Pubmed du 02/11/25
1. Alehagen L, Hasslinger J, Black MH, Wessman E, Bölte S. Psychometric properties of the operationalized ICF Core Sets for autism and ADHD: item metrics, reliability, and validity. Disabil Rehabil. 2025: 1-28.
PURPOSE: The WHO’s International Classification of Functioning, Disability and Health (ICF) provides a biopsychosocial perspective on health-related functioning, highly relevant for conditions like autism and ADHD. Despite the ICF’s many benefits, including providing a holistic assessment of individual challenges and resources, its widespread use has been prevented by its complexity, lack of operationalization, and limited specificity for certain diagnoses. To improve usability and implementation of the ICF, diagnosis-specific ICF Core Sets have been developed, revised, operationalized, and integrated on a digital platform. This psychometric study evaluates the self-and proxy-report versions of the Core Set operationalization. MATERIALS AND METHODS: This is a cross-sectional study drawing on data collected from individuals diagnosed with autism (n = 54), ADHD (n = 41), autism and ADHD (n = 42), and general population samples (n = 174), as well as 71 paired assessments. RESULTS: Depending on ICF domain, inter-rater reliability and internal consistency was moderate to high. The Core Sets’ ability to distinguish between neurodivergent and general population groups, and the functioning profiles within groups, indicate diagnostic and construct validity. CONCLUSIONS: Findings add psychometric evidence to previous results on feasibility and further endorse the adequacy of the Core Sets operationalization for use in basic and applied autism and ADHD science. Autism and attention deficit-hyperactivity disorder (ADHD) are neurodevelopmental conditions that affect various aspects of functioning; standardized, comprehensive assessments are essential for identifying support needs and guiding clinical practice and research.The ICF CoreSets platform enables structured, person-centered assessment of functioning in autistic individuals and those with ADHD, supporting tailored intervention planning.Psychometric evaluation supports the reliability and validity of the ICF CoreSets platform, reinforcing its clinical utility in clinical contexts.The ICF CoreSets platform can facilitate interdisciplinary collaboration and progress monitoring by providing a standardized framework aligned with WHO’s biopsychosocial model. eng.
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2. Álvarez-Couto M, García-Villamisar D. Beyond diagnosis: Are there predictor variables of ADHD in adults with ASD and moderate to severe intellectual disability levels?. Acta Psychol (Amst). 2025; 261: 105877.
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is a common comorbidity in individuals with autism spectrum disorder (ASD), yet the manifestation and diagnosis of ADHD in adults with ASD and severe intellectual disability (ID) remain under-researched. This research aims to identify transdiagnostic variables that may indicate the presence of ADHD in a population in which additional diagnoses can be complicated due to communication constraints. METHODS AND PROCEDURES: The study involved 83 adults with dual diagnoses of ASD and ID, and a test battery was used to assess different variables: Conners’ Adult ADHD Rating Scales-Observer Report: Screening Version; Adult Executive Functioning Inventory; Emotion Regulation Checklist. According to the score considered in the Conners’ scale (>70), 26.5 % of the sample met the criteria for suspecting an ADHD diagnosis. OUTCOMES AND RESULTS: The findings suggest that higher levels of executive dysfunction and emotional dysregulation are predictive of a clinically relevant level of ADHD symptoms in adults with ASD and severe ID. The research contributes to a deeper understanding of ADHD in a population with complex diagnostic challenges, providing valuable insights for more accurate diagnoses and targeted interventions. CONCLUSIONS AND IMPLICATIONS: The study highlights the importance of considering executive and emotional functioning when assessing for ADHD in adults with ASD and ID and suggests that these variables may serve as key indicators for identifying and intervening in comorbid ADHD in this population.
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3. Crespi BJ. Evaluating evidence for convergence between autism and schizophrenia. Mol Psychiatry. 2025; 30(12): 6066-7.
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4. Lopez Valencia M, Velázquez Aponte RA, Baur JA, Jongens TA, Sehgal A. Sleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations. Hum Mol Genet. 2025; 34(22): 1874-83.
