Pubmed (TSA) du 16/01/26
1. Aljubour AA, Abdelbaki M, El Meligy O, Jabri BA, Bashkail FB, Alamoudi RM, Sabbagh HJ. The effect of culturally adapted oral hygiene dental visual aids on plaque removal in autistic children: A randomized clinical trial. Res Dev Disabil;2026 (Jan 15);169:105212.
BACKGROUND: Culturally tailored visual aids are a vital educational resource for facilitating skill acquisition in children with Autism Spectrum Disorder (ASD). This study evaluates the effectiveness of a culturally adapted dental visual aid, developed by Aljubour, in enhancing the oral hygiene of children with ASD over a six-month follow-up period. METHODOLOGY: A longitudinal, blinded, randomized, and controlled clinical trial was conducted over six months. Participants were allocated into two groups: Group I received the Aljubour culturally adapted dental visual aids, while Group II received conventional dental visual aids. Oral hygiene status was assessed using the Silness and Löe plaque index. RESULTS: Although the reduction in mean plaque index following six months of using the culturally adapted visual aids was not statistically significant (P = 0.120), a significant difference was observed between the two study groups (P = 0.002). CONCLUSION: The findings indicate that children with ASD who utilized the Aljubour culturally adapted dental visual aids demonstrated a significant improvement in oral hygiene status compared to those who used conventional dental visual aids after a six-month evaluation period.
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2. AlMuraikhi M, Azeem MW, Malik S, Nazeer A. Recognizing autism in vulnerable populations: an equity lens and guidance. Curr Opin Psychiatry;2026 (Jan 6)
PURPOSE OF REVIEW: Early autism diagnosis is especially difficult when developmental history or caregiver input is unavailable (e.g., displaced, institutionalized, or orphaned children). We synthesize observation-first, clinician-led approaches and regulated, technology-enabled aids that minimize reliance on collateral history. RECENT FINDINGS: Standardized direct observation (e.g., ADOS-2 modules that do not require a caregiver) can support diagnosis when history is limited, but feasibility hinges on training, cultural adaptation, and service capacity. Many legacy instruments predate DSM-5/DSM-5-TR, creating construct gaps. Recently cleared aids, an eye-tracking system for toddlers, and a software tool combining short videos, caregiver input, and clinician ratings, function as decision support rather than stand-alone diagnostics. Mobile and remote screening paradigms show promise but require independent, cross-cultural validation. SUMMARY: Diagnostic equity necessitates pathways that are effective when medical histories are incomplete. We outline a minimum dataset and a pragmatic workflow that replace caregiver reports with structured observations, school/residential collateral, and carefully integrated objective measures, under clinician synthesis. Priorities include updating legacy instruments, publishing brief observational batteries with known accuracy bounds, and validating tools across languages and contexts.
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3. Carver AJ, Fairbairn FM, Taylor RJ, Hing BWQ, Gajmer A, Fair RT, Stevens HE. Placental Insulin-like Growth Factor 1 Deficiency Drives Autism-Relevant Behavioral Changes with Sex-Specific Vulnerabilities. bioRxiv;2026 (Jan 6)
BACKGROUND: Preterm birth and other perinatal adversities lead to the loss of placental support including critical hormones, such as insulin-like growth factor 1 (IGF1), required for neurodevelopment. Decreased IGF1 and preterm birth are associated with neurodevelopmental disorder risk, including autism spectrum disorder. Whether placental Igf1 insufficiency drives neurodevelopmental risks is not understood. METHODS: To understand these mechanisms, placental-targeted CRISPR manipulation in mice was employed to create placental Igf1 insufficiency. Subsequently, embryonic forebrain development was assessed sex-specifically to identify structural and transcriptomic changes. Postnatal offspring were used to determine neurobehavioral trajectories relevant to neurodevelopmental disorders as assessed through learning, motor, and affective behavioral tasks and neurostereology. RESULTS: Placental Igf1 insufficiency reduced embryonic forebrain growth, including decreased cell population across males and females. Embryonic forebrain transcriptomics revealed sex-specific alterations. Autism relevant developmental pathways were downregulated in male forebrain, driven by genes including Reln and Lama1 . Altered genes in female forebrain were enriched for autism-risk genes including Grin2b and Dync1h1 . Following these transcriptomic differences, postnatal neurobehavioral trajectories were sex specific. Male offspring uniquely showed reduced motor learning, increased stereotyped behaviors, altered reversal learning, and reduced forebrain neuronal number. Female offspring displayed opposite behavioral changes as males and few changes in forebrain structure. CONCLUSIONS: The provision of Igf1 specifically from placenta is critical for offspring forebrain development. This temporary early deficit has persistent sex-specific neurobehavioral effects. These outcomes have relevance for autism risk and highlight mechanisms that could facilitate intervention development for adverse outcomes after early loss of placental hormone support in perinatal adversity.
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4. Dey S, Das A. Genetics of Autism Spectrum Disorder underscores the role of altered spontaneous neuronal activity as a catalyst for the neurodevelopmental anomalies. Brain Res;2026 (Jan 13):150164.
Autism Spectrum Disorder (ASD) represents a diverse set of neurodevelopmental disorders diagnosed in children exhibiting common behavioral impairments in social communication and excessive repetitive behaviors. Genetic approaches and large-scale genomic studies have uncovered hundreds of ASD-associated genes with diverse molecular functions contributing in various biochemical and physiological pathways. Despite the underlying genetic diversity, the convergence of phenotypic features suggests the disruption in shared neurobiological mechanisms contributing to ASD. Spontaneous neuronal activity (SNA), the stimulus-independent firing of neurons, which is observed even during neuronal development, has been known to be crucial for neural circuit maturation. Functional neuroimaging studies have demonstrated that SNA is a central process disrupted in ASD patients and mutation-based animal and cellular models. SNA orchestrates critical developmental programs during neuronal maturation such as dendritic arborization, synaptic pruning, excitatory-inhibitory balance, and activity-dependent transcriptional regulation. Perturbations in these dynamics may provide a unifying mechanistic framework linking genetic mutations to abnormal circuit formation and behavioral anomalies. In this review, we collate the genetic and genomic studies to evaluate the contribution of ASD genes in regulating the spontaneous firing of neurons. We classify ASD genes into generators, sensors, transducers, and responders of activity-induced signals and discuss their roles in regulating membrane excitability, transducing the signal to cytoplasmic or nuclear targets to transform the neuronal gene expression program, eventually impacting neuronal and synaptic development. We attempt to substantiate the contribution of altered SNA as the single major common neurological mediator connecting genetic mutations with the common behavioral irregularities manifested in ASD.
