Pubmed du 04/01/25

Pubmed du jour

1. Psychometric evaluation of the Autism Symptom Dimensions Questionnaire. Dev Med Child Neurol;2025 (Jan 3)

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2. Abd El-Raziq M, Saiegh-Haddad E, Meir N. Language, theory of mind and cognitive skills in Arabic-speaking children with and without autism: Evidence from network and cluster analyses. J Commun Disord;2024 (Nov 10);113:106476.

INTRODUCTION: Autism spectrum disorder (ASD) is characterized by impairments in social interactions, social communication, and repetitive and stereotyped patterns of behavior. Previous studies have reported mixed findings regarding the links between language (i.e., phonology, morphosyntax, lexicon, and pragmatics), theory of mind (ToM), executive functions (EFs), and central coherence measures in children with ASD. METHODS: A total of 163 Palestinian-Arabic-speaking children aged 4-11 participated: 76 with ASD and 87 with typical language development (TLD). The children`s phonological, morphosyntactic, lexical, and pragmatic skills, along with verbal and non-verbal ToM abilities were evaluated. Additionally, cognitive assessments included non-verbal IQ, EF, and central coherence processing. RESULTS: Group-level results showed that children with ASD scored lower than their TLD peers in all measures. Network analysis revealed robust interconnections between language, ToM, and cognitive skills in both groups. In autistic children, language was a central node, with pragmatics prevailing over morphosyntax and lexicon, while age was central in the TLD group. Cluster analysis identified four language clusters within the ASD group, demonstrating dissociations between language domains: (1) high performance across all domains, (2) moderate performance in phonology and morphosyntax with low pragmatic abilities, (3) moderate performance in phonology and lexicon with low morphosyntax and pragmatics, and (4) moderate phonology and lexicon with extremely poor morphosyntax and pragmatics. Autistic children with enhanced language abilities performed better in verbal and non-verbal ToM and EF tasks. CONCLUSIONS: Our findings underscore the variability in language, ToM, and cognitive profiles of autistic children, showing dissociation within and between different domains in some autistic children. These results offer insights for applied interventions.

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3. 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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4. Blessing C, Brendli Brown KR, Pandey T, Simmons H, O’Brien J. Changing practices, procedures, and perceptions: A multi-year person-centered planning initiative in group homes for residents with intellectual and developmental disabilities. J Intellect Disabil;2025 (Jan 4):17446295241312808.

Person-centered planning has been shown to benefit people with disabilities and their quality of life. However, we have little knowledge of how person-centered planning can benefit staff and administration within a group home organization, as well as the extent to which it results in changes to organizational practices and procedures, as well as perceptions of people with disabilities. In this qualitative study, we explored the perspectives of organizational employees, an affiliating behavioral consultant, and residents with intellectual and developmental disabilities, taking into consideration key insights from person-centered planning consultant-coaches, to understand the effects of a person-centered planning initiative on the group home organization. Accompanying our findings are five stories that poetically describe each of the participating residents and their experiences with organizational employees throughout the implementation of the initiative. Implications for research and practice are discussed.

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5. Desroches ML. Nurses should prioritise constipation prevention for people with severe/profound intellectual and developmental disabilities and multiple long-term conditions. Evid Based Nurs;2025 (Jan 3)

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6. Emerson C, Koob C, Sease K, Griffin S. Employing a Phased, Interdisciplinary Approach Across Healthcare and School Settings: mHealth Adaptations for Youth with Autism Spectrum Disorder At-Risk of Experiencing Obesity. J Autism Dev Disord;2025 (Jan 4)

Youth with autism spectrum disorder (ASD) are at nearly twice the risk of experiencing obesity, compared to youth without ASD. Wellness Education to Create Healthy habits and Actions to Thrive (WE CHAT) is a novel chatbot that engages participants to enhance primary care delivery and associated care coordination services through mobile health (mHealth) technology focused on social determinants of health (SDOH) and social-emotional health. This study examines multiple perspectives regarding the development and implementation of innovative mHealth technology among youth with ASD. The phases of this study include (1) discussion among individuals and parents of children with ASD, (2) in-depth interviews with primary care providers (PCPs) who treat youth with ASD, and (3) in-depth interviews with interdisciplinary rehabilitation providers who treat youth with ASD. Phases 1 and 2 employed rapid qualitative analysis, and Phase 3 involved inductive thematic analysis to provide context to gaps identified in prior phases. Key themes across the three phases included the variability of symptoms among individuals with ASD, the differences in perceived value of mHealth technology, the importance of family-centered care, and the role of interdisciplinary support. Participants recommended the development of branching logic to increase the flexibility of mHealth technology designed for youth with ASD. This study gathered insight from multiple perspectives to identify opportunities for supporting independent participation in mHealth technology while reducing associated caregiver burden among youth with ASD. These findings may inform refinement and expansion of WE CHAT for patients with varying health needs.