Fragile X Syndrome is the most prevalent known genetic cause of intellectual disability (ID), affecting around 1 in 4 000 individuals, and is also highly associated with autism spectrum disorder (ASD). Humans with the disorder and animal models display sleep and metabolic abnormalities. Given growing evidence of links between sleep and metabolism, we sought to determine if metabolic abnormalities underlie sleep deficits in mice lacking the Fragile X messenger ribonucleoprotein 1 (FMR1) gene. We found that metformin, a drug that targets metabolic pathways and has been shown to alleviate other symptoms in FXS, did not rescue sleep in mutant mice. Instead, metformin enhanced activity of Fmr1 knockout (KO) mice. As a way of exaggerating possible metabolic phenotypes, we treated mice with a high fat diet (HFD) and found that although this disrupted the sleep pattern in controls, it did not impact the sleep phenotype in Fmr1 KOs. Increased sleep during the dark phase, caused by HFD in wild type animals, was alleviated by metformin treatment. Metformin also decreased weight gain of wild type animals on a HFD, but the effect was delayed in Fmr1 KO mice. Fmr1 KO mice with or without metformin treatment displayed hyperphagia on a HFD, yet did not show higher weight gain than wild type. And, surprisingly, their glucose tolerance was equivalent to that of wild type mice on metformin. We suggest that Fmr1 KO mice are better able to metabolize fat and so are relatively resistant to its negative effects on sleep and metabolism.
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5. Lv X, Tian P, Zhu X, Bian B, Liu Z, Zhao T, Dou L, Jie Y, Jia F, Li D. Alterations in white matter connectivity of the dorsal and ventral language pathways in children with autism spectrum disorder. Psychiatry Res. 2025; 354: 116801.
PURPOSE: Language difficulties are prevalent in individuals with autism spectrum disorder (ASD). The present study aimed to investigate differences in white matter connectivity of the dorsal and ventral language pathways between children with ASD and typically developing (TD) children, utilizing diffusional kurtosis imaging (DKI), with the goal of exploring neurobiological mechanisms underlying language dysfunction in autism. METHODS: The study included 60 children with ASD and 60 age-matched TD controls. Participants were categorized into two subgroups based on age to assess developmental modulation effects: early childhood (24 ≤ months < 60) and late childhood (60 ≤ months < 96). Clinical symptoms were assessed using Griffiths Development Scales-Chinese Edition (GDS-C) and Autism Behavior Checklist (ABC) scales. RESULTS: ASD children exhibited significantly reduced connectivity in the bilateral inferior longitudinal fasciculus (ILF), right inferior fronto-occipital fasciculus (IFOF), and right superior longitudinal fasciculus (SLF). In the ASD group and ASD early childhood subgroup, kurtosis fractional anisotropy (KFA) in the bilateral ILF were positively correlated with the GDS-C language subscale scores, while KFA in the right IFOF and SLF were negatively correlated with the ABC language subscale scores. No significant correlations were found in the ASD late childhood subgroup. CONCLUSION: The findings suggest that reduced connectivity in the dorsal and ventral language pathways may represent a key neurological mechanism underlying language difficulties in ASD. Furthermore, younger children with ASD may exhibit more pronounced language difficulties and white matter alterations compared to older children with ASD.
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6. Mäkinen L, Loukusa S. Narrative language in autistic and control children: Differences between story retelling and story generation and associations to socio-pragmatic inferencing. J Commun Disord. 2025; 118: 106591.
INTRODUCTION: Narrative language, Theory of Mind (ToM), and contextual inferencing are subcomponents of social communication that is a vulnerable area in autism. However, few studies have explored the connection between different aspects of social communication. METHODS: This study assessed autistic (n = 14, mean age 7;2 years) and control children’s (n = 26, mean age 6;9 years) narrative productions in two conditions (story retelling and story generation), and explored their associations to socio-pragmatic inferencing (contextual inferencing with ToM demands and false belief reasoning). RESULTS: There were no significant differences between the autistic and control children’s narratives, but within-group differences were detected. Autistic children showed similar performance across two different narrative conditions, but control children differed in the amount of expressed story content, mental state language and non-narrator speech between the tasks. Narrative production and socio-pragmatic inferencing were connected, but these skills are related differently in the autistic and control children. CONCLUSIONS: The connections between different components of social communication are most likely multidimensional and complex. However, as there are some associations between the skills, also narrative intervention might support socio-pragmatic inferencing or vice versa. It is important to gain a deeper understanding of the complex nature of social communication and its various aspects to support possible challenges that individuals may face while navigating in a social world.