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5. Forte L, Bianco A, Bertelli MO. Instrumental assessment of psychotic disorders in intellectual developmental disorders and autism with cognitive or major communication issues. Curr Opin Psychiatry;2026 (Jan 6)
PURPOSE OF REVIEW: The high comorbidity and complex clinical presentation of psychotic disorders in adults with intellectual developmental disorders (IDDs) and autism spectrum disorder with cognitive or major communication issues (ASD-CMCI) requires highly accurate assessment approaches. This targeted review examines the availability, validity, and clinical utility of existing instruments for this high-risk population, in whom diagnostic procedures are often hindered by communication deficits and diagnostic overshadowing. RECENT FINDINGS: There is a substantial lack of PD-specific assessment tools for this population. Adapted neurotypical scales, including the PANSS and PSYRATS, demonstrate limited validity because they rely heavily on introspective self-report. The primary methodological challenge is distinguishing chronic neurodevelopmental features from acute psychotic change, a process that requires careful observation of objective deviations from the individual’s baseline functioning and behaviour. SUMMARY: This targeted review underscores the need for dedicated, informant-based instruments for PD in IDD/ASD-CMCI. Approaches grounded in behavioural equivalents and systematic evaluation of change from baseline appear essential for reducing diagnostic overshadowing and improving diagnostic accuracy, although further validation of these methods remains necessary.
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6. Greydanus DE, Azeem MW, AlMuraikhi M, Nazeer A. Challenging behaviors in adolescents with intellectual and developmental disabilities: current pharmacological perspectives. Curr Opin Psychiatry;2026 (Jan 6)
PURPOSE OF REVIEW: Adolescents with neurodevelopmental disorders (NDDs) often display challenging behaviors such as hypersexuality, severe irritability, and aggression. This review emphasizes current management strategies, focusing on the evaluation of problematic behaviors and considering both pharmacological and nonpharmacological options, as well as their level of evidence in the current literature. RECENT FINDINGS: Hypersexuality in adolescents with NDDs may result from conditions such as precocious puberty, polycystic ovary syndrome, neurologic disorders, trauma, or medication effects. Management should be etiology-based; limited evidence suggests selective serotonin reuptake inhibitors (SSRIs) and opioid antagonists may help in compulsive sexual behavior, though data in youth remain scarce. Irritability is most consistently improved with atypical antipsychotics, particularly risperidone and aripiprazole. Adjunctive options include NMDA modulators, stimulants, alpha-2 agonists, and anti-inflammatory or nutraceutical agents. Aggression management relies on antipsychotics, with clozapine considered for refractory cases; benzodiazepines, guanfacine, sertraline, and investigational agents such as vafidemstat show early promise. Psychotherapeutic and family-based interventions remain essential. SUMMARY: Effective care requires holistic evaluation, elimination of iatrogenic contributors, and individualized treatment. Combining behavioral therapies with judicious medication use can improve functioning and safety. Emerging pharmacologic and biologic strategies warrant further investigation in this vulnerable population.
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7. Han J, Zhan Y, Guo Y. Comment on « Developmental differences in neural correlates of semantic processing and executive performances between autistic boys and non-autistic boys ». J Formos Med Assoc;2026 (Jan 16)
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8. Holland L, Drummond K, Thomson S, Sominsky L, Marx W, Love C, Dawson SL, Harrison LC, Saffery R, Symeonides C, Tang ML, Burgner D, Sly PD, Vuillermin P, Ponsonby AL, Mansell T, Ranganathan S, O’Hely M. Prenatal and birth factors associated with child autism diagnosis: a birth cohort perspective. Pediatr Res;2026 (Jan 15)
BACKGROUND: Autism spectrum disorder (autism) describes a heterogeneous neurodevelopmental phenotype arising from the interplay of environmental and genetic factors in early life. METHODS: In a general population birth cohort, we employed a scoping approach to identify prospective associations between prenatal and birth factors and a subsequent autism diagnosis. RESULTS: Factors associated with increased likelihood of autism included those related to i) maternal health (maternal pre-pregnancy body mass index, pre-existing maternal mental health conditions, maternal use of selective serotonin reuptake inhibitors) ii) environmental exposures (maternal passive tobacco smoke exposure, and exposure to vinyl floors) iii) demographic factors (socioeconomic disadvantage). Factors associated with a decreased likelihood of autism included maternal dietary nutrition and supplementation (higher folic acid, magnesium, and iron, as well as adherence to the Australian Dietary Guidelines). CONCLUSION: Our findings extend the evidence that autism may have a multifactorial origin in early life. Further studies should explore the composite effects of these prenatal and birth factors on autism outcomes via shared biological pathways, such as inflammation, and oxidative stress, in concert with genetic predisposition. IMPACT: Autism spectrum disorder (autism) is a multifactorial condition. Here we report on multiple prenatal environmental, demographic, maternal and pregnancy factors that are associated with an increased likelihood of an autism diagnosis. For example, adherence to the Australian Dietary Guidelines during pregnancy is linked to a reduced likelihood of autism in the offspring, consistent with mounting evidence that prenatal nutrition impacts brain development. We examine how the multiple risk factors, identified by our comprehensive approach, may be linked to shared biological mechanisms. Future work should examine composite exposure measures acting through shared mechanisms as a more productive approach to understanding aetiology than focusing solely on individual exposures.
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9. Isenstein EL, Lang ER, Freedman EG, Foxe JJ. Atypical somatosensory adaptation in adults on the autism spectrum: a high-density electrophysiological (EEG) mapping study. bioRxiv;2026 (Jan 6)
Adaptation to repetitive sensory inputs promotes efficient neural processing by attenuating responses to redundant information and reallocating resources to novel stimuli. Reduced adaptation has been proposed to contribute to atypical sensory reactivity in autism, but the physiological mechanisms underlying tactile adaptation remain poorly understood. Here, we examined short-term adaptation to repetitive vibrotactile stimulation in autistic and neurotypical adults using high-density electrophysiological recordings. Fifty participants (18-44 years; 25 autistic; 25 neurotypical), received sequences of four brief vibrations to the index fingertip while viewing silent videos. Neural responses were analyzed for an early negative deflection (N1, ∼100 milliseconds) indexing basic stimulus recognition, and a later positive deflection (P2, ∼200-300 milliseconds) indexing higher-order contextual and attentional processing. Adaptation was quantified as changes in response magnitude across the four vibrations. The N1 did not differ between groups, showing minimal change across repetitions, indicating comparable processing of basic tactile features. In contrast, the P2 was significantly larger overall in the autistic group. Across both groups, responses to the first vibration in each sequence were greater than responses to subsequent vibrations, reflecting re-sensitization following the inter-sequence interval. Autistic participants exhibited consistently amplified P2 responses to initial vibrations, suggesting heightened re-sensitization rather than impaired within-sequence adaptation. Associations between neural responses and clinical measures of autistic traits and tactile sensitivity were modest. These findings indicate that autistic adults show amplified higher-order neural responses to tactile input alongside preserved short-term adaptation. Heightened re-sensitization to repeated touch may reflect shortened refractory periods, contributing to sensory hyper-reactivity and increased perceptual load.
