1. The global epidemiology and health burden of the autism spectrum: findings from the Global Burden of Disease Study 2021. Lancet Psychiatry. 2024.

BACKGROUND: High-quality estimates of the epidemiology of the autism spectrum and the health needs of autistic people are necessary for service planners and resource allocators. Here we present the global prevalence and health burden of autism spectrum disorder from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 following improvements to the epidemiological data and burden estimation methods. METHODS: For GBD 2021, a systematic literature review involving searches in PubMed, Embase, PsycINFO, the Global Health Data Exchange, and consultation with experts identified data on the epidemiology of autism spectrum disorder. Eligible data were used to estimate prevalence via a Bayesian meta-regression tool (DisMod-MR 2.1). Modelled prevalence and disability weights were used to estimate health burden in years lived with disability (YLDs) as the measure of non-fatal health burden and disability-adjusted life-years (DALYs) as the measure of overall health burden. Data by ethnicity were not available. People with lived experience of autism were involved in the design, preparation, interpretation, and writing of this Article. FINDINGS: An estimated 61·8 million (95% uncertainty interval 52·1-72·7) individuals (one in every 127 people) were on the autism spectrum globally in 2021. The global age-standardised prevalence was 788·3 (663·8-927·2) per 100 000 people, equivalent to 1064·7 (898·5-1245·7) autistic males per 100 000 males and 508·1 (424·6-604·3) autistic females per 100 000 females. Autism spectrum disorder accounted for 11·5 million (7·8-16·3) DALYs, equivalent to 147·6 (100·2-208·2) DALYs per 100 000 people (age-standardised) globally. At the super-region level, age-standardised DALY rates ranged from 126·5 (86·0-178·0) per 100 000 people in southeast Asia, east Asia, and Oceania to 204·1 (140·7-284·7) per 100 000 people in the high-income super-region. DALYs were evident across the lifespan, emerging for children younger than age 5 years (169·2 [115·0-237·4] DALYs per 100 000 people) and decreasing with age (163·4 [110·6-229·8] DALYs per 100 000 people younger than 20 years and 137·7 [93·9-194·5] DALYs per 100 000 people aged 20 years and older). Autism spectrum disorder was ranked within the top-ten causes of non-fatal health burden for people younger than 20 years. INTERPRETATION: The high prevalence and high rank for non-fatal health burden of autism spectrum disorder in people younger than 20 years underscore the importance of early detection and support to autistic young people and their caregivers globally. Work to improve the precision and global representation of our findings is required, starting with better global coverage of epidemiological data so that geographical variations can be better ascertained. The work presented here can guide future research efforts, and importantly, decisions concerning allocation of health services that better address the needs of all autistic individuals. FUNDING: Queensland Health and the Bill & Melinda Gates Foundation.

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2. Al-Zboon EKA, Abdel Latif Moukhles Aljaiuossi N. An Evaluation of a Jordanian Version of the Bruininks-Oseretsky Test of Motor Proficiency Second Edition Brief Form (BOT-2BF) for Use with Children with Autism Spectrum Disorder. Percept Mot Skills. 2024: 315125241308345.

In the current study, we tested a Jordanian version of the Bruininks-Oseretsky Test of Motor Proficiency – Second Edition, Brief Form (BOT2-BF) for use with children with autism. Study participants were a convenience sample of 140 children in Jordan, aged 4-8 years, including70 children with autism spectrum disorder (ASD) and 70 children without disabilities. The BOT 2-BF consists of 12 items divided into eight main areas: fine motor skills, fine motor integration, manual dexterity, bilateral coordination, balance, speed and agility, coordination of the upper extremities, and strength. We administered the Jordanian version of the scale individually to all the participants and found it to have acceptable construct validity, internal item consistency, internal sub-scale correlations, discriminant validity for our two groups, and factorial validity on confirmatory factor analysis. The scale also had acceptable split-half reliability. This study is the first Arabic adaptation of the BOT-2BF, and it is the first study to show utility of this instrument for children with ASD. We present further recommendations for research and practice.

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3. Andrade C. Maternal Cannabis Use in Pregnancy and Autism Spectrum Disorder or Attention-Deficit/Hyperactivity Disorder in Offspring. J Clin Psychiatry. 2024; 86(1).

