Pubmed du 10/02/25
1. Akram M, Naqvi S, Jameel N. Relationship between children’s autism spectrum disorder and parental anxiety and burnout. Pak J Med Sci;2025 (Feb);41(2):366-371.
OBJECTIVE: To determine the association between children’s autism spectrum disorder with parental anxiety and burnout in Karachi, Pakistan. METHODS: A cross-sectional study was conducted at Baqai Institute of Health Sciences, Baqai Medical University from December 2022, to November, 2023. Data collection was performed at three rehabilitation centers for autistic children in Karachi. The study population consisted of parents of autistic children. GAD-7 and Parental Burnout Assessment scales were used to assess the anxiety and burnout level among parents. Data were analyzed using SPSS version 21. RESULTS: The study results showed that 49 (24.5%) parents had moderate anxiety while 38 (19.0%) had severe anxiety. Besides, 36 (18.0%) of them were at risk of burnout while 8 (4.0%) were diagnosed with burnout. Furthermore, gender of child (p=0.01), father’s age (p=0.015) and type of family (p=0.001) were significantly associated with the anxiety level whereas father’s age (p=0.036), father’s education (p=0.006) and type of family (p=0.046) were significantly associated with the burnout level of the parents. CONCLUSION: This study results showed significant association of certain child and parental characteristics such as child’s gender, father’s age and type of family with parental anxiety level and of father’s age, father’s education and type of family with parental burnout.
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2. Anderson SJ. Editorial: Precision in Autism Interventions: Promise of Brief Observation of Social Communication Change. J Am Acad Child Adolesc Psychiatry;2025 (Feb 4)
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3. Backman A, Roll-Pettersson L, Mellblom A, Norman-Claesson E, Sundqvist E, Zander E, Vigerland S, Hirvikoski T. Correction: Internet-Delivered Psychoeducation (SCOPE) for Transition-Aged Autistic Youth: Pragmatic Randomized Controlled Trial. J Med Internet Res;2025 (Feb 10);27:e72209.
[This corrects the article DOI: 10.2196/49305.].
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4. de Carvalho LM, Carvalho VMA, Camargo AP, Papes F. Gene network analysis identifies dysregulated pathways in an autism spectrum disorder caused by mutations in Transcription Factor 4. Sci Rep;2025 (Feb 10);15(1):4993.
Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental monogenic disorder in the autistic spectrum caused by mutations in the Transcription Factor 4 gene. Even though the genetic etiology is known, the molecular mechanisms underlying PTHS remain poorly understood. To gain insight into the disease’s pathophysiology, we set out to identify genes and pathways putatively involved in the pathology through co-expression and gene hub analyses using transcriptomic data from neural progenitor cells, neurons, and brain organoids derived from PTHS patients. Our results revealed several groups of co-expressed genes that are differentially regulated in PTHS neural cells compared to controls. These groups were enriched for genes involved in neural development and function, including synaptic transmission, membrane excitability, and cell adhesion. We identified several hub genes (highly connected nodes within gene networks that are central in these modules), including some that encode proteins involved in histone modification, synaptic vesicle trafficking, and cell signaling. Furthermore, we found that the differential expression of hub genes in PTHS neural cells was associated with altered cellular processes linked to neurodevelopment, such as cell-cell communication and irregular synaptic networks. Notably, we identified a set of hub genes related to the histone gene family, which is associated with neuronal differentiation and may contribute to PTHS pathogenesis and potentially serve as a biomarker for disease prognosis. Our results support the notion that PTHS involves alterations in neural development and function, particularly in excitatory neurons. The groups of co-expressed genes and hub genes we identified provide new insights into the molecular mechanisms underlying PTHS pathogenesis and could potentially be targeted for therapeutic intervention.
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5. Droscha LJ, Chung S, Li-Khan Z, Scott A, Rubenstein E. Perception of four intellectual and developmental disabilities based on search engine and news portrayal. PLoS One;2025;20(2):e0316928.
