1. Al-Mamari W, Idris AB, Al Aamri H, Al Khatri H, Al Sinani A, Al Kharusi R, Mirghani M, Al-Jabri M, Jalees S, Al-Hadhrami S, Islam M, Fombonne E. Could a National Screening Program Reduce the Age of Diagnosis of Autism Spectrum Disorder?. J Autism Dev Disord. 2025.

A systematic screening program for detecting autism at 18 months was progressively implemented in Oman since 2017. The primary objective of this study was to examine whether systematic use of M-CHAT-R/F screening is associated with lowering the age at ASD diagnosis, controlling for other predictors of age at ASD diagnosis. The study is based on a cross-sectional retrospective review of data extracted from electronic records of 756 children diagnosed with ASD between 1st January 2017 and 30th June 2023. Descriptive statistics and multiple linear regression models were used for data analysis. Of 756 children (mean age: 7.3 years, age range: 1.8-14 years; 77.5% males) included in this study, 98 (13%) underwent M-CHAT-R/F screening. The average age at ASD diagnosis was 60.7 months (95% CI: 58.8, 62.7 months). A significantly lower age at ASD diagnosis was observed among children who underwent M-CHAT-R/F screening compared to those who did not (39.4 vs. 63.8 months; p < 0.001). Multiple regression analysis indicates that children who were screened with M-CHAT-R/F received a diagnosis of ASD at an average age 20% earlier than children who were not screened with M-CHAT-R/F (adjOR = 0.80; 95% CI: 0.73, 0.88, p < 0.001). The population-based M-CHAT-R/F screening program appears to have reduced the average age of diagnosis of ASD among children. The findings may translate into earlier access to intervention and possibly improved long-term outcomes for children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

2. Aller TB, Kelley HH, Barrett TS, Covington B, Levin ME, Brunson McClain M. An Examination of Psychological Flexibility as a Mediator Between Mental Health Concerns and Satisfaction with Life Among Autistic Adults. Autism Adulthood. 2024; 6(4): 451-61.

BACKGROUND: Experiencing mental health concerns (MHC; e.g., depression, anxiety, stress) can have negative effects on satisfaction with life (SWL) for autistic adults. Current mental health supports that may promote SWL do not effectively meet the needs of autistic adults, often due to deficit-based approaches. METHODS: To begin addressing the gap in research surrounding mental health supports among autistic adults, we designed a preregistered longitudinal study that used structural equation modeling to assess 289 autistic adults from the Simons Powering Autism Research (SPARK) program to determine whether progress toward one’s values, a strengths-based component of psychological flexibility, is a potential mechanism through which MHC (i.e., depression, anxiety, and stress) impacts SWL. RESULTS: Results suggested that depression (but not anxiety or stress) negatively affected participants’ SWL. However, when including components of psychological flexibility as a mediator, there was no longer a significant direct effect between depression and SWL, suggesting that influences on SWL were explained through participants’ levels of components of psychological flexibility. The influence of values progress on the association between depression and SWL was significantly stronger than that of value obstruction (a deficit-based construct). Associations did not differ across gender. CONCLUSION: These findings provide preliminary support for interventions targeting improvements in psychological flexibility as they may help address core issues of deficit-based mental health services while also being able to emphasize outcomes that matter most to the autism community.

Lien vers le texte intégral (Open Access ou abonnement)

3. Almohri MA, Alawainati MA, Ayoob ZA, Nasser NA, Abdulaal NA, Aldailami AA, Aldailami DA. Characteristics and outcomes of the screening program of autism spectrum disorder in Primary Healthcare Centers in Bahrain. J Family Community Med. 2025; 32(1): 44-50.

BACKGROUND: Autism spectrum disorder (ASD) is a chronic neurodevelopmental condition that requires early diagnosis and intervention for the improvement of the patient’s skills and functioning. Several guidelines, therefore, recommend the screening of all children for ASD. This study determined the outcomes of ASD screening program in Primary Healthcare Centers (PHCs) in Bahrain. MATERIALS AND METHODS: A cross-sectional study was conducted in 12 of the 27 PHCs in Bahrain. The Modified Checklist for Autism in Toddlers-Revised (MCHAT-R) was completed for children who attended the selected centers. Findings from the checklists and the outcome of positive screening cases were recorded. MCHAT-R scores of <3 were indicative of a low risk for ASD. Children with moderate and high MCHAT-R risk were referred for psychiatric assessment. SPSS version 25.0 was used for data analysis; mean and standard deviation were calculated for continuous variables, and categorical variables presented as frequency and percentage. Chi-square test or Fisher's exact test, as appropriate, used to test for statistical significance. RESULTS: A total of 3729 MCHAT-R checklists of children with a mean age of 2 years were included. Most children were Bahraini (78.0%), half of whom were males (51.3%). While most of the children (98.8%) had a low-risk MCHAT-R score, 1.2% had a moderate-high risk MCHAT score (12.33/1000). Of the cohort, 19 cases (0.51%) had ASD, 5.10/1000 children. Nearly two-thirds of children with confirmed ASD were males ( 63.2%), and one-third were females (36.8%). In addition, 14 cases (41.2%) of those who had moderate-high MCHAT refused to follow the subsequent diagnostic protocol. CONCLUSION: This study revealed a low prevalence of positive MCHAT-R screening and confirmed ASD cases. The vast majority of children who were positive on screening had a confirmed diagnosis of ASD. Some cases with positive MCHAT results failed to follow up for diagnosis. Therefore, improving parental and community awareness regarding ASD is important for a better outcome.

Lien vers le texte intégral (Open Access ou abonnement)

4. Brian J, Solish A, Leef J, Nguyen J, Bickle L, Budovitch R, Chan V, Drouillard B, Drumm E, Genore L, Adams RH, Hermolin R, Klemencic N, Lambert M, Lee K, Lim J, Mak-Fan K, O’Neill M, Price S, Pye M, Selezneva E, Taheri A, Anagnostou E. Virtual delivery of group-based cognitive behavioral therapy for autistic children and youth during the COVID-19 pandemic was acceptable, feasible, and effective. Sci Rep. 2025; 15(1): 7034.

Anxiety challenges co-occur at a high rate in autistic children and youth (~ 50-79%), often with significant interference with daily functioning. Evidence-based interventions (e.g., cognitive behavioral therapy (CBT)-based approaches) are effective in treating anxiety disorders across populations. Facing your fears (FYF), a group-based CBT program modified for youth with ASD, yields positive outcomes in controlled research settings and community implementation, but access is constrained by limited system capacity and families’ distance from specialized centers. COVID-19 spurred innovations in virtual delivery of care, generating possibilities for increased scalability of evidence-based treatments. This study investigated the feasibility, acceptability, and effectiveness of FYF when delivered virtually through a tertiary care hospital in Ontario. Data were collected over one year (N = 100 autistic children/youth aged 8-13 years and their caregivers). Significant improvements emerged in caregiver- and self-reported anxiety symptoms, and caregivers reported increased self-efficacy in supporting their child with their anxiety. Significant predictors of treatment response included youth baseline anxiety, level of adaptive functioning, ASD symptoms, and caregiver self-efficacy. Three COVID-related factors were small but significant contributors to the model. Virtual delivery of FYF is feasible and effective for treating elevated anxiety in autistic children/youth and may improve access.ClinicalTrials.gov identifier: NCT04666493.

Lien vers le texte intégral (Open Access ou abonnement)

5. Cannizzaro D, Capo G, Gionso M, Creatura D, De Robertis M, Anania CD, Stucchi E, Bellina E, Baram A, Brembilla C, Tomei M, Ortolina A, Morenghi E, Servadei F, Pessina F, Fornari M. Long-term risk of ASD in Isthmic Spondylolisthesis Treated with Posterior Interbody Fusion. World Neurosurg. 2025: 123822.