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10. Knudsen LV, Vafaee MS, Sheldrick-Michel AJ, Michel TM. Cerebral glucose metabolism: the potential missing link in autism research-a literature review and meta-analytic synthesis. J Neural Transm (Vienna);2026 (Jan 16)
The global prevalence of Autism Spectrum Condition (ASC) is increasing, yet effective supportive interventions remain largely unidentified, highlighting the urgent need to clarify the underlying neuropathophysiology. Neuroimaging offers a pathway toward this understanding; however, most studies rely on indirect measures of neurophysiology, whereas direct approaches such as [(18)F]Fluorodeoxyglucose positron emission tomography (FDG-PET) remain underutilized and lack systematic synthesis in the literature. This review and meta-analysis evaluated FDG-PET research in ASC. A systematic search identified 2,725 records, of which 21 studies compared FDG-PET findings between autistic and neurotypical individuals. Nine met the inclusion criteria for the review, and eight were included in the meta-analysis. The review revealed inconsistent findings, reporting both increased and decreased glucose metabolism in ASC, likely reflecting methodological heterogeneity. The meta-analysis found no statistically significant differences, but indicated a weak non-significant trend toward elevated glucose metabolism in the striatum in autistic compared to neurotypicals individuals (standardized mean difference [SMD] = 0.416; 95% CI - 0.200 to 1.032; p = 0.186). Despite 40 years of FDG-PET research in ASC, the number of studies remains limited, and several exhibit methodological shortcomings. Evidence from FDG-PET studies in other psychiatric and neurological disorders underscores the technique’s potential value in ASC research. The findings of this study further emphasize the urgent need for rigorously designed investigations to clarify the relationship between cerebral glucose metabolism and autism, with the ultimate goal of advancing our understanding of the autistic brain.
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11. Köroğlu AY, Yilmaz Demirel Ö, Kiliç K. The Relationship Between Parenting Attitudes and Participation of Fathers of Children With Developmental Disabilities. J Autism Dev Disord;2026 (Jan 16)
BACKGROUND: In traditional societies, fathers are often viewed as authority figures with limited involvement in child development. This study examined the parenting attitudes and participation levels of fathers of children aged 3-6 with developmental disabilities in Türkiye. METHOD: The sample consisted of 134 fathers who voluntarily participated. Data were collected using a demographic form, the Parental Attitude Scale (PAS), and the Father Involvement Scale (FIS) and analyzed with SPSS. RESULTS AND CONCLUSIONS: Parenting attitudes did not significantly vary by the child’s gender, diagnosis, preschool attendance, or number of children. Non-working fathers showed more authoritarian attitudes than working fathers. Fathers of daughters scored higher on interest and closeness, while fathers in single-child families scored higher on caregiving and participation. A moderate positive relationship was observed between democratic parenting attitudes and FIS subdimensions. Authoritarian and permissive attitudes showed weaker positive relationships with specific FIS subdimensions, including caregiving and participation.
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12. Li B, Le J, Wang Y. A qualitative study on the experience of stigma of family caregivers of children with autism from the perspective of family empowerment. BMC Nurs;2026 (Jan 15);25(1):49.
BACKGROUND: This qualitative study investigates the experiences of stigma among caregivers of children with autism, from the viewpoint of family empowerment. The goal is to offer insights that can inform the development of personalized and effective family intervention strategies. METHODS: We invited fifteen family caregivers of children with autism to participate in semi-structured interviews. After each interview, the dialogue was transcribed verbatim. Subsequently, we analyzed the data according to the principles of thematic analysis. RESULTS: The experiences of caregivers of children with autism can be categorized into four main themes: (1) the challenges faced by family caregivers, (2) the family’s coping mechanisms in response to the child’s autism, (3) the acceptance and personal growth of caregivers of children with autism, and (4) social interactions from the perspective of family empowerment. CONCLUSIONS: Empowering caregivers to support their physical and mental health generates positive energy, while empathetic understanding offers emotional comfort. It is essential to develop individualized rehabilitation plans through collaborative family-based service mechanisms, provide respite services tailored to family needs, and integrate community resources to improve community engagement. Enhancing social support and increasing public awareness will strengthen the rehabilitation service system. Furthermore, by disseminating information through various channels and coordinating efforts across departments to provide comprehensive care throughout the illness, a family-centered collaborative model can be established, ultimately improving the health of both patients and caregivers. CLINICAL TRIAL NUMBER: Not applicable.
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13. Li J, Sujawal M, Bernotaite Z, Cunnings I, Liu F. Semantic Processing in Autism During Speech-in-Music Listening: Insights From Congruency and Surprisal-Based N400 Analyses. Psychophysiology;2026 (Jan);63(1):e70232.
Understanding speech in background music is a common real-world challenge, particularly when vocals compete for linguistic processing resources. This study examined how the presence and intelligibility of sung lyrics influence semantic processing in autistic and nonautistic adults. Twenty-nine participants per group performed a sentence acceptability judgment task while EEG was recorded. Sentences ended with either semantically congruent or incongruent words and were presented alongside instrumental, Simlish (phonologically English-like but unintelligible), or English-lyric versions of the same songs. To examine semantic processing, we analyzed the N400 using two complementary approaches: a categorical congruency contrast, indexing the neural cost of processing semantic anomalies, and a continuous lexical surprisal measure, capturing graded sensitivity to word predictability. In nonautistic participants, both analyses showed largest N400 responses in the instrumental condition, attenuated responses in vocal conditions, and reduced behavioral accuracy as lyrics became more intelligible. Autistic participants showed lower accuracy and a reduced N400 effect relative to nonautistic participants, particularly in the instrumental music condition. In addition, they exhibited no behavioral difference between the English and Simlish vocal conditions, suggesting that changes in lyric intelligibility did not affect accuracy. By combining ecologically valid speech-in-music masking with dual analytic approaches, this study provides the first neurophysiological evidence of these semantic processing differences in autism and demonstrates how integrating categorical and probabilistic measures can yield a richer and more nuanced account of speech processing in complex auditory environments.
