1. Barón-Mendoza I, Márquez LA, Arenas AG, Guzmán-Condado J, Martínez-Rojas VA, Anguiano-Buenfil J, Mejía-Hernández M, Almazán JL, Pérez-Martínez L, Pedraza-Alva G, Galván EJ, Zepeda A. Single-nucleotide polymorphism analysis accurately predicts multiple impairments in hippocampal activity and memory performance in a murine model of idiopathic autism. Sci Rep;2025 (Jan 4);15(1):749.

Autism spectrum disorder (ASD) comprises alterations in brain anatomy and physiology that ultimately affect information processing and behavior. In most cases, autism is considered idiopathic, involving alterations in numerous genes whose functions are not extensively documented. We evaluated the C58/J mouse strain as an idiopathic model of ASD, emphasizing synaptic transmission as the basis of information processing. Through in silico analysis, we found that the C58/J strain carries single nucleotide polymorphisms (SNPs) compared to the C57BL/6J control strain related to synaptic structure and LTP induction. These SNPs have human orthologs previously associated with ASD. We then assessed chemical potentiation (cLTP) in synaptosomes, the electrophysiological properties of hippocampal CA3 cells, and the induction of LTP in ex-vivo slices. An increased proportion of synaptosomes expressing the GluA1 subunit of AMPA receptor and Nrx1β in the membrane was found in the C57BL/6J control strain, but not in C58/J mice, after cLTP induction. Additionally, several electrophysiological properties of CA3 pyramidal cells and hippocampal communication were altered. Behaviorally, C58/J mice exhibited hyperactivity and subtle memory changes. Our results demonstrate that an idiopathic model of ASD exhibits alterations in hippocampal physiology from the cellular to the circuitry and behavioral levels.

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2. Bridi MCD, Peixoto L. Excitatory/Inhibitory imbalance as a mechanism linking autism and sleep problems. Curr Opin Neurobiol;2025 (Jan 3);90:102968.

Sleep problems occur more frequently in individuals with autism spectrum disorder (ASD) than in typically developing individuals, and recent studies support a genetic link between ASD and sleep disturbances. However, it remains unclear how sleep problems may be mechanistically connected to ASD phenotypes. A longstanding hypothesis posits that an imbalance between excitatory and inhibitory (E/I) signaling in the brain underlies the behavioral characteristics of ASD. In recent years, emerging evidence has shown that regulation of the E/I ratio is coupled to sleep/wake states in wild-type animal models. In this review, we will explore the idea of altered E/I regulation over the sleep/wake cycle as a mechanism bridging sleep disruption and behavioral phenotypes in ASD.

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3. Iftimovici A, Martinez G, Victor J, Bendjemaa N, Jantac C, Danset-Alexandre C, Amado I, Pina-Camacho L, Chaumette B, Fatjó-Vilas M, Fañanás L, Duchesnay E, Krebs MO. Schizophrenia Following Early Adolescence Prodrome: A Neurodevelopmental Subtype With Autism-like Sensorimotor and Social Cognition Deficits. Schizophr Bull;2025 (Jan 5)

BACKGROUND AND HYPOTHESIS: While age at onset in schizophrenia (SCZ) is usually defined by age at onset of psychosis, the illness actually occurs earlier, with a prodrome often starting in childhood or adolescence. We postulated that SCZ with early-adolescence prodromes (SCZ-eaP) presents with social cognition deficits and sensorimotor impairments more similar to autism spectrum disorders (ASD) than SCZ with late-adolescence prodromes (SCZ-laP). STUDY DESIGN: The movie for the assessment of social cognition and neurological soft signs (NSS) were compared between four groups, ASD, SCZ-eaP (<15 years), SCZ-laP (>15 years), and controls (N = 119), while accounting for age, sex, intelligence quotient, education level, and medication effect. Mediation analyses tested the effect of NSS on social cognition, across groups, and local gyrification indices were used to test whether NSS reflected deviations in early neurodevelopmental trajectories. STUDY RESULTS: For social cognition and NSS, subjects with ASD were not different from SCZ-eaP, while they differed from SCZ-laP. Age at onset of prodrome correlated with NSS (r = -0.34, P = .018), and social cognition (r = 0.28, P = .048). Neurological soft signs mediated social cognition impairment across diagnoses (β = -1.24, P < 1e-6), and was explained by hypergyrification in the right fusiform gyrus, right frontal pole gyrus, and left postcentral gyrus. CONCLUSIONS: Earlier age of prodrome in SCZ is associated with impaired social cognition, mediated by neurodevelopmentally-related sensorimotor impairments along the ASD-SCZ spectrum. It suggests age of prodrome, rather than the age at psychosis onset, should be considered to define more homogeneous subgroups in SCZ.

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4. Kınacı-Biber E, Yardımcı-Lokmanoğlu BN, Mutlu A. Early Motor Repertoire and Developmental Functioning at Later Age of Children Who Were Diagnosed with Autism Spectrum Disorder: A Pilot Study. Phys Occup Ther Pediatr;2025 (Jan 5):1-15.