OBJECTIVE: Posterior Interbody fusion can be associated to adjacent segment disease (ASD) some years after surgery. The aim of this study is to confirm the rate of ASD in isthmic spondylolisthesis treated by posterior fusion. METHODS: Patients treated by posterior lumbar fusion were collected between January 2014 to June 2022. Inclusion criteria encompassed adults diagnosed with isthmic spondylolisthesis and available preoperative, postoperative, and FU radiological images. RESULTS: Out of the 140 patients included in the study, the majority were female (53.6%) with a mean age of 48.5 years. In 111 (79.3%) patients the spondylolisthesis was located at L5-S1; in 20 (14.3%) patients at L4-L5; 5 (3.6%) cases presented the defect at L4-L5-S1, and in 4 (2.8%) cases at L3-L4. In 75 (53.6%) patients, the listhesis was classified as Grade I (Meyerding); in 50 (35.7%) cases as Grade II; in 12 (8.6%) cases as Grade III; and in 3 (2.1%) cases as Grade IV. The average follow-up of this study was 67 (10-111) months. Two cases (1.43%, 95% CI: 0.17%-5.07%) of ASD were observed. Evaluations of clinical symptoms revealed a notable reduction in the average Numeric Rating Scale (NRS) score from 8 to 1.9 at the last follow-up. Postoperative PI-LL mismatch < 10 correlating with a favorable outcome (NRS ≤ 3). CONCLUSIONS: This study confirms data already present in the literature regarding the low incidence of ASD in patients who underwent surgery for isthmic spondylolisthesis. The posterior approach seems to remain a safe and effective technique in these patients.

Lien vers le texte intégral (Open Access ou abonnement)

6. Fjermestad KW, Lervik NH. « His brain works in a different way »: siblings’ understanding of autism. Front Psychiatry. 2025; 16: 1506057.

Siblings of autistic children are at increased risk of mental health problems. Lack of autism knowledge may contribute to this risk. We examined siblings’ autism knowledge using the Sibling Knowledge Interview (SKI) conducted by clinicians before a sibling intervention. The sample comprised 28 siblings (61% boys; 39% girls) aged 8 to 12 years. All had a brother or sister with a clinically confirmed autism diagnosis. Audiotaped recordings of the interviews were transcribed and analyzed thematically. We identified six main themes: (1) definition, including diagnostic label, localization, explanation, and etiology, (2) regulation-, behavior-, social-, and cognition-related challenges, (3) strengths, (4) health service and family-based interventions, (5) misconceptions, and (6) lack of knowledge. Siblings displayed some knowledge about the key aspects of autism but also expressed insecurity, lack of knowledge, confusion, and misconceptions. Siblings displayed a narrow vocabulary to describe their brother’s or sister’s autism diagnosis. Few siblings provided elaborate and rich answers. Several siblings provided vague descriptions. The youngest siblings had particularly few verbally rich answers and displayed limited knowledge. The findings indicate that siblings need more knowledge about their brother’s or sister’s autism diagnosis. Research is needed on how this information should be provided.

Lien vers le texte intégral (Open Access ou abonnement)

7. Gascón N, Baixauli I, Moret-Tatay C, Senent N. [Utility of LUI-Spanish for evaluating pragmatics in children with autism spectrum disorder]. Medicina (B Aires). 2025; 85 Suppl 1: 9-15.

INTRODUCTION: Pragmatics plays a crucial role in learning and socio-emotional adaptation and it is a core area of impairment in Autism Spectrum Disorder (ASD). The aim of this study is to examine the discriminant validity of the Spanish adaptation of the Language Use Inventory (LUI-Spanish), designed to assess pragmatic skills in children. MATERIALS AND METHODS: The study included 40 children diagnosed with ASD and 40 typically developing (TD) children, aged between 24 and 42 months. The LUISpanish, a parent-report measure of pragmatic language, was used to assess communication through gestures, words and sentences. The Mann-Whitney U test was employed for group comparisons. RESULTS: Statistically significant differences were found between the ASD and TD groups in most of the LUI scales, except for Part 1 and the scales included. The TD group consistently scored higher, with large effect sizes. The instrument demonstrates both theoretical and practical relevance for assessing early pragmatic skills and guiding appropriate interventions.

Lien vers le texte intégral (Open Access ou abonnement)

8. Gillespie-Smith K, Mair APA, Alabtullatif A, Pain H, McConachie D. A Spectrum of Understanding: A Qualitative Exploration of Autistic Adults’ Understandings and Perceptions of Friendship(s). Autism Adulthood. 2024; 6(4): 438-50.

BACKGROUND: Previous research has often documented that friendship is an area of difficulty for autistic people, however this may be caused by a neurotypical understanding of friendship. The current study aimed at adopting a more inclusive account of friendship, involving an autistic participant group representing a range of genders and communication preferences while exploring the following question-What are autistic adults’ perceptions of friendships? METHOD: Participants (n = 20) were interviewed using their preferred method of communication (speaking and non-speaking) during 2021-2022. RESULTS: The results showed that three main themes emerged under an overarching theme of A Spectrum of Understanding: Identity with Others, Sharing Value, and Shared Presence. The inclusive approaches used in the current study allowed under-researched autistic groups such as non-speaking autistic people and autistic people who identify as non-binary to participate in meaningful research. CONCLUSIONS: The study offers a new perspective on the Double Empathy theory, suggesting it may be helpful to conceptualize it as a continuum of neuro-cultural learning rather than a distinctive binary centered on an autistic-allistic misunderstanding. Increased understanding of friendships in autistic groups will help to increase awareness of social belonging and support that can protect against poor mental health outcomes. Community brief Why is this an important issue? For years, autistic perceptions of friendship have been viewed through a medicalized and neurotypical lens. Given the modern shifts away from a deficit-based medical model in autism research in response to the neurodiversity movement, it is important to understand autistic lived experiences as they are, rather than how neurotypical researchers think they ought to be. What was the purpose of the study? In this study, we are looking to better understand how autistic people themselves perceive and experience connections, such as friendship. Friendship is important for everyone, as it can provide a social support network and protect against poor mental health outcomes. What did the researchers do? The researchers interviewed 20 autistic people (including under-represented groups, such as trans, non-binary, and non-speaking autistic people) and asked about their perceptions of friendships. What were the results of the study? Three main themes emerged under an overarching theme of A Spectrum of Understanding. The three main themes are: (1) Identity with Others; (2) Sharing Value; and (3) Shared Presence. Identity with Others covers observations of friendships and being part of communities that value understanding while also encouraging learning to understand others. Sharing Value centers on how one feels within the friendship and how one values others. Finally, Shared Presence refers to the activities carried out within friendships that can help maintain these connections. What do these findings add to what was already known? The study offers a new perspective on the Double Empathy theory (Milton, 2012), which suggests that communication difficulties between autistic and allistic (i.e., non-autistic) are caused by mis-matched neurotypes. The current study extends this theory by considering neuro-cultural learning as part of a continuum, rather than a distinctive binary centered on an autistic-allistic misunderstanding. What are potential weaknesses in the study? Potential weaknesses in this study include the participant sample being from western countries; therefore, further research is needed to explore more intersectional facets, such as ethnicity and culture, in relationships and friendships. There was also a wide age range in the current sample, and future research may want to focus more on specific age groups to understand better how perceptions and experiences of friendships change across the lifespan. How will these findings help autistic adults now or in the future? The study offers a new perspective on the Double Empathy theory, highlighting the need to consider this as a continuum of understanding and learning and that misunderstandings can still take place in people of the same neurotype. The study also highlights how lockdowns during the COVID-19 pandemic have impacted relationships and that autistic people may need more support to tackle the adverse effects of isolation, given that friendships are valued by autistic people and protect against poor mental health outcomes. Overall, in contrast to a deficit-based perspective, this study shows that autistic individuals can have and maintain meaningful friendships with complex and nuanced conceptualizations, which ultimately center on the need to be/feel understood and to understand others. The researchers hope that this research will shed light on how friendships are perceived and experienced by autistic people, leading to increased awareness of social support needs, the importance of friendships for autistic individuals, and how further support is needed following the COVID-19 pandemic. eng.

Lien vers le texte intégral (Open Access ou abonnement)

9. Hervás A. [Autism Spectrum Disorders (ASD) and Obsessive Compulsive Disorder (OCD): a new approach from the DSM-5-TR and its management]. Medicina (B Aires). 2025; 85 Suppl 1: 36-41.

INTRODUCTION: Autism Spectrum Disorders (ASD) and Obsessive Compulsive Disorders (OCD) can be confused with each other but can also occur together, presenting a more severe clinical picture with a worse response to typical OCD treatment. OBJECTIVE: We review the current situation on the topic, the specific characteristics of both disorders, the implication of the changes to the DSM-5-TR, their evaluation and approach. CONCLUSIONS: ASD-OCD comorbidity presents atypicalities that require a detailed evaluation and adapted treatments.

Lien vers le texte intégral (Open Access ou abonnement)

10. Hu DX, Lu CM, Si XY, Wu QT, Wu LH, Zhong HJ, He XX. Effects of gastrointestinal symptoms on the efficacy of washed microbiota transplantation in patients with autism. Front Pediatr. 2025; 13: 1528167.