BACKGROUND: For people with intellectual and developmental disabilities, other’s perceptions of them based on their condition often begin before birth and go on to impact relationships, opportunities, and self perception across the life course. Search engine results and news media, which may portray these conditions stereotypically or in poor light, are often a key source in these perceptions. Our purpose was to understand how search engine results and available news media can shape perceptions on certain intellectual and developmental disabilities. METHODS: We developed an online Likert-scale survey to measure differences in perceptions based off first available search engine results, images, and news headlines of four intellectual and developmental disabilities: cerebral palsy, Down syndrome, Prader-Willi syndrome, and Angelman syndrome. These four conditions were selected to compare less prevalent (Prader-Willi and Angelman) and more prevalent conditions (Down syndrome and cerebral palsy). Perception questions addressed general impression and aspects of the disability experience expected to be impacted by perception from others. We recruited via multiple social media platforms, flyers posted in the Boston area, and word of mouth to local communities and friends. FINDINGS: 229 individuals opened the survey, and 125 responses were used in analysis. Mean responses to Prader-Willi syndrome were significantly more negative than responses to cerebral palsy, Down syndrome, and Angelman syndrome across all variables. Responses to Angelman syndrome were also more negative than responses to Down syndrome. Significant differences between conditions found when treating the data as continuous were confirmed when treating the data as ordinal. CONCLUSION: Lesser-known intellectual and developmental disabilities, such as Prader-Willi syndrome and Angelman syndrome, are subject to more negative portrayal in media, leading to more negative perception, which may impact social opportunity and quality of life. Combined with our finding that the perception of Prader-Willi syndrome follows the ideals of the medical model of disability more closely than the social model, a need for social model of disability training and education for physicians and other medical providers is clear.
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6. Fisher MJ, Graff JC, Hill C, LaMothe J, Nelson SR, Kent KA, Betz CL. Innovating Nursing Education Through Partnership With Individuals With Intellectual and Developmental Disabilities. J Nurs Educ;2025 (Feb);64(2):75-80.
BACKGROUND: Health disparities of individuals with intellectual and developmental disabilities (IDD) have been a longstanding public health concern. Unlike the engagement of service sectors and governmental entities in advocating for human rights and health equity, the nursing profession remains absent from these discussions. Transformational changes are needed to promote systemic changes that will improve health outcomes of individuals with IDD. METHOD: Strategic planning is needed to effect transformational changes in nursing education. Innovation in nursing education involves an informed understanding of health care barriers that individuals with IDD experience and the necessary processes to effectively engage in partnerships with this population. RESULTS: An approach for change in nursing education is proposed based on IDD concepts in federal legislation and initiatives, social policies, and the self-advocacy movement, and its application in nursing education is described. CONCLUSION: Integrating IDD concepts into nursing curricula can improve health care equity and health outcomes of individuals with IDD. [J Nurs Educ. 2025;64(2):75-80.].
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7. Hao Y, Banker S, Trayvick J, Barkley S, Peters AW, Thinakaran A, McLaughlin C, Gu X, Schiller D, Foss-Feig J. Understanding depression in autism: the role of subjective perception and anterior cingulate cortex volume. Mol Autism;2025 (Feb 10);16(1):9.
BACKGROUND: The prevalence of depression is elevated in individuals with autism spectrum disorder (ASD) compared to the general population, yet the reasons for this disparity remain unclear. While social deficits central to ASD may contribute to depression, it is uncertain whether social interaction behavior themselves or individuals’ introspection about their social behaviors are more impactful. Although the anterior cingulate cortex (ACC) is frequently implicated in ASD, depression, and social functioning, it is unknown if it explains differences between ASD adults with and without co-occurring depression. METHODS: The present study contrasted observed vs. subjective perception of autism symptoms and social interaction assessed with both standardized measures and a lab task, in 65 sex-balanced (52.24% male) autistic young adults. We also quantified ACC and amygdala volume with 7-Tesla structural neuroimaging to examine correlations with self-reported depression and social functioning. RESULTS: We found that ASD individuals with self-reported depression exhibited differences in subjective evaluations including heightened self-awareness of ASD symptoms, lower subjective satisfaction with social relations, and less perceived affiliation during the social interaction task, yet no differences in corresponding observed measures, compared to those without depression. Larger ACC volume was related to depression, greater self-awareness of ASD symptoms, and worse subjective satisfaction with social relations. In contrast, amygdala volume, despite its association with clinician-rated ASD symptoms, was not related to depression. LIMITATIONS: Due to the cross-sectional nature of our study, we cannot determine the directionality of the observed relationships. Additionally, we included only individuals with an IQ over 60 to ensure participants could complete the social task. We also utilized self-reported depression indices instead of clinically diagnosed depression, which may limit the comprehensiveness of the findings. CONCLUSIONS: Our approach highlights the unique role of subjective perception of autism symptoms and social interactions, beyond the observable manifestation of social impairment in ASD, in contributing to self-reported depression, with the ACC playing a crucial role. These findings imply possible heterogeneity of ASD concerning co-occurring depression. Using neuroimaging, we were able to demarcate depressive phenotypes co-occurring alongside autistic phenotypes.
