Pubmed du 12/09/25
1. Angelopoulou M, Siaperas P, Livadas S, Karantana E, Papadimitriou DT, Angelopoulos N. Endocrine circuitry in autism spectrum disorders: A systematic review of mechanistic insights and clinical implications. Neuroscience. 2025; 585: 351-66.
The increasing global prevalence of Autism Spectrum Disorder (ASD) diagnoses-largely driven by heightened awareness, evolving diagnostic criteria, and improved detection-has intensified efforts to elucidate its complex neurobiological underpinnings, although the true change in occurrence remains uncertain. While much attention has been paid to genetic and neurodevelopmental factors, emerging evidence highlights the crucial role of the endocrine system in modulating social, cognitive, and behavioral outcomes associated with ASD. To systematically review the existing literature on endocrine dysfunction and hormonal signaling pathways implicated in ASD, with the aim of identifying common mechanistic links and evaluating their clinical relevance.A comprehensive literature search was conducted across PubMed, Scopus, and Google Scholar for studies published between 1980 and 2024. The review included 183 human studies evaluating associations between ASD and hormonal alterations, encompassing thyroid function, HPA axis dysregulation, growth hormone signaling, sex hormones, obesity, melatonin, oxytocin, vitamin D status, and exposure to endocrine-disrupting chemicals. Alterations in multiple endocrine axes were consistently associated with ASD, including prenatal thyroid imbalances, cortisol rhythm dysregulation, aberrant IGF-1 levels, elevated fetal steroidogenic activity, and impaired oxytocin signaling. Endocrine disruptors such as phthalates and pesticides were also linked to increased ASD risk in susceptible populations. Endocrine dysfunctions are frequently associated with ASD, with multiple hormonal axes potentially influencing its pathophysiology, although causality remains unconfirmed. Understanding hormonal influences across developmental stages could inform early detection strategies and novel therapeutic approaches.
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2. Cosand L, Mayman H, Downs J, Abler V. Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study. Dev Med Child Neurol. 2025.
AIM: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study. METHOD: Caregivers of any patients who were prescribed trofinetide under routine clinical care were eligible to participate. Assessments included the Behavioral Improvement Questionnaire (BIQ), the Quality of Life Inventory-Disability (QI-Disability) questionnaire, the Gastrointestinal Health Questionnaire, and safety monitoring. Data are reported to 12 months since the initiation of trofinetide. RESULTS: Overall, 227 caregivers participated in this follow-up. The median trofinetide dose at week 1 was 36.0% of the target dose and increased to over 80% by week 10 onwards; 55.2% of patients took the full trofinetide recommended daily dose. Caregivers (71%-90%) reported behavioral improvements across months 1 to 12 with the BIQ, including non-verbal communication (48%-71%), alertness (44%-70%), and social interaction and connectedness (33%-58%). The median QI-Disability total score change from baseline ranged from 4.7 to 4.6 in months 1 to 12. The incidence of diarrhea varied from weeks 1 to 12 (23%-50%) and months 4 to 12 (26%-38%); most reports of diarrhea were contained inside the patient’s diaper. Safety reports were consistent with previous trofinetide clinical trials. INTERPRETATION: Results from the LOTUS study show improvements in the symptoms of RTT, with early insights into managing gastrointestinal symptoms in the context of real-world patient care.
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3. Fernandez A, Sarn N, Eng C, Wright KM. Altered Primary Somatosensory Neuron Development in a Pten Heterozygous Model for Autism Spectrum Disorder. Autism Res. 2025.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social interactions, repetitive behaviors, and hyper- or hyposensitivity to sensory stimuli. The cellular mechanisms underlying the emergence of abnormal sensory sensitivity in ASD are not fully understood. Recent studies in rodent models of ASD identified differences in dorsal root ganglia (DRG) neurons that convey somatosensory information to the central nervous system. However, it is unknown how ASD-associated alterations in DRG neurons emerge during development and if these phenotypes are conserved across ASD models. We examined Pten (phosphatase and tensin homolog) heterozygous mice (Pten(Het)) as a model for syndromic ASD and identified altered responses to sensory stimuli. Transcriptomic and in vivo analysis identified alterations in subtype-specific markers of DRG neurons in Pten(Het) mice, emerging during early DRG development and involving dysregulation of signaling pathways downstream of PTEN. Finally, we show that mice harboring an ASD-associated mutation (Pten(Y69H)) show nearly identical alterations in the expression of somatosensory neuron subtype-specific markers. These results show that precise levels of PTEN are required for proper somatosensory development and provide insight into the molecular and cellular basis of sensory abnormalities in a model for syndromic ASD.