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14. Lopez-Espejo M, Nuñez A. Medical comorbidities in autistic children: prevalence, sex-specific clustering, and network patterns at diagnosis in a Chilean cohort. Eur J Pediatr;2026 (Jan 16);185(2):85.
Medical comorbidities are common in autistic children, yet patterns of co-occurrence at diagnosis-particularly in under-researched regions-remain poorly characterized. We examined the prevalence, distribution, temporal trends, and sex-specific clustering of medical comorbidities at ASD diagnosis in a large Chilean cohort. We performed a retrospective chart review of 544 children diagnosed with ASD between 2015 and 2023 at a specialized pediatric neurodevelopmental center. Comorbidities were identified through standardized caregiver interviews, clinical examination, anthropometric assessment, and clinician-verified medical record review. Analyses included prevalence estimates, temporal trends, and sex-stratified exploratory network analysis. At least one comorbidity was present in 90% of children. The most frequent were insomnia (61%), overweight (52%), allergic rhinitis/atopic dermatitis (28%), and constipation (27%). Underweight prevalence declined significantly over time (from 11% to 5%; p = 0.028), whereas other conditions remained stable. Exploratory network analysis showed high connectivity in both sexes, with denser clustering in girls. In boys, insomnia, overweight, constipation, and allergic disorders formed the main cluster; in girls, allergic disorders remained central, while underweight showed more limited connectivity within the network. Demographic characteristics did not differ between children with and without additional medical conditions. CONCLUSION: Medical comorbidities are highly prevalent at the time of ASD diagnosis, with distinct sex-specific co-occurrence patterns that may guide early screening priorities. These findings support systematic, multidisciplinary assessment during the diagnostic process and highlight the need for longitudinal, multicenter studies to validate comorbidity clusters and clarify their developmental trajectories. WHAT IS KNOWN: • Autistic children frequently have medical comorbidities such as sleep, nutritional, gastrointestinal, and allergic disorders. • The prevalence of individual comorbidities is documented, but patterns of co-occurrence at diagnosis-particularly in Latin American cohorts-remain understudied. WHAT IS NEW: • In a large Chilean cohort of autistic children, 90% had ≥1 clinician-verified medical comorbidity at ASD diagnosis. • Sex-stratified exploratory network analysis showed a shared central cluster (insomnia, overweight, constipation, and ARAD), with higher overall connectivity in girls; underweight and epilepsy showed more limited connectivity at diagnosis.
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15. Luo D, Zhao C, Nie L, Yin Y, Liu X, Yu H, Wang F, Chen H, Liu H. Alterations in white matter integrity and asymmetry in children with autism spectrum disorder: an automated fiber quantification tractography study. J Psychiatr Res;2026 (Jan 13);194:312-320.
OBJECTIVE: To investigate microstructural and lateralization abnormalities of white matter (WM) in children with autism spectrum disorder (ASD) using automated fiber quantification tractography, assess their relationship with behavioral symptoms, and analyze developmental trajectories of WM tracts with age. MATERIALS AND METHODS: This study analyzed diffusion tensor imaging data of 36 children with ASD (mean age, 5.44 ± 0.95 years; male:female, 28:8) and 27 healthy controls (mean age, 5.06 ± 1.83 years; male:female, 17:10) using automated fiber quantification. A support vector machine (SVM) classifier was applied to distinguish ASD from healthy controls (HC) based on WM metrics. RESULTS: ASD children exhibited local WM abnormalities, atypical lateralization, and impaired age-related development of WM. The callosum forceps major (CF_major) and left inferior longitudinal fasciculus impairments correlated with social impairments, while CF_major and right thalamic radiation impairments correlated with repetitive behaviors. The cingulum cingulate was atypically lateralized and negatively correlated with the Childhood Autism Rating Scale. SVM classification based on WM metrics achieved 75 % accuracy (AUC = 0.81) in distinguishing ASD from HC. CONCLUSIONS: Children with ASD show subtle microstructural abnormalities, atypical lateralization patterns, and delayed development of WM tracts, correlated with behavioral symptoms. SVM classification supports the discriminative utility of WM metrics as potential ASD biomarkers.
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16. Ma G, Luo Q, Li J, Shi H, Chen Y, Song Y. Story worlds as social armor: Novel reading habits attenuate the autistic-traits to social anxiety pathway. Acta Psychol (Amst);2026 (Jan 16);263:106255.
OBJECTIVE: Autistic traits are common in school-age children and frequently co-occur with social anxiety, which can precipitate behavioral problems. Guided by Social Motivation Theory and the Reading-Empathy framework, we tested whether children’s self-directed novel-reading habits (NRH) buffer the pathway from autistic symptoms to behavioral problems via social anxiety. METHODS: A cross-sectional survey was completed by 1240 pupils aged 8-15 years from mainstream schools in Luzhou, China. Measures included the Childhood Autism Rating Scale, Social Anxiety Scale for Children, Child Behavior Checklist (behavior-problem indices) and a five-item NRH inventory. PROCESS Model 59 with 5000 bootstrap samples estimated a moderated-mediation model, controlling for age, sex and socio-economic status. All instruments displayed adequate internal consistency (Cronbach’s α ≥ 0.82) and procedures complied with institutional ethics approval. RESULTS: Autistic symptoms showed a strong positive association with social anxiety (β = 0.2925, p < 0.001) and, through social anxiety, influenced behavioral problems. Direct effects on behavior remained significant after covariate adjustment. NRH significantly weakened the autistic-symptom→social-anxiety slope; the index of moderated mediation confirmed a buffering effect on the indirect pathway from autistic traits to behavioral problems (IMM = -0.0229, 95% CI [-0.03, -0.01]). CONCLUSION: Consistent with Social Motivation Theory, higher autistic traits elevate children's social anxiety and, indirectly, their behavioral difficulties. Frequent engagement with long-form fiction provides an alternative social-cognitive practice context that dampens anxiety reactivity to autistic traits, thereby reducing downstream behavioral risk. Encouraging immersive, self-chosen novel reading may therefore complement conventional social-skills and emotion-regulation programmes for autistic youth within ordinary classroom literacy practice.
