, the use of oxidative stress biomarkers as diagnostic tools and the use of antioxidants in ASD treatment. Given the heterogeneity of ASD aetiology and inadequate treatment approaches, the search for common metabolic traits is essential to find more efficient diagnostic tools and treatment methods. There are increasing data to suggest that oxidative stress is involved in the pathogenesis of ASD, both directly and through its interplay with inflammation and mitochondrial dysfunction. Oxidative stress biomarkers appear to have good potential to be used as diagnostic tools to aid early diagnosis of ASD. The results are most promising for glutathione and its derivatives and also for isoprostanses. Probably, complex dedicated multi-parametric metabolic panels may be used in the future. Antioxidants show good potential in ASD-supportive treatment. In all described fields, the data support the importance of oxidative stress but also a need for further research, especially in the context of sample size and, preferably, with a multicentre approach.

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21. Lazzaro G, Passarini S, Battisti A, Costanzo F, Garone G, Mercier M, D’Aiello B, De Rossi P, Valeri G, Guerrera S, Casula L, Menghini D, Vicari S, Fucà E. Understanding and targeting repetitive behaviors and restricted interests in autism spectrum disorder via high-definition transcranial direct current stimulation: a study-protocol. BMC Psychiatry. 2025; 25(1): 170.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social interaction and repetitive behaviors (RBs). Therapies specifically targeting RBs have been underexplored despite advances in understanding their neurobiological basis. This study aims to evaluate whether high-definition transcranial direct current stimulation (HD-tDCS) can reduce dysfunctional RBs in autistic children and investigate whether improvements differ between lower-order and higher-order RBs based on the brain regions stimulated. METHODS: The study entails a multi-session, sham-controlled, site-controlled, double-blind, and between-subjects design. The study will include participants with an ASD diagnosis (aged 8-13 years; IQ ≥ 70), who will undergo the HD-tDCS intervention for 10 sessions. Participants will be randomly assigned to three conditions: (1) Pre-Motor Active Group (active HD-tDCS over pre-SMA cortex); (2) Frontal Active Group (active HD-tDCS over dlPFC); (3) Placebo Control Group. In the active HD-tDCS conditions, the current will be delivered through a 4 × 1 montage; small circular electrodes will be used with the cathode placed centrally with a current intensity of 0.5 mA for a total of 20 min (30 s ramp up/down) per session. Participants during the sham condition will undergo the same procedures as those in the both active conditions actual placement of electrodes, and turning on the HD-tDCS equipment (30 s). The assessment will be completed at baseline (T0), immediately after the end of the intervention (T1) and 3 months after the end of the intervention (T2). The primary outcome measure will be the Total Score of the Repetitive Behavior Scale-Revised. The secondary outcomes measures will comprise ASD symptoms, sensory processing pattern, emotional/behavioral problems, sleep functioning, parental stress, neuropsychological features and High-Density EEG connectivity. We hypothesize that active HD-tDCS will lead to significant reduction in the total score of the primary outcome compared to Sham Group, with site-specific effects on lower-order and higher-order RBs. DISCUSSION: HD-tDCS is an easy-to-deliver, time-efficient, neurobiologically-driven intervention that could be performed as add-on to reduce the time of conventional therapy for ASD. Given the inherent limitations of specific interventions for RBs, tDCS represents an important « third » treatment arm to address the burden of interventions for ASD. TRIAL REGISTRATION DETAILS: The trial has been registered at ClinicalTrials.gov (ID: NCT06645587). Registered 17 October 2024.

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22. Liao CY, Chan YY. Telepractice Delivery of Caregiver Coaching for Parents of School-Aged Children with Autism Spectrum Disorder in Taiwan: A Pilot Study. Behav Sci (Basel). 2025; 15(2).

Parental involvement is essential in interventions aimed at enhancing communication outcomes for children with autism spectrum disorder (ASD). Research has shown that parents can effectively implement evidence-based strategies following professional coaching. However, there is a notable gap in research on the procedures of parent coaching provided to families of children with ASD in Taiwan. This study aims to evaluate a protocol for distance-delivered parent coaching focused on the implementation of evidence-based strategies for parents of children with ASD. This study employed a multiple-probe design across participants to assess both parent implementation of intervention strategies and the communication outcomes of the children involved. The results demonstrated that the online parent coaching program effectively increased parents’ use of evidence-based intervention strategies, which corresponded to measurable improvements in the target communication behaviors of children with ASD. Also, this study highlighted potential challenges, such as the influence of children’s challenging behaviors on the intensity and effectiveness of parent coaching. These findings contribute to the clinical significance of distance caregiver coaching as a possible approach to supporting families of children with ASD, particularly in underserved areas. The necessity of tailoring service intensity and incorporating culturally responsive practices for the diverse needs of families of children with ASD and effective intervention implementation is discussed in this study.

