Pubmed du 05/02/25

Pubmed du jour

1. Bruno G, Lindblom A, Masternes JA, Tupou J, Waisman TC, Toby S, Vining C, Magiati I. Global Indigenous perspectives on autism and autism research: Colonialism, cultural insights and ways forward. Autism;2025 (Feb 4):13623613251318399.

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2. Eghan K, Lee S, Yoo D, Kim WK. 2-Ethylhexanol induces autism-like neurobehavior and neurodevelopmental disorders in zebrafish. J Hazard Mater;2025 (Feb 1);488:137469.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by impaired social interaction, communication deficits, and repetitive behaviors. The rising prevalence of ASD necessitates intensified research. 2-Ethylhexanol, is a synthetically produced branched-chain alcohol used in plasticizer synthesis. However, its role in ASD-like symptoms and potential neurotoxic effects remains largely unexplored. This study employed a multimodal neurotoxicity testing approach to evaluate the adverse effects of 2-ethylhexanol on zebrafish neurobehavior and neurodevelopment. Wild-type and transgenic zebrafish lines (tg(elavl3: eGFP) and tg(mbp:mGFP)) were exposed to 2-ethylhexanol for 120 hours post-fertilization (hpf). Significant disruptions were observed in early motor activities, such as tail coiling and touch-evoked responses, which aligned with later locomotor impairments, including reduced distance traveled and increased turn angle. These behavioral changes were accompanied by decreased levels of acetylcholinesterase (AChE) and dopamine (DA). Deficits in social behavior (e.g., reduced body contact) were identified, potentially linked to altered transcription of autism-associated genes (adsl, eif4a1, mbd5, vps13b, and tsc1b). Abnormalities in neurogenesis, including reduced brain and spinal cord size, and demyelination of oligodendrocytes and Schwann cells, were evident. Additionally, transcriptional changes related to neurodevelopment (gap43, manf, sox2) and neurotransmitter signaling (drd1, mao, htr1bd) were observed. Our findings provide compelling evidence that 2-ethylhexanol exposure leads to neurodevelopmental impairments and behavioral alterations reminiscent of ASD. This research highlights the importance of further investigations to assess the potential risks of 2-ethylhexanol exposure and develop prevention and mitigation strategies.

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3. Good AP, Horn E. Unlocking autism’s complexity: the Move Initiative’s path to comprehensive motor function analysis. Front Integr Neurosci;2024;18:1496165.

The long-standing practice of using manualized inventories and observational assessments to diagnose and track motor function in autism overlooks critical data invisible to the naked eye. This subjective approach can introduce biases and hinder the translation of research into clinical applications that rely on objective markers of brain-body connections. Meanwhile, we are experiencing a digital healthcare revolution, marked by innovations in the collection and analysis of electronic health records, personal genomes, and diverse physiological measurements. Advanced technologies, including current wearable devices, integrate both active and passive (sensor-based) data collection, providing a more comprehensive view of human health. Despite advances in sensors, wearables, algorithms, machine learning, and agentic AI, autism research remains siloed, with many tools inaccessible to affected families and care teams. There is a pressing need to merge these technological advances and expedite their translation into accessible, scalable tools and solutions to diversify scientific understanding. In response, this Perspective introduces the Move Initiative, a coalition spearheaded by the nonprofit 2 m Foundation, composed of self-advocates, families, clinicians, researchers, entrepreneurs, and investors who aim to advance and refine the measurement of movement in autism. Move will make motor screenings more dynamic and longitudinal while supporting continuous assessment of targeted interventions. By fostering cross-disciplinary collaboration, Move seeks to accelerate the integration of the expanding knowledge base into widespread practice. Deep, longitudinal, multi-modal profiling of individuals with Autism Spectrum Disorder offers an opportunity to address gaps in current data and methods, enabling new avenues of inquiry and a more comprehensive understanding of this complex, heterogeneous condition.

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4. Hosseini SJ, Ramezani M, Ashrafzadeh F, Jamali J. Exploring Caring Motivation Barriers among Mothers of Children with Intellectual and Developmental Disabilities: A Qualitative Content Analysis. Int J Community Based Nurs Midwifery;2025 (Jan);13(1):77-89.