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17. Mahmoudi M, Moore LA, Lundquist J, Stier A, Anderson M, Fayzullobekova B, Hermosillo R, Houghton A, Madison TJ, McCollum R, Weldon KB, Nelson S, Esler A, Miranda-Dominguez O, Fair DA, Tervo-Clemmens B, Feczko E. Cortical Thickness and Curvature in Autism and ADHD: A Mega-Analysis. bioRxiv;2026 (Jan 6)
BACKGROUND: Existing evidence suggests cortical morphometric alterations occur in people with autism and ADHD. However, these findings remain tentative due to small sample sizes, heterogeneous imaging pipelines, varied statistical approaches, and limited harmonization across acquisition sites. Few studies have applied standardized processing to large, clinically enriched datasets or addressed site-related batch effects. METHODS: We leveraged six large-scale brain imaging datasets (n = 9,647; male=5,835; female=3,812; ages 5-64 years), including 1,533 individuals with ADHD, 1,080 with autism spectrum disorder, and 7,034 matched controls. All imaging data were processed using the validated ABCD-HCP pipeline, with cortical parcellation into 360 regions based on the Human Connectome Project (HCP) atlas, and ComBat harmonization was applied to account for variability across 67 acquisition sites. Group-level differences in cortical thickness and sulcal curvature were examined with ANCOVAs, controlling for covariates and using Bonferroni correction for multiple comparisons. RESULTS: Our analyses revealed distinct neuroanatomical signatures for both autism and ADHD. Individuals with autism exhibited regionally thinner cortex and curvature alterations particularly in the Cingulo-Opercular network. In contrast, individuals with ADHD displayed regionally thicker cortex, particularly in the default mode and somatomotor networks, alongside curvature differences. Control participants showed intermediate patterns, suggesting that autism and ADHD may represent diverging extremes of cortical maturation. CONCLUSIONS: Cortical thickness and curvature emerge as potential biomarkers that can advance understanding of neurodevelopmental conditions and disentangle heterogeneity across diagnostic groups. These findings highlight the value of harmonized, large-scale, standardized analyses for resolving inconsistencies in the literature.
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18. Munir KM. Etiology of autism spectrum disorders: recent advances and emerging directions. Curr Opin Psychiatry;2026 (Jan 19)
PURPOSE OF REVIEW: This narrative review synthesizes advances from the past 18 months on the etiology of autism spectrum disorder (ASD), integrating findings from genetics, neurobiology, environmental epidemiology, and developmental psychiatry. Given the profound clinical heterogeneity of ASD, improved etiologic clarity is essential for risk stratification, early identification, and targeted intervention. RECENT FINDINGS: Extensive genomic and multiancestry studies are now further clarifying how both common polygenic and rare high-impact variants contribute to ASD. These studies reveal different patterns of genetic liability that underlie distinct ASD subgroups. In parallel, functional and multiomic research is highlighting shared pathways involving synaptic signaling, gene regulation, immune processes, and the balance between excitatory and inhibitory signals. Environmental research, especially on maternal immune activation and maternal metabolic factors, uses causal inference methods to clarify modest but plausible causal effects, tempering earlier claims. Longitudinal imaging and infant cohort studies continue to show that atypical connectivity and social-brain differences occur before behavioral diagnosis. Sex differences and global diversity underscore the need for etiology models to incorporate sex-specific genetic architecture and address significant gaps in ancestral representation. SUMMARY: ASD arises from a dynamic interplay of genetic liability, early neurodevelopmental processes, and environmental exposures. Etiologic progress now depends on integrating multilevel and multiomic data – including genomic, transcriptomic, epigenetic, imaging, and epidemiologic information – toward stratified developmental models and better-tailored interventions.
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19. Munira MS, Stevens JE, Shahin W, Wang K, Franks AE, Perez ARJ, Scott JW, Hill-Yardin EL. Towards treatments targeting the gut to improve behavioural outcomes in autism spectrum disorder. J Neural Transm (Vienna);2026 (Jan 16)
Autism spectrum disorder (ASD; autism) is a prevalent and heterogeneous neurodevelopmental disorder characterised by social communication difficulties, repetitive behaviour, and restricted interests. For individuals with autism, in particular those who require substantial care-giver support, irritability, heightened sensitivity and aggressive behaviours in response to sensory, social, or environmental triggers can limit access to health, education and community services and impact quality of life. Although gastrointestinal (GI) symptom severity is associated with irritable behaviours in autism, there are few approved medications to address challenging behaviour or comorbid psychiatric disorders, or gut dysfunction in autism. Here, we review the mode of action of drugs undergoing clinical trials for treating irritable behaviour and improving social communication as well as potentially gastrointestinal symptoms in individuals with autism. Repurposed medications such as pimavanserin (an atypical antipsychotic) and the antiparasitic suramin are being trialled for treating irritable behaviours and impaired social interaction, respectively, in autism. NTI164 is a medicinal cannabis-derived biopharmaceutical undergoing clinical safety and efficacy trials for improving social communication and similarly, ML-004 is an investigational drug being assessed for treating social communication deficits. Two other repurposed medications previously utilised for schizophrenia; brexpiprazole and lumateperone, as well as AB-2004, a microbial metabolite sequestering agent (with proposed actions on gut function), are undergoing clinical trials to assess impacts on irritability associated with autism. We also outline emerging findings from clinical studies on the use of gut-targeted small molecules and bacteriophage therapy, prebiotics, probiotic supplementation and faecal microbiota transplantation (FMT), and their potential impact on behavioural symptoms in autism.