Up to 10% of women may use cannabis during pregnancy; this is of concern because constituents of cannabis cross the placental barrier and potentially influence neurodevelopment by acting on cannabinoid receptors in the developing fetal brain. In this context, a recent meta analysis of 13 observational studies found that gestational exposure to cannabis was associated with a small increase in the risk of autism spectrum disorder (ASD; relative risk [RR], 1.30) and with an even smaller increase in the risk of attention deficit/hyperactivity disorder (ADHD; RR, 1.13); the latter finding was probably supported by publication bias. In this meta-analysis, 4 studies provided information on ASD (pooled N = 178,565) and 10 on ADHD (pooled N = 203,783). In a large (n = 222,534) retrospectively ascertained cohort study published after the meta-analysis, cannabis use disorder (CUD) recorded before pregnancy, during pregnancy, and during pregnancy plus the year after delivery were associated with closely similar increased risks of ASD (RRs, 3.02-3.21). The risks were smaller in smokers (RRs, 1.74-1.87) than in nonsmokers (RRs, 4.55-4.83) but differed little between male (RRs, 3.01-3.06) and female (RRs, 2.71-2.85) offspring. Although the cohort study had many strengths, its limitations permitted only the conclusion that peri-pregnancy exposure to CUD is associated with a large increase in the risk of ASD in offspring; it remained possible that much of the risk was driven by genetic, environmental, or behavioral variables. The field is nascent; the total number of cannabis exposed pregnancies (with ASD and ADHD as the outcomes) in world literature is small. However, cannabis use during pregnancy is, at the very least, a clear marker for adverse neurodevelopmental outcomes, besides the adverse maternal, fetal, and neonatal outcomes identified in other studies. Healthcare providers who manage women who use cannabis during pregnancy need to be aware of these adverse outcomes.

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4. Andreasen S, Kuntz J, Ames ME, Coombs EC, McMorris C. Where are all the Services: Mapping Community-Based Services for Canadian Autistic Youth with Co-occurring Mental Health Conditions. J Autism Dev Disord. 2024.

PURPOSE: Autistic youth are at heightened risk of mental health issues and face several barriers to accessing appropriate supports. A lack of available services is a common barrier that many autistic youth experience, with only 43% of autistic youth from the US who needed mental health services receiving them. Little is known about the availability of these mental health services in Canada, despite the high prevalence of mental health issues in autistic youth. The current study is one of very few that has reviewed the state of community-based programs and services for the support of mental health challenges in autistic people in North America, and the first such study in Canada. METHODS: Using an environmental scan methodology, we conducted a search of resource listings on various community websites with a filter for « autism ». The resulting websites were then reviewed to find what services providers offer for autistic youth (≥ 25 years) and contacted to complete a survey. RESULTS: 267 listings of mental health supports were identified in the initial search, with 94 sites that specifically mentioned serving autistic youth. 43% (n = 40) of service providers completed a survey about the services they offered, therapeutic approaches, and background training. Providers reported that neurodiversity approaches and multi-disciplinary teams were working well in their practices, yet funding access and society’s views on autism were barriers they face. CONCLUSION: Findings add to the growing body of evidence that availability of services is a systemic barrier that many autistic youth experience when accessing mental health supports.

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5. Aviad S, Shnitzer-Meirovich S, Gur A. Parental Burnout in Israeli Parents of Children with ASD During Wartime: The Role of Child Behavior, Parental Emotion Regulation, Stress, and Social Support. J Autism Dev Disord. 2024.

During emergencies like wartime, parents of children with Autism Spectrum Disorder (ASD) face heightened challenges, potentially leading to Parental Burnout (PB). Wartime conditions can exacerbate children’s behavioral difficulties, contributing to PB. Protective factors such as successful Emotional Regulation (ER) and perceived social support may mitigate PB. This study aims to compare child behavioral problems, parental ER difficulties, perceived social support, stress, and PB between parents of children with ASD and Typical Development (TD) during wartime. It also investigates how ER difficulties, perceived social support, and stress moderate the relationship between child behavioral problems and PB. The study included 213 Israeli parents: 101 parents of children diagnosed with ASD and 112 parents of TD children. Participants were recruited during the « Swords of Iron » War using purposive sampling via online platforms. Findings indicate that children with ASD exhibited higher levels of behavioral problems, and their parents experienced increased difficulties in ER, stress, and PB, alongside decreased perceived social support compared to parents of TD children. Moderation analysis revealed that ER difficulties, perceived social support, and stress moderated the direct association between child behavioral problems and PB specifically among parents of TD children. This study underscores the heightened vulnerability of parents with ASD-diagnosed children during wartime, emphasizing the importance of understanding how these circumstances impact parental well-being and available resources. Effective interventions should target enhancing ER, social support, and addressing parental stress, PB, and child behavioral issues, underscoring the need for prioritized services despite wartime challenges.