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23. Lv T, Wang M, Kui L, Wu J, Xiao Y. Novel Inflammatory Biomarkers for Autism Spectrum Disorder Detected by Plasma Olink Proteomics. Children (Basel). 2025; 12(2).

Background: Research evidence has recently shown an association between autism spectrum disorder (ASD) and inflammation. For example, the expression of inflammatory cytokines is abnormal in children with ASD, and maternal inflammation can lead to ASD-like behavior in offspring. These studies suggest that inflammation plays an important role in the occurrence and development of ASD. Inflammatory cytokines may, therefore, be potential biomarkers for ASD. In the present study, we sought to systematically identify inflammatory biomarkers of children with ASD. Methods: We used Olink proteomics to comprehensively examine differentially expressed inflammation-related proteins in 60 children with ASD and 28 children with typical development (TD). We validated our findings using published data. Results: A total of 18 inflammation-related proteins were differentially expressed between the ASD and TD groups. Compared with the TD group, the expression of all differentially expressed proteins was up-regulated in the ASD group. Furthermore, eight differentially expressed proteins showed good diagnostic efficacy, as delineated by area under the curve (AUC) values of > 0.7. To our knowledge, this is the first time that up-regulated interleukin-17C (IL-17C), chemokine ligand (CCL)-19, and CCL20 have been detected in the plasma of children with ASD (with AUC of 0.839, 0.763, and 0.756, respectively). We also found that there was a negative correlation between inflammatory cytokines and SRS scores. Conclusions: Multiple inflammatory markers were increased in children with ASD. IL-17C, CCL19, and CCL20 exhibit potential as biomarker candidates for ASD. Elevated expression levels of cytokines may enhance social ability in ASD.

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24. Martelli ME, Gigliotti F, Giovannone F, Lentini G, Manti F, Sogos C. Developmental Patterns in Autism and Other Neurodevelopmental Disorders in Preschool Children. Children (Basel). 2025; 12(2).

BACKGROUND: Neurodevelopmental disorders (NDDs) encompass an inclusive group of conditions that appear during the developmental period but continue to persist in adulthood, ranging from particular difficulties to a global impairment of social, cognitive, and emotional functioning. The developmental trajectories associated with these conditions are highly heterogeneous. This study aimed to analyze and compare developmental and adaptive profiles of preschool-aged children with different NDDs to better characterize their developmental trajectories. METHODS: We analyzed data from the initial global evaluation of 196 children with NDDs (aged 20 to 71 months), enrolled in three subgroups: 108 with autism spectrum disorder (ASD), 52 with language disorder (LD), and 36 with mixed specific developmental disorder (MSDD). A comprehensive neuropsychiatric evaluation was performed using standardized tools (Griffiths-III, ADOS-2, VABS-II, and ADI-R), and the parents completed the DP-3 and the CBCL 1½-5. RESULTS: Our results showed that all NDDs exhibited poor psychomotor skills, with children with ASD being the most impaired, although their profiles were comparable to those of MSDD in communication and motor areas. CBCL’s pervasive developmental problem scale has been shown to provide relevant information for distinguishing children with ASD. Furthermore, DP-3 and VABS-II measure highly differentiated developmental profiles of each diagnostic group. CONCLUSIONS: Our results highlighted the importance of including parents’/caregivers’ perspectives in defining children’s functioning and the possibility of using DP-3 as a screening tool for different neurodevelopmental disorders.

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25. Moraleda-Sepulveda E, Pulido-García N, Loro-Vicente N, Santos-Muriel N. Effectiveness of Intensive Linguistic Intervention in Autism Spectrum Disorder: A Case Study. Children (Basel). 2025; 12(2).

Background: Autism Spectrum Disorder (ASD) is currently classified as a neurodevelopmental disorder with increasing prevalence year by year. One of the key characteristics of this population is the persistent and variable difficulty they present in the development of functional language. For this reason, most individuals with ASD are candidates for linguistic treatment, especially during the early stages of development. The aim of this study was to assess the effectiveness of an individualized and intensive oral language and communication intervention. Method: This research was conducted through a case study of a 5-year-old Spanish-speaking child diagnosed with ASD. The child’s family sought intensive speech therapy to address articulation difficulties that were affecting speech intelligibility. However, a linguistic intervention program was proposed that would cover work in all areas of language. A comprehensive assessment of the child’s language and communication skills was carried out by a team of five professionals. Following this, an individualized intervention was implemented for 27 h per week over a period of 4 weeks. After this period, the child’s linguistic skills were reassessed. Results: The results show that the proposed intervention not only improved articulation skills. Conclusion: It is important to conduct a detailed analysis of each case and design individualized interventions that directly impact the effectiveness of treatments.

