Pubmed du 09/10/25
1. Arney L, Uymatiao R, White J. Case Report: Substance fixation in autism spectrum disorder with resultant anorexia nervosa. Front Psychiatry. 2025; 16: 1630528.
Autism spectrum disorder (ASD) has a long-standing history of being strongly associated with multiple psychiatric comorbidities, including substance use disorders (SUDs) and eating disorders (EDs) like anorexia nervosa (AN). ASD-specific features, including repetitive behaviors, constricted interests, cognitive rigidity, and obsessive fixations, are believed to make patients with ASD vulnerable to SUD and ED development. However, little research attempts to understand the interconnection between ASD and these comorbidities. We present a case of a 26-year-old man with a long-standing diagnosis of ASD who developed SUD and restrictive food intake, culminating in the patient meeting the AN criteria. This patient voluntarily admitted himself to the inpatient psychiatric unit with worsening depression and suicidal ideation following a car accident resulting from sleep deprivation and acute cannabis intoxication. Further investigation revealed a problematic, obsessive pattern of initial alcohol use associated with weight gain, followed by profound food restriction and subsequent transition to daily, near-constant cannabis use. On presentation, he appeared anxious with overt signs of sleep deprivation and malnutrition from substantial weight loss with a body mass index (BMI) decline from 23.6 to 16.98 over the last year. A urine drug screen was positive for cannabinoids, and imaging was unremarkable. Over an 11-day hospitalization, a multidisciplinary team initiated anxiolytics, antidepressants, sleep aids, and cannabis-withdrawal management combined with nutritional rehabilitation under dietitian supervision until acute suicidality was resolved with an improved BMI to 18.75. At discharge, the patient reported eagerness to engage with outpatient psychotherapy, ongoing psychiatric follow-up, and ASD-adapted cognitive behavioral therapy. This case underscores the diagnostic and management implications associated with co-occurring ASD, SUD, and ED. Obsessive fixation and rigidity potentiate maladaptive coping, which, if unaddressed in therapy, may increase the risk of future SUD and ED relapse. Though rapid inpatient stabilization is possible, gaps in both specialty care and ASD-adapted programs may compound relapse risk, especially in underserved regions. Additionally, this case necessitates a comprehensive assessment of patients with neurodevelopmental disorders for more informed and integrated therapeutic intervention. The nuanced interplay between ASD, SUD, and ED has synergistic effects on caloric restriction, requiring multidisciplinary treatment strategies to achieve sustained recovery and reduce morbidity in a vulnerable population.
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2. Black MH, Segers J, Moormann E, Torell S, Ingard C, Bölte S. A qualitative study of risk and resilience for positive life outcomes in neurodivergence using the WHO ICF. Sci Rep. 2025; 15(1): 35285.
Resilience is a dynamic process involving the interaction of multi-systemic individual and environmental factors that operate to protect against adversity and promote positive personal outcomes. Resilience is a topic of interest among groups who commonly experience adversity. Yet, it has received limited attention in the context of neurodivergence (e.g., autism and Attention Deficit Hyperactivity Disorder). This study is part of a larger project investigating the bio-psycho-social factors contributing to resilience in neurodivergence using the World Health Organization’s International Classification of Functioning (ICF). Interviews and focus groups were conducted with 69 neurodivergent individuals and/or their loved ones to explore the factors they believe influence risk and resilience for positive life outcomes and well-being. A deductive qualitative content analysis was employed to extract meaningful concepts from the interviews, which we then quantified by linking concepts to the ICF. A range of bio-psycho-social factors contributing to risk and resilience were identified, particularly in the ICF’s activity, participation, and environmental domains. Key factors included the immediate family, friends, and community members, as well as recreation and leisure, higher-level cognitive functions, and empowerment. Findings, while preliminary, highlight the need to look beyond individual factors alone, emphasizing the variable and context-dependent nature of resilience in neurodivergence.
