1. Bailey L, Tse JD, Chandra A, Sudat S, Hansra R. Agitation in Nonverbal Patients With Autism: The Role of Sensory Evaluation in Diagnosis and Management. Clin Case Rep;2026 (May);14:e71939.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition often associated with communication barriers, sensory sensitivities, and behavioral challenges, including agitation. Identifying the underlying causes of acute agitation in nonverbal individuals with ASD can be difficult, leading to diagnostic delays and unnecessary medical interventions. We present a case of a 36-year-old nonverbal male with ASD who was admitted for severe agitation, self-injurious behaviors, and increased aggression towards family members. His medical history included epilepsy, hypertension, and prior otitis media with tympanostomy tubes. Initial evaluations, including CT imaging and laboratory tests, were unremarkable. Despite escalation of psychiatric medications, including haloperidol and ziprasidone, along with dexmedetomidine infusion and physical restraints, his agitation persisted. Given his history of ear infections, further examination revealed cerumen impaction in his right ear. Following ear lavage, the patient’s behavior significantly improved, agitation resolved, and he was safely discharged home. This case underscores the importance of a thorough diagnostic approach when evaluating agitation in individuals with ASD, particularly those with communication limitations. Sensory disturbances, such as cerumen impaction, may be overlooked contributors to distress. Additionally, maintaining a familiar environment and involving caregivers played a crucial role in the patient’s stabilization. While pharmacologic and physical interventions were initially necessary for patient and provider safety, restraints may have exacerbated distress. This highlights the need for alternative strategies, including early sensory evaluations, behavioral interventions, and specialized ASD-friendly healthcare protocols. Agitation in ASD patients requires a multidisciplinary approach that considers sensory, medical, and environmental factors. Healthcare providers should remain vigilant for treatable conditions like cerumen impaction and prioritize nonpharmacologic interventions to minimize distress and improve patient outcomes. Incorporating a sensory-first bedside check, including an ear exam, can prevent unnecessary escalation and reduce restraint exposure.

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2. Erickson SR, Jean J, Marshall VD. Emergency Department Visits for Adverse Medication Events for Adults With Intellectual or Developmental Disabilities. Ann Pharmacother;2026 (Apr 23):10600280261439952.

BACKGROUND: Persons with intellectual or developmental disabilities (IDD) are at risk of adverse medication events (AMEs). Polypharmacy, complex medication regimens, and reliance on others to manage medications are a few risk factors that are more common in this group of patients than in the general population. OBJECTIVE: To determine the likelihood that an emergency department (ED) visit for an AME is greater for adults with IDD than for the general adult population. METHODS: This exploratory study used the 2018 National (Nationwide) Emergency Department Sample (NEDS) of the Healthcare Cost and Utilization Project (HCUP) databases and applied a multivariable logistic regression analysis for complex surveys to determine the likelihood that an ED visit was for an AME and was different for adults with IDD compared to those without IDD, controlling for patient characteristics. RESULTS: A greater proportion of ED visits for adult patients with IDD were for AMEs (4.4%) compared to patients without IDD (2.6%). The unadjusted odds ratio for IDD when compared with non-IDD was 1.695, with a 95% confidence interval of 1.649 to 1.743. In the multivariable logistic regression model, the odds ratio associated with a patient with IDD was 1.795 (95% confidence interval 1.75, 1.84), indicating that the ED admission was significantly more likely to be due to an AME for patients with IDD compared to patients without IDD. CONCLUSION AND RELEVANCE: Adults with IDD have a higher likelihood that an ED visit is due to an AME compared with the general population. Knowing this, clinicians and researchers can begin to investigate the reasons for this disparity, in an effort to ensure the safe and effective use of medications by persons with IDD.

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3. Govek EE, Hull C, Hatten ME. ASTN2 in ASD and neurodevelopmental disorders. Curr Top Dev Biol;2026;167:429-448.

This chapter reviews the role of Astrotactin 2 (ASTN2) in cerebellar development and its implications for neurodevelopmental disorders, particularly autism spectrum disorder (ASD). ASTN2 is identified as a critical gene influencing the function of the cerebellum, a brain region traditionally associated with motor control but now recognized for its roles in social cognition and emotional processing. ASTN2 mutations, including deletions and copy number variations, have been linked to increased risks of ASD and other psychiatric conditions. Studies highlight ASTN2’s involvement in neuronal migration, synaptic modulation, protein trafficking, and behavior, as evidenced by mouse models displaying ASD-like behaviors when ASTN2 expression is perturbed. Additionally, ASTN2 affects the structure and function of the sole output neuron of the cerebellum, the Purkinje cell, including changes in spine density and synaptic transmission. To bridge the knowledge gap regarding the role of ASTN2 in human neurodevelopmental disorders, human induced pluripotent stem cells are being employed to further investigate ASTN2’s function in human neuronal development and physiology. These studies position ASTN2 as a potential target for future therapeutic interventions in ASD and other neurodevelopmental disorders.

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4. Grant L, Singh L, Mandava A. Social Media Use and Technology Use in Patients with Intellectual and Developmental Disabilities. Innov Clin Neurosci;2026 (Jan-Mar);23(1-3):10-16.