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26. Moreno RJ, Azzam YW, Eng S, Rose D, Ashwood P. Altered Monocyte Populations and Activation Marker Expression in Children with Autism and Co-Occurring Gastrointestinal Symptoms. Biomolecules. 2025; 15(2).

Autism spectrum disorder (ASD) is an early-onset neurodevelopmental condition that now impacts 1 in 36 children in the United States and is characterized by deficits in social communication, repetitive behaviors, and restricted interests. Children with ASD also frequently experience co-morbidities including anxiety and ADHD, and up to 80% experience gastrointestinal (GI) symptoms such as constipation, diarrhea, and/or abdominal pain. Systemic immune activation and dysregulation, including increased pro-inflammatory cytokines, are frequently observed in ASD. Evidence has shown that the innate immune system may be impacted in ASD, as altered monocyte gene expression profiles and cytokine responses to pattern recognition ligands have been observed compared to typically developing (TD) children. In humans, circulating monocytes are often categorized into three subpopulations-classical, transitional (or « intermediate »), and nonclassical monocytes, which can vary in functions, including archetypal inflammatory and/or reparative functions, as well as their effector locations. The potential for monocytes to contribute to immune dysregulation in ASD and its comorbidities has so far not been extensively studied. This study aims to determine whether these monocyte subsets differ in frequency in children with ASD and if the presence of GI symptoms alters subset distribution, as has been seen for T cell subsets. Whole blood from ASD children with (ASD(+)GI(+)) and without gastrointestinal symptoms (ASD(+)GI(-)) and their TD counterparts was collected from children enrolled in the Childhood Autism Risk from Genetics and Environment (CHARGE) study. Peripheral blood mononuclear cells were isolated and stained for commonly used subset identifiers CD14 and CD16 as well as activation state markers CCR2, HLA-DR, PD-1, and PD-L1 for flow cytometry analysis. We identified changes in monocyte subpopulations and their expression of surface markers in children with ASD compared to TD children. These differences in ASD appear to be dependent on the presence or absence of GI symptoms. We found that the ASD(+)GI(+) group have a different monocyte composition, evident in their classical, transitional, and nonclassical populations, compared to the ASD(+)GI(-) and TD groups. Both the ASD(+)GI(+) and ASD(+)GI(-) groups exhibited greater frequencies of classical monocytes compared to the TD group. However, the ASD(+)GI(+) group demonstrated lower frequencies of transitional and nonclassical monocytes than their ASD(+)GI(-) and TD counterparts. CCR2(+) classical monocyte frequencies were highest in the ASD(+)GI(-) group. HLA-DR(+) classical, transitional, and nonclassical monocytes were statistically comparable between groups, however, HLA-DR(-) nonclassical monocyte frequencies were lower in both ASD groups compared to TD. The frequency of classical monocytes displaying exhaustion markers PD-1 and PD-L1 were increased in the ASD(+)GI(+) group compared to ASD(+)GI(-) and TD, suggesting potentially impaired ability for clearance of foreign pathogens or debris, typically associated with worsened inflammation. Taken together, the findings of differential proportions of the monocyte subpopulations and altered surface markers may explain some of the characteristics of immune dysregulation, such as in the gastrointestinal tract, observed in ASD.

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27. Moser C, Burke MM, DaWalt LS, Taylor JL. The Role of Parent Advocacy in Autistic Youths’ Self-Determination. Am J Intellect Dev Disabil. 2025; 130(2): 116-30.

Parent advocacy is important for the transition outcomes of autistic youth. However, it is unclear whether parent advocacy efforts support or stifle youths’ self-determination. This study examined concurrent (n = 180) and longitudinal (n = 134) associations between parent advocacy and transition-aged autistic youths’ self-determination (as reported by parents) and explored whether individual and family characteristics moderated this relationship. Cross-sectional results indicated a positive association between parent advocacy and self-determination for youth with higher adaptive behavior, lower externalizing behavior, and higher parent-child relationship quality. Longitudinal results demonstrated that change in parent advocacy related to change in self-determination for youth with lower adaptive behavior and higher externalizing behavior. Findings suggest that targeting parent advocacy could enhance self-determination skills in autistic youth.

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28. Nagar Shimoni H, Zilbershot Fink E, Leitner Y. The Clinical Phenotype of Early Selective Mutism and Later Autism Spectrum Disorder in Girls: A Case Series Analysis. Children (Basel). 2025; 12(2).