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7. Kildahl AN, Hellerud JMA, Halvorsen MB, Helverschou SB. The Aberrant Behavior Checklist in a Clinical Sample of Autistic Individuals with Intellectual Disabilities and Co-Occurring Mental Health Problems: Psychometric Properties, Factor Structure, and Longitudinal Measurement Invariance. J Autism Dev Disord;2025 (Jan 4)

The Aberrant Behavior Checklist (ABC) was originally developed to evaluate interventions, and is a well-established assessment tool for challenging behaviours in people with intellectual disabilities and autistic people. However, whether the ABC displays longitudinal measurement invariance (i.e., whether it captures the same constructs over time) has been sparsely explored. The aim of the current study is to explore the factor structure, longitudinal measurement invariance, and clinical correlates of the ABC in autistic individuals with intellectual disabilities. Using data from a multicentre study of mental health assessment and treatment in autistic people with intellectual disabilities, the intake ABC scores of 200 autistic individuals with intellectual disabilities were used to explore the ABC factor structure, internal consistency, and clinical correlates (age, gender, level of intellectual disability, autism characteristics, communication skills). Scores across three time points (intake, post-intervention, follow-up) were used to explore longitudinal measurement invariance and internal consistency over time. The original five-factor structure showed a non-optimal but acceptable fit, which was similar or slightly improved compared to previous studies. Associations for some ABC subscales were found to be positive for autism characteristics and negative for communication skills. Four of the five subscales (irritability, social withdrawal, stereotypic behaviour, inappropriate speech) showed residual levels of longitudinal measurement invariance, while one subscale showed noninvariance (hyperactivity/noncompliance). The current study demonstrates the construct validity and applicability of the ABC in autistic individuals with intellectual disabilities, while also indicating that caution is advised for one of its subscales in comparisons across time.

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8. Leach M, Mazefsky CA, Northrup JB. Parents’ Early Concerns about Their Child with Autism: Relation to Age of Diagnosis. J Autism Dev Disord;2025 (Jan 4)

There is a substantial time gap between when parents develop concerns about their child (ages 1-2) and when they receive a diagnosis of autism (ages 3-5), delaying the onset of critical interventions. Few studies have examined how the timing, type, and quantity of early parental concerns are associated with age of diagnosis. The aims of this study were to describe characteristics of parents’ concerns in a large community-based sample and explore how characteristics of concerns relate to age of diagnosis. This study included 853 parents of 2- to 5-year-old children with an autism diagnosis. Parents completed an online survey including questions regarding their child’s age when they first became concerned about their development, what their first concern was, all concerns they have had about their child, and age of diagnosis. An earlier age at first concern and the presence of several specific types of concerns (i.e., delayed/absence response to name, reduced eye contact, developmental regression, delayed gesture development, limited emotional response) were found to be significant predictors of earlier age at diagnosis. In addition, when accounting for age of first concern and the presence of specific types of concerns, a higher number of concerns was associated with a later age of diagnosis. Several specific types of concerns significantly predict the age at diagnosis, although several of these specific types are not commonly reported by parents. Educating parents and pediatricians about these concerns may improve early detection and intervention, ultimately improving long-term outcomes for children and families.

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9. Lee KS, Lee T, Kim M, Ignatova E, Ban HJ, Sung MK, Kim Y, Kim YJ, Han JH, Choi JK. Shared rare genetic variants in multiplex autism families suggest a social memory gene under selection. Sci Rep;2025 (Jan 3);15(1):696.