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3. Cibralic S, Barker L, Hawker P, Tonge B, Williams K, Elliott EJ, Bellgrove M, Silk T, Anderson V, Kohn M, Sciberras E, Eapen V. Systematic review: the impact of policy levers on mental health service utilization and access for Autistic children. Child Adolesc Psychiatry Ment Health. 2025; 19(1): 109.
OBJECTIVE: Autistic children’s ability to access mental health services can be challenging due to the limited availability of therapists with autism experience, service ineligibility, and financial strain. This systematic review evaluated and synthesized literature regarding the impact of government policy levers on the access to, and utilization of, mental health services by Autistic children and their families. METHOD: Interdisciplinary databases together with gray literature and supplementary searches were used to identify relevant articles. Peer-reviewed, English language studies which reported on the impact of government policy levers on the utilization of, and access to, mental health services by Autistic children and their families were included. RESULTS: Searches resulted in the identification of 2305 articles (database searches = 744, additional searches = 1531), six of which were included in the final review. All six articles were from the United States of America, published between 2013 and 2020, with a focus on national and state regulatory policy levers targeting insurance companies. Results indicated that most policy levers did not improve service access to, or utilization of, mental health services. Gray literature searches identified that several countries had implemented autism specific policy levers, most however had not been evaluated regarding their impact on mental health service access and utilization by Autistic children or their families. CONCLUSION: The majority of identified policy levers have not resulted in greater utilization or access of mental health services for Autistic children or their families. More global research, focusing on datasets that have allowed policies time to impact change, is needed.
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4. Fekih-Romdhane F, Chaibi LS, Alhuwailah A, Sakr F, Helmy M, Shuwiekh HAM, Boudouda NE, Zarrouq B, Naser AY, Jebreen K, Roubi ML, Hassan ARB, Merdad N, Amin R, Nawajah I, Mohammed AH, Farhan SS, AlAni OA, Dabbous M, Malaeb D, Obeid S, Loch AA, Cheour M, Hallit S. Correction: Loneliness and susceptibility to social pain mediate the association between autistic traits and psychotic experiences in young non-clinical adults. Sci Rep. 2025; 15(1): 35036.
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5. Gernsbacher MA. Challenging the Assumption That Autistic People Lack a Theory of Mind. Biol Psychiatry Cogn Neurosci Neuroimaging. 2025; 10(10): 1001-2.
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6. Güleç A, Gerik-Celebi HB. First Reported Co-Occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review. Mol Syndromol. 2025.
INTRODUCTION: Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, multisystemic ciliopathy, whereas autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and restricted, repetitive behaviors. While both conditions are independently associated with genetic etiologies, their co-occurrence is exceptionally rare. To date, no prior report has confirmed such co-occurrence through molecular genetic analysis. CASE PRESENTATION: We report a 4-year-old male diagnosed with both BBS type 10 and ASD. Whole exome sequencing (WES) revealed a homozygous pathogenic variant in the BBS10 gene and a novel heterozygous intronic variant in the OGT gene, classified as a variant of uncertain significance. Clinically, the patient exhibited features consistent with both disorders, including retinal degeneration, polydactyly, renal anomalies, hypotonia, and ASD-specific behavioral patterns. CONCLUSION: This case represents the first genetically confirmed co-occurrence of BBS10 and ASD. The identification of a potentially contributory non-coding variant in the OGT gene provides novel insight into the shared genetic and pathophysiological mechanisms underlying ciliopathies and neurodevelopmental disorders. The findings emphasize the importance of dual diagnostic consideration in complex pediatric cases and demonstrate the value of genomic analysis in revealing rare genetic overlaps.
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7. Kayashima Y, Yamauchi T, Takeda T, Okumura K, Ishida R, Yamamuro K, Toritsuka M, Okada T, Iwata N, Makinodan M. Associations of TNF-α Expression With Self-Esteem in Autism Spectrum Disorder. Neuropsychopharmacol Rep. 2025; 45(4): e70047.