Background: The presentation of autism spectrum disorder (ASD) in girls often differs from that of boys, leading to delayed diagnosis. Selective mutism presenting at a young age can obscure autism symptoms, particularly in girls who exhibit « masking » behaviors. In this study, we examined the early manifestation of selective mutism in four girls who were later diagnosed with ASD. Method: The study describes four case studies of girls who underwent an ASD diagnostic process. All were either diagnosed at an early age with selective mutism or had selective mutism suspected as a potential diagnosis during their preschool years. Clinical information was collected through detailed developmental history and clinical evaluations by a multidisciplinary team. Results: All girls were diagnosed at a young age with selective mutism by a child psychiatrist and later with ASD by a multidisciplinary team. They all demonstrated normal-range intelligence. This is in agreement with Muris and Steffenburg asserting that in a certain group of children, an early manifestation of selective mutism may be an early marker of ASD. Conclusions: Special follow-up should be given to girls diagnosed with selective mutism during their preschool years because this could be an early marker for a later ASD diagnosis.

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29. Nieuwhof-Leppink AJ, Maria van de Wetering EH, Bernard Rietman A, Reinders-van Zwam A, Schappin R. Sensory processing in children with functional daytime urinary incontinence: A comparative study with autism spectrum disorder. J Pediatr Urol. 2025.

BACKGROUND: Functional daytime urinary incontinence (DUI) is a frequently occurring condition among children. The etiology of DUI is multifactorial, involving genetic, biological, and psychosocial factors. Autism Spectrum Disorder (ASD) seems related to DUI, as children with ASD have a higher risk of developing DUI. Sensory processing issues are prevalent in children with ASD and may contribute to DUI. OBJECTIVE: This study aims to elucidate the role of sensory processing issues in children with functional daytime urinary incontinence in relation to ASD. METHODS: A cross-sectional study was conducted, including parents of children aged 6-12 years old, categorized into four groups: healthy children, children with DUI-only, children with ASD-only, and children with both DUI and ASD. Parents completed the Dutch version of the Short Sensory Profile (SSP-NL) to compare sensory processing between groups. RESULTS: A total of 225 eligible children participated in this study, with 75 otherwise healthy children, 58 children with DUI-only, 49 with ASD-only, and 43 children with DUI and ASD. Children with DUI-only scored significantly lower compared to their healthy peers in the SSP-NL domains of ‘Low energy/weak’ and the quadrant ‘Low registration’, indicating sensory under-responsivity and potential limitations in multisensory processing. Children diagnosed with ASD had the most sensory processing issues, independent of their DUI status. CONCLUSION: Our study suggests that children with DUI may experience more sensory processing issues than their healthy peers. A better understanding of these issues associated with incontinence may improve urotherapy by taking into account children’s sensory challenges and by teaching them adaptive behavior.

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30. Nogueira-de-Almeida CA, de Araújo LA, da VUF, Contini AA, Nogueira-de-Almeida ME, Martinez EZ, Ferraz IS, Del Ciampo LA, Nogueira-de-Almeida CCJ, Fisberg M. Nutritional Factors and Therapeutic Interventions in Autism Spectrum Disorder: A Narrative Review. Children (Basel). 2025; 12(2).

Objective: To explore recent findings on how nutritional, gastrointestinal, social, and epigenetic factors interact in autism spectrum disorder, highlighting their implications for clinical management and intervention strategies that could improve development and quality of life of affected children. Sources: Studies published from 2000 to 2024 in the PubMed, Web of Science, Scopus, Scielo, Lilacs, and Google Scholar databases were collected. The process for the review adhered to the Search, Appraisal, Synthesis, and Analysis framework. Summary of the findings: Children with autism spectrum disorder have restrictive eating habits and often exhibit food selectivity with either hyper- or hypo-sensory characteristics. This review provides an overview of the literature on diagnosis and intervention strategies for selectivity in autism spectrum disorder, including the involvement of family members in meals, sharing a healthy diet and positive relationship with food, and the importance of exploring visual, olfactory, and tactile experiences of food and introducing new foods through play activities to expand the food repertoire. Modifications in the microbiota and gastrointestinal disorders may also be present in autism spectrum disorder and are presented due to their frequent nutritional repercussions. The medium and long-term implications of food preferences and behavior issues for nutritional status are also discussed, given the tendency for children with autism spectrum disorder to consume low-quality and energy-dense foods, leading to nutritional problems. Conclusions: Children with autism spectrum disorder have feeding difficulties, especially selectivity, gastrointestinal problems, changes in the microbiota and can evolve with micronutrient deficiencies, malnutrition and obesity. This review describes the evidence for possible targets for interventions aiming to improve nutritional health for children with autism spectrum disorder.

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31. O’Shea A, Engelhardt PE. Linguistic Prediction in Autism Spectrum Disorder. Brain Sci. 2025; 15(2).