As internet and social media use become increasingly central to youth development, it is critical to address the unique opportunities and challenges these technologies pose for individuals with intellectual and developmental disabilities (IDD). This column explores how digital tools can enhance social connection, identity formation, adaptive skill-building, and access to therapeutic resources in youth with IDD, while also acknowledging the heightened risks of cyberbullying, overstimulation, exploitation, and digital exclusion. Through a review of current literature, clinical vignettes, and practical guidance, we offer a nuanced framework for clinicians to promote safe, inclusive, and developmentally appropriate internet use. We highlight the importance of caregiver support, tailored digital tools, and mental health-informed approaches to digital literacy. Clinicians are encouraged to integrate technology discussions into care planning, advocate for accessible digital environments, and empower youth with IDD to participate meaningfully in the digital world.

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5. Greig L, Coundouris SP, Henry JD. Autistic Traits and Camouflaging: A Meta-Analysis. Autism;2026 (Apr 24):13623613261437500.

Autistic people sometimes camouflage their behaviour to appear non-autistic. This meta-analysis rigorously tests the relationship between autistic traits and camouflaging, examining contributing person- and study-level variables. Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we searched PubMED, PsycINFO, Web of Science, and ProQuest Dissertations in April 2025. All quantitative designs examining autistic traits and camouflaging on a continuum were included. Fifty papers (N = 16,895; ages 10-90) contributed to a three-level meta-analysis (accounting for dependent effect sizes). Study quality was medium to high with no evidence of publication bias. Results revealed a moderate association between autistic traits and camouflaging (r = 0.34, 95% CI: 0.30-0.39), comparable across sexes. Depression, but not anxiety or social anxiety, moderated the relationship. Age was not a moderator, but the association was stronger in general population samples (vs diagnosed), with self-reported autism measures (vs observational), and when using the discrepancy method for camouflaging (vs self-report). Among camouflaging subdomains, assimilation showed the strongest effect, followed by compensation and masking. Limited sample diversity constrains inferences across the full spectrum. This meta-analysis provides a clearer understanding of when, why, and how autistic traits are related to camouflaging, with important research and clinical implications. No funding was obtained for this study. Registration: https://osf.io/uswtr/?view_only=277aec07cdfc402dae75f4900f291253Lay AbstractUnderstanding the autistic trait and camouflaging relationship is critical to identify who is most vulnerable to camouflaging and the way in which autism and camouflaging measurement may influence our understanding of this phenomenon. This directly impacts clinical diagnosis and support, as camouflaging contributes to diagnostic delay and poorer mental health outcomes, creating a cycle of continued camouflaging. Our findings may help to establish the foundation needed to develop targeted interventions.We completed a systematic search to identify all studies that assessed the relationship between autistic traits and camouflaging. In total, 50 studies met all inclusion criteria. The first author extracted data related to participant characteristics (age, gender, diagnostic status, mental health), autistic trait characteristics, and the camouflaging measurement characteristics.The 50 contributing studies included a total of 16,895 participants (61% female). These data show that the more autistic traits a person has, the more camouflaging they engage in; this relationship is evident for both males and females, and the strength of this relationship does not vary across the adult lifespan. People from the general population show an increase in the strength of this relationship, compared to those diagnosed, and the relationship changes based on how autistic traits and camouflaging are measured and conceptualised. Mental health did not have a clear impact on the overall relationship.There is a nuanced relationship between autistic traits and camouflaging, the strength of which is dependent on specific person-related (diagnostic status and depression) and study-related factors (autistic trait measurement type, camouflaging measurement type, and camouflaging subdomain). Autistic traits are most strongly linked to behaviours that help people to assimilate (try to fit in and appear ‘normal’), followed by strategies to compensate for social differences. The act of hiding autistic traits was the least related. Because the relationship between autistic traits and camouflaging was weaker for diagnosed autistic people, further work is needed to test why this occurs. In addition, clinicians must be aware of the potential for camouflaging to disrupt the diagnostic process, and campaigns that aim to reduce stereotypes of autism and promote acceptance of neurodiversity may help to reduce the stigma that drives camouflaging.

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6. Hart LC, Sirrianni J, Rust S, Hanks C. Testing for Lipid Levels and Diabetes among Autistic Youth who are and are not Prescribed Anti-Psychotics: A Cohort Study. Am J Prev Med;2026 (Apr 21):108389.

INTRODUCTION: Autistic youth have higher rates of hyperlipidemia and diabetes than non-autistic youth and thus need age-appropriate monitoring for hyperlipidemia and diabetes. Little is known about how frequently autistic youth are monitored for these conditions. METHODS: This analysis assessed monitoring for hyperlipidemia and diabetes among 230 autistic youth ages 16 to 30 years (113 were prescribed anti-psychotics, 117 were not) between January 2011 and May 2020. Outcomes assessed included the proportion of patients who had ANY testing for hyperlipidemia and diabetes in both groups, proportion of prescriptions monitored for hyperlipidemia and diabetes in the last year, and identification of patient factors associated with monitoring. RESULTS: A significantly higher proportion of autistic youth prescribed anti-psychotics had testing for both hyperlipidemia and diabetes during the study period than autistic youth who were not (73% vs. 49%, p< 0.001). While most autistic youth who were prescribed anti-psychotics had some monitoring done, of the 1538 prescriptions for anti-psychotics (new and renewal) identified, 847 (55%) were considered unmonitored. Having other bloodwork done was significantly associated with higher odds of testing for hyperlipidemia or diabetes (OR 1.45, 95% CI [1.37, 1.56]), but not other factors assessed. CONCLUSIONS: Most autistic youth prescribed anti-psychotics in this cohort underwent some monitoring for hyperlipidemia and diabetes, but not at a level consistent with guidelines. Many autistic youth not prescribed anti-psychotics are not getting testing for hyperlipidemia or diabetes. Providers should consider adding lipid and diabetes testing to other bloodwork, as this was positively associated with monitoring in this analysis.