AIM: This study aimed to explore the relationship between self-esteem and tumor necrotic factor-alpha (TNF-α) expression in individuals with autism spectrum disorder (ASD). Self-esteem was assessed using the Contingencies of Self-Worth (CSW) scale, with a focus on external and internal contingencies, and TNF-α expression was measured, given its association with both ASD pathophysiology and self-esteem in prior studies. METHODS: We enrolled 51 high-functioning individuals with ASD and 34 typically developed (TD) individuals. Self-esteem was assessed using the Japanese version of the CSW scale, which evaluates seven domains, and the Personal Sense of Power. TNF-α expression in plasma was quantified via ELISA. Correlations of CSW scores and the Personal Sense of Power with TNF-α levels were analyzed using multiple regression models adjusted for confounding factors such as age, sex, education level, and autistic symptoms. RESULTS: In ASD individuals, TNF-α expression was significantly negatively correlated with the external CSW domain of others’ approval and showed a trend toward negative correlations with appearance and relationship harmony. These correlations were not observed in the TD individuals. Likewise, the Personal Sense of Power within family settings showed a trend toward positive correlations with TNF-α expression in ASD individuals, but not in TD individuals. DISCUSSION: This study highlights the implication of TNF-α levels in the self-esteem of ASD individuals, particularly in interpersonal relationships. Lower TNF-α expression was associated with higher self-esteem in social contexts, independent of the severity of autistic symptoms. These findings suggest a biological link between inflammatory pathways and self-esteem in ASD, contributing to a deeper understanding of the interplay between immune function and psychological well-being in this population.
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8. Mavridou M, Kyriazidi MA, Varlamis S, Skepastianos P, Mitka S, Papaliagkas V, Chatzidimitriou M. Elucidating the interplay between gut microbiota and autism spectrum disorder. New insights and therapeutic perspectives. Acta Microbiol Immunol Hung. 2025; 72(3): 180-92.
Autism is a complex neurodevelopmental disorder characterized by a wide range of cognitive, behavioural and communication impairments. Children with autism have a distinctive and underdeveloped range and volume of gut bacteria (microbiome) which is often not related to their diet. Evidence gathered throughout years of research suggests that the pathway between gut bacteria and the central nervous system, referred to as the gut-brain axis (GBA), has a profound effect on the social behaviours of autistic children. The gut microbiome has been shown to play a vital role in the manifestation of autism spectrum disorder (ASD) symptoms as gut dysbiosis – an imbalance in the gut microbiome – affects brain development through processes regulated by the neuroendocrine, neuroimmune and autonomic nervous systems. Although dysregulation of the gut microbiome and subsequent disruption of GBA are thought to contribute to the pathogenesis of autism, the underlying mechanisms and the extent to which the microbiome contributes to neurodevelopmental disorders remain unclear. In this review, we focus on understanding the complex and multidirectional interplay between gut microbiota and ASD based on evidence mounted over the years. Furthermore, we examine how genomics, metabolomics and microbiome components can be integrated to unravel this multifactorial disorder. The ability to understand the underlying mechanisms involved in ASD will pave the way for future advancements in therapy and treatment.
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9. Mengarelli F, Cordone V, Pecorelli A, Benedusi M, Valacchi G, Morresi C, Bacchetti T, Orlando P, Tiano L, Silvestri S. MITOCHONDRIAL REDOX IMBALANCE AND CoQ(10) DEFICIENCY IN RETT SYNDROME: INSIGHTS FROM PATIENT-DERIVED FIBROBLASTS. Arch Biochem Biophys. 2025: 110636.