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8. Hendry A, Bedford R, Agyapong M, Begum Ali J, Bazelmans T, Ersoy M, Goodwin A, Mason L, Narvekar N, Pasco G, Johnson MH, Jones EJH, Charman T. Simple Executive Function as an endophenotype of autism-ADHD, and differing associations between simple versus complex Executive Functions and autism/ADHD traits. Sci Rep;2025 (Feb 10);15(1):4925.
Autism and ADHD are associated with difficulties with Executive Functions (EFs), but the prevalence and nature of these difficulties in early development is not well understood. In this longitudinal study, 107 children with a family history of autism and/or ADHD (FH-autism/ADHD), and 24 children with No-FH-autism/ADHD completed multiple EF tasks (5 at age 2 years, 7 at age 3 years). Parents reported on their child’s autism- (Q-CHAT at age 2, SRS-2 at age 3), and ADHD-related traits (CBCL DSM-ADHD scale, both ages). Compared to the No-FH-autism/ADHD group, the FH-autism/ADHD group showed lower scores on simple EFs (involving response inhibition, and holding in mind) at ages 2 and 3. Exploratory analysis linked FH-autism specifically with lower Executive Attention (top-down attentional control) at age 2, and the combination of FH-autism and FH-ADHD with lower Complex EF (involving selectively deploying responses, or updating information) at age 3. Three-year-olds’ Simple EF scores were negatively associated with ADHD-related traits. Complex EF scores were negatively associated with autism traits (before correcting for multiple comparisons). Toddlers with a family history of autism and/or ADHD may benefit from interventions to support simple EF development, whilst those already showing autistic traits may benefit from support with more-complex EF skills.
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9. Hill AT, Ford TC, Bailey NW, Lum JAG, Bigelow FJ, Oberman LM, Enticott PG. EEG during dynamic facial emotion processing reveals neural activity patterns associated with autistic traits in children. Cereb Cortex;2025 (Feb 5);35(2)
Altered brain connectivity and atypical neural oscillations have been observed in autism, yet their relationship with autistic traits in nonclinical populations remains underexplored. Here, we employ electroencephalography to examine functional connectivity, oscillatory power, and broadband aperiodic activity during a dynamic facial emotion processing task in 101 typically developing children aged 4 to 12 years. We investigate associations between these electrophysiological measures of brain dynamics and autistic traits as assessed by the Social Responsiveness Scale, 2nd Edition (SRS-2). Our results revealed that increased facial emotion processing-related connectivity across theta (4 to 7 Hz) and beta (13 to 30 Hz) frequencies correlated positively with higher SRS-2 scores, predominantly in right-lateralized (theta) and bilateral (beta) cortical networks. Additionally, a steeper 1/f-like aperiodic slope (spectral exponent) across fronto-central electrodes was associated with higher SRS-2 scores. Greater aperiodic-adjusted theta and alpha oscillatory power further correlated with both higher SRS-2 scores and steeper aperiodic slopes. These findings underscore important links between facial emotion processing-related brain dynamics and autistic traits in typically developing children. Future work could extend these findings to assess these electroencephalography-derived markers as potential mechanisms underlying behavioral difficulties in autism.
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10. Holmefur M, Forslund T, Randell E, Wennberg B, Ayoub M, Almqvist L, Fängström K, Janeslätt G, Strandberg T. Evaluation of a home-based parenting support programme-Parenting Young Children-For parents with intellectual and developmental disabilities when there is a risk for neglect: Study protocol for a multi-centre study. PLoS One;2025;20(2):e0318447.