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20. Naguy A. Leucovorin for Autism. Am J Ther;2026 (Jan 15)
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21. Nakamura M, Nakamura T, Nakagami A, Nakagaki K, Kawai N, Ichinohe N. Hyperactivity is linked to elevated cortisol levels: comprehensive behavioral analysis in the prenatal valproic acid-induced marmoset model of autism. Transl Psychiatry;2026 (Jan 16)
Hyperactivity is frequently observed in individuals with autism spectrum disorder (ASD) and significantly affects various aspects of life. This underscores the critical need for effective intervention methods tailored to the needs of individuals with ASD. Non-human primate models offer a promising avenue for elucidating the intricate interplay between ASD characteristics and developing individualized therapeutic strategies. This study examined the activity levels and behavioral dynamics in a prenatal valproic acid-induced (VPA) common marmoset model of ASD using ultraminiature data loggers, employing a more detailed approach to behavioral pattern analysis than is traditionally utilized. Although the overall activity levels showed no significant differences, the VPA group exhibited increased activity during specific hours, which is consistent with human ASD studies. Sample Entropy, a statistical measure used to quantify the regularity and unpredictability of time-series data, was higher during daytime in the VPA group, indicating reduced regularity in activity patterns akin to impulsive behavior in ASD. Subtle patterns that were not discernible through simple group comparisons were identified, highlighting the potential of this method as a valuable tool for the behavioral analysis of human ASD. Associations between erratic activity patterns, brief resting intervals, and elevated cortisol levels were observed, all of which correspond to stress phenotypes in individuals with ASD. The findings revealed variations in activity among the adult VPA groups, potentially linked to stress responses. Additionally, VPA juvenile marmosets showed increased locomotor activity in the social interaction test, complementing the adult behavioral findings and suggesting age-dependent manifestations of hyperactivity in this model. This non-human primate model effectively replicates real-world scenarios encountered by individuals with ASD exhibiting hyperactivity, thus holding significant implications for the advancement of personalized therapeutic strategies.
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22. Rashidi AG, Oliver LD, Moxon-Emre I, Hawco C, Dickie EW, Pan R, Secara MT, Yu JC, Szatmari P, Desarkar P, Foussias G, Buchanan RW, Malhotra AK, Lai MC, Voineskos AN, Ameis SH. Comparative Analysis of Social Cognitive and Neurocognitive Performance Across Autism and Schizophrenia Spectrum Disorders. Schizophr Bull;2026 (Jan 16);52(1)
BACKGROUND AND HYPOTHESIS: Social cognitive and neurocognitive performance is impacted in autism and schizophrenia spectrum disorders (SSDs). Here, we compared social cognitive and neurocognitive performance across a large transdiagnostic sample of participants with autism, SSDs, and typically developing controls (TDCs). STUDY DESIGN: Participants (total N = 584; autism N = 100, SSDs N = 275, TDCs N = 209; aged 16-55 years; 61% male assigned at birth) completed lower-level (eg, emotion processing) and higher-level (eg, theory of mind) social cognitive tasks, the MATRICS Consensus Cognitive Battery, and a measure of social functioning. Nonparametric groupwise comparisons were undertaken, adjusting for age and sex, and within-group correlations were used to examine associations between social cognition, neurocognition, and social functioning. STUDY RESULTS: Autistic and SSD groups performed worse than TDCs on lower- and higher-level social cognitive tasks, with few autism-SSD differences found. Autism and SSDs had lower neurocognitive scores than TDCs; SSDs demonstrated lower processing speed, working memory, verbal learning, and visual learning versus autism. Positive associations between social cognitive tasks and neurocognition were observed across groups, and self-reported measures of empathy were consistently correlated with social functioning. CONCLUSIONS: This study represents the largest transdiagnostic comparison of both social cognition and neurocognition in an autism/SSD sample reported to date. Autistic participants and those with SSDs showed similar performance on lower- and higher-level social cognitive tasks relative to controls, while neurocognition was less impacted in autism versus SSDs. These findings underscore the importance of transdiagnostic research into the mechanisms underlying social cognitive deficits and highlight the potential for developing transdiagnostic interventions.
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23. Reid K, Sacrey LR, Zwaigenbaum L, Brian JA, Smith IM. Autism Observation Scale for Infants: Systematic Review and Meta-Analysis in Samples at Increased Likelihood of Autism Spectrum Disorders. Rev J Autism Dev Disord;2025;12(4):683-705.
The Autism Observation Scale for Infants (AOSI) is being applied to non infant sibling populations. Assessment of the tool’s utility across increased likelihood (IL) populations is therefore needed. A systematic review and meta-analysis was conducted on 17 studies identified from six databases. The AOSI has been used in four IL contexts: infant siblings, infants with Fragile X Syndrome, Tuberous Sclerosis Complex, and Down Syndrome. There were three main findings: (1) five studies report classification data though no consistent approach was used; (2) group differences between IL-ASD, IL non-ASD, and controls started at 12-months; and (3) large effect sizes between IL-ASD and control samples was identified. Utility of the AOSI to identify early signs of ASD in IL populations was demonstrated. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40489-023-00417-y.
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24. Sandhu M, Latif S, Bayor A, Lu W, Kholghi M, Prabhu D, Silvera-Tawil D. Empowering caregivers of individuals with autism spectrum disorder through sensor-based monitoring of emotional dysregulation: A scoping review. Int J Med Inform;2026 (Jan 9);209:106262.
OBJECTIVE: This paper critically reviews existing work in sensor-based emotional dysregulation monitoring to support caregivers of individuals diagnosed with autism spectrum disorder (ASD). METHODS: A systematic literature search was conducted across six databases (Google Scholar, IEEE Xplore, Scopus, ACM Digital Library, Web of Science, and PubMed) covering publications from January 1, 2016, to September 30, 2025. RESULTS: Thirty-two studies met inclusion criteria, comprising 27 focused on sensor-based emotional dysregulation detection and 5 addressing intervention or support mechanisms. These studies suggest that sensor-based technologies have potential for continuous physiological monitoring, facilitating early detection and intervention to support emotional dysregulation episodes. Critical deficiencies were identified in real-time alerting capabilities, autonomous intervention deployment, self-regulation framework integration, system reliability, long-term sustainability, user interface design, and cross-environment scalability. CONCLUSION: There is a significant need to develop real-time emotion monitoring systems to empower caregivers in delivering timely, targeted interventions for individuals diagnosed with ASD. Future research should prioritise the development of real-time alert systems, autonomous intervention protocols, and solutions optimised for reliability, sustainability, usability, and adaptability across heterogeneous care settings.