Autism spectrum disorder (ASD) affects up to 1 in 59 children, and is one of the most common neurodevelopmental disorders. Recent genomic studies have highlighted the role of rare variants in ASD. This study aimed to identify genes affected by rare variants shared by siblings with ASD and validate the function of a candidate gene FRRS1L. By integrating the whole genome sequencing data of 866 multiplex families from the Hartwell Foundation’s Autism Research and Technology Initiative and Autism Speaks MSSNG project, we identified rare variants shared by two or more siblings with ASD. Using shared rare variants (SRVs), we selected candidate genes for ASD. Gene prioritization by evolutionary features and expression alterations on autism identified FRRS1L in two families, including one with impaired social behaviors. One variant in this family was 6 bp away from human-specific trinucleotide fixation. Additionally, CRISPR/Cas9 experiments demonstrated downregulation by a family variant and upregulation by a fixed site. Population genetics further demonstrated that upregulation of this gene has been favored during human evolution. Various mouse behavioral tests showed that Frrs1l knockout specifically impairs social novelty recognition without altering other behavioral phenotypes. Furthermore, we constructed humanized mice by introducing human sequences into a mouse genome. These knockin mice showed improved abilities to retain social memory over time. The results of our population genetic and evolutionary analyses, behavior experiments, and genome editing propose a molecular mechanism that may confer a selective advantage through social memory enhancement and may cause autism-related social impairment when disrupted in humans. These findings highlight the role of FRRS1L, the AMPA receptor subunit, in social behavior and evolution.

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10. Lemes VB, Gaya AR, Mota J, Brand C. Self-perceived physical fitness and occurrences of individual levels of autistic traits in adolescents: a cluster association study. BMC Psychiatry;2025 (Jan 3);25(1):14.

BACKGROUND: The association between physical fitness and autistic traits in adolescents remains under explored, especially in adolescents. Understanding this relationship can provide strategies to improve the quality of life of these people. OBJECTIVE: To identify the association between cluster characteristics derived from levels of self-perceived physical fitness and the occurrences of individual levels of autistic traits in Brazilian adolescents. METHOD: This descriptive study employed an analytical, quantitative approach involving 515 adolescents aged 11 to 18 (245 boys and 270 girls). Autistic traits were assessed using the Autism Quotient (AQ50), while physical fitness was measured with the Self-Reported Physical Fitness Questionnaire (QAPA). Cluster analysis using descriptive statistics with bootstrapping and generalized estimating equations was performed. RESULTS: Boys reported higher physical fitness levels than girls, with significant differences in General Power Strength (QAPA 4) and Physical Fitness in Sports (QAPA 7). Girls scored slightly higher on social skills. AQ50 scores indicated that girls had higher aggregated difficulties in imagination, attention, communication, and social skills compared to boys. Higher self-perceived physical fitness was associated with lower levels of autistic traits in both genders. Girls with higher QAPA scores showed significant decreases in autistic traits related to social skills and overall AQ50 scores. Boys with higher physical fitness demonstrated reduced autistic traits in the domains of imagination and communication. Age-adjusted analyses confirmed these findings. CONCLUSION: There is a significant association between self-perceived physical fitness and autistic traits in adolescents. Higher physical fitness levels are linked to fewer autistic traits, highlighting the importance of promoting physical fitness to mitigate challenges associated with autistic traits and improve adolescents’ well-being.

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11. Tao X, Croom K, Newman-Tancredi A, Varney M, Razak KA. Acute administration of NLX-101, a Serotonin 1A receptor agonist, improves auditory temporal processing during development in a mouse model of Fragile X Syndrome. J Neurodev Disord;2025 (Jan 3);17(1):1.