INTRODUCTION: Parents with intellectual and developmental disabilities (IDDs) often need parenting support, but there are few evidence-based programmes adapted to their cognitive needs. Parenting Young Children (PYC), a home-based programme for parents with IDDs, is perceived as beneficial by parents and practitioners, but it is unclear if PYC improves parenting. The purpose of the proposed mixed-methods study is therefore to evaluate the PYC programme for improved parenting in parents with IDDs. METHODS AND ANALYSIS: The quantitative evaluation will have a multi-centre, pretest-posttest study design and include parents with IDDs (children aged 0-9) in need of adapted parenting support. Goal-attainment in parenting skills, parental self-efficacy and child mental health will be measured outcomes. Interviews will be used to explore the perspectives of parents and children on PYC. ETHICS AND DISSEMINATION: Particpation is based on informed consent from parents and guardians of the participating children. Ethical approval was granted by the Swedish Ethical Review Authority.
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11. Issac A, Halemani K, Shetty AP, Thimmappa L, Vr V, Kiranmayi K, Mishra P, Kapoor V. The global prevalence of autism spectrum disorder in children: a systematic review and meta-analysis. Osong Public Health Res Perspect;2025 (Feb 10)
OBJECTIVES: The objective of this review was to analyze quantitative data on autism spectrum disorder (ASD) and to increase the accuracy of estimates of the prevalence of ASD. METHODS: This review, which was reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement, included studies conducted from January 2008 to June 2024 on children aged 3 to 18 years that used standardized measurement tools and reported cut-off scores for ASD. The prevalence of ASD was the primary outcome analyzed in this systematic review and meta-analysis. The PubMed, Clinical Key, Scopus, Embase, CINAHL, and Web of Science databases were reviewed for relevant studies. The review protocol was registered with PROSPERO and followed the Cochrane collaboration guidelines. Data was manually entered into Excel and analyzed using Stata software ver. 17. RESULTS: A total of 66 studies reported on the prevalence of ASD, screening 21,313,061 children worldwide. Among these, 25 studies were conducted in Europe, 22 in Asia, and 13 in America. Additionally, 3 studies each were reported from Africa and Australia. According to a meta-analysis, 0.77% of children globally are diagnosed with ASD, with boys comprising 1.14% of this group. Notably, Australia showed the highest prevalence rate, with an effect size of 2.18, highlighting it as a critical area for public health focus. CONCLUSION: ASD represents a significant global health burden. Early detection, increased awareness among parents, and prompt intervention are crucial for mitigating developmental problems in children later in life. It is essential for health policymakers to acknowledge the prevalence and growing trends of ASD in order to implement effective interventions.
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12. Kılıçaslan F, Karataş H, Doğan Ü. A bibliometric and visualized analysis of sleep problems in children with autism spectrum disorder. Res Dev Disabil;2025 (Feb 10);158:104943.
PURPOSE: Children diagnosed with autism spectrum disorder (ASD) exhibit a significantly higher prevalence of sleep problems compared to their typically developing peers. Despite numerous studies on ASD and sleep, a comprehensive bibliometric analysis on this topic is lacking. This study aims to analyze publications on sleep problems in children with ASD using bibliometric methods. METHODS: Research articles on sleep problems in children with ASD were obtained from the Web of Science Core Collection (WOSCC) database. Between 1984 and 2024, 462 studies by 1896 authors were published in 164 journals. We used bibliometrics to analyze papers on sleep problems in children with ASD, to draw the network of authors, countries, journals, and keywords in this field, and to visualize the results. RESULTS: The number of publications examining sleep problems in children with ASD has increased since 2011. The highest number of published studies is in 2021. The leading country in research is the USA, and the most productive author in this field is Malow B. In recent years, burst keywords were intervention, circadian rhythm, screen time, and melatonin. CONCLUSION: Increased attention has been paid to sleep in children with ASD. It is believed that this bibliometric analysis can help determine the gap in the field of sleep in children with ASD and help new studies to be conducted.