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7. Kasahara S, Aono S, Takatsuki K, Niwa SI, Yabuki S. Attention-deficit/hyperactivity disorder and autism spectrum disorder in chronic pain: a study in Japanese pain centers. Sci Rep;2026 (Apr 23);16(1)

Chronic pain is influenced by physical and psychosocial factors and associated with symptoms of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD); however, the specific symptom dimension related to pain severity and the underlying psychosocial pathways remain unclear. This cross-sectional screening study included 958 adult patients with persistent chronic pain despite standard care at their initial visit to multidisciplinary pain centers (Japan). Screening positivity rates were 17.1% for ADHD and 4.4% for ASD. ADHD symptoms, but not ASD symptoms, were considerably associated with higher pain intensity and extremely severe pain [average numerical rating scale score: 9-10]. Among patients with extremely severe pain, 27.4% were screened positive for ADHD. Hierarchical logistic regression analyses revealed that the association between ADHD symptoms and extremely severe pain was attenuated after adjustment for anxiety/depression and pain catastrophizing. Path analyses further indicated that ADHD symptoms were indirectly associated with severe chronic pain through anxiety/depression alone or through anxiety/depression combined with pain catastrophizing. Thus, ADHD symptoms are more strongly associated with pain severity than ASD symptoms in patients with persistent chronic pain, and emotional and cognitive factors may play a key mediating role. Screening for ADHD symptoms is crucial for comprehensive management of severe chronic pain.

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8. Kenny N, Doyle A, O’Neill C, Doyle JK, O’Kelly J, Earley F, Neilson S. « Tell Me What My Job Is »: A Qualitative Exploration of the Experiences of Autistic Academic Staff Working in Higher Education in Ireland. Autism;2026 (Apr 24):13623613261440799.

This co-produced study explores the experiences of autistic staff working in higher education in Ireland, a group largely overlooked in existing research. While much attention has been given to autistic students, little research has explored how autistic academics navigate their professional roles. This study investigates the challenges and strengths autistic staff encounter within academic environments. Eleven autistic participants took part in semi-structured interviews, conducted flexibly to respect individual preferences and communication needs. Data were analysed using the Reflexive Thematic Analysis. Four key themes emerged: (1) Discovering being autistic, (2) Role ambiguity and institutional invisibility, (3) Stress, burnout, and workplace unpredictability, and (4) Autistic strengths. Participants described strengths such as hyper-focus, problem-solving, and deep commitment to teaching while also highlighting barriers such as unclear expectations, a lack of visibility, and high emotional labour. The findings underscore the need for more inclusive institutional practices that reduce the pressure to mask and protect against burnout. Supporting autistic staff through affirming environments not only enables individuals to thrive but also enriches the wider educational community by fostering diverse approaches to teaching, learning, and communication.Lay AbstractThis study explores the experiences of autistic people who work as academic staff in universities. Autistic staff often face challenges such as unclear job expectations, misunderstandings from colleagues, and barriers to being open about their identity. Through interviews, we learned that many autistic academics care deeply about their work but feel unsupported in environments that reward constant social interaction, speed, and competition. Despite this, participants found creative ways to make space for themselves and others. This research helps us understand what autistic staff need to thrive in universities and shows why workplaces should value different ways of thinking, working, and communicating. Making these changes could benefit not only autistic staff but the wider academic community as well.

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9. Kobayashi M, Kobayashi T, Obara T, Narita A, Miyake A, Suzuki T, Ishikuro M, Orui M, Kodama EN, Shimizu R, Hamanaka Y, Izumi Y, Hozawa A, Fuse N, Kikuchi A, Tamiya G, Kure S, Kuriyama S, Yamamoto M. Gaze Patterns of Children with Communication Difficulties Associated with Core Symptoms of Autism Spectrum Disorder. Tohoku J Exp Med;2026 (Apr 24);268(4):455-468.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions. There is an urgent need to establish objective, simple, and accurate screening and diagnostic methods for ASD in childhood. Recently, the ability to visualize and quantify eye movements has emerged, suggesting that ASD may exhibit characteristic gaze patterns. To examine the potential of gaze patterns as an early marker of ASD, we analyzed the relationship between gaze patterns at ages 4-6 and individual ASD characteristics, as determined by the Autism Spectrum Quotient Japanese version for children (AQ-J-child) at age 6, using data from 4- to 6-year-old children recruited into the BirThree Cohort Study of the Tohoku Medical Megabank Project. The median gaze rate, which represents the percentage of time the subjects spent looking at the screen during the test, was 92%, reflecting the highly versatile nature and proper execution of this test in our study. We found that children with social impairment tend to prefer looking at geometric patterns. In addition, children with communication difficulties tend to spend less time looking at the eyes in still images of human faces. Our analyses of the relationships between various gaze results and ASD characteristics defined by AQ-J-child revealed that specific gaze preferences are significantly associated with communication difficulties, social impairment, and impaired imagination. These findings indicate that the gaze measurement results show strong correlations with specific aspects of ASD. Therefore, gaze patterns demonstrate the potential to reflect one aspect of ASD.