Rett syndrome (RTT), a neurodevelopmental disorder primarily affecting females, is characterized by mutations in the MECP2 gene, leading to systemic oxidative stress and mitochondrial dysfunction. This study investigates the role of Coenzyme Q(10) (CoQ(10)), particularly its reduced form ubiquinol, in modulating oxidative stress and mitochondrial function in primary dermal fibroblasts derived from RTT patients with distinct MeCP2 mutations. Baseline assessments revealed significant CoQ(10) deficiencies and elevated reactive oxygen species (ROS) levels, notably in fibroblasts with the T158M mutation. Ubiquinol supplementation effectively restored CoQ(10) levels and improved redox balance in these cells. Additionally, treatment influenced mitochondrial dynamics, as evidenced by alterations in the expression of fission and fusion proteins and modulated the activity of paraoxonase 2 (PON2), an enzyme involved in cellular antioxidant defense. In conclusion, our data suggest that CoQ(10) supplementation could mitigate oxidative damage and preserve mitochondrial integrity, but we are far from being able to claim that it can represents an effective therapeutic strategy to complement current pharmacological treatments in RTT patients. Further research is warranted to explore the potential of CoQ(10) as an adjunctive treatment, particularly during the early stages of RTT.
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10. Panganiban J, Shih W, Levato L, Shire S, Kasari C. Meaningful Determinants of Early Response: Predicting and Characterizing Behavioral Changes for Minimally Verbal Autistic Children. Autism Res. 2025.
Autism encompasses a wide range of developmental abilities. Notably, nearly 30% of children fail to achieve phrase speech by kindergarten, even when provided with years of early interventions or participation in rigorously conducted clinical trials. Our understanding of why these challenges persist is limited by an underrepresentation of minimally verbal (MV) children in autism research. Consequently, our understanding of benefits from early intervention is limited. There is promising evidence that minimally verbal autistic children may benefit from an adaptive approach that can address their dynamic needs. Adaptive interventions give service providers the ability to adjust strategies and approaches to match the needs of an individual. A critical component of an adaptive intervention approach is the ability to assess response to the intervention in order to make a decision on the best course of action. Previous work in identifying response to intervention has identified key predictors such as IQ, age, and expressive language ability. However, it may be helpful to examine core developmental skills as important variables driving decisions in adaptive intervention approaches. The current study aims to explore how core developmental skills of MV autistic children are related to early response in the first phase of an adaptive intervention. Our secondary aim examines the skills that are changing among MV children identified as fast responders. This is a secondary data analysis of 194 MV autistic children (M = 72.42 months old, SD = 15.14 months) that were recruited to receive an adaptive intervention. The children were assessed for their development in social communication, play, expressive language, and cognition prior to receiving the adaptive intervention, and again after 6 weeks of intervention. At the 6-week mark, children were also assessed for their response to the intervention using a Clinical Global Impression Scale (CGI), which identified children as fast or slow responders to the intervention. Logistic regressions examined the association between core developmental skills and early response to initial intervention while controlling for site differences, age, and gender. Child-initiated joint attention (Z = 2.15, p = 0.031) predicted fast response to intervention. Higher play mastery level and more play diversity at baseline also significantly predicted fast response (Z = 2.20, p = 0.03; Z = 2.01, p = 0.04). Examination of developmental skills that changed during the initial intervention phase showed requesting skills and responding to joint attention as important determinants. Children with improved requesting skills (Z = 2.69, p = 0.007) and response to joint attention (Z = 2.69, p = 0.007) had increased odds of being identified as fast responders to the intervention. Identifying important core developmental skills among MV autistic children can play a critical role in the decision-making process of adaptive interventions. Especially helpful for MV children is the ability to identify meaningful skills and changes related to early intervention. Our analyses identified the importance of core developmental skills like joint attention and play as meaningful predictors of fast responders. Furthermore, the skills that made the most change among these fast responders were requesting skills and response to joint attention.
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11. Ruiz Brunner M, Macagno G, Laquis M, Cieri E, Gabe M, Condinanzi AL, Gil C, Cuestas E. Avoidant/restrictive food intake disorder in childhood autism: a narrative review. Arch Argent Pediatr. 2025: e202510745.