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13. McLellan J, Iosif AM, Cichewicz K, Canales C, Rahbarian D, Corea M, Bauman M, Nord AS, Van de Water J. Gestational autoantibody exposure impacts early brain development in a rat model of MAR autism. Mol Psychiatry;2025 (Feb 10)
Maternal autoantibody-related autism (MARA) is a subtype of autism characterized by the maternal production of specific patterns of autoantibodies during pregnancy, which significantly increases the likelihood of an autism diagnosis in their children. Multiple patterns of MARA autoantibodies (MARA-ABS) have been identified, and differences in the severity of the autism phenotype associated with each autoantibody pattern have been described. In this study, we utilized preclinical rat models to further elucidate the differential effects of MARA-AB exposure based on the known clinical patterns, including the originally reported pattern of lactate dehydrogenase A and B (LDHA/B) + collapsin response mediator protein 1 (CRMP1) + stress-induced phosphoprotein 1 (STIP1), as well as the more recently described patterns of CRMP1+CRMP2, CRMP1 + guanine deaminase (GDA), and STIP1+ neuron-specific enolase (NSE). We induced endogenous MARA-AB production in rat dams before pregnancy to expose offspring to the ABs throughout gestation. We found that in postnatal day 2 offspring exposed to MARA-ABS, the levels of brain and serum cytokines/chemokines/growth factors were altered based on the pattern of MARA-AB exposure. Further, bulk transcriptomic profiles of coronal sections containing hippocampal formation and the adjacent cortical and subcortical structures suggested changes in cellular proliferation and differentiation following MARA exposure. These combined observations demonstrate that gestational exposure to MARA-ABS alters early gene expression and immune signaling molecules, both of which may contribute to the altered neurodevelopment and behaviors associated with MARA.
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14. Miao H, Zhang C, Qian J, Jing H, Nan H, Li S, Shen X, Zhao J. Association between maternal smoking during pregnancy and developmental disabilities in US children and adolescents: A cross-sectional study from NHANES. Tob Induc Dis;2025;23
INTRODUCTION: Maternal smoking during pregnancy is associated with placental DNA methylation and RNA expression, offspring DNA methylation, and affects the decline of mature neurons and the prenatal human brain development trajectory. METHODS: This study is a secondary analysis of data from the National Health and Nutrition Examination Survey (NHANES) spanning 2003 to 2008, comprising 10111 children and adolescents. Inclusion criteria required participants to have complete questionnaire responses regarding maternal smoking during pregnancy and receipt of special education or early intervention services. The risk of developmental disabilities was assessed using a multifactor logistic regression model. RESULTS: In the cohort of 10111 children and adolescents, 727 (7.2%) received special education or early intervention services. Of these participants, 1504 (14.9%) were exposed to maternal smoking during pregnancy. The prevalence of maternal smoking was higher (12.3%) in the group receiving special education or early intervention compared to those who did not (6.3%). After adjusting for other relevant factors in a multifactorial logistic regression model, maternal smoking during pregnancy was significantly associated with an increased likelihood of requiring special education or early intervention services (adjusted odds ratio, AOR=1.51; 95% CI: 1.24-1.83, p<0.001). CONCLUSIONS: This cross-sectional analysis found an association between maternal smoking during pregnancy and the need for special education or early intervention services among US children and adolescents, after adjusting for confounding variables. Our findings suggest that maternal smoking during pregnancy may increase the odds of developmental disabilities.
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15. Norris LA, Rabner JC, Marklin M, Crane ME, Renschler K, Jenkins E, Kemp J, Storch EA, Wood JJ, Kerns CM, Lewin AB, Small BJ, Kendall PC. Caregiver Satisfaction with Anxiety Treatment for Autistic Youth: A Mixed Methods Examination. J Autism Dev Disord;2025 (Feb 10)
For Cognitive Behavioral Therapy to best meet the specific needs of autistic youth with co-occurring anxiety and to continue to grow as a sustainable treatment option, it is important to incorporate caregiver perspectives and feedback. Data were drawn from a randomized controlled trial and included 148 caregivers of autistic youth (ages 7-13 years, M = 9.89, SD = 1.79; 23% female; 77.7% White) with co-occurring anxiety disorders randomized to one of two active treatment conditions (Coping Cat, n = 72, or Behavioral Interventions for Anxiety in Children with Autism [BIACA], n = 76). A systematic inductive thematic analysis was used to code open-ended parent responses on the Consumer Satisfaction Questionnaire to identify what caregivers of autistic children with co-occurring anxiety liked most and least about their child’s treatment. Satisfaction with treatment was high (M = 64.98, SD = 5.48). Caregivers’ most-liked treatment features across treatments included (a) tools and coping skills, (b) therapeutic alliance, (c) caregiver support and involvement, (d) personalized treatment, and (e) treatment efficacy. Least-liked features of treatment and family participation included (a) the commute to the clinic, (b) treatment length, (c) commitment required at home, (d) questionnaires, and (e) scheduling. Treatment responders endorsed therapeutic alliance more frequently. Caregivers in BIACA endorsed caregiver support and involvement at higher rates, in addition to commitment required at home. Caregiver responses indicated a preference for more sessions and highlighted the importance of balancing need for caregiver involvement in treatment while reducing caregiver burden.