BACKGROUND: Fragile X syndrome (FXS) is a leading known genetic cause of intellectual disability and autism spectrum disorders (ASD)-associated behaviors. A consistent and debilitating phenotype of FXS is auditory hypersensitivity that may lead to delayed language and high anxiety. Consistent with findings in FXS human studies, the mouse model of FXS, the Fmr1 knock out (KO) mouse, shows auditory hypersensitivity and temporal processing deficits. In electroencephalograph (EEG) recordings from humans and mice, these deficits manifest as increased N1 amplitudes in event-related potentials (ERP), increased gamma band single trial power (STP) and reduced phase locking to rapid temporal modulations of sound. In our previous study, we found that administration of the selective serotonin-1 A (5-HT(1A))receptor biased agonist, NLX-101, protected Fmr1 KO mice from auditory hypersensitivity-associated seizures. Here we tested the hypothesis that NLX-101 will normalize EEG phenotypes in developing Fmr1 KO mice. METHODS: To test this hypothesis, we examined the effect of NLX-101 on EEG phenotypes in male and female wildtype (WT) and Fmr1 KO mice. Using epidural electrodes, we recorded auditory event related potentials (ERP) and auditory temporal processing with a gap-in-noise auditory steady state response (ASSR) paradigm at two ages, postnatal (P) 21 and 30 days, from both auditory and frontal cortices of awake, freely moving mice, following NLX-101 (at 1.8 mg/kg i.p.) or saline administration. RESULTS: Saline-injected Fmr1 KO mice showed increased N1 amplitudes, increased STP and reduced phase locking to auditory gap-in-noise stimuli versus wild-type mice, reproducing previously published EEG phenotypes. An acute injection of NLX-101 did not alter ERP amplitudes at either P21 or P30, but significantly reduces STP at P30. Inter-trial phase clustering was significantly increased in both age groups with NLX-101, indicating improved temporal processing. The differential effects of serotonin modulation on ERP, background power and temporal processing suggest different developmental mechanisms leading to these phenotypes. CONCLUSIONS: These results suggest that NLX-101 could constitute a promising treatment option for targeting post-synaptic 5-HT(1A) receptors to improve auditory temporal processing, which in turn may improve speech and language function in FXS.

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12. Wall CA, Hudac C, Dommer K, Li B, Atyabi A, Foster C, Wang Q, Barney E, Ahn YA, Kim M, Mahony M, Bernier R, Ventola P, Shic F. Preserved but Un-Sustained Responses to Bids for Dyadic Engagement in School-Age Children with Autism. J Autism Dev Disord;2025 (Jan 4)

PURPOSE: Dynamic eye-tracking paradigms are an engaging and increasingly used method to study social attention in autism. While prior research has focused primarily on younger populations, there is a need for developmentally appropriate tasks for older children. METHODS: This study introduces a novel eye-tracking task designed to assess school-aged children’s attention to speakers involved in conversation. We focused on a primary outcome of attention to speakers’ faces during conversation between three actors and during emulated bids for dyadic engagement (dyadic bids). RESULTS: In a sample of 161 children (78 autistic, 83 neurotypical), children displayed significantly lower overall attention to faces compared to their neurotypical peers (p <.0001). Contrary to expectations, both groups demonstrated preserved attentional responses to dyadic bids, with no significant group differences. However, a divergence was observed following the dyadic bid: neurotypical children showed more attention to other conversational agents' faces than autistic children (p =.017). Exploratory analyses in the autism group showed that reduced attention to faces was associated with greater autism features during most experimental conditions. CONCLUSION: These findings highlight key differences in how autistic and neurotypical children engage with social cues, particularly in dynamic and interactive contexts. The preserved response to dyadic bids in autism, alongside the absence of post-bid attentional shifts, suggests nuanced and context-dependent social attention mechanisms that should be considered in future research and intervention strategies.

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13. Yang N, Yang Y, Zhang W, Li X, Jiang H, Kou H, Zhang J, Wang Y, Tan L, Lu Y. Efficacy of PDD-guided tumor excision combined with photodynamic therapy in cutaneous squamous cell carcinoma. Photodiagnosis Photodyn Ther;2025 (Jan 1):104469.

BACKGROUND: Cutaneous squamous cell carcinoma (cSCC) is an aggressive tumor with unclear margins. Photodynamic diagnosis (PDD) enables the differentiation of tumor tissue from normal tissue via visible fluorescence. Photodynamic therapy (PDT) is widely used in the treatment of non-melanoma skin tumors. This study aims to illustrate the efficacy and safety of PDD-guided tumor excision combined with ALA-PDT in patients with cSCC. METHODS: This study involved 23 cSCC patients, randomly assigned to the PDD group (n=11) and the non-PDD group (n=12). Patients in the PDD group underwent tumor excision guided by PDD, while those in the non-PDD group received wide local excision (WLE). Both groups were subjected to frozen section analysis, and PDT was applied during and post-surgery. RESULTS: The negative margin rate in the PDD group was 98.6%, significantly higher than the 69.2% observed in the non-PDD group. The PDD group required fewer frozen section analyses and experienced reduced surgical duration. CONCLUSIONS: PDD effectively delineates tumor margins in cSCC, guiding the scope of surgical excision. The integration of PDD-guided resection with PDT offers a highly safe and effective therapeutic strategy for cSCC.