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6. Aykutlu HC, Bozatlı L, Görker I, Okyar E, Uzun-Çiçek A, Ucuz İ, Doğru H, Baykal S, Bilaç Ö, Arslan EN, Yıldız N, Alnak A, Turnalı N, Sobay NS. Drug-refractory irritability and related factors in autistic children. Int J Dev Disabil. 2024; 70(7): 1305-17.

OBJECTIVES: Autistic children frequently exhibit irritability, which can manifest as aggression, self-injurious behaviour, and severe tantrums, leading to significant impairments. Two atypical antipsychotics have been licensed by the Food and Drug Administration for the treatment of irritability in autistic children, although a significant percentage of these children do not respond to this treatment. This study aimed to determine the frequency of drug refractory irritability (DRI) and identify the risk factors in a large clinical sample of autistic children. METHODS: The medical records of 1279 children aged 2-18 years diagnosed with autism and undergoing clinical follow-up were retrospectively analysed. Socioeconomic and clinical characteristics, co-occurring psychiatric disorders and physical conditions were recorded. RESULTS: 55% of the sample used antipsychotics to treat irritability, and 8.2% met the DRI criteria. Older age, severe support requirement for autism, language impairment, anxiety disorders, sleep difficulties, gastrointestinal system, and dental problems were found to significantly increase the risk of DRI. CONCLUSION: Our findings indicate that a significant proportion of the clinical sample of autistic children had DRI. The physical, psychiatric, and environmental risk factors identified in our study also highlight heterogeneity in the etiology of DRI. Further research on DRI is needed to develop treatment and prevention strategies.

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7. Baldwin AG, Foley DW, Collins R, Lee H, Jones DH, Wahab B, Waters L, Pedder J, Paine M, Feng GJ, Privitera L, Ashall-Kelly A, Thomas C, Gillespie JA, Schino L, Belelli D, Rocha C, Maussion G, Krahn AI, Durcan TM, Elkins JM, Lambert JJ, Atack JR, Ward SE. Discovery of MDI-114215: A Potent and Selective LIMK Inhibitor To Treat Fragile X Syndrome. J Med Chem. 2024.

LIMKs are serine/threonine and tyrosine kinases responsible for controlling cytoskeletal dynamics as key regulators of actin stability, ensuring synaptic health through normal synaptic bouton structure and function. However, LIMK1 overactivation results in abnormal dendritic synaptic development that characterizes the pathogenesis of Fragile X Syndrome (FXS). As a result, the development of LIMK inhibitors represents an emerging disease-modifying therapeutic approach for FXS. We report the discovery of MDI-114215 (85), a novel, potent allosteric dual-LIMK1/2 inhibitor that demonstrates exquisite kinome selectivity. 85 reduces phospho-cofilin in mouse brain slices and rescues impaired hippocampal long-term potentiation in brain slices from FXS mice. We also show that LIMK inhibitors are effective in reducing phospho-cofilin levels in iPSC neurons derived from FXS patients, demonstrating 85 to be a potential therapeutic candidate for FXS that could have broad application to neurological disorders or cancers caused by LIMK1/2 overactivation and actin instability.

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8. Byiers BJ, Merbler AM, Burkitt CC, Symons FJ. Challenges in Using Parent-Reported Bed and Wake Times for Actigraphy Scoring in Rett-Related Syndromes. Am J Intellect Dev Disabil. 2025; 130(1): 1-12.

Sleep problems are common in Rett syndrome and other neurogenetic syndromes. Actigraphy is a cost-effective, objective method for measuring sleep. Current guidelines require caregiver-reported bed and wake times to facilitate actigraphy data scoring. The current study examined missingness and consistency of caregiver-reported bed and wake times from paper sleep diaries and actigraphy event mark button presses in a sample of 38 individuals with Rett and related syndromes (aged 2-36 years, mean = 13.1) across two 14-day collection time points. Rates of missingness and discrepancy between the 2 sources were relatively high and correlated with clinical severity and quality of life. Overall, the results suggest a need for alternative actigraphy scoring methods that do not rely on caregiver report in this population.

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9. Charman T. Global prevalence of autism in changing times. Lancet Psychiatry. 2024.

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10. Chi J, Song X, Liu J, Oh EG, Zhang Z, Xu Z, Yang H, Yuan H, Zhang Y. Scoliosis in Rett syndrome: a comparative analysis of postoperative complications. J Pediatr Orthop B. 2024.