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7. Singh J, Wilkins G, Manginas A, Chishti S, Fiori F, Sharma GD, Shetty J, Santosh P. A Systematic Review of Wearable Sensors in Rett Syndrome-What Physiological Markers Are Informative for Monitoring Disease States?. Sensors (Basel). 2025; 25(21).
Rett syndrome (RTT) presents with a wide range of symptoms spanning various clinical areas. Capturing symptom change as the disorder progresses is challenging. Wearable sensors offer a non-invasive and objective means of monitoring disease states in neurodevelopmental disorders. The goal of this study was to conduct a systematic literature review to critically appraise the literature on the use of wearable sensors in individuals with RTT. The PRISMA criteria were used to search four databases without time restriction and identified 226 records. After removing duplicates, the titles and abstracts of 184 records were screened, 147 were excluded, and 37 were assessed for eligibility. Ten (10) articles remained, and a further two were included after additional searching. In total, 12 articles were included in the final analysis. The sample size ranged from 7 to 47 subjects with an age range of 1 to 41 years. Different wearable biosensor devices were used across studies, with the Empatica E4 wearable device being most frequently used in 33% (4/12) of the studies. All the studies demonstrated a high methodological quality with a low risk of bias. Evidence from wearable sensors, combined with machine learning methods, enabled the prediction of different sleep patterns and clinical severity in RTT. Given the small sample size and the limitations of available data for training machine learning models, we highlight areas for consideration. The review emphasises the need to enhance research on the application of wearable sensors in epilepsy and gastrointestinal manifestations/morbidity in RTT. Increased electrodermal activity (EDA), % of maximum heart rate (HRmax%) and the heart rate to low-frequency power (HR/LF) ratio were identified as physiological measures potentially associated with disease states. Based on the evidence synthesis, the role of physiological parameters and their association with symptom management in RTT is discussed.
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8. Turfa M, Rida A, Siblany Y, Ramadan F, Madhoun Y, Mohammed A, Turfa M, Wehbe D, Zaylaa M. Autism spectrum disorder knowledge among kindergarten teachers in Lebanon: a cross-sectional survey. BMJ Paediatr Open. 2025; 9(1).
BACKGROUND: Autism spectrum disorder (ASD) is defined by persistent social communication difficulties and restricted, repetitive behaviours. Its increasing prevalence heightens the demand for earlier diagnosis and intervention. ASD can be diagnosed between 18 and 24 months, the typical kindergarten entry age, highlighting the vital role of kindergarten teachers in early detection. In Lebanon, the economic crisis has increased the demand for kindergarten services as both parents are working. This study aims to assess the knowledge of kindergarten teachers in Lebanon about ASD, emphasising their role in early detection and intervention referral. METHODS: A descriptive cross-sectional study was conducted between June 2023 and January 2024 using convenience sampling. Data were collected through a survey administered to 355 kindergarten teachers from all Lebanese governorates. The questionnaire assessed participants’ sociodemographic characteristics, perceived knowledge of ASD and included the validated Autism Spectrum Knowledge Scale-General. RESULTS: Responses were obtained from 355 kindergarten teachers, aged 18 to 50 years, representing 57 kindergartens. Overall, Lebanese kindergarten teachers demonstrated moderate knowledge of ASD, with a mean score of 17.7/32 (55.3%). The level of knowledge regarding the symptoms and associated behaviours, assessment and diagnosis, treatment, outcomes and prognosis of the disease was moderate (59.9%, 58.2%, 54.3% and 52%, respectively). The lowest scores were observed in items related to the aetiology and prevalence of ASD (48.3%). Moreover, areas of residence, years of experience, sources of information and prior interactions with children with ASD were all statistically significant predictors of ASD knowledge (p=0.046, p=0.002, p=0.043 and p<0.001, respectively). Multivariate linear regression revealed that area of residence (p=0.009) and prior interaction with children with ASD (p<0.001) were significantly associated with knowledge scores. CONCLUSIONS: Many teachers are unfamiliar with ASD and its implications for children, yet it is crucial to raise awareness of ASD and incorporate it into educational curricula.
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9. Walpert DM. Autism, dementia and community nursing. Br J Community Nurs. 2025; 30(11): 501-2.