AIMS: Autism Spectrum Disorder (ASD) may exhibit early motor delay, and long-term motor impairments in addition to social and communicative problems. This pilot study aimed to describe (i) the early motor repertoire using General Movements Assessment (GMA) of infants later diagnosed with ASD, (ii) the developmental outcomes in these children between 24- and 42-months, and (iii) the relationship between GMA and developmental outcomes. METHODS: Ten children diagnosed with ASD were included. All infants were assessed using Motor Optimality Score for 3- to 5-month-old Infants-Revised score sheet for GMA, and the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) for developmental functioning aged between 24- and 42-months. RESULTS: The median Motor Optimality Score-Revised (MOS-R) was 10 (range: 6-28), considered reduced optimal, and 80% of children had less than optimal MOS-R. 60% of the children had aberrant fidgety movements and abnormal postural patterns, and 80% had abnormal but not cramped-synchronized movement character. The mean composite scores of all subdomains in Bayley-III were below 69 (extremely low) in all children. CONCLUSIONS: This study highlighted the importance of early motor repertoire and longitudinal developmental assessments in children with ASD. Further research is needed to explore the potential of this assessment as a screening tool.

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5. Manor-Binyamini I. Bedouin fathers of children with developmental disabilities-Stress, stigma and collaboration with professionals. Res Dev Disabil;2025 (Jan 3);157:104902.

BACKGROUND: Research has not fully elucidated the challenges experienced by the caregivers of children with developmental disabilities (DDs) in different sociocultural contexts. Studies on parents, especially fathers, of children with DDs in the Middle East are especially rare. Similarly, the subject of collaboration between Bedouin fathers and professionals has seen little research. This study fills these gaps by highlighting the experiences of Bedouin fathers raising children with DDs. AIMS: This study answered the following questions: A) Do stigma and stress affect the collaboration between Bedouin fathers and professionals? B) Do relationships exist between stigma, stress and collaboration? METHODS: Eighty-eight Bedouin fathers of children with DDs completed questionnaires on sociodemographic details, stigma, stress and collaboration between parents and professionals. Data were analysed using Pearson correlations, a correlation matrix and hierarchical linear regression. RESULTS: The findings revealed a significant positive relationship between stigma and stress, a significant negative relationship between stigma and collaboration and a significant negative relationship between stress and collaboration. Three demographic characteristics were associated with greater influence on fathers’ collaboration with professionals: 1) comorbidity in s child’s diagnosis, 2) age of DD diagnosis and 3) father’s age. CONCLUSIONS AND IMPLICATIONS: The findings emphasise the need to develop tailored intervention programmes to assist fathers in reducing their sense of stigma and stress and in increasing their competence in collaborating with professionals.

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6. Medeiros NL, Ferreira FR, Vaz DV, Silva HA, An M, Palisano RJ, Leite HR, Camargos ACR. Family-Professional Collaborative Physical Therapy Intervention via Telehealth for Children with Developmental Disabilities: A Mixed-Method Feasibility Study. Phys Occup Ther Pediatr;2025 (Jan 5):1-14.

AIMS: To evaluate attendance rates, daily therapy engagement, parents’ perceptions regarding feasibility, acceptability, family-centeredness, and individualized outcomes of a collaborative telehealth-based physical therapy intervention for children with disabilities. METHOD: Mixed-method design involving 15 families and 17 children with disabilities (range age 4-90 months). Parents recorded time spent on home activities. Family-centeredness was assessed using the Measure of Processes of Care-20-item (MPOC-20). The Canadian Occupational Performance Measure (COPM) and Goal Attainment Scaling (GAS) were used to measure individualized outcomes. Interviews were conducted on families’ perceptions of the telehealth service. RESULTS: Parents attended an average of 8.29 out of 9 scheduled telehealth sessions and spent an average of 1.32 (±0.58) hours per day on therapy activities. Parents rated the services as family-centered « to a fairly great extent » or « to a great extent ». On average, children achieved individualized goals. Parents identified therapists’ collaborative behaviors and information sharing as facilitators, beliefs about their abilities and technical issues as barriers, and empowerment and active engagement as benefits of the telehealth sessions. CONCLUSION: The family-professional collaborative telehealth physical therapy was perceived by parents as acceptable and feasible to address their children needs. Children achieved individualized goals and participating families actively engaged in the intervention process.

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7. Minnigulova A, Karpychev V, Davydova E, Pereverzeva D, Sorokin A, Tyushkevich S, Mamokhina U, Danilina K, Dragoy O, Arutiunian V. Altered thalamotemporal structural connectivity is associated with autistic traits in children with ASD. Behav Brain Res;2025 (Jan 3);481:115414.

BACKGROUND: Thalamocortical functional and structural connectivity alterations may contribute to clinical phenotype of Autism Spectrum Disorder (ASD). As previous studies focused mainly on thalamofrontal connections in ASD, we comprehensively investigated the thalamic functional networks and white matter pathways projecting also to temporal, parietal, occipital lobes and their associations with core and co-occurring conditions of this population. METHODS: A total of 38 children (19 with ASD) underwent magnetic resonance imaging and behavioral assessment. Functional and structural scans were processed to analyze between-group thalamic connectivity differences and their relationships to measurements of autistic traits and language abilities. RESULTS: No functional differences were found between groups across 20 networks in each hemisphere. However, we showed that the diffusion properties of thalamocortical pathways projecting to the right and left temporal lobes were disrupted in children with ASD. Additionally, there was a significant association between diffusion differences of thalamotemporal tracts and severity of autistic traits. CONCLUSIONS: Our findings on altered thalamotemporal structural but not functional connectivity contribute to the understanding of white matter organization of thalamocortical pathways in children with ASD.

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