BACKGROUND: Caring a child with intellectual and developmental disabilities (IDDs) presents numerous challenges that can impact the mothers’ caring motivation. This study aimed to explore the caring motivation barriers among mothers of children with IDDs. METHODS: This qualitative content analysis study was conducted from July 2023 to March 2024. Twenty-six mothers of children with IDDs were purposefully selected to participate in face-to-face semi-structured interviews. Data collection continued until saturation was achieved. Data analysis was conducted using Mayring’s inductive approach within MAXQDA version 20. We utilized Lincoln and Guba’s criteria for ensuring rigor. RESULTS: The mean ages of the mothers and children were 40.34±7.44 years and 9.38±4.33 years, respectively. The analysis identified several main categories and 15 subcategories: (I) Mother’s insufficient readiness: low level of competency, decreased maternal strength with child’s advancing age, caregiving fatigue, complex health problems, and incompatibility with the child’s disability; (II) Perceived lack of support for the mother in caregiving: insufficient family support, inadequate social support, deficient healthcare provider support, lack of spiritual support, and insufficient financial support; and (III) Encountering caring complexity: disappointment with the child’s recovery, challenges in providing optimal rehabilitation, multiple physical problems in the child, unintentional behaviors in the child, and priority of personal goals over the care. CONCLUSION: The motivation of mothers to care for children with IDDs is influenced by a range of challenges. Future research should take these barriers into account to enhance maternal caregiving motivation. To modify the identified obstacles, a comprehensive plan of actions should be devised.

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5. Katikar MS, Devi A, Prabhu P. Sensory processing in Autism Spectrum Disorder: Insights into misophonia, and hyperacusis in a pediatric population. Int J Pediatr Otorhinolaryngol;2025 (Jan 27);189:112241.

OBJECTIVE: This study aims to investigate the prevalence of misophonia and hyperacusis in children with Autism Spectrum Disorder (ASD), focusing on gender differences and sensory processing challenges. The research further explores how these sensory sensitivities impact daily functioning and how they may differ across genders in a pediatric population. METHODS: A total of 60 children aged 2-12 years, diagnosed with ASD, intellectual disability, borderline intellectual functioning, or co-occurring ADHD, participated in the study. Parental consent was obtained, and parents completed the Misophonia Impact and Hyperacusis Impact Questionnaires, which assess the presence and severity of sound sensitivities. Data analysis included frequency distributions and Spearman’s rank correlation to examine potential associations between age and the severity of sensory symptoms. RESULTS: The study found that 45 % of participants exhibited misophonia, and 38 % showed signs of hyperacusis. A slightly higher prevalence of misophonia and hyperacusis was observed in female participants (50 % and 43 %, respectively) compared to males (43 % and 37 %, respectively). No significant correlation was found between the age of participants and the severity of misophonia (r = 0.22, p > 0.05) or hyperacusis (r = 0.19, p > 0.05). CONCLUSIONS: Misophonia and hyperacusis are prevalent sensory challenges among children with ASD, with a slightly higher occurrence in females. These findings suggest that sensory sensitivities persist across developmental stages and may be more pronounced in females. Early identification and gender-sensitive, sensory-focused interventions are critical for improving the quality of life and daily functioning of children with ASD. Future research should explore the underlying mechanisms of these sensory sensitivities to enhance intervention strategies across diverse populations.

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6. Le H, Bonthrone AF, Uus A, Fenchel D, Lautarescu A, Dimitrakopoulou K, Edwards AD, Hajnal JV, Counsell SJ, Cordero-Grande L, Christiaens D, Batalle D, Pietsch M, Price AN, Patel H, Curtis C, Cullen H, Deprez M, Tournier JD. Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connectome project. Transl Psychiatry;2025 (Feb 4);15(1):40.

Increasing lines of evidence suggest white matter (WM) structural changes associated with autism can be detected in the first year of life. Despite the condition having high heritability, the relationship between autism common genetic variants and WM changes during this period remains unclear. By employing advanced regional and whole-brain fixel-based analysis, the current study investigated the association between autism polygenic scores (PS) and WM microscopic fibre density and macrostructural morphology in 221 term-born infants of European ancestry from the developing Human Connectome Project. The results suggest greater tract mean fibre-bundle cross-section of the left superior corona radiata is associated with higher autism PS. Subsequent exploratory enrichment analysis revealed that the autism risk single nucleotide polymorphisms most associated with the imaging phenotype may have roles in neuronal cellular components. Together, these findings suggest a possible link between autism common variants and early WM development.