OBJECTIVE: Washed microbiota transplantation (WMT) has emerged as a promising therapeutic strategy for autism spectrum disorder (ASD), though the factors that influence its efficacy remain poorly understood. This study explores the impact of gastrointestinal (GI) symptoms on the effectiveness of WMT in ASD. METHODS: Clinical data encompassing ASD symptoms, GI disturbances, and sleep disorders were collected from patients with ASD undergoing WMT. The therapeutic impact of WMT and the contributing factors to its efficacy were assessed. RESULTS: WMT significantly reduced scores on the Aberrant Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), and Sleep Disturbance Scale for Children (SDSC), alongside a significant reduction in the incidence of constipation, abnormal stool forms, and diarrhea (all p < 0.05). After six courses of WMT, substantial reductions were observed in ABC, CARS, and SDSC scores, with increased treatment courses correlating with greater improvement (p < 0.05). Multiple linear regression analysis revealed that WMT efficacy was enhanced in patients with pre-existing GI symptoms (diarrhea: β = 0.119, p < 0.001; abnormal stool form: β = 0.201, p < 0.001) and those receiving a higher number of treatment courses (β = 0.116, p < 0.001). Additionally, the analysis indicated that treatment outcomes were more favorable in patients who had not undergone adjunct interventions (β = -0.041, p = 0.002), had a longer disease duration (β = 0.168, p = 0.007), and exhibited more severe disease symptoms (β = 0.125, p < 0.001). CONCLUSION: WMT significantly alleviates both ASD and GI symptoms, along with sleep disturbances, in affected individuals. Six treatment courses resulted in notable improvement, with increased course numbers further improving therapeutic outcomes. Furthermore, pre-treatment GI symptoms, such as diarrhea and abnormal stool forms, may influence the effectiveness of WMT. Notably, patients who did not receive additional interventions, had a prolonged disease duration, and presented with more severe symptoms experienced markedly improved treatment responses.

Lien vers le texte intégral (Open Access ou abonnement)

11. Hur A, Chung S, Jeon H, Lee H, Shin YW, Son JW. Investigating Disembodiment-related Brain Activation by Interaction between Perspective-shifting and the Experience of Agency in Autism Spectrum Disorder: A Possible Relationship with Interoceptive Abilities. Clin Psychopharmacol Neurosci. 2025; 23(1): 86-99.

OBJECTIVE: Many studies have explored sense of self in individuals with autism spectrum disorder (ASD); however, few have reported on their experience of « disembodiment. » This study aimed to investigate the differences in brain activity between patients with ASD and neurotypicals (NTs) under conditions causing disembodiment and to examine the correlation between their interoceptive abilities and disembodiment-related brain activity. METHODS: 18 Participants with ASD and 21 NTs completed psychological evaluations, interoceptive abilities measurement, and functional magnetic resonance imaging (fMRI). The fMRI images were taken while the participants performed tasks involving ball-throwing animations. The task focused on either self-agency related to ball-throwing (Agency Task) or the spatial location of a ball (Location Task). The animations were presented from constantly changing perspective (Changing View) or fixed perspective (Fixed View). The disembodiment-related condition was the interaction between the Agency Task and Changing View. RESULTS: Participants with ASD exhibited higher activation than NTs in regions near the left parieto-temporo-occipital junction, left precuneus, left hippocampus, and other brain areas. Furthermore, interoceptive accuracy was negatively correlated with the activity of the left superior parietal and posterior midcingulate areas, whereas interoceptive trait prediction error was positively correlated with the activity of the left hippocampus, mid-temporal area, and left posterior cingulate area in participants with ASD. CONCLUSION: These results suggest that disembodiment-related brain activation might be easily manifested by the interaction between perspective-shifting and the experience of agency, and that interoceptive abilities might be related to disembodiment-related brain activation in individuals with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

12. Kammer PV, de Souza BB, da Silva Moro J, Martins-Júnior PA, Cardoso M, Santana CM, Bolan M. Inclusive Dentistry? Mapping the Landscape of Autism and Dentistry Research through Bibliometric Analysis. J Autism Dev Disord. 2025.

Conduct a bibliometric analysis of articles related to dentistry and autism. A search strategy was constructed and conducted at the Web of Science database. The following information was extracted from each paper: title, authorship, year of publication, title of the journal, study subject dental care, oral health status, dental behavior support), study design, and number of citations. A total of 2,637 articles were obtained from the WoS-CC search. After selection, 422 papers were included, published from 1996 to 2024, and had 6,728 citations. Observational studies constituted most publications (214 papers). Among the focus of published articles, « oral health status » emerged as the predominant subject followed by « dental behavior support ». More than half of the included papers were published in the last five years, accounting for 70.6% of the total. There has been a notable increase in research publications on autism and dentistry over time, primarily comprising observational studies. The predominant themes revolved around oral health status and dental behavior support.

Lien vers le texte intégral (Open Access ou abonnement)

13. Lee JYS, Whittingham K, Mitchell AE. AutInsight: A Pilot Randomised Controlled Trial (RCT) of a Consumer-Informed Parent Support Program for Parents of Autistic Children. J Autism Dev Disord. 2025.

AutInsight is an innovative, consumer-informed parent support program for parents of autistic children grounded in perspectives from qualitative research with autistic adults. The current study outlines the development and evaluation of AutInsight through a pilot randomised controlled trial. Parents (N = 41) of autistic children (10 years and younger) were randomly allocated to AutInsight (n = 20) or care-as-usual (n = 21) and completed online questionnaires across three timepoints (baseline, post-program and 3-month follow-up). Measures include parental sensitivity, parental acceptance and understanding, psychological flexibility, mindful parenting, parental mental health, overall family experience, quality of life, and child behaviours. Intent-to-treat analyses indicated greater rates of improvement for parents allocated to the AutInsight program, with small- to medium-sized effects for parent-reported parental sensitivity (EA-SR mutual attunement d = 0.84, EA-SR child involvement d = 0.50), as well as overall autism family experience (AFEQ(total) d = 0.38, AFEQ(family life) d = 0.29). Greater rates of improvement were also found in parent-reported child conduct problems (SDQ d = 0.62) and prosocial behaviours (SDQ d = 0.48). No significant results were found in observed parental sensitivity or any other measure. Results suggest preliminary evidence of effectiveness, feasibility and acceptability of the AutInsight program. A larger, fully powered trial is warranted. This trial was prospectively registered with the Australian and New Zealand Clinical Trials Registry (Trial ID: ACTRN12623000806662).

Lien vers le texte intégral (Open Access ou abonnement)

14. Maddalon L, Minissi ME, Alcañiz M. [Early diagnosis of ASD using biomarkers: a narrative review]. Medicina (B Aires). 2025; 85 Suppl 1: 3-8.

Autism Spectrum Disorder (ASD) encompasses a range of neurodevelopmental conditions characterized by social challenges, repetitive behaviors, and communication difficulties. While diagnosis traditionally relies on behavioral observations, new biomedical approaches, such as the Research Domain Criteria (RDoC), aim to identify biomarkers that integrate genetic, neural, and behavioral factors. Notable biomarkers include genetic variants, molecular alterations such as abnormal neurotransmitter levels, and markers associated with immune dysfunction. Brain organoids have also enabled the investigation of specific neural mechanisms. In neuroimaging, techniques such as functional magnetic resonance imaging (fMRI) and functional near-infrared spectroscopy (fNIRS) have identified atypical connectivity patterns in infants at high risk for ASD. Similarly, measures like electroencephalography (EEG) and eye tracking have revealed differences in visual attention and brain activity, while physiological indicators such as electrodermal activity (EDA) and heart rate variability (HRV) reflect sensory and autonomic dysfunctions. The use of digital biomarkers is rapidly growing, with devices like tablets and virtual reality capturing data on children’s interactions. Analyzed using artificial intelligence, these data show promise for improving early ASD detection, though further validation is needed. Integrating traditional and digital approaches is essential for advancing diagnosis and intervention strategies.

Lien vers le texte intégral (Open Access ou abonnement)

15. Martini MI, Kuja-Halkola R, Butwicka A, Du Rietz E, Kanina A, Brikell I, Chang Z, Larsson H, Lichtenstein P, Bölte S, Happé F, Taylor MJ. Sex differences in psychiatric diagnoses preceding autism diagnosis and their stability post autism diagnosis. J Child Psychol Psychiatry. 2025.