BACKGROUND: Autism spectrum disorder has been argued to involve impairments in domain-general predictive abilities. There is strong evidence that individuals with ASD have trouble navigating the dynamic world due to an inability to predict the outcomes of particular events. There is also evidence that this is apparent across the diagnostic criteria of ASD and common among correlates of ASD. However, the question remains as to whether this impairment in predictive abilities is domain-specific or domain-general, with little research investigating prediction in linguistic measures. METHODS: The current study investigated whether individuals with ASD showed atypicalities in linguistic prediction using a cloze probability task. In Experiment 1, 33 individuals with ASD were compared to 64 typically developing individuals in an offline cloze task. RESULTS: There was no significant effect of an ASD diagnosis on the cloze probability. However, individuals with higher levels of autistic traits were significantly more likely to produce lower-probability (non-modal) cloze responses. In Experiment 2, 19 individuals with ASD were compared to 22 typically developing individuals in a lab-based cloze task, in which we also measured the reaction times to begin speaking (i.e., voice onset time). The results showed that individuals with ASD had significantly slower reaction times (~200 ms) but, similarly to Experiment 1, did not show differences in the cloze probability of the responses produced. CONCLUSIONS: We conclude that individuals with ASD do show inefficiency in linguistic prediction, as well as indicating which ASD traits most strongly correlate with these inefficiencies.

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32. Olson A, Krall JR, Baranova A, Slavin M. Nutritional Intake and Sensory Processing in School-Aged Children with Autism Spectrum Disorder. Nutrients. 2025; 17(4).

Background: Individuals diagnosed with autism spectrum disorder (ASD) commonly experience sensory processing that differs from general-population norms, and the autistic lived experience of eating includes preferences for routine, and sensory processing difficulty related to scents, tastes, temperatures, and textures of food. Meanwhile, research indicates that nutrients involved in one-carbon metabolism (OCM) may be related to sensory processing. Methods: This study enrolled 33 school-aged children with autism to assess whether OCM nutrient intake is associated with sensory processing. Parents completed two parent-report assessments: the youth and adult food frequency questionnaire (YAFFQ), and a sensory processing tool, Sensory Profile 2 (SP2). Results: Participant data showed generally good nutritional profiles mirroring those of general-population U.S. children. A group-binarized linear regression model showed the following relationships (p < 0.05): vitamin B12 consumption had a negative association with the SP2 Oral and Sensor domain scores. Choline intake had a positive association with the SP2 Avoider domain score. Vitamin B1 showed a positive association with the SP2 Visual domain score. Conclusions: These results support the possible existence of a relationship between sensory symptoms and OCM nutrient consumption levels in school-aged children diagnosed with autism. Future research is needed to confirm and explore the potential for causality.

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33. Opoku M, Mohamed A, Almarzooqi S, Cheikhmous A. The Extent and Predictors of Fathers’ Involvement in the Raising of Children with Autism Spectrum Disorder in the UAE. Int J Environ Res Public Health. 2025; 22(2).

BACKGROUND: Raising children with autism spectrum disorder (ASD) has consistently been found to be challenging for parents. However, available studies have mainly focused on mothers, raising questions about fathers’ involvement in raising children with ASD. Indeed, fathers’ involvement has consistently been reported as fundamental to the development of children with ASD. Thus, it necessitates extensions of Western-dominated literature to novel contexts such as the United Arab Emirates (UAE). The purpose of this study, therefore, was to explore the extent and predictors of fathers’ participation in the nurturance of children living with ASD. METHODS: The survey was completed by 177 fathers raising children with ASD in the UAE and was based on the revised 27-item Fathers’ Involvement in Development and Rehabilitation Scale. The Statistical Package for Social Science was used to compute means and perform a multivariate analysis of variance and hierarchical multiple regression. RESULTS: Fathers’ ratings were high on involvement: attitude, support, and participation in training to assist their children with ASD. Also, support and participation in training significantly contributed to the variance in attitude towards children with ASD. Moreover, the place of residence of participants made a significant contribution to the variance in attitude towards children with ASD. CONCLUSIONS: There is a need for policymakers to capitalize on the gains already made in creating a favorable environment for the development of children with ASD in the UAE. Regular engagement between policymakers and fathers could enhance their engagement in raising their children.

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34. Pal T, Harvey S, Levine AS, Olszewski PK, Klockars A. Neuromolecular Basis of Impaired Conditioned Taste Aversion Acquisition in Valproate-Induced Rat Model of Autism Spectrum Disorder. Genes (Basel). 2025; 16(2).