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4. Jofré L. A reading of stereotypy in autism through the concept of iteration. Int J Psychoanal. 2025; 106(4): 680-95.
Stereotypies currently occupy an important place in the clinical profile of autism spectrum disorder (ASD). Since they are usually described with the notions of sameness, resistance to change, or lack of variation, it would seem as if everything were repeated, and nothing could change. In this context, the following question arises: What is it that is repeated in stereotypical repetition? To answer this question, one must turn to clinical vignettes of patients diagnosed with ASD and to the concept of iteration stemming from two different epistemic fields (psychiatry and fractal geometry). Firstly, it is suggested that what is repeated in stereotypies, in particular, is the initial figure, since the elements that are unconnected to it change or may change. Secondly, specifically in the context of autism, it is suggested that what is repeated in a stereotypy is the very fact of repeating.
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5. Kira A, Pontes RG, Pedroso de Lima AK, Araújo LV, Monteiro CBM, Valenzuela EJ, da Silva VYH, Weingartner JP, de Moraes Í AP, Uribe-Quevedo A, Nunes FLS. MazeOut Adaptive Serious Game: Evaluation of Performance and Usability for Motor Rehabilitation in Individuals with Autism Spectrum Disorder. Games Health J. 2025.
Objective: To evaluate the effectiveness of MazeOut, an adaptive serious game for motor rehabilitation, in individuals with autism spectrum disorder (ASD), by comparing their performance and usability with that of individuals with typical development (TD) and assessing the impact of adaptive (AG) versus nonadaptive gameplay on task performance. Materials and Methods: A mixed-design study with 30 participants (15 ASD, 15 TD), aged 8 to 40 years, had each participant experience both adaptive and nonadaptive interventions in randomized order, allowing within- and between-subject comparisons. Performance was measured using overall scores (based on maze navigation speed and coin collection), and usability was assessed with the System Usability Scale (SUS). Data analysis was conducted using R software, with performance trends evaluated through segmented regression and the Kruskal-Wallis test. Results: The TD group outperformed the ASD group across all conditions (TD median score: 27.54; ASD median score: 23.79, P < 0.001). Notably, participants in both groups achieved significantly better performance when AG was introduced first (ASD: 24.04 vs. 19.1, P < 0.001; TD: 30.2 vs. 24.31, P = 0.005), suggesting that the adaptation facilitates initial task learning. ASD participants reported slightly higher usability (mean SUS = 77.2) than TD participants (74.6), with the highest scores among younger users (81.9). Conclusions: Adaptive serious games can enhance motor performance, particularly for individuals with ASD. The findings suggest that early exposure to AG may improve task performance. Future studies with larger samples and longer interventions are needed to assess long-term benefits.
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6. Moreno-Chaparro J, Castañeda-Millán G, Eslava Schmalbach J. Psilocybin Use in the Autism Spectrum Disorder: A Scoping Review. Clin Neuropharmacol. 2025.
OBJECTIVE: Due to the boom in the use of certain psychedelics in different neuropsychiatric conditions, the objective was to synthesize the available information on the use of psilocybin (a psychedelic) in the population with autism spectrum disorder (ASD; a developmental neuropsychiatric condition). METHODS: Scoping review. Question framework: Population: people with ASD-Concept: Psilocybin-Context: use, prescription, outcomes and pharmacological variables. The databases Medline (Pubmed), EMBASE, SCOPUS, LILACS, Web of Science and additional resources were searched until June 2024. Controlled and free terms combined with Boolean operators were used to find documents in English, Spanish and Portuguese. Screening was performed by title and abstract, full text and extraction independently by two reviewers. The analysis was descriptive and with emphasis on drug use. Protocol was registered in OSF (DOI code: 10.17605/OSF.IO/GPBVZ). RESULTS: Four studies were included. Indications for psilocybin prescription in ASD patients were related to cognitive rigidity, exacerbated fear, behavioral/social difficulties, and inability to generate mental imagery. Two studies mentioned specific psilocybin administration, identifying microdoses and dosing intervals. Results were grouped into increased empathy and emotionality/sociability, reduction of symptoms associated with their condition or comorbidity and changes compared with other populations. All the studies were of acceptable quality with low evidence level. CONCLUSIONS: Descriptive findings of a therapeutic signal were observed in some subjects with ASD at low doses, not associated with toxic or disruptive effects. As restrictions on psilocybin use are lifted, studies with a higher level of evidence should be conducted.