BACKGROUND: Autistic individuals often receive psychiatric diagnoses prior to their autism diagnosis. It remains unclear to what extent autistic females and males differ in their likelihood of receiving psychiatric diagnoses prior to their autism diagnosis and continue seeking care for them after an autism diagnosis. METHODS: In a nationwide cohort of all individuals born in Sweden 1990-2015 with a clinical autism diagnosis (N = 72,331, n(females) = 24,110), we used linear and logistic regression to estimate the association between sex and (a) psychiatric diagnoses before autism diagnosis, including time trends by autism diagnosis year (2010-2020), (b) autism diagnosis age in those with preceding diagnoses, (c) stability of preceding diagnoses (defined as continued care utilization indicated through diagnosis or medication in the 5 years following autism diagnosis). RESULTS: In total 54.2% of autistic females and 40.9% of autistic males received at least one preceding psychiatric diagnosis (most common: ADHD, anxiety, depression). Autistic females showed higher odds than males for most preceding psychiatric diagnoses (OR(range) = 1.29 [1.18, 1.41]-10.69 [8.06, 14.17]), except psychotic disorders (OR = 0.91 [0.78, 1.06]) and ADHD (OR = 0.69 [0.66, 0.71]). Sex differences in preceding diagnoses were persistent across different autism diagnosis years (2010-2020). For most conditions, females with a preceding diagnosis were diagnosed with autism later than males with the same condition. For both sexes, the stability of preceding diagnoses varied considerably (23.1%-88.9%) and was less than 50% for most diagnoses. Females showed a higher stability for anxiety, sleep disorders and self-harm (OR(range) = 1.45 [1.30, 1.62]-2.37 [1.93, 2.90]), and males for psychotic disorders (OR = 0.60 [0.44, 0.81]). CONCLUSIONS: Autistic females are more likely to be diagnosed with psychiatric conditions prior to an autism diagnosis and receive care for them post autism diagnosis. Our findings emphasize the variability of clinical presentation and importance of disentangling persistent support needs from overlapping diagnostic presentations, particularly in autistic females, to provide appropriate and timely care.

Lien vers le texte intégral (Open Access ou abonnement)

16. Martos Pérez J, Llorente Comí M. [Inflexibility in autism spectrum disorder]. Medicina (B Aires). 2025; 85 Suppl 1: 57-62.

In this paper we have tried to give an overview of the way in which inflexibility manifests itself in people with ASD, the physiological and psychological factors that can trigger it, as well as the main reasons behind those behaviours that fall under the term inflexibility. We have also provided some guidelines on intervention with the aim of helping to reconsider and guide the approach to this type of behaviour, always based on respect and understanding.

Lien vers le texte intégral (Open Access ou abonnement)

17. McQuaid GA, Strang JF, Jack A. Borderline Personality as a Factor in Late, Missed, and Mis-Diagnosis in Autistic Girls and Women: A Conceptual Analysis. Autism Adulthood. 2024; 6(4): 401-27.

Autism without intellectual disability is diagnosed later and with greater difficulty in girls/women relative to boys/men. For autistic girls and women, the journey to an autism diagnosis may include one or more misdiagnoses. Misdiagnosis with borderline personality disorder (BPD) or borderline traits may be particularly common, and characteristics often observed in autistic girls and women may contribute specifically to a risk of misdiagnosis with BPD. This review draws from a burgeoning literature on autism in girls and women to provide a detailed discussion of differential diagnosis of BPD and autism in cisgender girls/women, with a focus on phenotypic traits and/or their presentation that may be more common in autistic girls/women and that may be particularly prone to miscategorization as BPD. Distinctions between autism and BPD are identified, emphasizing the need for scrutiny of an individual’s clinical presentation to tease apart differences between the autism and BPD phenotypes. We highlight instances in which similar phenotypic expressions may be driven by differing underlying factors. Implications for the distinction of autism and BPD/borderline traits in informing appropriate therapeutic intervention are discussed. Community brief Why is this topic important? Autistic girls/women may be more likely to get an autism diagnosis late (or not at all). They may also be more likely to get misdiagnoses of mental health conditions. These misdiagnoses might interfere with getting an appropriate autism diagnosis. Later age at autism diagnosis is associated with more mental health problems. This makes understanding factors related to delayed or missed diagnosis in autistic girls/women important to autistic well-being. What is the purpose of this article? Autistic girls/women may be at risk for misdiagnosis with borderline personality disorder (BPD). In this article, we discuss why this may be. Autistic girls/women may meet the diagnostic criteria for autism in different ways relative to autistic boys/men. This different presentation of autism may not be recognized by the professionals these girls/women go to for a diagnosis. These girls/women may also mask or camouflage autistic traits. This means that they might not be referred to medical professionals until they are older. If an autistic girl/woman first sees a diagnostic professional in adolescence or adulthood, that professional might only consider their current presentation. Early developmental differences related to autism might be overlooked. These girls and women may not be screened for autism and instead receive a diagnosis of a mental health condition, such as BPD. This article reviews each of the diagnostic criteria for BPD. We show how differences in the ways some autistic girls/women present with autism, combined with a lack of awareness by mental health professionals regarding what autism can look like in girls/women (vs. boys/men), may contribute to a diagnosis of BPD or borderline personality traits. What do the authors suggest? We suggest that clinicians look carefully at the presentation of girls/women who are referred to them and in whom BPD is suspected. We lay out potential ways to distinguish autism as presented in girls/women from BPD. Mental health professionals should collect a comprehensive history of neurodevelopment. We point to the importance of understanding the different ways that girls and women may present with autism. We talk about the role that camouflaging may play in changing how girls and women may present with autism. We discuss how this may change over the course of development. We also discuss how this may change when a person is in the presence of a mental health professional. How will this study help autistic adults now and in the future? This study aims to raise awareness of factors that may make it more likely for an autistic girl/woman to get a diagnosis of BPD. Just as there may be a sex/gender-related bias against the diagnosis of autism in girls/women, there may be a sex/gender-related bias toward diagnosing BPD in girls/women. Drawing awareness to these biases and showing how the diagnostic criteria of BPD can be incorrectly applied to certain presentations of autism will help reduce misdiagnosis of autistic people and thus improve well-being for autistic adults. eng.

Lien vers le texte intégral (Open Access ou abonnement)

18. Pantiru AD, Van de Sompele S, Ligneul C, Chatelain C, Barrea C, Lerch JP, Filippi BM, Alkan S, De Baere E, Johnston J, Clapcote SJ. Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice. Mol Autism. 2025; 16(1): 14.

BACKGROUND: Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is a rare syndromic intellectual disability (ID) caused by homozygous disruption of PDZD8 (PDZ domain-containing protein 8), an integral endoplasmic reticulum (ER) protein. All four previously identified IDDADF cases exhibit autistic behavior, with autism spectrum disorder (ASD) diagnosed in three cases. To determine whether autistic behavior is a common outcome of PDZD8 disruption, we studied a third family with biallelic mutation of PDZD8 (family C) and further characterized PDZD8-deficient (Pdzd8(tm1b)) mice that exhibit stereotyped motor behavior relevant to ASD. METHODS: Homozygosity mapping, whole-exome sequencing, and cosegregation analysis were used to identify the PDZD8 variant responsible for IDDADF, including diagnoses of ASD, in consanguineous family C. To assess the in vivo effect of PDZD8 disruption on social responses and related phenotypes, behavioral, structural magnetic resonance imaging, and microscopy analyses were conducted on the Pdzd8(tm1b) mouse line. Metabolic activity was profiled using sealed metabolic cages. RESULTS: The discovery of a third family with IDDADF caused by biallelic disruption of PDZD8 permitted identification of a core clinical phenotype consisting of developmental delay, ID, autism, and facial dysmorphism. In addition to impairments in social recognition and social odor discrimination, Pdzd8(tm1b) mice exhibit increases in locomotor activity (dark phase only) and metabolic rate (both lights-on and dark phases), and decreased plasma triglyceride in males. In the brain, Pdzd8(tm1b) mice exhibit increased levels of accessory olfactory bulb volume, primary olfactory cortex volume, dendritic spine density, and ER stress- and mitochondrial fusion-related transcripts, as well as decreased levels of cerebellar nuclei volume and adult neurogenesis. LIMITATIONS: The total number of known cases of PDZD8-related IDDADF remains low. Some mouse experiments in the study did not use balanced numbers of males and females. The assessment of ER stress and mitochondrial fusion markers did not extend beyond mRNA levels. CONCLUSIONS: Our finding that the Pdzd8(tm1b) mouse model and all six known cases of IDDADF exhibit autistic behavior, with ASD diagnosed in five cases, identifies this trait as a common outcome of biallelic disruption of PDZD8 in humans and mice. Other abnormalities exhibited by Pdzd8(tm1b) mice suggest that the range of comorbidities associated with PDZD8 deficiency may be wider than presently recognized.