Avoidant/restrictive food intake disorder (ARFID), defined by the DSM-5, affects children’s growth and development and is common in those with autism spectrum disorder (ASD). This update aims to describe the causes, consequences, detection strategies, and therapeutic approaches to ARFID in children diagnosed with ASD, based on published scientific articles. Original articles, reviews, meta-analyses, and clinical trials published between January 2016 and February 2025 in peer-reviewed journals were included in this review. The search was conducted in PubMed, Cochrane Library, and Google Scholar using the descriptors « ARFID AND AUTISM. » Only fulltext studies in English or Spanish focusing on the pediatric population were considered; we found 23 relevant publications. This study explores how ASD characteristics can influence ARFID symptoms. Considering the findings, recommendations, and treatments based on clinical trials and meta-analyses are analyzed.
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12. Sturm KL, Semak D, Scheier ZA, Ramos RL, Otazu GH. Odor experience stabilizes glomerular output representations in two mouse models of autism. eNeuro. 2025.
Novel stimuli can be stressful for individuals with Autism Spectrum Disorders (ASD), though repeated exposure can reduce this effect. In Cntnap2(-/-) and Shank3B(+/-) mouse models of ASD, novel background odors impaired behavioral target odor recognition but that deficit improved with training. To investigate the neural basis of this improvement, we used widefield calcium imaging to measure olfactory bulb responses in Cntnap2(-/-) and Shank3B(+/-) mice and WT mice of either sex. Training with background odors enhanced both behavioral performance and neural discriminability of odor mixtures in both Cntnap2(-/-) and Shank3B(+/-) as well as WT mice. Naïve Cntnap2(-/-) and Shank3B(+/-) mice showed greater trial-to-trial neural variability than WT mice, but training stabilized neural responses. Critically, training produced a widespread reduction in olfactory bulb responses to background odors in ASD models, but not in WT mice. Thus, despite similar behavioral improvements as WT mice, Cntnap2(-/-) and Shank3B(+/-) mice relied on a distinct broad suppression of background odor responses to enhance olfactory coding in the presence of background odors.Significance Statement Abnormal sensory responses to unfamiliar stimuli are a hallmark of Autism Spectrum Disorders (ASD) and can be alleviated with prolonged exposure. Neural variability in sensory responses is observed in both individuals with ASD and different mouse models, but its impact on behavior remains unclear. Using two ASD-associated gene mutation models (Shank3 and Cntnap2), we performed widefield calcium imaging in the olfactory bulb. Prolonged exposure to a background odor stabilized olfactory bulb activity, enhancing neural coding and discrimination in these two different mouse models of ASD, but not in WT mice, despite similar improvements in behavior. This work highlights how neural activity fluctuations in the olfactory bulb influence behavior in ASD, offering insights into sensory processing mechanisms and potential therapeutic strategies.
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13. Williams N, Taylor J, Tuomainen H. A Protocol to examine the needs and experiences of autistic children/young people or children/young people with an intellectual disability when receiving support for mental health difficulties from child and adolescent mental health services. Wellcome Open Res. 2025; 10: 143.