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7. Parish-Morris J, Cola M, Parish-Morris J, Cola M. A Way With Words: Do Clinicians Talk Differently When Assessing Autism in Boys vs Girls?. J Am Acad Child Adolesc Psychiatry. 2025.
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8. Roberts E, Mandy W, Flouri E. Differences in the Social Experiences of Autistic and Non-Autistic Adolescents by Gender. Autism Res. 2025.
Adolescence is a time of complex social and emotional development when friendships become of particular importance. Previous research has highlighted differences in the social experience of autistic and non-autistic adolescents, as well as that of autistic girls and boys. However, no study has compared the social experiences of autistic and non-autistic adolescents, including gender differences, in a population-representative sample. Using data from the Millennium Cohort Study (MCS), Sweep 6, we investigated differences between autistic (girls n = 111, boys n = 387) and non-autistic (girls n = 5847, boys = 5697) adolescents (mean age = 13.7 years, range = 13-15) regarding self-reports of: (i) having close friends, (ii) time spent with friends, (iii) social support, (iv) social alienation, (v) happiness with friendships, and (vi) having a romantic partner. Autistic adolescents reported having fewer close friends and spending less time with their friends. Autistic boys felt less socially supported than non-autistic adolescents, while autistic girls felt more socially alienated than all other groups considered in the study. After accounting for hyperactivity and emotional problems, all girls felt more socially alienated than boys. Only autistic boys were unhappier with friendships than non-autistic children. No group differences were found regarding romantic relationships. Some social experiences of adolescents vary greatly by both gender and diagnostic status. Further research should seek to examine the impact of these differences on mental health and well-being.
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9. Saputra AA, Arizona A, Saputra R, Asih T, Atmaja JR, Kusumaningtyas W. Data alone is not enough: Improvement initiatives and recommendations for PEERS intervention measures: Impact of social knowledge and skills training based on UCLA PEERS® on social communication and interaction skills of adolescents or young adults with autism: A systematic review and meta-analysis. Asian J Psychiatr. 2025; 112: 104696.
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10. Shams H, Nawaz I, Bashir S, Shahzadi B, Abualait T, Khan H, Hussain SA, Kiyani MM. Evaluating the Effectiveness of Structured Oral Language Therapy on Expressive Language in Preschool Children with Autism Spectrum Disorder. Neuropsychiatr Dis Treat. 2025; 21: 2083-93.
BACKGROUND: Autism spectrum disorder (ASD) comprises multiple mental and behavioural variations that mostly appear in early stage of life and effects persistently to all life. Establishing oral language plays an important role in expressive language, with a strong link to understanding reading and writing of ASD children. METHODS: The study employed a quasi-experimental design to assess the impact of structured oral language activities on expressive language skills in ASD children. Nineteen participants, aged 3-5 years, engaged in activities such as mealtime conversations, morning discussions, storybook reading aloud and rhymes over an 8-week period. Pre-testing established baseline measures, and outcomes were assessed through the quantity and quality of expressive language exhibited across these activities. RESULTS: The highest number of participants were 4 years of age and the majority were male participants (78.9%). The result indicated that the mean ± standard deviation of the pre-test and post-test of expressive language skill was 0.263 ± 0.452 with a p-value of 0.021 ≤ 0.05 level of confidence, with the most significant gains observed in morning conservations (p = 0.001) and reading aloud (p < 0.001). An increase in both the quantity and complexity of expressive language was observed across all activities. Significant differences can be seen in the amount and type of expressive language in activities related to morning conversation and reading aloud. Children expressed an increase in learning of numbers of words used specifically nouns, verbs and adjectives, with an improvement in the expression of vocabulary. CONCLUSION: There was a significant difference in the expressive language of ASD children receiving structured oral language representing facilitation in language development in ASD children.
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11. Steuber E, Fogler J, Bukstein O, Potts H. Comorbid Autism, Anxiety, and ADHD in a Preadolescent Boy: Clinical Opportunities. Harv Rev Psychiatry. 2025; 33(5): 276-81.
Autism spectrum disorder (ASD) is often comorbid with other psychiatric disorders, such as anxiety and attention-deficit hyperactivity disorder (ADHD). While common, individuals with autism and their families often face challenges accessing appropriate community-based treatment for coexisting disorders. The case of a preadolescent boy with ASD and comorbid anxiety and ADHD illustrates challenges and frustrations associated with fragmented health care systems, prolonged wait times for specialized services, and limited availability of clinicians trained in neurodevelopmental and psychiatric comorbidity interventions. Evidence-based psychotherapeutic and pharmacologic treatments for neurodivergent patients with psychiatric comorbidities are also discussed. Ongoing advocacy to reduce disparities and improve outcomes for children with neurodevelopmental and mental health needs is critically needed.