Lien vers le texte intégral (Open Access ou abonnement)

19. Peachey M, Crane L. « I Don’t Understand Their Sense of Belonging »: Exploring How Nonbinary Autistic Adults Experience Gender. Autism Adulthood. 2024; 6(4): 462-73.

BACKGROUND: The term « nonbinary » refers to all gender identities that are not exclusively male or female. Nonbinary identities are more common in autistic people than in nonautistic people. Yet research meaningfully exploring the unique intersection between autism and nonbinary identities is limited. Furthermore, little is known about how the experience of being nonbinary and autistic impacts access to autistic and queer communities; spaces that can protect against poor mental health outcomes. METHODS: We examined: (1) how nonbinary autistic people make sense of gender and (2) how they negotiate community. A participatory approach was adopted, involving a consulting group of 18 nonbinary autistic people at every stage of the research process. A separate group of five nonbinary autistic adults from the United Kingdom took part in semistructured interviews about autism, gender, and community. We analyzed interviews using Interpretative Phenomenological Analysis. RESULTS: Within an emergent framework (gender as two dimensional), we identified three themes: (1) Where do I belong? (2) (Re)framing difference. (3) Space to be (neuro)queer. Participants understood that being autistic and nonbinary problematized how they connected with « gender, » a self-defined concept of high significance. Crucially, the queer community was felt to facilitate positive identity development, but participants emphasized a continued struggle with being misunderstood, largely by their nonautistic peers. CONCLUSION: This study celebrates neuroqueer ways of being. We recommend that nonautistic people are given improved education on nonbinary autistic identities; supporting autistic people to understand their differences and facilitating positive identity development within queer spaces. Creating autistic-led community groups is furthermore key, due to the linguistic and embodied complexities of autistic gender identities. Community brief Why is this an important issue? People who are nonbinary do not feel like men or women. They might feel like a mix of both, or like they have no gender at all. Autistic people are more likely than nonautistic people to be nonbinary, but we do not know much about the unique experiences of nonbinary autistic people. Much of the existing research on this topic tends to treat nonbinary autistic people as in need of “fixing” or “changing,” or proposes theories that suggest autistic people tend to think more like men than women. What was the purpose of this study? We wanted to learn two things about the experiences of nonbinary autistic people: (1) how they make sense of gender and (2) if/how they access autistic or queer communities. Queer is a term sometimes used to refer to people who are not exclusively attracted to the opposite sex or people who do not identify with their gender assigned at birth. Research has shown that access to autistic and queer communities can help to protect against poor mental health outcomes. What did the researchers do? The lead researcher, Mary Peachey (who is autistic and nonbinary), asked a group of 18 nonbinary autistic people about what the research should focus on. This group advised Mary throughout the whole study. Mary then completed interviews with five nonbinary autistic adults from the United Kingdom, to look at the following: (1) how they understand gender and (2) how they connect with other queer people. Data were analyzed using a method called Interpretative Phenomenological Analysis (IPA). In IPA, research participants are viewed as experts of their own experience. The researchers act as interpreters, looking for what participants understand to be important, as well as what was particular to their experience. What were the results of the study? We found that being nonbinary and autistic complicated how participants understood themselves and related to others. Connecting to other autistic and queer people, however, helped participants to accept their identities, often after years of hiding their true selves to survive. What do the findings add to what was already known? This is, as far as we are aware, the first study to look at how nonbinary autistic people make sense of their identities and find like-minded communities. What are the potential weaknesses in the study? None of the participants had a learning disability or were people of color. More research should be done in this area so we can learn about different intersecting identities. How will these findings help autistic adults now or in the future? This study celebrates queer autistic ways of being. We recommend that autistic people be supported with understanding their identity through encouraging interactions within the queer community. We also call for greater education on nonbinary autistic identities for nonautistic people. For an easy read version of the whole research article, please visit: https://osf.io/ya45b/. eng.

Lien vers le texte intégral (Open Access ou abonnement)

20. Powell T, Parker J, Kitson H, Rogalewski M. « It Was Like the Final Piece in the Puzzle for Me »: A Qualitative Study on the Experiences of Autistic Women Initially Diagnosed with Borderline Personality Disorder. Autism Adulthood. 2024; 6(4): 428-37.

BACKGROUND: Women who self-harm and experience complex mental health difficulties are frequently diagnosed with borderline personality disorder (BPD), also known as emotionally unstable personality disorder. Emerging research suggests that self-harm may often be better explained through the lens of autism, and that greater consideration should be given to the clients’ motivations for self-harm. How time alone is experienced may also be a differentiating factor. The objective of this study was to investigate individuals’ perceptions of a change in diagnosis, experiences of self-harm, and fear of real or imagined abandonment, with the aim of improving the accuracy of initial diagnosis. METHOD: Eight women, first diagnosed with BPD, then autism, and with a history of self-harm and multiple admissions to a psychiatric hospital, underwent a semistructured interview, which was recorded, transcribed, and analyzed using thematic analysis. RESULTS: Three main themes and 11 subthemes were identified. Theme one centers around participants’ « Journey through the diagnostic and therapeutic jungle. » Theme two is entitled « Self-harm as a developed and systematic way of coping. » Theme three is entitled « Alone is not abandoned. » CONCLUSIONS: Better awareness and understanding of the subtle differences between BPD and autism are essential, as misdiagnosis leads to misinformed treatments, which are often contraindicative. Recognition of these specific, differentiating traits is most evident with a detailed neurodevelopmental history. This study suggests two potential factors for consideration in a neurodevelopmental history: first, the triggers and functions of self-harm, which often starts early in childhood, and second, limited awareness or absence of feelings of fear of abandonment alongside contentment with spending time alone. Community brief Why is this an important issue? Undiagnosed autistic women may be diagnosed with borderline personality disorder (BPD), often based upon a history of self-harm and co-occurring mental health difficulties. This can lead to inappropriate and costly psychological treatments and the person not finding an appropriate understanding of themselves. What was the purpose of this study? The purpose of this study is to understand the experiences of eight autistic women to improve accuracy of diagnosis. This study also aims to explore issues around “self-harm” and what underlies it, the experience of “time alone,” and “sensitivities to abandonment.” What did the researchers do? We interviewed eight women who were initially diagnosed with BPD, then as autistic. All women had a history of self-harm, and multiple admissions to a psychiatric hospital. Interviews were recorded, transcribed, and analyzed in a way that highlighted common themes. What were the results of the study? People interviewed found that having multiple previous diagnoses or having diagnoses changed was confusing. Comparatively, a subsequent autism diagnosis felt similar to “the final piece of the puzzle.” These previous diagnoses often focused on self-harm as a signifier of BPD, although for the majority, this did not feel similar to a fitting diagnosis. For participants, self-harm was a way of coping from an early age, with poorly understood autistic frustrations (e.g., sensory, change, uncertainty, social) and less about interpersonal relationships. It was also systematic and planned, as a way of regaining control. Participants reported that they were generally comfortable with “time alone,” or time away from others. While friends were viewed as important, an absence of contact was generally not associated with feelings of abandonment, which are often attributed to BPD. Furthermore, emotions such as jealousy, possessiveness, and dependency were often difficult for participants to understand and identify with. Individuals talked about how eventually finding self-understanding through an autistic lens helped them to contextualize their early and current life experiences. What do these findings add to what we already know? This study highlights the need for clinicians to improve the approach to diagnosis. Our findings potentially suggest two new factors for consideration. First, self-harm often occurred at an early age and can be attributed to characteristics of autism, rather than interpersonal reasons. Second, most participants did not experience lack of contact from others as “real or imagined abandonment,” a core diagnostic feature of BPD. Instead, they were often content with time away from others. What are the potential weaknesses in the study? This is a small-scale study based on self-report of experiences of only a self-selecting group. The autistic community is diverse, and a larger study may be more representative of a wider demographic. How will these findings help autistic adults now or in the future? Hopefully, the results of the study will help to improve understanding of autistic women, particularly around self-harm. Ultimately, the aim is to improve accuracy of diagnosis, which might mean retaining a curiosity around possible “personality disorder,” without making assumptions when assessing a woman with a history of self-harm. eng.