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25. Scott S, Okoniewski KC, Edwards A, Wheeler AC. From Concerns to Care: Understanding Parental Priorities and Access to Early Intervention for Infants With Fragile X Syndrome. J Intellect Disabil Res;2026 (Jan 16)
BACKGROUND: This study examined the experiences of infants diagnosed with fragile X syndrome (FXS) in the newborn period and their caregivers during the infant’s first year of life. The primary objective was to understand caregiver concerns and access to early intervention services for infants diagnosed with FXS presymptomatically. METHODS: Participants for this study were part of a pilot intervention programme for newborns with FXS and their caregivers. A mixed-methods approach was taken combining data from caregiver questionnaires as well as intervention session notes to identify caregiver concerns and early intervention services. RESULTS: Caregivers of infants with FXS consistently reported concerns in motor development in the first few months of life with increasing concern regarding communication development closer to 12 months of age. Despite all being eligible based on having an established condition and instruction for accessing early intervention services provided by the intervention team, only half of participants were enrolled in their state’s Part C programme by the child’s first birthday. Occupational therapy was the most accessed service (33% of infants), followed by physical therapy (27%), feeding therapy (20%), speech therapy (13%) and developmental play therapy (7%). CONCLUSIONS: Although one of the main benefits of earlier diagnosis is purported to be earlier access to interventions, we found infants diagnosed with FXS prior to emergence of symptoms experienced barriers to accessing early intervention services, despite FXS being an established condition for Part C services. These findings highlight the need for further exploration of the referral process for infants diagnosed with neurogenetic conditions in infancy.
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26. Sun Z, Amjad N, Muhammad M, Li Z. Harnessing MSC‑derived exosomes to modulate the pathophysiology of ASD: Recent advances and therapeutic implications (Review)
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by marked genetic heterogeneity and diverse environmental influences. Current treatment approaches focus on symptom management, with only a limited number of effective interventions targeting the underlying causes. Recently, mesenchymal stem cells (MSCs) and their derived exosomes (MSC‑Exos) have emerged as promising candidates for ASD therapy owing to their potent immunomodulatory, neuroprotective and targeted delivery properties. The present review discusses the functions of MSC‑Exos and their potential use in ASD. MSC‑Exos improve neuroinflammation, enhance synaptic plasticity and restore neural network function by delivering bioactive molecules. Moreover, MSC‑Exos exhibit a low immunogenicity, a favorable safety profile and scalability for clinical production. Despite promising results however, clinical trials continue to face challenges, particularly in standardizing the isolation, characterization, dosing and administration routes of exosomes. In addition, significant challenges persist in production processes, quality control and the elucidation of the mechanisms of action. In conclusion, MSC‑Exos represent a groundbreaking, cell‑free therapeutic strategy with substantial potential to target the core pathophysiology of ASD. In the future, multicenter randomized controlled trials and interdisciplinary collaborations will be crucial for translating preclinical findings into the development of effective and transformative therapies for ASD.
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27. Tiley C, Lampropoulou P, Samara M, Kyriakopoulos M. The prevalence of autism spectrum traits and autism spectrum disorders in children and adolescents with obsessive compulsive disorder: systematic review and meta-analysis. BJPsych Open;2026 (Jan 16);12(1):e39.
BACKGROUND: Autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD) may coexist in children and adolescents and present with several overlapping features. AIMS: We aimed to assess the prevalence of ASD traits and diagnosis in children and adolescents with OCD, explore the correlation between OCD severity and ASD traits/diagnosis, and examine the impact of ASD traits/diagnosis on global functioning in this population. METHOD: Electronic searches were carried out on Pubmed, Embase and PsycINFO, using selected keywords and specified inclusion and exclusion criteria. Meta-analysis was performed with R Version 4.3.1. RESULTS: Of 1410 studies initially identified, 29 reported on the prevalence of ASD traits or diagnosis. Pooled mean prevalence rate was 8.0% (95% CI 5.0-13%). ASD questionnaire scores were higher in OCD versus control groups (standardised mean difference: 1.23; 95% CI 0.76-1.69). There was limited significant correlation between ASD questionnaire scores and OCD questionnaire scores, and no significant differences in these scores were demonstrated between OCD samples and samples diagnosed with comorbid OCD and ASD (mean difference -0.41; 95% CI -1.23 to 0.40). Functional impairment appeared elevated with ASD traits/diagnosis in OCD, but meta-analysis feasibility was limited. CONCLUSIONS: This review indicates higher ASD traits and diagnosis in children and adolescents with OCD compared with the general population. Limited data and methodological constraints in trials limit generalisability, warranting further research.
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28. Triono A, Iskandar K, Nurani N, Hidayati IS, Nugrahanto AP, Mooiindie KH, Herini ES. ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review. Neurogenetics;2026 (Jan 16);27(1):9.
ADK deficiency, an extremely rare inherited metabolic disorder affecting methylation, is likely underdiagnosed as a cause of epilepsy. The limited number of reported cases and variability in presentation, particularly the absence of hypermethioninemia, pose diagnostic challenges. We report an 11-year-9-month-old Indonesian boy with refractory seizures, developmental delay, dysmorphic features, hypotonia, and intellectual disability. Despite normal methionine levels, WES revealed a variant in the ADK gene, confirmed by Sanger sequencing; both parents were heterozygous carriers. Management with multiple antiseizure medications and a methionine-restricted diet reduced seizures, though development remained limited. This case report highlights the first genetically confirmed ADK deficiency case from Indonesia. A concise literature review of reported cases worldwide is also provided to contextualize this atypical phenotype and discuss current diagnostic and therapeutic considerations.