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10. Luoni M, Kubacki M, Giannelli SG, Morosi F, Di Berardino C, Iannielli A, Sessa A, Colasante G, Di Patrizio Soldateschi E, Lanzuolo C, Broccoli V. MeCP2 gene dosage-dependent neurodevelopmentally restricted defects arise by aberrant activation of cell fate-determining bivalent genes. Nat Commun;2026 (Apr 23);17(1)

The overexpression of MECP2 leads to severe neurological deficits in MECP2 duplication syndrome, and its dosage is considered a risk factor in gene therapy for Rett syndrome. However, in MECP2 duplication syndrome patients, MECP2 dysregulation arises at the embryonic stage while in Rett syndrome gene therapy, MECP2 is delivered into the mature brain. Here, we show that MeCP2 overexpression induces transcriptional alterations in neural progenitor cells, but has minimal effects in neurons in both mouse and human contexts. Consequently, MeCP2 overexpression in neural progenitor cells, but not mature neurons, leads to functional changes. Mechanistically, we observe that both endogenous and overexpressed Mecp2 bind to the same CpG island repertoire. In neurons, where endogenous Mecp2 is highly expressed, ectopic protein expression leads to reduced CpG island binding and accelerated protein degradation. In contrast, in neural progenitor cells, lower endogenous Mecp2 levels facilitate stronger deposition of the ectopic protein onto CpG islands, driving the transcriptional activation of many developmental bivalent genes. We show that this activation is mediated by the interaction with the SWI/SNF chromatin remodeling complex. Our findings establish that increased gene dosage-dependent effects are highly influenced by cell type, levels of proteins and their mechanisms of action.

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11. Matheny-Rabun C, Holloway L, Corning K, Louie R, Lu P, Smol T, Boussion S, Woods E, Johnson D, Williams C, Steet R, Friez M, Arno G, Stevenson R, Flanagan-Steet H. Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism. NPJ Genom Med;2026 (Apr 24)

X-linked intellectual disability (XLID) comprises a group of heterogeneous disorders associated with impaired cognitive function and developmental delays. It has been estimated that 10% of the genes on the X-chromosome are associated with at least one form of intellectual disability. To date, genetic variants in 172 genes have been associated with XLID. Clinically, these disorders are highly variable, with some exhibiting multi-system involvement and others limited only to intellectual impairment. Here we describe a new XLID condition caused by defects in RPS4X, which encodes a component of the small (40S) subunit of the ribosome. Genetic testing of two male siblings with dysmorphic facial features, microcephaly, global developmental delay, and autism revealed a maternally inherited missense variant in RPS4X. Studies in patient fibroblasts and zebrafish indicate this RPS4X variant is pathogenic, with functional findings consistent with the clinical presentation. Four additional individuals with intellectual disability were identified through the GeneMatcher and the 100,000 Genomes project that also bear RPS4X variants. Together, these data support RPS4X as a new XLID-associated gene, expanding the involvement of ribosomal components in genetic disease.

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12. Murdoch S, Donaghy B, Grant A, Sheen K, Moore DJ. Exploring Autistic People’s Experiences of and Attitudes Towards Cervical Screening: A Mixed-Methods Study. Autism;2026 (Apr 24):13623613261439937.

Cervical screening can be lifesaving, yet attendance rates are lower than recommended within the general population and even lower within the autistic population. There is currently no published research systematically exploring autistic people’s cervical screening experiences. This research aimed to explore the experience of cervical (« smear ») screening for autistic people in the United Kingdom. Autistic people (N = 97) completed an online mixed-methods questionnaire about their cervical screening experiences. Questions considered experiences of pain, sensory and communication issues, knowledge of cervical cancer, attitudes towards screening, and experience of sexual assault. Findings suggest that an autistic person’s intention to attend their screening is important to understand their actual attendance at the screening. Quantitatively, pain, sensory and communication issues, or knowledge of cervical cancer were not associated with screening attendance. However, qualitatively, they were. Two themes emerged: « Communication disconnect across the care journey » and » Echoes of the past: the lasting impact of previous care encounters » were discussed as barriers to screening engagement. This research highlights the need to improve healthcare communication and other accessibility needs for autistic people when attending cervical screening and for further development of appropriate measurement tools. More research is needed to further inform methods of improving cervical screening services for autistic people.Lay AbstractCervical screening (« smear tests ») can prevent the development of cervical cancer by spotting the signs early. These screening tests can be lifesaving. A large number of the general population do not attend their cervical screening test when invited, and this is even higher for autistic people. One problem is that there is no research to understand why autistic people might not attend their smear tests. We asked autistic people in the United Kingdom to complete a questionnaire online to see who has attended their smear test when invited and looked at different things that might be important in this decision. Pain, sensory issues, and knowledge of cervical cancer did not seem to be important in explaining who did and did not attend a screening appointment. Communication (before, during, and after the screening tests) and previous negative experiences of healthcare (both in general and previous cervical screening tests) were important. This research further highlights the need for more training for healthcare providers in communication for diverse communities and communication needs. More research is also needed to better understand autistic people’s cervical screening and wider healthcare experiences.