Lien vers le texte intégral (Open Access ou abonnement)

21. Ruggieri V. [Autism and burnout]. Medicina (B Aires). 2025; 85 Suppl 1: 63-8.

Autism is a neurodevelopmental disorder with a neurobiological basis characterized by deficits in social cognition and communication, restricted interests and stereotyped behaviors. It is frequently associated with sensory dysfunctions, other neurodevelopmental disorders, neuropsychiatric disorders, epilepsy and/or sleep disorders. This condition will accompany people throughout their lives, which will generate various needs for support and treatments. This spectrum of social, cognitive, communication, neuropsychiatric and clinical dysfunctions means that people with autism are subjected to great social pressure to meet expectations and relate appropriately, which can lead to great fatigue with consequences such as exhaustion (burnout) that can affect their physical and mental health and increase social withdrawal. Additionally, exhaustion can occur in the family, teachers and therapists with serious commitment to physical and mental health and in the workplace. Although burnout is a very present topic in the autistic community, it is rarely addressed in professional settings. In this paper I will address burnout in autistic people, their families, teachers and professionals by analyzing its triggers, clinical manifestations and prevention or mitigation.

Lien vers le texte intégral (Open Access ou abonnement)

22. Sagar E, Khera SN, Garg N. « I Wish They’d Just Let Us Be. » Experiences of Indian Autistic Individuals Around Stimming Behaviors at the Workplace. Autism Adulthood. 2024; 6(4): 474-84.

BACKGROUND: Stereotyped or repetitive motor movements are a core feature of autism. In recent years, autistic individuals have asserted themselves by reclaiming these repetitive movements as « stimming. » There is growing evidence in the form of scientific research regarding the usefulness of stereotypie movements. Recent research has captured the perspectives of autistic adults on stimming. However, to date, no research has examined the perspective of Indian autistic individuals around the display of stimming behaviors at the workplace. METHODS: We used semi-structured interviews and online focus groups to ask 20 Indian autistic individuals to share their experiences centered around stimming at Indian workplaces. Data obtained were analyzed using qualitative thematic analysis. RESULTS: The thematic analysis helped us identify three major themes: (1) stimming as a (beneficial) coping mechanism, (2) repercussions of stim suppression, and (3) (De)stigmatization of stimming. CONCLUSION: Most Indian workplaces lack workplace accommodations to reduce sensory overload on autistic employees. Hence, Indian managers open to employing autistic individuals must accept stimming as an autistic individual’s attempt at managing overwhelming emotions brought on by sensory overload. Acceptance of stimming behaviors by nonautistic managers would not only benefit the autistic employee by aiding them in better managing their mental and emotional health but also benefit the organization by allowing the autistic employee to function at peak productivity levels. Thus, Indian managers and colleagues of autistic employees should work to accommodate, support, and understand the stimming behaviors of autistic employees as opposed to judging them in a negative light. Community brief Why is this an important issue? Indian business organizations are still new to the idea of employing autistic individuals. However, accommodating autistic individuals requires a shift in the mindset of nonautistic managers and colleagues of autistic employees toward the unique traits of autistic employees. Visible traits may include stimming behaviors displayed by autistic individuals. Stimming is an abbreviation of self-stimulatory behaviors, which include hand-flapping, rocking, jumping, twirling, head banging, or other complex bodily movements. Although autistic and nonautistic individuals perform stimming behaviors, autistic individuals rely on stimming behaviors much more than nonautistic individuals. Autistic individuals may rely on stims as a source of enjoyment, to gain sensory input, to reduce sensory input, and to deal with stressful situations. Nonautistic managers and colleagues who lack awareness may misunderstand these stimming behaviors, leading to stigmatization and ostracizing of autistic individuals. Thus, this study is an attempt to highlight the significance of stimming behaviors for autistic individuals and to normalize these behaviors in an organizational setting. What was the purpose of this study? To study the experiences of Indian autistic individuals around stimming behaviors displayed by them in the workplace and beyond. What did the researchers do? Researchers conducted semi-structured interviews with 15 autistic adults employed in predominantly neurotypical workplaces in India to study their experiences around stimming behaviors displayed by them in an office setting. The semi-structured interviews were followed by a focus group discussion with five more autistic individuals to gain a holistic understanding of Indian autistic individuals’ experiences related to stimming in public spaces. What were the results of the study? Three themes were identified from the study: (1) stimming as a (beneficial) coping mechanism described stimming as a coping mechanism that helped autistic employees deal with intense emotions, achieve mental clarity, and improve their productivity; (2) repercussions of stim suppression, which included terrible mental health, reduced productivity, and increased stress; and (3) (de)stigmatization of stimming described the stigma associated with stimming behaviors for autistic employees and ways to promote acceptance of stimming behaviors. What do these findings add to what was already known? Findings highlight the importance of stimming behaviors for autistic individuals employed in predominantly neurotypical Indian workplaces that lack suitable workplace accommodations for them. Findings also underscore the double empathy problem. The term double empathy was initially coined to describe the communication breakdown between autistic and nonautistic individuals due to the difference in their communication styles. However, it can be extended to nonautistic individuals’ reactions to autistic stimming behaviors. Stimming behaviors are misunderstood by nonautistic individuals as they may fall outside the societal standards of appropriate conduct. What are potential weaknesses in the study? The study was limited to those autistic individuals who had a social media presence, were fluent in English, did not have an intellectual disability, and were verbal. How will these findings help autistic adults now or in the future? Through this study, we hope to spread awareness among nonautistic Indian managers about the significance of stimming behaviors in the lives of autistic employees. eng.

Lien vers le texte intégral (Open Access ou abonnement)

23. Schmidt EK, Williams M, Gimah L, Espinosa SM, Hickman R. Supports and Barriers to Inclusive Workplaces for LGBTQIA+ Autistic Adults in the United States. Autism Adulthood. 2024; 6(4): 485-94.

BACKGROUND: Autistic people and lesbian, gay, bisexual, transgender, queer, intersex, asexual, and people of other sexuality or gender minorities (LGBTQIA+) experience worse unemployment rates than allistic or cisgender, straight people. Yet, there is limited research to understand the employment experiences of people with both autistic and LGBTQIA+ identities. Therefore, in this study, we aim to describe the barriers and supports for inclusion in the workplace for autistic LGBTQIA+ adults. METHODS: This analysis utilized data from a larger mixed method, participatory research study, including qualitative data from 35 LGBTQIA+ autistic adults who were working part- or full-time. Participants were engaged in a semi-structured interview or a focus group. Data were analyzed using an interpretative phenomenological analysis. An audit trail, checks for representativeness, and negative case analysis were utilized to promote trustworthiness of data analysis. RESULTS: Several factors contributed to participants’ feelings of inclusion or exclusion within workplace settings. « Red flags » such as safety concerns, accessibility issues, stereotyping, and challenges with communication contributed to feelings of exclusion and the need for compartmentalization of identities. Contrarily, « green flags » such as workplace culture, representation, and accessibility contributed to increased feelings of inclusion and comfort disclosing identities. CONCLUSIONS: Our findings suggest that many LGBTQIA+ autistic individuals compartmentalize certain identities to protect themselves due to oppressive workplace settings, but this can be detrimental to one’s well-being and contribute to autistic burnout. These findings suggest multiple recommendations to improve inclusion in workplace settings, as well as various next steps for future research. Community brief Why is this an important issue? LGBTQIA+ and autistic adults face increased risks of unemployment and underemployment as a result of discrimination. Although the workforce statistics of both of these groups is well understood, many autistic adults identify as LGBTQIA+, and there is very little research exploring this intersecting group’s experience in the workforce. What was the purpose of the study? We wanted to identify and describe barriers and supports for autistic LGBTQIA+ adults in the workforce regarding their employment status and overall well-being as a result of workplace influences. What did the researchers do? We interviewed 35 autistic and LGBTQIA+ adults who were currently employed. The interview guide was created by the research team who were led by autistic LGBTQIA+ researchers. The interviews not only included questions that allowed participants to speak on guided topics but also allowed them to speak on things that were not planned as a way to accurately represent their experiences. We then analyzed all the transcripts from the interviews and organized the data by topics that were agreed upon by the research team. These topics were then closely assessed to create themes that painted a picture of autistic LGBTQIA+ experiences in the workforce. What were the results of the study? We found that participants look for “red flags” (safety concerns, accessibility issues, stereotyping, and challenges with communication) in fear of experiencing discrimination at work that causes feelings of exclusion. This results in people deciding to hide part of their identity, which is known as compartmentalization, and is detrimental to their mental health and quality of life. On the contrary, “green flags” (positive workplace culture, representation of diversity, and accessibility) led to feelings of inclusion and helped people feel more comfortable being openly autistic and/or LGBTQIA+. What do these findings add to what was already known? It is generally understood that individuals with multiple minority identities experience unique discrimination that is specific to the layering and complexity of their overall identity. What these findings add are the intricacies of how this specific group, autistic LGBTQIA+ adults, experience that discrimination, and also what part of current workplace policies and culture is positively affecting them. What are potential weaknesses in the study? The participants recruited were mostly young adults with low support needs. All were also able to communicate verbally, all of which can contribute to not being 100% representative of the autistic LGBTQIA+ workforce. How will these findings help autistic adults now or in the future? These findings produced recommendations that were reported directly from the autistic LGBTQIA+ community. This should help to guide future researchers, employers, coworkers, and policymakers on how to improve their employment experiences. eng.