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14. Zahid Z, Ali S, Ayaz Y, Hassan SM, Nawaz R. Protocol for optimizing robot-assisted autism therapy sessions through gaze analysis: A pilot study investigating optimal trial count for children with comorbid autism spectrum disorder and intellectual disability. J Intellect Disabil;2025 (Jan 3):17446295241312053.

BACKGROUND: Autism spectrum disorder poses challenges in social communication and behavior, while Intellectual disabilities are characterized by deficits in cognitive, social, and adaptive skills, frequently accompanied by stereotypies and challenging behaviors. Despite the progress made in autism spectrum disorder research, there is often a lack of research focusing on individuals with co-occurring autism spectrum disorder and intellectual disability. Robot-assisted autism therapies are effective in addressing these needs. However, there is a lack of consensus on the optimal number of therapy sessions required for effective outcomes, particularly in children with comorbid autism and intellectual disability. OBJECTIVES: This study aims to investigate the optimal number of therapy sessions required for effective outcomes in robot-assisted autism therapy, specifically focusing on children with comorbid autism and intellectual disability. Gaze analysis metrics, including the average number of eye contact and average inter-eye contact delay, are utilized to assess therapy effectiveness. METHODS: This study integrates gaze analysis focusing on the average number of eye contact and average inter-eye contact delay as performance metrics. A pilot investigation was conducted to explore the critical temporal window for optimal trial count in robot-assisted autism therapy for children with autism. A mathematical model was introduced and validated for eight children with autism spectrum disorder, encompassing 56 experiments conducted over 7 weeks (one trial per week). Robots presented 8 cues in 3 categories (visual, speech, motion) with 16 cues per trial. RESULTS AND CONCLUSIONS: The results, validated using single-sample Wilcoxon signed-rank tests, revealed that the unsaturated state, with a median score of 3.44, exhibited significantly lower average inter-eye contact delay (p-value = 0.014, r = 0.86) and significantly higher average number of eye contact (p-value = 0.014, r = 0.87) compared to the hypothesized medians. These findings suggest that the unsaturated state occurring in the critical temporal window has significantly higher average number of eye contact and lower average inter-eye contact delay compared to the saturated state. This study underscores the importance of tailored and targeted interventions for children with autism spectrum disorder, facilitating the development of cost-effective, time-efficient, evidence-based treatments.

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15. Zakai-Mashiach M. I was hanging in the air and holding on tight. It’s exhausting: An autistic perspective on their journey through the general school system. Autism;2025 (Jan 4):13623613241310295.

In the past decade, autistic children have increasingly enrolled in general schools worldwide. However, most insights into their educational experiences come from educators and parents. There is a gap in understanding autistic children’s perspectives on their educational experiences. The limited evidence from autistic children primarily focuses on middle school and reveals complex feelings of loneliness, anxiety and being misunderstood by teachers and peers. Moreover, research to date has not examined the full-time period of general education, which is needed to understand the cumulative developmental trajectory from elementary through high school. To address these gaps, this study investigated the lived experiences of 10 autistic individuals (ages 19-25 years) who had completed their entire school journey in general education settings. This study utilised in-depth interviews and a visual technique called the ‘Blob Tree’ to elicit their stories. The findings indicated that during primary school, participants felt overwhelmed and confused by the school environment. The transition to middle school, where they received an autism diagnosis, marked a period of significant instability, social insecurity and loneliness. Interestingly, the participants gained confidence during high school, accepted their autism and developed a more positive self-image. These findings emphasise the importance of learning the longitudinal self-perspective of autistic individuals through creative methods like the ‘Blob Tree’ technique. Furthermore, the study highlights the crucial role of effective support services during school transitions, particularly from experts in inclusive education. It underscores the need to create environments within general schools that are more inclusive to support autistic students better.

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