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13. O’Connell E, McCormack S, O’Leary C, Lynam K, Marques Reis I, Mahony A. Prevalence of Autism and Intellectual Disability Among Inpatients in Paediatric Hospitals. Ir Med J;2026 (Apr 24);119(4):70.

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14. Orell G, Barazanji N, Fernell E, Gillberg C, Lindberg G, Walter S. Traits of autism and attention-deficit/hyperactivity disorder in irritable bowel syndrome with pronounced symptoms. Scand J Gastroenterol;2026 (Apr 23):1-11.

OBJECTIVES: Gastrointestinal symptoms are common in children with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). However, little is known about the relationship between gastrointestinal symptoms with ASD and/or ADHD in adults. Emerging evidence has revealed potential connections between Irritable Bowel Syndrome (IBS) and ASD. Notably, shared genetic architecture has been identified between IBS and ASD. This cross-sectional study aimed at assessing the prevalence of ASD and/or ADHD traits in IBS patients and whether these traits impacted the clinical presentation. MATERIALS AND METHODS: Adult patients with moderate-severe IBS (N = 150) were offered screening questionnaires for ASD and ADHD. The patients also completed questionnaires for symptom severity and underwent a rectal balloon barostat examination. Participants screening positive for ASD and/or ADHD were compared to participants screening negative for both conditions. RESULTS: Screening questionnaires were obtained from 110 patients (86 women). In total, 34/110 participants screened positive for ASD and 45/110 for ADHD, and 26 among those screened positive for both conditions. IBS symptom severity was higher in the group screening positive for ADHD, and somatic symptom burden was higher in both positive screening groups. Barostat thresholds for maximum tolerable pressure were lower in the group screening positive for ASD, and anxiety scores were higher in the group screening positive for ADHD. CONCLUSIONS: We found that positive screening for ASD and ADHD were both highly prevalent in a cohort of patients with moderate-severe IBS. The patients who screened positive for ASD and/or ADHD presented significant clinical differences compared to those who did not.

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15. Pascoe MI, Vincent J, Lai MC, Desarkar P, Vitopoulos N, Lunsky Y, MacKinnon KR, Lam JSH. The Intersection of Autism and Gender Diversity in the Canadian Clinical Context: Characterizing a Sample of Adults Referred to Canada’s Largest Publicly Funded Adult Gender-Care Service: Intersection de l’autisme et de la diversité des identités de genre dans le contexte clinique canadien : Caractérisation d’un échantillon d’adultes orientés vers le plus grand service de soins en matière d’identité de genre destinés aux adultes financé par le secteur public au Canada. Can J Psychiatry;2026 (Apr 24):7067437261442432.

BackgroundResearch indicates a significant overlap between transgender and gender-diverse (TGD) and autistic identities. This intersectional population has higher risks of mental health challenges and worse mental health outcomes than individuals with just one of the two identities. Limited research focuses on adults at this intersection and their care access needs. To better characterize this population in the Canadian context, this study examines the population referred to Canada’s largest publicly funded adult gender-related care clinic and compares demographic and diagnostic characteristics between those with and without a pre-existing autism diagnosis.MethodsThe data come from the medical records of 1,843 adults referred to the Gender Identity Clinic (GIC) at the Centre for Addiction and Mental Health in Toronto, Canada, between January 2020 and March 2025. The prevalence of autism diagnosis prior to entering the clinic was calculated. Average age, sex-assigned-at-birth composition, prevalence of gender dysphoria diagnoses and of additional mental health and neurodevelopmental diagnoses were compared between autistic and non-autistic groups. Changes across time in the number of autistic individuals referred to the GIC were analyzed.ResultsApproximately 6.3% of adults referred to GIC had a diagnosis of autism. The autistic and non-autistic groups had no difference in average age. The groups had no differences in sex-assigned-at-birth distribution. Autistic adults had greater rates of gender dysphoria. Autistic adults had higher rates of each category of mental health and neurodevelopmental diagnoses examined.ConclusionsThis study is a first step in developing a holistic understanding of the experiences of autistic TGD adults seeking clinical gender-related care in the Canadian context, providing a starting point to addressing needs and barriers to care for this population, as well as insight into the substantial mental health challenges experienced by this population. Characterizing the population of autistic adults visiting a large gender-care service in CanadaPlain Language SummaryMany transgender and gender-diverse (TGD) individuals are autistic. They are more likely to have mental health problems but have a harder time getting mental health care. We wanted to know how common it was for the people coming to get gender care services at a large gender related clinic to have an autism diagnosis, and how those with an autism diagnosis were the same or different than other people at the clinic. We collected data from the medical records of 1,843 adults who had been referred to the Gender Identity Clinic at a large hospital in Toronto, Canada between January 2020 and March 2025. We examined the number of adults in the population who had a recorded diagnosis of autism at the point of intake, and compared the autistic and non-autistic groups in terms of: average age, sex-assigned-at-birth makeup, the rates of participants with a diagnosis of gender dysphoria, and other mental health or neurodevelopmental diagnoses. We also looked at the rates of adults with an autism diagnosis accessing care at the clinic across time. The researchers found that about 6.3% of the sample had a diagnosis of autism upon referral to the clinic. The autistic and non-autistic groups had no differences in average age. The sex-assigned-at-birth makeup of the two groups was equal. The autistic group was more likely to have higher rates of gender dysphoria and of mental health diagnoses than the non-autistic group. This study highlights the mental health difficulties experienced by this population, urging researchers, clinicians, families, and self-advocates to work toward removing the barriers experienced by this population in accessing care. eng