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12. Sugden N, Barna LS, Foor K, Kee J, Gunter C. Autism ableism seen through research abstract contents: A mixed-methods analysis of language in NIH-funded genetic and genomic autism research. Autism. 2025: 13623613251365979.
In recent years, genetic and genomic autism research has come under increasing scrutiny, moving to the center of debates about ableism, neurodiversity, autism acceptance, and the future of research and care. At the same time, both autism research and genetics and genomics research have, as fields, begun to reckon with the significance of the language researchers use in the course of their work and the harmful ideas that may thereby be reinforced. Although the language of research cannot be assumed to straightforwardly correspond to individual researchers’ beliefs, the presence of widespread ableist language may indicate structural and institutionalized ableism, including ableist assumptions at the foundations of research. We conducted a mixed-methods analysis of 166 genetic and genomic autism research projects funded by the US National Institutes of Health, in order to understand the prevalence of potentially ableist discourse, language, and stigmatizing language about autistic people. We found that such discourse and language was ubiquitous across our sample, including a discourse of prevention. This study lends empirical evidence to current debates about language in autism research. Evaluating language can prompt researchers and institutions to reflect on how they conceptualize, design, discuss, and pursue their work.Lay abstractGenetic research about autism is controversial. Researchers are starting to think more carefully about the words they use to talk about autism and the way they do their research. Past research has found that researchers sometimes write about autism in ableist ways. This means that they write about autistic people as though they are less important than nonautistic people. We looked at the way genetics researchers have written about autism in the paperwork for their research. We found that they often write about autistic people in an ableist way. We think that researchers should think carefully about the way they write about autistic people, and how they plan and do their research.
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13. Torenvliet C, Radhoe TA, Geurts HM. Occurrence and overlap of physical and mental health conditions in autistic adults. Autism. 2025: 13623613251362346.
Mental and physical health conditions are a major topic of concern in autistic adults, but studies rarely consider their overlap. Therefore, this study assessed physical health conditions and mental health conditions in autistic adults in the Netherlands and potential associations between them. Using questionnaires, we compared autistic (n = 327) and non-autistic (n = 274) adults (30-90 years) on mental health conditions, physical health conditions, and health-related quality of life. Autistic adults reported lower health-related quality of life than non-autistic adults. Logistic regressions indicated significantly higher rates of all mental health conditions reported by autistic adults, most common being mood (45%), anxiety (22%), and personality disorders (21%), with odds ratios ranging from six to 34. Regarding physical health conditions, autistic adults reported significantly higher rates of bowel conditions (27%), allergies (48%), and hypothyroid conditions (6%), with odds ratios ranging from two to four. Psychometric network analysis of autism and the most frequently occurring mental health conditions and physical health conditions highlighted autism as a central node, followed by mood and personality disorders, bowel and respiratory conditions, and allergies. Mental health conditions were tightly clustered, indicating high comorbidity. While no single condition connected physical and mental health in particular, we found several links between the two. These findings emphasize the need for improved healthcare and broader societal changes to enhance the well-being of autistic individuals.Lay AbstractAutistic adults often face a range of physical and mental health conditions, but the relationship between these two types of health issues is not well understood. Our study looked at how often physical and mental health conditions in autistic adults occurred. We also studied the connections between these conditions, using a method called psychometric network analysis. We surveyed 327 autistic and 274 non-autistic adults, aged 30-90 years, about potential health conditions they faced and the perception of the quality of their health, also known as health-related quality of life. We found that autistic adults had a lower health-related quality of life and reported higher rates of all mental health conditions. Mood (45%), anxiety (22%), and personality disorders (21%) were most common. Autistic adults were between six and 34 times more likely to have these mental health conditions compared to non-autistic adults. In terms of physical health, autistic adults reported higher rates of bowel conditions (27%), allergies (48%), hypothyroid conditions (6%), and less robustly of strokes (CVA/TIAs; 3%), and rheumatic conditions (31%)- and a two- to four-times higher risk than non-autistic adults. Using psychometric network analysis, we found that mental health conditions in autistic adults are closely linked, showing how complex their health challenges are. While there was no single condition that connected physical and mental health in particular, we found several links between the two. These findings emphasize the need for improved healthcare and broader societal changes to enhance the well-being of autistic individuals.