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7. Patnana AK, Chaudhry K, Dhawan A, Duraisamy AK, Rathore K, Kumar P. Effectiveness of Oral Health Rehabilitation Under General Anaesthesia on Oral Health-Related Quality of Life in Children with Intellectual and Developmental Disabilities – A Prospective Study. Indian J Dent Res;2025 (Feb 5)

CONTEXT/BACKGROUND: Children with intellectual and developmental disabilities may have compromised oral health and require oral health rehabilitation under general anaesthesia. AIM: The present study aimed to evaluate the changes observed in the Child Oral Health Impact Profile (COHIP-14) and Family Impact scores (FIS-12) of children with severe behavioural disabilities and medically compromised conditions after oral health rehabilitation (OHR) under general anaesthesia (GA). MATERIALS AND METHODS: Children with severe behavioural disabilities and medically compromised conditions were recruited, and OHR was done under GA. Teeth with fair prognosis were functionally restored, and teeth with poor prognosis were extracted after parents’/caregivers’ informed consent. Pre-operative and post-operative COHIP-14 and FIS-12 questionnaires were filled out by the parents/caregivers. The pre-operative and post-operative values were compared with those of the Student t-test. RESULTS: All responses for the COHIP-14 and FIS -14 had shown significant (P ≤ 0.001) change after OHR under GA. CONCLUSION: The oral and functional health of children with severe behavioural disabilities was improved after OHR under general anaesthesia. The family impact score was also improved in terms of activity and emotions; further financial concerns of the family were also reduced after OHR under GA.

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8. Puto G, Wadelska-Kaczmarek A, Muszalik M. A Psychometric Analysis of the Polish Online Version of the Aging Semantic Differential Scale (ASD). J Multidiscip Healthc;2025;18:549-561.

BACKGROUND: Nursing students will become professionals providing direct care to an aging population in the future. Given that students’ attitudes evolve during their studies, an important element of medical education should be addressing the issue of ageism, verifying false beliefs, promoting the subjectivity as well as individuality of older people in the education process. The aim of the study was to analyse the psychometrics of the Polish online version of the Aging Semantic Differential Scale (ASD). METHODS: The study was conducted among 384 students of bachelor’s and master’s degree studies in nursing (94.3%) and other medical disciplines: midwifery and emergency medical services (5.7%). Theoretical validity of the scale was assessed using principal component analysis (PCA) with Oblimin rotation with delta parameter equal to 0 and Kaiser normalization. Discriminant validity of the obtained factors was calculated using the AVE (Average Shared Squared Variance) and MSV (Maximum Shared Squared Variance) parameters. Reliability of the scale was assessed by determining the internal consistency using Cronbach’s Alpha coefficient. RESULTS: A four-factor model was extracted from the analysis. The validity of the analysis was confirmed by the KMO value = 0.88 and a significant statistical result for Bartlett’s sphericity test: χ(2)(171) = 2601.34; p < 0.001. The model explained 56.20% of the variance in total. The reliability level of each factor reached a satisfactory level (α > 0.7). Factor loadings ranged from 0.57-0.81 for the first factor (Independence), 0.50-0.76 for the second factor (Consistency), -0.54 to -0.77 for the third factor (Attitude towards others), and -0.66 to 0.80 for the fourth factor (Charisma). CONCLUSION: The study contributes to the cross-cultural validation of the ASD scale. We obtained a shorter version than the original ASD scale through statistical calculations. The shorter version of the ASD scale is easier and faster to administer. The scale can be reliably used by researchers and practitioners in disciplines other than nursing.

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9. Tseng CJ, Guma E, McDougle CJ, Hooker JM, Zürcher NR. Regional skull translocator protein elevation in autistic adults detected by PET-MRI. Brain Behav Immun;2025 (Feb 2)

Immune processes have been implicated in the pathophysiology of autism spectrum disorder (ASD). Brain borders, such as the skull, have recently been highlighted as sites where neuro-immune interactions occur with key consequences for brain immunity. Translocator protein (TSPO), a mitochondrial protein involved in immune functions, was measured in the skull using [(11)C]PBR28 positron emission tomography-magnetic resonance imaging (PET-MRI) in 38 autistic adults (26 males, 12 females) and 29 age-and sex-matched healthy controls (19 males, 10 females). [(11)C]PBR28 uptake relative to a pseudo-reference region assessed using standardized uptake value ratio (SUVR) revealed elevated TSPO in autistic adults in frontal and temporal skull. We did not observe an association between [(11)C]PBR28 uptake in total or regional skull areas and autism symptom severity. C-reactive protein levels were positively associated with [(11)C]PBR28 uptake in the total skull across participants. Lastly, [(11)C]PBR28 uptake in the total skull was stable across a 4-month period. This work indicates regional TSPO elevations in the skull in autistic adults, which may suggest immune involvement.