BACKGROUND/OBJECTIVES: Autism spectrum disorder (ASD), defined by social, behavioral, and cognitive anomalies, is also associated with dysregulated appetite. ASD individuals, often described as « picky eaters », exhibit restricted dietary preferences and a pronounced avoidance of novel foods. This suggests that the perceived safety of specific tastants may be a crucial determinant of dietary acceptance in ASD. Here, we explore the hypothesis that conditioned taste aversion (CTA), a learned avoidance of foods whose intake promotes sickness, is exacerbated in ASD. METHODS: We assessed the magnitude of a lithium chloride (LiCl)-induced CTA in the valproic acid (VPA) rat model of autism versus in healthy control rats. We also examined the effect of a standard 3 mEq LiCl dose on transcript and neuronal activation changes in brain circuits mediating feeding behavior and associative learning. RESULTS: Surprisingly, we found that while 3 mEq LiCl induced CTA in healthy controls, even the 6 mEq dose was ineffective in generating aversion in VPA rats. LiCl at 3 mEq affected c-Fos immunoreactivity in the hypothalamus and amygdala in controls, whereas in VPA rats it did not produce any c-Fos changes. Gene expression analysis of feeding-related genes (AgRP, NPY, OXT) and those involved in regulating stress and anxiety (DOR and MC3R) were differentially regulated in the VPA rats. Interestingly, transcripts for COMT1, AgRP, OXT, and MC3R were downregulated in saline-treated VPA rats compared to saline-treated controls. CONCLUSIONS: We conclude that VPA rats show blunted CTA responsiveness, which is reflected by a differential impact of LiCl on circuits that promote the acquisition of CTA in healthy versus autistic individuals.

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35. Perzolli S, Bertamini G, Venuti P, Bentenuto A. Emotional Availability in Autism Intervention: A Mother-Father Comparative Analysis. Brain Sci. 2025; 15(2).

BACKGROUND/OBJECTIVES: The literature highlights the importance of parental involvement in autism treatment. However, much research has predominantly focused on child outcomes and cognitive dimensions. This study explores the impact of an early intensive intervention with parental involvement, focusing on changes in parents’ affective exchanges. Notably, given the paucity of studies on fathers in the intervention context, this study examines the comparative trajectory of change considering both caregivers. METHODS: Twenty autistic preschoolers were monitored for one year during a parental-based intervention. Child-mother and child-father play interactions were coded with the Emotional Availability Scales at baseline and at 12 months. Repeated measures linear mixed-effect models were employed to investigate time and caregiver effects and their interaction. RESULTS: Results highlighted both similarities and differences in change trajectories between caregivers. Parental sensitivity, structuring, and non-intrusiveness significantly increased for both parents with fathers showing more prominent gains in structuring the interaction while being non-intrusive. Child responsiveness and involvement significantly increased, showing similar trajectories with both caregivers. Children were generally more involved while interacting with their fathers. CONCLUSION: Parent-child interactions with caregivers evolved toward more adaptive exchanges regarding emotional availability for children’s and parents’ dimensions. Fathers appeared to be particularly receptive regarding acquiring structuring abilities and non-intrusive behaviors. Our results underscore the importance of investigating parental features as well as the importance of actively involving caregivers to support distal outcomes and generalization.

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36. Qureshi AY, Nielsen JA, Sepulcre J. Differential links in 16p11.2 deletion carriers reveal aberrant connections between large-scale networks. Cereb Cortex. 2025; 35(2).

Qualitatively different topographical patterns of connections are thought to underlie individual differences in thought and behavior, particularly at heteromodal association areas. As such, we hypothesized that connections unique to 16p11.2 deletion carriers compared to controls, rather than hyper- or hypo-connectivity, would serve as a better model to explain the cognitive and behavioral changes observed in individuals carrying this autism-risk copy number variation. Using a spatially-unbiased, data-driven approach we found that differential links clustered non-uniformly across the cortex-particularly at the superior temporal gyrus and sulcus, posterior insula, cingulate sulcus, and inferior parietal lobule bilaterally. At these hotspots, altered local connectivity that spanned across the borders of cortical large-scale networks coincided with aberrant distant interconnectivity between large-scale networks. This was most evident between the auditory and the dorsomedial default (DNb) networks-such that greater between-network interconnectivity was associated with greater communication and social impairment. Entangled connectivity between large-scale networks may preclude each network from having the necessary fidelity to operate properly, particularly when the 2 networks have opposing organization principles-namely, local specialization (segregation) versus global coherency (integration).

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37. Sánchez Amate JJ, Luque de la Rosa A. Transformation of the Mental Health of the Autism Spectrum Community: Contemporary Challenges in the Post-Pandemic Era. Brain Sci. 2025; 15(2).