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16. Stoccoro A, Serpe C, Parmeggiani A, Catania VD, Lima M, Ghezzo A, Panisi C, Angotti M, Pranzetti B, Abruzzo PM, Zucchini C, Migliore L, Marini M, Coppedè F. Mitochondrial D-Loop Region Methylation Is Not Altered in Children with Autism Spectrum Disorder. Epigenomes;2026 (Apr 4);10(2)

Background/Objectives: Although the etiopathogenesis of autism spectrum disorder (ASD) remains incompletely elucidated, current evidence supports a multifactorial model involving genetic and environmental factors that interact to induce a heterogeneous range of symptoms. In recent years, epigenetic mechanisms, particularly DNA methylation, have been recognized as key contributors to ASD pathophysiology. Alterations in mitochondrial DNA (mtDNA) methylation are also emerging as relevant contributors in several human conditions. The mitochondrial D-loop, a non-coding control region essential for mtDNA replication and transcription, is considered a hotspot for epigenetic regulation and its methylation levels have been found altered in various diseases, such as cancer, metabolic disorders, and neurological illness. However, to date, no studies have investigated mtDNA methylation changes in ASD. Methods: We analyzed the average methylation levels of a fragment containing ten CpG sites within the D-loop region and the mtDNA copy number in peripheral blood samples from 49 children with ASD and 50 neurotypically developing (NT) controls using Methylation-Sensitive High-Resolution Melting and quantitative PCR. Results: No significant differences in D-loop methylation levels were observed between ASD and NT children. Similarly, the mtDNA copy number did not differ between the two groups. No significant correlations were found between D-loop methylation or mtDNA copy number and either ASD severity or age. Conclusions: This is the first study investigating mtDNA methylation in ASD. Our results indicate that methylation of the D-loop region and the mtDNA copy number are not altered in ASD children. Further studies including larger cohorts and extended mtDNA regions are warranted to confirm and expand these findings.

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17. Sušienková P, Szabó J, Filo J, Borbélyová V, Ostatníková D, Celec P, Renczés E. Neonatal testosterone exposure modulates exploration and object avoidance without exacerbating autism-like behavior in Shank3b-deficient mice. Horm Behav;2026 (Apr 24);181:105935.

A rapid increase in autism spectrum disorder (ASD) prevalence, high heritability, and higher incidence in boys suggest a role of gene-environment interactions, likely involving sex hormones in its etiology. Prenatal exposure to high testosterone concentration has been linked to risk of ASD, however, experimental proof in genetically predisposed animals is lacking. Since neonatal development in mice mirrors late prenatal neurodevelopment in humans, we investigated the effects of neonatal testosterone administration on the behavior of female and male Shank3b((-/-)) mice. On postnatal day 1, neonate Shank3b((-/-)) and wild-type pups of both sexes received a single dose of testosterone (1 mg) or vehicle subcutaneously. Behavioral phenotyping of mice was conducted in adolescence and adulthood. ASD-like behavior was unaffected by the combination of neonatal exposure to testosterone, male sex, and Shank3b deficiency in both adolescence and adulthood. In adolescence, testosterone-treated mice showed 32% higher object-avoidance behavior in comparison to control mice. Shank3b((-/-)) mice spent threefold longer time self-grooming, buried half as many marbles, and vertically explored 23% less than wild-type mice. In adulthood, neonatal exposure to testosterone reduced vertical exploration by 34% and locomotor activity by 15%. Shank3b((-/-)) mice self-groomed threefold longer, buried 31% fewer marbles, and spent 37% less time by vertical exploration than wild-type mice. Neonatal exposure to testosterone seems to affect object avoidance and exploration, rather than ASD-like behavior. Early testosterone exposure or its synergistic effects with sex and genetic predisposition on the ASD-like phenotype later in life seem to be limited.

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18. Tan RR, Nevill R, Intagliata V, Higgins A, White E, Burns A, Herrera J, Davis BE. Predictors of Autism Spectrum Disorder Among Children With Diagnostic Uncertainty After Initial Developmental-Behavioral Pediatric Evaluation. J Dev Behav Pediatr;2026 (Apr 23)