BACKGROUND: Studies indicate a high prevalence of co-occurring mental health conditions in autistic children and young people (CYP) and CYP with intellectual disability (ID), with approximately 25% experiencing mental health conditions compared to 17.2% of their non-autistic or non-ID counterparts. Delivering psychological therapies to autistic CYP and CYP with ID proves challenging due to inaccessible mental health provision. Further research is necessary to comprehend autistic CYP and CYP with ID and their parent/carers needs and experiences within mental health services and identify barriers to access and engagement. The perspectives of autistic CYP or CYP with ID and their parent/carers should be incorporated into treatment planning to enhance psychological therapies. METHODS: We will conduct between 1-3 Narrative Interviews per participant, lasting up to 1.5 hours per ‘sitting’. Narrative interviews are a qualitative research method used to collect detailed and thorough information from individuals about their life events, insights, and perspectives. The study will involve CYP creating metaphors, allowing them to share their story. The study will use alternative methods of communication specific to their needs to allow the research team to explore the complexities of autistic CYP and CYP with ID needs and experiences. Additionally, parents/carers of autistic CYP and CYP with ID will tell their story of the needs and experiences of their child verbally. RESULTS: This study results will help to share the needs and experiences of the autistic CYP and CYP with ID, or a co-occurrence of both diagnoses and expose the barriers to accessing mental health services for autistic CYP and CYP with ID. CONCLUSIONS: Recommendations will include guidance on decision-making for referrals, assessment, and treatment provision for autistic CYP and CYP with ID and co-occurring mental health difficulties. Children and young people with a neurodevelopmental difference, such as autism or intellectual disability, are 4.5 times more likely to experience anxiety or depression than their peers, known as a co-occurring mental health difficulty. Furthermore, 27.4% of referrals to mental health services in 2023–24 were children and young people under 18, with a neurodevelopmental difference, emphasising the need for early intervention from mental health services. Autistic children and young people and children and young people with intellectual disability are either told that they do not meet the criteria for mental health provision or find it difficult to engage with the psychological therapies offered following the assessment stage. This study will carry out narrative interviews with autistic children and young people, children and young people with intellectual disability and their parents or carers, where individuals can share their stories, including needs and experiences when using mental health services. The study supports the government’s emphasis on early intervention and prevention of mental health difficulties. It will provide valuable recommendations for future service planning and mental health provision strategies for autistic children and young people and children and young people with intellectual disability. eng.
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14. Yu Z, Iadarola S, Daley S, Zheng Z. A Screen-based Multimodal Virtual Classroom Interface for Understanding Behavioral Sensory Responses in Autistic Adolescents: A Pilot Study. IEEE Trans Neural Syst Rehabil Eng. 2025; Pp.
Autism impacts at least 1 in 100 children worldwide, with about 90% experiencing sensory processing difficulties. Virtual Reality (VR), which can precisely deliver controlled sensory stimuli, has emerged as a promising tool for studying sensory experiences. However, VR systems using a head-mounted display may cause discomfort and exacerbate sensory challenges for autistic children. Screen-based VR could offer a viable alternative, but research on designing multimodal sensory delivery systems that simulate real-life experiences remains limited. As a result, the impact of on-screen VR on children’s behavioral sensory responses is not well understood. Therefore, as a pilot study to fill this gap, we designed a novel screen-based Multimodal Virtual Classroom Interface (MVCI) system. MVCI was designed to deliver well-controlled visual, auditory, and tactile stimuli that closely mimic a real classroom environment. The pilot study involved 9 autistic adolescents and 17 typically developing (TD) adolescents, all of whom reported 100% acceptance of the system. Quantitative behavioral analysis demonstrated that, even with the small sample size, the on-screen interaction showed significant differences (p < 0.05) between the two groups in terms of eye gaze, fine motor movements, and eye-hand alignment. Additionally, several behavioral patterns were strongly correlated with participants' sensory profiles and ADHD symptom severity (p < 0.05, r(s) > 0.7). Using a novel Fixation Sequence Modeling (FSM) framework, we were able to predict participants’ near-future performance with high accuracy (97-98% proximity) based on their granular behavioral responses.
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15. Zhao MM, Hashimoto K, Yang JJ. Early-life microbiota dysbiosis as a link between Autism Spectrum Disorder and Parkinson’s Disease. Mol Psychiatry. 2025.
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16. Zhu Z, Guan J, Xie X, Zhang C, Liao Z, Li Z, Lin B, Chen H, Zhuang Z, Meng S, Zou Y, Li W, Luo M, Dai D. Genome sequence of Mediterraneibacter faecis SZCH001, isolated from an autistic child. Microbiol Resour Announc. 2025; 14(10): e0070125.
Here, we report the draft genome sequence of Mediterraneibacter faecis SZCH001, isolated from a fecal sample of an autistic child. The bacterial genome was sequenced using Illumina technology on a Novaseq 6000 platform. The assembled genome of M. faecis comprises 3,423,666 base pairs with a G+C content of 40.27%.