Lien vers le texte intégral (Open Access ou abonnement)

24. Shrestha A, Parajuli B, Pandit A. Case Report of 49,XXXXY Syndrome: A Rare Variation of Klinefelter Syndrome With Seizure Disorder and ASD. Clin Case Rep. 2025; 13(3): e70257.

This case report presents a rare occurrence of 49,XXXXY syndrome in a 14-month-old male, the first documented case from Nepal, highlighting several distinctive clinical features. The patient had a height and weight below the third centile at birth and exhibited dysmorphic facial features, including a flat facial profile, flat nasal bridge, broad nose, low-set ears, and clinodactyly, along with genital anomalies like micropenis and small testes. Neurologically, he demonstrated generalized hypotonia and global developmental delay. Atrial septal defect (ASD), left to right shunt, and mild tricuspid regurgitation were identified via echocardiography, adding to the complexity of the clinical presentation. Cytogenetic analysis of peripheral blood confirmed the 49,XXXXY karyotype in all 30 cells analyzed. The child also presented with a seizure episode at 11 months, a relatively uncommon manifestation in 49,XXXXY syndrome, which required symptomatic management. Neuroimaging revealed multiple abnormalities: A contrast-enhanced computed tomography scan of the head showed mild hydrocephalus, while magnetic resonance imaging (MRI) findings included mild restricted diffusion in the bilateral frontal and parietal subcortical white matter, white matter volume loss around the lateral ventricles, and previously unreported anomalies, such as aplasia of the frontal and sphenoid paranasal sinuses and aplasia of the left transverse and sigmoid dural venous sinuses. These findings emphasize the need to recognize 49,XXXXY syndrome as a separate clinical entity from Klinefelter syndrome due to its unique features and severe cognitive and physical impairments. This case underscores the importance of comprehensive genetic evaluation and individualized, multidisciplinary management strategies for patients with rare chromosomal abnormalities. Further research is warranted to better understand the syndrome’s unique clinical presentations and develop optimal therapeutic interventions.

Lien vers le texte intégral (Open Access ou abonnement)

25. Silva E, Hoffmann L, Castro K, Verly Junior E, Valle S, Vaz J. Nutrient intake variability and number of days needed to estimate usual intake in children and adolescents with autism spectrum disorder. Br J Nutr. 2025: 1-24.

Children and adolescents diagnosed with autism spectrum disorder (ASD) present feeding problems that may influence food acceptance and refusal. However, data regarding dietary intake variability in this population are either not available in the literature or not well-known. This cross-sectional study aimed to identify the within-person and between-person variability, and the number of days needed for a 24-hour recall (24HR) to estimate the usual intake of children and adolescents with ASD. Data were collected from 284 patients assisted at a public neuropediatric health service in the city of Pelotas, Southern Brazil. Food consumption was assessed using three non-consecutive 24HR. Within-person (S(2)(w)) and between-person (S²(b)) variances, the variance ratio (VR), and the distribution of energy, macronutrients, and micronutrients were obtained using the Multiple Source Method® (version 1.0.1). The number of days of 24HR needed was calculated for correlation coefficients of 0.7, 0.8, and 0.9. For most nutrients, S²(w) was greater than S²(b), resulting in RV>1, except for age-group analyses where children up to 5 years old showed VR<1. Two to three days of 24HR were estimated for most nutrients, considering a correlation coefficient of 0.8. Differences were observed according to sex and age group, with adolescents requiring more days of 24HR. These findings indicate the need to assess dietary variability among individuals with ASD according to the characteristics of this investigated population.

Lien vers le texte intégral (Open Access ou abonnement)

26. Thorpe D, McKinlay M, Richards J, Sang K, Stewart ME. The Lived Experience of Autistic Adults in Employment: A Systematic Search and Synthesis. Autism Adulthood. 2024; 6(4): 495-509.

BACKGROUND: Employment is a critical factor contributing to the well-being and quality of life of autistic people of working age. Historically, research has tended to focus on interventions and employment-related outcomes, typically generated without the input of autistic workers. Interventions often work to help the autistic worker fit into the working environment rather than it being adjusted for the autistic worker. However, a growing body of research reflects autistic workers’ experiences of employment with consideration given to how the workplace should change to reflect the differences of this historically marginalized group. METHODS: This study is a systematic analysis of existing research that focuses on and prioritizes autistic workers’ experiences of employment. Our analysis draws on the social relational model of disability (SRMD), an approach increasingly applied in contexts of autism and employment. We systematically searched five journal databases, resulting in 34 articles that reflect the lived experience of autistic people in employment. RESULTS: We identified four themes through narrative synthesis: Navigating Social Demands; the Disabling Nature of the Work Environment designed for neurotypical workers; Adapt to Me; and Understanding, Knowledge, and Acceptance. The results draw on the SRMD, revealing nuances to inclusionary and exclusionary employment for the autistic workforce. CONCLUSION: Our findings encourage the prioritization of the voice of autistic workers when designing working environments. They also function as a critique of the traditional approaches that placed employers, managers, and human resource professionals as the dominant agents of decision-making. In these traditional practices, the burden of making employment viable was on the worker, rather than the employer. The results of this study framed through the SRMD allowed for enhanced understanding of the barriers and new insights into how to improve the employment experience for autistic adults. Community brief Why is this an important issue? Autistic workers have some of the poorest outcomes of any part of the workforce with ∼78% unemployed. Even when in employment, autistic workers are often underemployed and have poor employment prospects. Employment can be part of a fulfilling life and has many associations with positive mental health and independence. Much of the existing research about the experiences of autistic people in work focuses on the voices of nonautistic people (e.g., family members and employers). In this study, we wanted to know more about autistic people’s experiences in work. We wanted to use this information to make recommendations to help autistic people’s work experiences better. What was the purpose of this study? This study brings together the research that has already been done about autistic people’s experiences of work. We wanted to look across the different studies to find important patterns. We also used a theoretical model called the Social Relational Model of Disability (SRMD) to explore these studies through a new perspective. Through the SRMD, disability is not caused by the condition itself. Disability instead is a product of environments and society that are constructed without consideration for the needs of those with that condition. The perspective of the SRMD would allow us to explore autism employment from a new perspective and find new insights. Our goal was to better understand autistic worker’s experiences and develop recommendations to improve work experiences. What did the researchers do? We searched systematically through academic databases for all the existing research about autism and employment that included the voices of autistic workers. The identified research articles were checked and then removed or accepted according to strict criteria until only a select few research articles remained. The criteria ensured that all 34 selected articles contained the first-hand experiences of autistic adults in employment. These articles were then to draw out the lived experiences of autistic people. Once these stages were complete the data were reinterpreted using knowledge from the literature and the SRMD to provide new understanding to the employment experience for autistic adults. What were the results of the study? We found four themes that describe autistic workers’ experiences: Navigating Social Demands; the Disabling Nature of the Work Environment designed for neurotypical workers; Adapt to Me; and Understanding, Knowledge, and Acceptance. These themes describe a wide range of experiences. Navigating Social Demands captures the experiences of communication and relationships in the workplace. The Disabling Nature of the Work Environment discusses the factors and experiences that make the neurotypical work environment disabling toward autistic individuals. Adapt to Me discusses how improvements can be made to the general experience of employment through adapting the workplace toward the needs of the individual. Finally, Understanding, Knowledge, and Acceptance provides insight into how the attitudes of others impact the individual’s experience of employment. What do these findings add to what was already known? This study builds on our understanding of autism employment. The disabling effects of the environment, social factors, and attitudes are highlighted in this research. Previous research has shown that communication conflicts can arise due to misunderstandings in the workplace. The current research builds on this and addresses how the autistic individual’s communication needs are not accommodated for in the workplace. These findings address new ways to understand the employment experience for the autistic individual. The value of autistic individual’s first-hand experiences is highlighted and the strength of the theoretical model to interpret these experiences is demonstrated. What are potential weaknesses in the study? Autistic workers have vastly different employment experiences. Not only is this through different careers and how those will lead to different experiences, but in addition, autistic individuals themselves experience the world through different perspectives. As such, our study cannot be used to understand every individual’s experience and many of the findings may be specific to individual’s experiences of employment. How will these findings help autistic adults now or in the future? These findings present useful insights into the autistic workers’ experiences that can be used by employers, managers, and human resource professionals. This will allow autistic perspectives to be incorporated in the design of adjustments and changes to the workplace. The value of taking on autistic individuals’ perspectives has been clearly demonstrated in this study. As such, this will help validate incorporating autistic individuals’ voices in both research and in the practice of designing and implementing adjustments in the workplace. eng.