OBJECTIVE: To examine demographic and child/family factors predictive of autism spectrum disorder (ASD) in children with diagnostic uncertainty after initial assessment by experienced Developmental Behavioral Pediatric (DBP) clinicians. METHODS: A retrospective cohort of 87 consecutive children was seen for Interdisciplinary Autism Diagnostic Team (IADT) assessment between January 2022 and March 2023 because of initial DBP clinician diagnostic uncertainty. Sociodemographic and child/family characteristics including IADT results were analyzed using Mann-Whitney U tests, χ2 tests, and logistic regression to determine predictors of ASD diagnosis. RESULTS: Mean age of referred children was 6.9 (SD 3.02) years, 74% were male, and 78% did not exhibit cognitive delays. Demographic factors did not significantly differ between ASD and non-ASD diagnostic groups. The ASD group had lower rates of prenatal substance exposure (p < 0.001), physical aggression (p = 0.033), family history of non-ASD mental health conditions (p = 0.002), and adverse childhood events (p = 0.016). Autism spectrum disorder diagnostic testing best predicted an ASD diagnosis. The ASD group had significantly higher Autism Diagnostic Observation Schedule (ADOS) Total (p < 0.001) and Comparison scores (p < 0.001) than the non-ASD group. CONCLUSION: Children with ASD diagnostic uncertainty often share similar demographic and clinical features. This study found that family history of non-ASD conditions and child experiences of early adversity are significant factors in differentiating ASD and non-ASD. Child and family factors at point-of-referral may help discern need for an ASD team evaluation including structured observational tools (e.g., ADOS-2) and improve efficiency of assessment planning.

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19. Taylan SB, Bakkaloğlu H. Differences in Prosocial Behaviors of Preschoolers on the Autism Spectrum and Their Non-autistic Peers. J Autism Dev Disord;2026 (Apr 24)

PURPOSE: Prosocial behaviors (PBs) play a significant role in achieving desired outcomes from childhood through adulthood. This necessitates an in-depth examination in children on the autism spectrum (AS), as potential limitations in this area may pose risks for an individual’s entire life. This study aimed to compare PBs of preschoolers on the AS with their non-autistic (NA) peers. METHODS: 50 Turkish-speaking NA children aged between 48 and 72 months, and 50 Turkish-speaking children on the AS aged between 48 and 80 months participated in the study. The groups were matched in terms of nonverbal cognitive competency (NCC). The Coloured Progressive Matrices Test (CPM) was used to assess NCC, and the Prosocial Assessment Protocol (PAP) was used to assess PBs. RESULTS: Differences were found in helping and sharing behaviors, as well as in overall PBs. However, the groups exhibited similar levels of comforting behavior. Additionally, children on the AS needed more social cues to engage in PBs. DISCUSSION: The results align with literature, indicating that children on the AS may experience limitations in PBs real-life situations-based assessments, and that they have a marked need for explicit social cues. Further research is needed to deepen the knowledge on the behavioral and motivational characteristics that influence PBs in children on the AS.

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20. Turner TN. Sex-aware genome-wide assessment of de novo variants in autism across coding and noncoding regions. Hum Genomics;2026 (Apr 24)

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21. Vazquez LR, Tangkilisan G, Fuchu P, Sanders B, Dolata JK, Bedrick S, Fombonne E, Broder-Fingert S, Zuckerman KE. Parent Perspectives on Mobile Health Autism Screeners. J Autism Dev Disord;2026 (Apr 24)

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22. Wang L, Liu T, Yu L, Liu Z, Che C, Yu X, Cai Z, Cao A. Plasma proteome and autism spectrum disorder: Integrative proteome-wide Mendelian randomization with clinical profiling. Neurobiol Dis;2026 (Apr 24):107416.

BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with incompletely elucidated underlying biological mechanisms. Circulating proteins serve as an intermediate molecular layer linking genetic variation to downstream biological processes. This study aimed to systematically investigate the causal associations between the plasma proteome and ASD risk, followed by multi-omic and clinical validation. METHOD: Two-sample Mendelian randomization (MR) was performed to screen 1124 plasma proteins for potential causal links with ASD. Genetically prioritized proteins were further verified using Bayesian colocalization analysis, tissue expression profiling (GTEx), transcriptomic validation (GEO), and co-expression network analyses. In a retrospective cohort of 100 children with ASD, serum concentrations of inflammatory cytokines (IL-6, IL-1β, IL-8, IL-10, TNF-α, IL-2R) and brain injury markers (NSE, S100β) were measured. RESULTS: MR analysis identified 23 plasma proteins nominally associated with ASD risk. After correction for multiple testing, MR identified three proteins associated with ASD risk: MICA (OR = 0.964, protective), SERPIND1 (heparin cofactor II; OR = 0.897, protective), and MAPKAPK3 (OR = 1.046, risk-increasing). Genetically predicted MAPKAPK3 showed moderate evidence of colocalization with ASD (PP·H4 = 0.51), suggesting a shared causal variant. Multi-omic analyses indicated that MAPKAPK3 is broadly expressed in brain tissues, significantly upregulated in the ASD cortex, and tightly co-expressed with inflammation-related genes. Clinically, severe ASD was associated with elevated serum levels of IL-6, IL-1β, and IL-8; IL-1β level were positively correlated with the severity of ASD symptoms. CONCLUSIONS: Integrative evidence from genetic, transcriptomic, network, and clinical analyses supports the involvement of immune-inflammatory pathways in ASD pathogenesis. The MAPKAPK3-centered inflammatory signaling emerges as a genetically supported mechanistic axis, which prioritizing for future functional studies and biomarker development.