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29. Wang C, Cheng M, Lu Y, Guo J, Liu X, Feng Z, Liu S, Zhao X. Evaluation of Brain Microstructural Alterations in Preschool Autism Spectrum Disorder: A Voxel-Wise Multimodal MRI Study. J Magn Reson Imaging;2026 (Jan 16)
BACKGROUND: Autism Spectrum Disorder (ASD) presents with early neurodevelopmental alterations in preschool children, yet comprehensive characterization using multimodal quantitative MRI remains limited in this age group. PURPOSE: To investigate voxel-wise brain microstructural differences in preschool ASD through integrated analysis of cerebral perfusion, multiparametric relaxometry, and magnetic susceptibility. STUDY TYPE: Prospective case-control. POPULATION: Twenty nine-children with ASD (age 2-6 years; 23 males/6 females) and 25 age-/sex-matched healthy controls (HC). FIELD STRENGTH/SEQUENCE: 3.0 T MRI; high-resolution 3D-T1WI, quantitative susceptibility mapping (QSM), synthetic MRI (SyMRI), 3D pseudo-continuous arterial spin labeling (3D-pCASL). ASSESSMENT: Clinical assessments included the Gesell Developmental Schedules (GDS) and Childhood Autism Rating Scale (CARS). Imaging analysis consisted of voxel-wise whole-brain assessment of QSM, T1/T2/PD, and cerebral blood flow (CBF) maps. STATISTICAL TESTS: General linear models with cluster-based thresholding were applied for group comparison; Spearman’s rank correlation with Bonferroni correction was used for clinical associations; and receiver operating characteristic (ROC) analysis with Delong’s test was performed to compare diagnostic performance based on the areas under the curve (AUCs). RESULTS: Compared to HC, children with ASD showed decreased QSM values in the left superior/middle frontal gyri (SFG/MFG; cluster = 212 voxels, peak T = 5.55, p < 0.001). They also had reduced T1 relaxation times in bilateral SFG/MFG/precentral/postcentral gyri (four clusters: 315-750 voxels, peak T = 5.11-5.88, all p < 0.001). QSM values in the left SFG/MFG correlated positively with fine motor scores (r = 0.630, p < 0.001), while T1 values in the bilateral precentral/postcentral gyri correlated with gross motor scores (right: r = 0.548, p = 0.002; left: r = 0.461, p = 0.012). ROC analysis showed high diagnostic accuracy for both QSM (left SFG/MFG AUC = 0.858) and T1 values (left SFG/MFG AUC = 0.905; bilateral precentral/postcentral gyri AUC = 0.892-0.908). DATA CONCLUSION: Preschool ASD demonstrates prefrontal iron deficiency (reduced QSM) and sensorimotor myelination alterations (decreased T1), which correlate with motor deficits and show high diagnostic efficacy. EVIDENCE LEVEL: 2. TECHNICAL EFFICACY: Stage 2. This study used advanced, non‐invasive MRI scans to compare the brains of 29 preschool children with autism spectrum disorder (ASD) and 25 typically developing children. The results showed that children with ASD had two key differences: reduced iron content in the prefrontal cortex and altered tissue structure (suggesting differences in myelination) in sensorimotor areas. Importantly, these brain changes were correlated with the children's scores on tests of fine and gross motor skills. These findings indicate that multimodal MRI can detect sensitive biomarkers of ASD, supporting its potential role in aiding early diagnosis and objective assessment. eng
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30. Westgate V, Thompson C, Caramaschi D, O’Mahen H. Correction: « I ask them what autism means for them »: a qualitative study of staff experiences of working with autistic women and birthing people in community perinatal mental health teams. BMC Psychiatry;2026 (Jan 15);26(1):47.
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31. Yadav AS, Sravanti L, Chauhan VS, Singh H, Velusamy A, Madegowda RK. CARER program for autism spectrum disorder: a formative qualitative study on developing an early play-based, parent-mediated intervention in the Indian context. Child Adolesc Psychiatry Ment Health;2026 (Jan 16)
BACKGROUND: Families of children with Autism Spectrum Disorder (ASD) often face unmet needs in psychoeducation, skill-building, and coping with behavioral challenges, particularly in low-resource or task-sharing settings. Existing parent-mediated interventions are either intensive, specialist-led, or focus primarily on psychoeducation, leaving gaps in structured caregiver training and support for parental well-being. Therefore, we aimed to develop an early, play-based, parent-mediated intervention program integrating Naturalistic Developmental Behavioral Interventions (NDBI) and structured play-based strategies to enhance caregiver competence and child developmental outcomes, tailored for use in resource-scarce, brief outpatient settings. METHODS: The current study reports the qualitative phase of a broader mixed-methods, proof-of-concept investigation conducted at a premier medical college and its affiliated tertiary hospital within the Armed Forces Medical Services (AFMS), India. Focus group discussions were conducted with purposively selected primary stakeholders (five professionals and five parents of children ASD) supplemented by expert validation to develop a play-based, parent-mediated intervention. Only qualitative findings from the program development phase are presented; quantitative feasibility and outcome data will be reported separately. Thematic analysis of detailed field notes informed program adaptation. The CARER (Communication & social skills, Autism, Restricted and repetitive behaviors management, Empowerment of caregivers, and Responsive play) intervention program was structured into 12 outpatient sessions (45-60 min each), incorporating psychoeducation, modeling, guided parent-child practice, barrier-solving, home tasks, and strategies addressing parental stress. Credibility was ensured through investigator triangulation and member checking, with reporting aligned to Consolidated Criteria for Reporting Qualitative Research (COREQ) guidelines. RESULTS: Thematic analysis to understand stakeholders’ perspectives revealed four core domains: (i) psychoeducation, (ii) caregiver training needs, (iii) educational needs of the child, and (iv) parental stress. The CARER program operationalizes these themes into structured, play-based sessions targeting communication, social interaction, restricted and repetitive behaviors, sensory issues, and caregiver empowerment. The program emphasizes parent-mediated delivery and home generalization of skills, balancing feasibility in outpatient settings with developmental relevance for children with ASD. CONCLUSIONS: The CARER program represents an early, brief, and pragmatically designed outpatient parent-mediated intervention framework to support families of young children with ASD. Further piloting and systematic evaluation in larger samples across similar low-resource settings are needed to assess feasibility, acceptability, fidelity of delivery, and potential clinical impact, and to inform ongoing adaptation. TRIAL REGISTRATION: AFMRC PROJECT NO :5337 /2020.
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32. Zhang Y, Rutsohn J, Kim SH, Pandey J, Schultz RT, Zwaigenbaum L, Burrows C, Dager SR, John TS, Estes AM, McKinstry RC, Marrus N, Pruett JR, Jr., Styner M, Hazlett HC, Piven J, Shen MD, Garic D. Extra-axial cerebrospinal fluid volumes from 6 to 24 months of age are associated with poorer executive function at school-age in children with and without autism. J Neurodev Disord;2026 (Jan 16)
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33. Zografakis G, Papanikolaou K, Pehlivanidi N, Malogiannis I, Giannoulis E, Pavlou E, Nomikou E, Pehlivanidis A. Genetic predisposition and the role of homocysteine in a female with late diagnosis of autism. Psychiatr Genet;2025 (Dec 24)
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and communication, as well as restricted and repetitive behaviors. Although ASD often manifests during early childhood, many individuals are diagnosed later in life due to difficulties in meeting increasing social demands. Early diagnosis and personalized treatment are crucial in lifetime ASD symptom trajectories. We report the case of a 27-year-old woman diagnosed with ASD in adulthood, in correlation with elevated homocysteine (Hcy) levels due to homozygosity for the MTHFR C677T polymorphism, whose symptoms deteriorated, possibly related to dietary changes. Following Hcy blood levels normalization, autistic symptoms of social interaction improved. This case highlights a potential relationship between environmental factors, such as dietary changes, and the late diagnosis of ASD, supporting the theory that interaction between environment and genetics, possibly, plays a role in ASD development.