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16. Ozawa Y, Hikoya A, Tachibana N, Komori M, Fukuda T, Ishigaki H, Hiraide T, Sato M. Vitamin A Deficiency in Children With Autism Spectrum Disorder. Cureus;2025 (Jan);17(1):e77129.
Vitamin A deficiency (VAD) can manifest as xerophthalmia, a spectrum of eye conditions ranging from night blindness to severe outcomes like keratomalacia and corneal scarring. We report two cases of a seven-year-old girl and a 13-year-old boy in Japan with xerophthalmia caused by VAD associated with autism spectrum disorder (ASD). The first case demonstrates severe complications of prolonged VAD, including optic disc edema and irreversible corneal damage, which then results in blindness. The second case identified and treated earlier in the stage of corneal xerosis shows favorable prognosis. These two cases illustrate the risk of VAD among children with ASD and the importance of timely intervention to prevent permanent vision loss. Because of the prevalence of ASD, awareness of VAD as a potential health problem needs to be raised. Early detection, proper treatment, and dietary guidance are crucial in managing VAD. Ophthalmologists must be vigilant for signs of VAD in children with ASD, including difficulty opening eyelids, to prevent irreversible visual loss.
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17. Passarini S, Guerrera S, Picilli M, Fucà E, Casula L, Menghini D, Pirchio S, Zanna V, Valeri G, Vicari S. The challenge of a late diagnosis of Autism Spectrum Disorder: co-occurring trajectories and camouflage tendencies. a case report of a young Autistic female with Avoidant Restrictive Food Intake Disorder. Front Psychiatry;2024;15:1447562.
INTRODUCTION: Autistic individuals may show several psychiatric co-occurrences, including Feeding and Eating Disorders (FEDs). Avoidant and Restrictive Food Intake Disorder (ARFID) consists of avoidance or restriction in food intake, leading to significant weight loss, nutritional deficiencies, and marked interference with psychosocial functioning. Both Autism Spectrum Disorder (ASD) and ARFID are characterized by the two main features of cognitive rigidity and sensory sensitivity, which may complicate differential diagnosis. There is a notable lack of information on the manifestation of ASD-ARFID co-occurrence, as well as tailored assessment tools and practice, and therapeutic approaches. CASE DESCRIPTION: This report provides a detailed description of L., a young girl with a late diagnosis of ASD who also developed unspecific depressive mood disorder and ARFID in co-occurrence. After the diagnosis of ASD, L. underwent multiple evaluations to address emerging psychiatric co-occurrences and symptom exacerbation, and in order to develop the most effective integrated treatment. CONCLUSION: The case of L. expands the knowledge on the phenotype of Autistic females and exemplifies how delayed diagnosis may exacerbate functioning differences and increase the camouflage phenomenon. Additionally, it underscores the importance of improving tailored evaluation, combined treatment plans, with both cognitive-behavioral therapy and drugs, and monitoring the evolving patterns of Autistic manifestations and associated psychiatric co-occurrences.