Lien vers le texte intégral (Open Access ou abonnement)

27. Wright P, Moseley R, Tomasulo D, Srinivasan H, Wilson J, Woods S, Rashid T. Integrating Positive Psychology and Autism: A Roundtable. Autism Adulthood. 2024; 6(4): 389-400.

Lien vers le texte intégral (Open Access ou abonnement)

28. Xie QQ, Su Y. Online Processing of Grammatical Aspect in Subsamples of Preschool Mandarin-acquiring Autistic Children. J Autism Dev Disord. 2025.

Grammatical comprehension remains a strength in English-acquiring autistic preschoolers, yet limited studies have examined how autistic children process grammatical constructions in real time, in any language. This study sought to characterize the online processing of grammatical aspect in a diverse sample of Mandarin-acquiring autistic children. Forty-six 3-6-year-old autistic children, further divided into high (N = 23) and low verbal subgroups (N = 23) based on their expressive vocabulary levels, were assessed via Intermodal Preferential Looking (IPL). Children viewed side-by-side renditions of the same event, one of which was ongoing, while the other was completed, paired with familiar verbs with the perfective aspect le or the durative aspect zhe. Both high and low verbal autistic groups demonstrated robust comprehension of le and zhe. Similar to TD children, autistic children in each group showed processing facilities upon the initial presentation of the zhe test audio, but they may be less efficient at le processing. Moreover, the comprehension degree of grammatical aspect correlated negatively with their autism severity scores for the total autistic group; the processing efficiency correlated positively with the production of grammatical aspect for the total and low verbal autistic groups. The findings confirm the strength of processing grammatical aspect in subsamples of preschoolers with autism spanning a wide range of language functioning, suggesting that young autistic group across languages could surmount at least some challenges of aspect acquisition, such as delayed expressive language skills and pragmatic deficits. Additionally, the influencing factors provided insight into the informing intervention strategies that are optimally, developmentally timed.

Lien vers le texte intégral (Open Access ou abonnement)

29. Yin S, Sun S, Li J, Feng Y, Zheng L, Chen K, Ma J, Xu F, Yao D, Xu P, Liang XS, Zhang T. Temporal and spatial variability of large-scale dynamic brain networks in ASD. Eur Child Adolesc Psychiatry. 2025.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by significant impairments in social-cognitive functioning. Prior studies have identified abnormal brain functional connectivity (FC) patterns in individuals with ASD, which are associated with core symptoms and serve as potential biomarkers for diagnosis. However, the patterns of temporal and spatial variability in dynamic functional connectivity networks (dFCNs) in ASD and their relationship with ASD behaviors remain underexplored. This study uses fuzzy entropy to analyze the temporal variability and spatial variability of dFCNs, aiming to reveal distinctive FC patterns in ASD and identify new biomarkers. We conducted a comparative analysis between ASD and healthy controls (HCs), examining the association with clinical symptoms. Our findings indicate increased FC temporal variability in sensorimotor, subcortical, and cerebellar networks in ASD compared to HCs. Additionally, increased spatial variability was observed primarily in visual, limbic, subcortical, and cerebellar networks. Notably, these variability patterns correlated with symptom severity in ASD. Utilizing these spatiotemporal variability features, we developed multi-site classification models that achieved high accuracy (81.25%) in identifying ASD. These results provide novel insights into the neural mechanisms and clinical characteristics of ASD, suggesting that integrated spatiotemporal dFCN features may enhance diagnostic accuracy.

Lien vers le texte intégral (Open Access ou abonnement)

30. Yon-Hernández JA, Iosif AM, Srivastav A, Solomon M. Adaptive Functioning Across Contexts: A Comparison of Parent and Self-Reported Ratings in Autistic and Non-Autistic Youth. J Autism Dev Disord. 2025.

Multi-informants are essential for capturing the full range of adaptive functioning abilities necessary for daily living and independence. However, discrepancies within parent-child dyads, specifically comparing parent-reports to child self-reports, can cloud interpretation from assessments and hinder support planning. This study examines discrepancies in parent-youth perceptions of adaptive functioning, focusing on the social domain, and investigates associations among parents, youth, and independent ratings, considering factors like IQ, autism severity, and parental education. The study included 132 individuals (66 autistic, 66 non-autistic) aged 16-24 years. Adaptive functioning was measured using the Adaptive Behavior Assessment System-3 across the conceptual, practical, and social domains. Agreement between reporters was assessed using paired-sample t-tests, intraclass-correlations, and Bland-Altman plots. Spearman’s correlations examined associations between raters, while the effects of IQ, autism severity, and parental education on discrepancies were analyzed using linear regression. Autistic self- and parent-reports showed lower adaptive functioning than non-autistic dyads. Autistic youth reported higher social and less practical adaptive skills compared to parents. Autistic self-reports in the social domain correlated significantly with independent assessment. Increased autistic symptoms were associated with greater parent-child discrepancies. This study underscores the importance of multi-informant assessments to understand the full range of adaptive functioning in autistic individuals. Discrepancies in social and practical domains highlight the need for both perspectives, because parents may not observe all behaviors and may overlook autistic individuals’ perception of support needs in the practical domain. Understanding these differences is crucial for improving supports planning and enhancing quality of life for autistic individuals.

Lien vers le texte intégral (Open Access ou abonnement)

31. Zhang Y, Li H, Li B, Li Y, Chai X, Li S, Xue X, Li H, Zhao Y, Tang Y, Yin B, Zhao P, Li E, Feng P. Dachaihu decoction ameliorates abnormal behavior by regulating gut microbiota in rats with propionic acid-induced autism. Front Microbiol. 2025; 16: 1535451.

BACKGROUND: Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder, usually accompanied by gut microbiota dysregulation. Gut microbiota homeostasis is considered effective for ASD. Reportedly, Dachaihu decoction (DCHD) can efficiently regulate gut microbiota and inflammation. However, the mechanisms underlying the effects of DCHD in the treatment of ASD remain unclear. OBJECTIVE: This study investigated the potential effects and mechanisms of DCHD in treating ASD. METHODS: In the animal experiment, propionic acid was administered to construct an ASD rat model. The ASD rats were treated with DCHD, and the efficacy was assessed using the behavioral detections, such as open field test, elevated plus maze test, novel object recognition test. Additionally, the levels of IL-6, TNF-α, IL-10, T-SOD, MDA, GSH and CAT were determined using kits, and histological staining was used to evaluate brain morphology. Moreover, tight junction proteins (ZO-1 and occludin) expression levels were evaluated using RT-qPCR, whereas Iba1 expression level was assessed by immunofluorescence staining. The 16S rRNA sequencing and metabolomic analysis of feces revealed the potential targets of DCHD against ASD. In a small human trail, the clinical scales ADOS-2 and Autism Behavior Checklist (ABC) assessed autism severity. Gastrointestinal problems and brain function were evaluated based on food intolerance and event-related potential, respectively. RESULTS: DCHD significantly improved autism-like behaviors and increased antioxidant enzyme activity, decreased inflammation and enhanced the intestinal barrier by the animal experiment. Furthermore, the DCHD treatment altered the gut microbiota profile, with increased probiotics Adlercreutzia, Parvibacter, Turicibacter, and Christensenellaceae. Further, DCHD increased the beneficial metabolite indole-3-acetate and decreased the cognitive impairment-related metabolites asymmetric dimethylarginine and homogentisic acid. Meanwhile, the small clinical trial revealed that DCHD significantly alleviated the core symptoms of ASD, with decreased ADOS-2 and ABC scale scores. DCHD also decreased the levels of specific egg white/yolk and milk IgG antibodies and shortened the MMN and P3b latencies. CONCLUSION: This study demonstrated that DCHD may alleviate ASD via inhibiting oxidative stress, reducing inflammation, and modulating the gut microbiota in rats. Combined with human trial, DCHD may be a promising drug for treating ASD. This study provides a scientific rationale for treating mental disorders related to gut microbiota dysbiosis.

Lien vers le texte intégral (Open Access ou abonnement)