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10. Verbecque E, Johnson C, Scaccabarozzi G, Molteni M, Klingels K, Crippa A. Motor difficulties in children with neurodevelopmental conditions: a report from a cross-national study in Belgian and Italian children. Eur J Pediatr;2025 (Feb 4);184(2):174.

Motor behavior alterations are common in neurodevelopmental disorders (NDDs), including autism, developmental coordination disorder (DCD), and attention deficit hyperactivity disorder (ADHD), but the extent of motor impairment remains unclear. In autism and ADHD, motor difficulties may be linked to co-occurring DCD, which often goes unrecognized. We aimed to map the prevalence of DCD in autism and ADHD, and to explore motor skill difficulties using the Movement Assessment Battery for Children-2 (MABC-2), by comparing children with typical motor development (TMD) with those who have NDDs, and by identifying specific profiles among NDDs. A combined sample of participants (n = 215), including autistic children with(out) intellectual disability (ID) and children with ADHD, DCD, and TMD, performed the MABC-2. Depending on co-occurring DCD/ID, subgroups were composed: autism-only (n = 17), autism + ID (n = 17), autism + DCD (n = 40), ADHD-only (n = 14), ADHD + DCD (n = 12), DCD (n = 25), and TMD (n = 59). MABC-2 differences between TMD/NDDs (Mann-Whitney U test) and among NDDs (Kruskal-Wallis test) were assessed. DCD occurred in 70.2% of the autistic children without ID and in 46.2% of those with ADHD. Children with NDDs performed significantly worse than the TMD (p < 0.001). Manual dexterity skills, aiming and catching, and balance were significantly different across the NDD subgroups (p ≤ 0.001). Particularly children with ( +)DCD and autism + ID performed worse on manual dexterity skills. Children with ( +)DCD were outperformed on aiming and catching. All subgroups, except the ADHD-only group, performed poorly on balance. CONCLUSION: Distinct motor difficulties were identified across various NDDs. Children with co-occurring ID or DCD exhibit unique challenges, stressing the importance of motor profile subgrouping. WHAT IS KNOWN: • Despite the common occurrence of motor behavior in neurodevelopmental disorders, the extent of motor impairment remains unclear. • Motor difficulties in autism and ADHD may be linked to co-occurring DCD, which often goes unrecognized. WHAT IS NEW: • DCD occurred in 70% of the autistic children without ID and in 46% of those with ADHD. • Children with co-occurring ID or DCD exhibit unique challenges, stressing the importance of motor profile subgrouping.

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11. Yoo EM. Exploring the increased prevalence of autism in the fee-for-service Medicare population with open data, 2007 to 2018. Disabil Health J;2025 (Jan 13):101776.

BACKGROUND: The Autism and Developmental Disabilities Monitoring (ADDM) Network continues to report increases in the percentage of U.S. children identified with autism spectrum disorder (ASD). Few studies, however, have examined prevalence among U.S. adults. OBJECTIVE: To use open data on ASD prevalence among fee-for-service Medicare beneficiaries, considering trends in the context of sociodemographic factors and dual enrollment in Medicaid. METHODS: Administrative prevalence estimates from the Centers for Medicare and Medicaid Services (CMS) were used to explore changes in ASD prevalence among fee-for-service Medicare beneficiaries. These rates were compared with corresponding childhood prevalence estimates from the ADDM Network. RESULTS: In 2018, there were 87,108 fee-for-service Medicare beneficiaries with autism diagnoses, representing a 236.1% increase from 2008. For 8-year-old children in the ADDM Network, the 2008-2018 change was 32.41%. National ASD prevalence increased in the fee-for-service Medicare population every year from 2007 through 2018, most substantially for beneficiaries under the age of 65. While only 10 states had a prevalence at or above 1 in 1000 beneficiaries in 2007, 48 states and the District of Columbia had a prevalence above that value in 2018. Prevalence in the Medicare population also increased from 2016 to 2018, a period in which program enrollment declined. CONCLUSIONS: Even more so than among children, autism prevalence increased in the fee-for-service Medicare population from 2007 through 2018. While geographic and sociodemographic differences in ASD identification existed, prevalence grew across states and most subgroups. Further research is needed to address questions involving the identification and support of autistic adults.

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