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18. Posar A, Visconti P. Grunya Efimovna Sukhareva’s work in the field of autism spectrum disorder. Eur Child Adolesc Psychiatry;2025 (Feb 10)
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19. Ramesh V, Tsoukala E, Kougianou I, Kozic Z, Burr K, Viswanath B, Hampton D, Story D, Reddy BK, Pal R, Dando O, Kind PC, Chattarji S, Selvaraj BT, Chandran S, Zoupi L. The Fragile X Messenger Ribonucleoprotein 1 Regulates the Morphology and Maturation of Human and Rat Oligodendrocytes. Glia;2025 (Feb 10)
The Fragile X Messenger Ribonucleoprotein (FMRP) is an RNA binding protein that regulates the translation of multiple mRNAs and is expressed by neurons and glia in the mammalian brain. Loss of FMRP leads to fragile X syndrome (FXS), a common inherited form of intellectual disability and autism. While most research has been focusing on the neuronal contribution to FXS pathophysiology, the role of glia, particularly oligodendrocytes, is largely unknown. FXS individuals are characterized by white matter changes, which imply impairments in oligodendrocyte differentiation and myelination. We hypothesized that FMRP regulates oligodendrocyte maturation and myelination during postnatal development. Using a combination of human pluripotent stem cell-derived oligodendrocytes and an Fmr1 knockout rat model, we studied the role of FMRP on mammalian oligodendrocyte development. We found that the loss of FMRP leads to shared defects in oligodendrocyte morphology in both rat and human systems in vitro, which persist in the presence of FMRP-expressing axons in chimeric engraftment models. Our findings point to species-conserved, cell-autonomous defects during oligodendrocyte maturation in FXS.
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20. Robins DL, Vivanti G, Algur Y, Ryan V, McClure LA, Fein D, Stahmer A, Wieckowski AT. Critical Examination of Autism Screening Tools: A Reply to Øien. J Am Acad Child Adolesc Psychiatry;2025 (Feb 4)
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21. Saad K, Ezzat M, Elhoufey A, Ahmed ME, Al-Atram AA, Fageeh MM, Hamed Y. Asthma and Atopic Diseases in Children with Autism Spectrum Disorders. J Pharm Bioallied Sci;2024 (Dec);16(Suppl 4):S3209-s3211.
OBJECTIVE: Autism spectrum disorders (ASD) and atopic diseases are prevalent conditions affecting numerous children globally, with rising incidence rates. While both environmental and genetic factors are involved, the precise cause of this rise remains elusive. This study aims to assess the frequencies of atopic diseases in a cohort of Egyptian children with ASD. PATIENTS AND METHODS: We employed a survey consisting of 23 points relating to atopic conditions, which were modified from the International Study of Asthma and Allergies in Childhood (ISAAC). Parents of all participants with ASD and controls completed the questionnaires. RESULTS: Our study included 150 ASD and 100 control children. All allergic diseases were significantly higher in ASD patients except food allergy. CONCLUSION: Allergic diseases are complex conditions influenced by both genetic predisposition and environmental factors, which play pivotal roles in their development. Our investigation has revealed a heightened prevalence of allergic diseases alongside ASD, reinforcing the link between ASD and allergic conditions. Hence, further comprehensive studies with larger sample sizes are warranted to thoroughly assess and validate these findings.
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22. Shmueli D, Razi T, Almog M, Menashe I, Mimouni Bloch A. Injury Rates Among Children With Autism Spectrum Disorder With or Without Attention-Deficit/Hyperactivity Disorder. JAMA Netw Open;2025 (Feb 3);8(2):e2459029.
IMPORTANCE: Injuries are a major cause of morbidity and mortality among children with neurodevelopmental conditions. Identifying injuries associated with this vulnerable population could inform specific preventive actions. OBJECTIVE: To compare the injury risk among children with autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), or coexisting ASD and ADHD with children with typical development (TD). DESIGN, SETTING, AND PARTICIPANTS: This population-based cohort study involved 325 412 children born between 2005 and 2009, followed up until the end of 2021. Data analysis was conducted from February 2 to November 14, 2023. The study data were extracted from the Clalit Health Service (CHS) database, which contains comprehensive clinical and sociodemographic data on all members of the CHS admitted to the emergency departments (EDs) of all hospitals in Israel during the study period. Children who were members of CHS born between 2005 and 2009 were classified into 4 groups: ASD, ADHD, ASD and ADHD, and TD (control). MAIN OUTCOMES AND MEASURES: Negative binomial regression models were used to assess incidence rate ratios (IRRs) of ED visits between the study groups and the control group. These models were adjusted for birth year, sector, and socioeconomic status. IRRs for specific injuries were also assessed. The statistical significance of IRRs was assessed using 95% CIs. RESULTS: A total of 325 412 children (163 183 boys [50%]) were included in the study. Children with ASD, ADHD, or both had significantly higher ED visit rates than children with TD (IRR, 1.48 [95% CI, 1.42-1.55], 1.45 [95% CI, 1.39-1.52], and 1.29 [95% CI, 1.28-1.30], respectively). Children with ADHD had also higher rates of ED visits due to physical injuries compared with controls (IRR, 1.18 [95% CI, 1.16-1.20]), whereas children with ASD with or without ADHD did not (IRR, 0.96 [95% CI, 0.89-1.05] and 0.91 [95% CI, 0.83-1.00], respectively). A focused analysis of the injury profiles revealed that children with ASD or comorbid ASD and ADHD had higher rates of ingestion and inhalation injuries (IRR, 1.57 [95% CI, 1.06-2.25] and 1.80 [95% CI, 1.28-2.48], respectively) and lower rates of orthopedic injuries (IRR, 0.78 [95% CI, 0.69-0.89] and 0.83 [95% CI, 0.74-0.93], respectively), and animal-inflicted injuries (IRR, 0.44 [95% CI, 0.22-0.79] and 0.92 [95% CI, 0.60-1.35], respectively) than controls. CONCLUSIONS AND RELEVANCE: In this large cohort study, different types of injury were associated with children with ASD and ADHD. The causes underlying these associations should be further investigated to develop effective approaches for injury reduction among these children.