Background: The COVID-19 pandemic represented a disruptive global event that significantly impacted mental health, posing specific challenges for vulnerable groups such as individuals with Autism Spectrum Disorder (ASD). This group faced particular difficulties due to disrupted routines, limited access to therapies, and social isolation. This study examines the changes in mental health among individuals with ASD during and after the pandemic, highlighting contemporary challenges and the mitigation strategies implemented. Methods: A narrative review was conducted. The search was performed in scientific databases such as PubMed, Scopus, Web of Science, PsycINFO, Teseo, Dialnet, and Google Scholar using key terms such as « ASD », « mental health », and « pandemic ». Studies published between 2020 and 2024 addressing the impact of COVID-19 on factors such as anxiety, depression, and stress, as well as therapeutic interventions, were selected. Results: Fifteen relevant studies were identified. The findings showed significant increases in the levels of anxiety and depression among individuals with ASD, which were primarily attributable to disrupted routines and social isolation. However, noteworthy innovations in virtual interventions were reported, demonstrating significant potential to mitigate the adverse effects of the pandemic. Conclusions: The pandemic exacerbated preexisting challenges in the mental health of individuals with ASD, revealing structural vulnerabilities in access to therapy and emotional regulation. Nevertheless, it spurred innovations in virtual interventions that could transform support for this group in the future. This analysis underscores the importance of implementing inclusive, sustainable, and adaptive policies to improve the quality of life of individuals with ASD, particularly in the context of global crises.

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38. Shi Q, Wu L, Ren B, Guo K, Jiang YH, Zhang YQ, Hu L. Impaired tactile processing in autism-associated Shank3 mutant dogs: neural mechanism and intervention. Sci Bull (Beijing). 2025; 70(4): 483-7.

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39. Shoesmith E, Stevens H, Gibsone S, Miles C, Beal H, Jennings K, Ratschen E. Supporting Families to ‘Make the Most’ of the Relationship Between Their Companion Dogs and Their Children with Autism Spectrum Condition: A Qualitative Exploration of the ‘Family Dog Service’. Behav Sci (Basel). 2025; 15(2).

Evidence suggests that assistance and therapy dogs can positively impact the mental and physical health of children with autism spectrum condition (ASC) and their families. However, these services are often costly and inaccessible. As an alternative, companion dogs (e.g., non-specialist-trained pet dogs) may offer similar benefits. To support families in selecting and training a dog to benefit the whole family, a charity named Dogs for Good has designed the Family Dog Service. This qualitative study aimed to explore the perceived impact of human-dog interactions and relationships for children with ASC and their families, and their perceptions of the Family Dog Service. Interviews were conducted with 16 parents of children with ASC who had engaged with the service within the last five years. Thematic analysis identified four main themes. These related to the positive impact of the companion dog on the child with ASC (e.g., enhanced focus and attention, reduction in loneliness, and reduced anxiety-based behaviours) and the parents (e.g., increased respite and wellbeing). However, parents also reported challenges of dog ownership (e.g., adjustment to routines and barriers associated with the development of the human-dog relationship). These challenges appeared to be mitigated by tailored guidance and support from the Family Dog Service. The findings indicate that companion dog ownership provided benefits to children with ASC and their families, similar to those reported for autism assistance dogs. While the findings do not suggest that companion dogs can replace the important role played by specialist trained assistance dogs, it is possible that reported benefits may occur due to the development of the human-dog relationship, facilitated by the support offered by the Family Dog Service. The service may provide a practical, valuable alternative in light of restrictions and challenges often associated with securing assistance dog placements.

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40. Shrestha A, Parajuli B, Pandit A. Case Report of 49,XXXXY Syndrome: A Rare Variation of Klinefelter Syndrome With Seizure Disorder and ASD. Clin Case Rep. 2025; 13(3): e70257.

This case report presents a rare occurrence of 49,XXXXY syndrome in a 14-month-old male, the first documented case from Nepal, highlighting several distinctive clinical features. The patient had a height and weight below the third centile at birth and exhibited dysmorphic facial features, including a flat facial profile, flat nasal bridge, broad nose, low-set ears, and clinodactyly, along with genital anomalies like micropenis and small testes. Neurologically, he demonstrated generalized hypotonia and global developmental delay. Atrial septal defect (ASD), left to right shunt, and mild tricuspid regurgitation were identified via echocardiography, adding to the complexity of the clinical presentation. Cytogenetic analysis of peripheral blood confirmed the 49,XXXXY karyotype in all 30 cells analyzed. The child also presented with a seizure episode at 11 months, a relatively uncommon manifestation in 49,XXXXY syndrome, which required symptomatic management. Neuroimaging revealed multiple abnormalities: A contrast-enhanced computed tomography scan of the head showed mild hydrocephalus, while magnetic resonance imaging (MRI) findings included mild restricted diffusion in the bilateral frontal and parietal subcortical white matter, white matter volume loss around the lateral ventricles, and previously unreported anomalies, such as aplasia of the frontal and sphenoid paranasal sinuses and aplasia of the left transverse and sigmoid dural venous sinuses. These findings emphasize the need to recognize 49,XXXXY syndrome as a separate clinical entity from Klinefelter syndrome due to its unique features and severe cognitive and physical impairments. This case underscores the importance of comprehensive genetic evaluation and individualized, multidisciplinary management strategies for patients with rare chromosomal abnormalities. Further research is warranted to better understand the syndrome’s unique clinical presentations and develop optimal therapeutic interventions.