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14. Wen H, Zeng X, Liu X, Chen Z, Ma B. « Let’s Try to Stay on Track »: Exploring Therapists’ Responses to Digressive Utterances of Children with ASD. Psychol Res Behav Manag. 2025; 18: 1969-92.
PURPOSE: Autistic children’s digressive utterances can disrupt therapeutic progress, yet remain understudied in China. This study investigates how Chinese therapists respond to such digressions during Naturalistic Intervention (NI) sessions, specifically exploring how they navigate the tension between structured therapeutic goals and spontaneous interactions while adapting evidence-based practices (EBPs) to individual child profiles and sociocultural contexts. PARTICIPANTS AND METHODS: Applying discourse analysis (DA), we analyzed 19 NI sessions involving five Board Certified Behavior Analysts (BCBAs; ≥2 years of experience; trained in NI) and ten Chinese autistic boys (aged 29-78 months; Level 1 ASD). Therapists delivered tailored NI sessions (4-30 hours/week), embedding communication goals within play-based routines. Sessions were video-recorded in therapeutic settings. RESULTS: Therapists employed seven distinct response practices spanning a directive-to-elicitory continuum. Immediate refocusing practices (restatement with nonverbal cues, digression-termination before refocusing, and integration) prioritized task adherence but risked further disengagement. Delayed refocusing practices (minimal acknowledgment before refocusing, accommodation before refocusing, and following the child’s lead before refocusing) validated children’s agency and elicited higher rates of goal-aligned responses. Digression-following practices fostered spontaneity but risked further divergence. Notably, accommodation and following the child’s lead before refocusing elicited the most contingent responses, while abrupt termination often provoked resistance. Senior therapists employed more diverse practices while favoring delayed refocusing practices, whereas juniors favored immediate refocusing practices. Practice selection was influenced by digression sub-focus, therapist experience, child characteristics, and sociocultural contexts. CONCLUSION: Findings reframe digressions as agentic bids necessitating mutual adaptation, aligning with « the double empathy problem ». As the first DA study of therapist responses to digressions in China, this study underscores the clinical importance of culturally attuned flexibility for validating autistic agency while maintaining therapeutic progress. Based on the research findings, therapist training should emphasize reflective, context-responsive practices to enhance engagement across cultures.
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15. Zhang N, Xiong Y, Ge K, Liu Y. [Clinical observation of Jin’s three-needle therapy combined with game therapy in the treatment of autism spectrum disorder]. Zhongguo Zhen Jiu. 2025; 45(9): 1259-64.
OBJECTIVE: To observe the clinical effect of Jin’s three-needle therapy combined with game therapy on children with autism spectrum disorder (ASD). METHODS: Sixty children with ASD were randomly divided into an observation group and a control group, with 30 cases in each. The children in the observation group received Jin’s three-needle therapy combined with game therapy. The acupoints used in Jin’s three-needle therapy included Zhisanzhen, Niesanzhen, Sishenzhen and Naosanzhen, and matches acupoints with syndromes. The acupoints included Shenting (GV24), Naohu (GV17) and bilateral Benshen (GB13), Naokong (GB19), Xinshu (BL15), Zusanli (ST36), etc. The needles were retained for 1 h for scalp acupuncture and not retained for body acupuncture. Game therapy included social interaction, music and dance, language stimulation, etc. The children in the control group were treated with the same game therapy in the observation group. Treatments were administered once daily, five times a week, with a three-month course considered as one treatment cycle, and a total of two cycles were provided. The scores of childhood autism rating scale (CARS), autism behavior scale (ABC) and 0-6-year-old Children’s neuropsychological development assessment scale (children’s psychological scale) were compared between the two groups before treatment and after 3 and 6 months of treatment. RESULTS: After 3 and 6 months of treatment, the CARS and ABC scores of both groups were lower than those before treatment (P<0.01). After 6 months of treatment, the CARS and ABC scores of the observation group were lower than those of the control group (P<0.05). After 3 and 6 months of treatment, the scores of gross motor, fine motor, adaptive ability, language, and social behaviors in both groups were higher than those before treatment (P<0.01). After 3 months of treatment, the observation group showed a greater improvement in gross motor, fine motor, adaptive ability, and social behaviors compared to the control group (P<0.05). After 6 months of treatment, the observation group showed a greater improvement in gross motor, fine motor, adaptive ability, language, and social behaviors compared to the control group (P<0.01, P<0.05). CONCLUSION: Jin's three-needle therapy combined with game therapy is an effective method for the treatment of ASD, which shows more obvious advantages than simple game therapy in promoting the improvement of children's ability and reducing related behavior.
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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: 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%.