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23. Sütçübaşı B, Ballı T, Roeyers H, Wiersema JR, Çamkerten S, Öztürk OC, Metin B, Sonuga-Barke E. Differentiating Functional Connectivity Patterns in ADHD and Autism Among the Young People: A Machine Learning Solution. J Atten Disord;2025 (Feb 10):10870547251315230.
OBJECTIVE: ADHD and autism are complex and frequently co-occurring neurodevelopmental conditions with shared etiological and pathophysiological elements. In this paper, we attempt to differentiate these conditions among the young people in terms of intrinsic patterns of brain connectivity revealed during resting state using machine learning approaches. We had two key objectives: (a) to determine the extent to which ADHD and autism could be effectively distinguished via machine learning from one another on this basis and (b) to identify the brain networks differentially implicated in the two conditions. METHOD: Data from two publicly available resting-state functional magnetic resonance imaging (fMRI) resources-Autism Brain Imaging Data Exchange (ABIDE) and the ADHD-200 Consortium-were analyzed. A total of 330 participants (65 females and 265 males; mean age = 11.6 years), comprising equal subgroups of 110 participants each for ADHD, autism, and healthy controls (HC), were selected from the data sets ensuring data quality and the exclusion of comorbidities. We identified region-to-region connectivity values, which were subsequently employed as inputs to the linear discriminant analysis algorithm. RESULTS: Machine learning models provided strong differentiation between connectivity patterns in participants with ADHD and autism-with the highest accuracy of 85%. Predominantly frontoparietal network alterations in connectivity discriminate ADHD individuals from autism and neurotypical group. Networks contributing to discrimination of autistic individuals from neurotypical group were more heterogeneous. These included language, salience, and frontoparietal networks. CONCLUSION: These results contribute to our understanding of the distinct neural signatures underlying ADHD and autism in terms of intrinsic patterns of brain connectivity. The high level of discriminability between ADHD and autism, highlights the potential role of brain based metrics in supporting differential diagnostics.
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24. Xu S, Wang X, Shen L, Yan X, Feng G, Cao F. Brain functional differences during irony comprehension in adolescents with ASD. Cereb Cortex;2025 (Feb 5);35(2)
Irony comprehension is challenging for both individuals with ASD and poor comprehenders (PCs). We aimed to examine the common and specific mechanisms underlying irony comprehension difficulty in the two populations. Both adolescents with ASD and PC showed lower performance in irony comprehension than an age-matched typical control group (TD). The ASD group also showed deficits in theory of mind (ToM), while the PC group showed impairments in structural language skills. In the brain, the ASD group showed reduced brain activation in the left inferior frontal gyrus (IFG) compared to both the TD and the PC group, suggesting ASD-specific differences, which was further found to be correlated with ToM deficits in ASD. Both the TD and the PC group showed greater activation for the ironic than the literal condition in the bilateral medial prefrontal cortex (mPFC), but the ASD group did not, suggesting ASD-specific difference in irony comprehension. The PC group showed reduced activation in the right cuneus compared to the TD, which was correlated with the language comprehension score, suggesting different mechanisms than ASD. Our findings provide insights about the neurocognitive mechanisms underlying impaired irony comprehension in ASD and PC.