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41. Song W, Salzer MS, Steinberg HR, Shea LL. Gender Differences in Self-Reported Social Participation in Adults With Autism. Am J Intellect Dev Disabil. 2025; 130(2): 81-7.

There is a lack of research on gender differences in adults’ with autism participation in social activities (i.e., activities that provide interactions with others in the community). Using a large statewide sample (N = 775, 217 females and 558 males), we examined gender differences in the social participation of adults with autism while considering the presence of an intellectual disability (ID). No gender differences were found in total participation days. However, women with autism without ID reported participating in lower percentages of social activities that were important to them and perceiving sufficient participation in lower percentages of these important social activities than their male counterparts. They also reported lower satisfaction with participation level (i.e., perceived sufficiency in participation in important social activities) in social activities that were important to them than women with autism with ID. Implications of findings for understanding gender differences in autism across the life course are discussed.

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42. Spoto G, Butera A, Albertini ML, Consoli C, Ceraolo G, Nicotera AG, Rosa GD. The Ambiguous Role of Growth Factors in Autism: What Do We Really Know?. Int J Mol Sci. 2025; 26(4).

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with multifactorial origins, including the potential involvement of neurotrophins and growth factors. These molecules, which are crucial for neuronal survival, synaptic plasticity, and brain development, have been implicated in ASD pathophysiology. Altered levels of neurotrophins such as NGF, BDNF, NT3, and NT4, as well as growth factors like IGF1, VEGF, and FGF, have been associated with cognitive deficits, sensory processing abnormalities, and behavioral issues in ASD patients. However, the literature presents conflicting results, often due to differences in research methodologies, sample sizes, patient populations, and diagnostic criteria. Despite these inconsistencies, the potential of neurotrophins and growth factors as biomarkers and therapeutic targets for ASD remains promising. Future research with standardized methodologies, larger cohorts, and a clearer understanding of genetic influences is needed to further elucidate their roles in ASD diagnosis and treatment.

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43. Vital BSB, Santos K, Araújo A, Brazorotto JS, Jacob RTS, Taveira KVM, Balen SA. Remote microphone systems in children and adolescents with autism spectrum disorders: a scoping review. Codas. 2025; 37(2): e20230310.

PURPOSE: To map the literature on the use of the Remote Microphone System (RMS) in children and adolescents with Autism Spectrum Disorder (ASD). METHODS: Scoping Review following the Joanna Briggs Institute recommendations and PRISMA-ScR checklist. Search was carried out in the databases: PubMed, Embase, Scopus, Web of Science, Lilacs, and gray literature, including Google Scholar and ProQuest, as well as reference lists of included studies and expert consultations. Intervention studies with children and adolescents with ASD using RMS were included, without gender, language, age, publication time, ethnicity, or geographical location restrictions. RESULTS: 709 studies were identified in phase 1. After reviewing 14 full texts with eligibility, eight studies were eligible. Studies were heterogeneous in the RMS model (personal or free field), applied tests, intervention period, and location. Improvement in speech perception, social interaction, behavior, attention, auditory memory, noise tolerance, stress reduction, and modification in neural activity through electrophysiological evaluation were observed. CONCLUSION: Using RMS demonstrated benefits in speech perception, social interaction, and behavior in adolescents and children with ASD. Further studies are needed to define protocols and indication parameters in this population.

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44. Wang J, Zhang J, Li J, Gao Q, Chen J, Jia C, Gu X. Cortex-Specific Tmem169 Deficiency Induces Defects in Cortical Neuron Development and Autism-Like Behaviors in Mice. J Neurosci. 2025; 45(9).

The development of the nervous system is a complex process, with many challenging scientific questions yet to be resolved. Disruptions in brain development are strongly associated with neurodevelopmental disorders, such as intellectual disability and autism. While the genetic basis of autism is well established, the precise pathological mechanisms remain unclear. Variations on chromosome 2q have been linked to autism, yet the specific genes responsible for the disorder have not been identified. This study investigates the role of the transmembrane protein 169 (TMEM169) gene, located on human chromosome 2q35, which has not been previously characterized. Our findings indicate that Tmem169 is highly expressed in the nervous system, and its deletion in the male mouse dorsal forebrain results in neuronal morphological abnormalities and synaptic dysfunction. Notably, Tmem169-deficient mice, irrespective of sex, display behavioral traits resembling those observed in individuals with autism. These results suggest that Tmem169 interacts with several key neuronal proteins, many of which are implicated in neurodevelopmental diseases. Furthermore, we demonstrate that Tmem169 promotes neuronal process and synapse development through its interaction with Shank3.

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