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23. Wang X, Rios E, Chen L. E/I imbalance and internal noise cause weak neural representations and face recognition challenges in ASD. Commun Biol;2026 (Apr 24)

Individuals with Autism Spectrum Disorder (ASD) are known for their socio-communicative challenges, including face recognition. It is unclear, however, about its neurocomputational basis and links to neurobiological factors, such as an imbalance of excitatory and inhibitory signals (E/I imbalance) or excessive internal noise (IN). This study employed Convolutional Neural Network (CNN) models to simulate face recognition in typical populations and ASD based on the claims of E/I imbalance and IN theories. We demonstrated that CNN models with non-optimal ReLU slopes or noisy activations yielded poorer performance in face recognition and exhibited atypical neural representations of faces. Overall, simulations based on the E/I imbalance theory seem to encompass a broader range of behavioral and neural profiles in ASD. Our theory-driven approach used CNN models to test neurobiological theories, and our results provide causal evidence on a potential mechanism by which neurobiological factors influence face recognition in ASD.

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24. Wei M, Zhang Q, Zhao Z, Chen L, Tan R. Saffron (Crocus sativus L.): A multi-target phytochemical with potential therapeutic relevance for autism spectrum disorder – A review of pharmacological mechanisms and future perspectives. J Ethnopharmacol;2026 (Apr 24);361:121299.

ETHNOPHARMACOLOGICAL RELEVANCE: Saffron (Crocus sativus L.) has a long history of use in traditional medicine practices across Persia/the Middle East, India, and the Mediterranean region. Traditionally, it has been regarded for its potential to regulate mood, support cognition, and promote sleep. This paper explores saffron’s potential applications and mechanisms of action in autism spectrum disorder (ASD) and related comorbidities (such as anxiety, sleep disorders, and cognitive impairments) from an ethnopharmacological perspective. It integrates pharmacological evidence from saffron’s primary constituents-crocins, crocetin, picrocrocin, and safranal-emphasizing the convergence of traditional medicinal knowledge with modern scientific evidence. AIM OF THE STUDY: This review aims to systematically evaluate the therapeutic potential of saffron (Crocus sativus L.) and its bioactive constituents (crocins, crocetin, picrocrocin, safranal) in ASD, its comorbid conditions, and related neurodegenerative diseases. The goal is to synthesize current evidence on saffron’s mechanisms of action and translational prospects for ASD management. MATERIALS AND METHODS: A comprehensive literature search was conducted across PubMed, Web of Science and Science Direct databases up to May 2025. Search terms included combinations of keywords such as « saffron, » « crocetin, » « autism, » « anxiety, » « depression, » « Alzheimer’s disease, » and « Parkinson’s, » to identify relevant preclinical and clinical studies on saffron’s neuroprotective effects and therapeutic applications. RESULTS: Saffron exhibits pleiotropic neuroprotective effects by modulating multiple key pathways involved in ASD and neurodegeneration, including inhibition of neuroinflammatory signaling pathways such as NF-κB/NLRP3, activation of antioxidant responses via the Nrf2/ARE pathway, and restoring balance between GABAergic and glutamatergic neurotransmission. These mechanisms support saffron’s potential to reestablish neurodevelopmental homeostasis and alleviate core ASD symptoms, along with associated comorbidities such as anxiety and cognitive impairments. CONCLUSION: Saffron is a promising natural multi-target agent with significant translational potential for ASD and related disorders. Its ability to modulate neuroinflammatory, oxidative, and neurotransmission pathways underscores its potential as an adjunctive or alternative therapy. Future research should focus on elucidating precise mechanisms, conducting rigorous clinical validations, and optimizing formulations to facilitate evidence-based integration of saffron into ASD treatment strategies.

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25. Weissgold S, Eley SEA, Wright D, McKechanie AG, Stanfield AC. Autonomic Function in Fragile X Syndrome: A Systematic Review. J Intellect Disabil Res;2026 (Apr 24)

BACKGROUND: Fragile X syndrome (FXS) is a monogenic X-linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these. Therefore, the objective of this review is to systematically examine existing evidence on autonomic function in FXS. METHOD: An electronic literature search was conducted on OVID platforms (Medline, Embase and PsycINFO) and Web of Knowledge databases for references published before 22 April 2025, which physiologically measured autonomic function in FXS. A preregistered search strategy was designed to gather literature on the autonomic nervous system in FXS. RESULTS: A total of 1426 articles were identified, and 28 studies met the inclusion criteria. Samples comprised individuals across the lifespan (ages < 1-71 years), with most studies utilising a case control design to examine indices of autonomic function; 75% of studies found a between-group difference in autonomic function metrics. Of these studies, hyperarousal in the FXS group was present in 86% (N = 18) of studies. Although some studies reported associations of autonomic function with clinical characteristics, findings varied considerably between studies. There was some evidence of potential differences between genders, although more research in female populations is required. Of the 28 included studies, 64% (N = 18) further examined links between autonomic function and clinical characteristics associated with FXS, demonstrating links between relevant clinical symptoms, that is, autistic traits and hyperarousal, as well as potential gender differences in autonomic function. CONCLUSIONS: The findings demonstrate evidence for autonomic hyperarousal as a clinical phenotype in FXS across the lifespan. Future work is required to define whether overactivation of the sympathetic nervous system, as indicated by hyperarousal in FXS, can be linked to clinical symptoms. Variations in sample demographics as well as in methodological approaches to measuring autonomic function both hinder accurate comparison of the results from included studies.

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