Rett syndrome, a neurodevelopmental disorder primarily affecting females, presents unique challenges in managing associated scoliosis. This study aims to evaluate the efficacy and challenges of posterior spinal fusion (PSF) in Rett syndrome patients by analyzing postoperative complications. A retrospective cohort study was conducted using a large national database. We included Rett syndrome patients aged 10-18 years who underwent PSF between 2010 and 2020. Outcomes such as medical and surgical complications, emergency department visits, readmissions, mortality, and reoperation rates up to 5 years were compared with a matched neuromuscular scoliosis (NMS) group. The study identified 195 Rett syndrome patients and 973 NMS patients. Post-surgery, Rett syndrome patients showed a significantly higher incidence of pneumothorax (56.9%, P < 0.001), respiratory failure (24.6%, P = 0.013), and pneumonia (26.2%, P < 0.001). Additionally, ileus (7.2%, P = 0.041), acute kidney injury (14.9%, P = 0.029), and urinary tract infections (14.9%, P < 0.001) were also significantly more frequent in the Rett syndrome group. Rett syndrome group also had higher rates of transfusion (11.3%, P = 0.004). Interestingly, the incidence of pseudarthrosis, implant complications, junctional failures, and the necessity for reoperation did not significantly differ at postoperative year 2. Mid-term follow-up showed that the reoperation rates over a 5-year period did not significantly differ between the Rett syndrome and NMS groups. Rett syndrome is associated with increased immediate postoperative complications, necessitating tailored preoperative planning, and intensive postoperative care. Despite these challenges, the mid-term surgical outcomes are comparable to those in NMS patients.

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11. Dimitrova E, Kouroupa A, Totsika V. Resilience in Families of Autistic Children and Children With Intellectual Disability During the COVID-19 Pandemic. Am J Intellect Dev Disabil. 2025; 130(1): 24-40.

Resilience in families of autistic children and children with intellectual disability is associated with factors such as family functioning, social support, and financial strain. Little is known about family resilience during the COVID-19 pandemic when many resources were limited. This study examined the association of family resilience with child characteristics, family resources, and socioecological factors during the pandemic. Data collected during the COVID-19 pandemic from 734 United Kingdom parents/caregivers of children who are autistic and/or have intellectual disability were analyzed using path analysis. Greater family resilience was significantly associated with fewer child behavior problems, absence of intellectual disability, higher financial status, and greater family functioning, though not school support. These factors might guide future research and practices to support vulnerable families at risk of low resilience.

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12. Durak M, Işık Ü. A Rare Case of Dose-Dependent Priapism in a Child with Autism Treated with Aripiprazole and Risperidone. J Child Adolesc Psychopharmacol. 2024.

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13. El-Bouhali-Abdellaoui F, Voltas N, Morales-Hidalgo P, Canals J. Examining the Relationship Between Parental Broader Autism Phenotype Traits, Offspring Autism, and Parental Mental Health. Autism Res. 2024.

Broader Autism Phenotype (BAP) traits may be present in parents of children on the autism spectrum. However, the prevalence and impact of these traits on parental mental health is poorly understood. We explore BAP traits and its relationship to mental health in 228 fathers and 261 mothers from a sample of 266 scholars from the EPINED study (Spain) grouped as follows: non-autism (N = 122), autism traits (N = 93: 38 subthreshold autism and 55 autism symptoms) and autism (N = 51). BAP rates were higher in fathers (36.9%) than in mothers (26.1%). Moreover, BAP was significantly more frequent in fathers of autistic children (52.3%) than in fathers of children without autistic traits (28.0%), with no differences between autistic conditions groups. Mothers of autistic children exhibited higher psychological distress (36.0%) than mothers of comparison group (19.2%). Fathers with BAP obtained significantly higher scores in emotional problems than fathers without BAP. Multivariate analyses showed that, fathers’ emotional problems were associated with their BAP traits, whereas in mothers they were associated with having a child with autism as well as the child’s emotional dysregulation. Identifying BAP in parents of autistic conditions children can help professionals to provide specific strategies for improving the well-being of children and parents.

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14. Elbattah M, Ali Sadek Ibrahim O, Dequen G. Editorial: Improving autism spectrum disorder diagnosis using machine learning techniques. Front Neuroinform. 2024; 18: 1529839.

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15. García-Pérez Á, González-Rodríguez A, Godoy-Giménez M, Sayans-Jiménez P, Cañadas F, Estévez AF. The differential outcomes procedure for improving the recognition of dynamic facial expressions of emotion in people with autism spectrum disorders and first-degree relatives. Psychol Res. 2024; 89(1): 38.

Previous research highlights impairments in the recognition of facial expression of emotion in individuals diagnosed with Autism Spectrum Disorder (ASD). Relatives of people with ASD may exhibit similar, albeit subtler, impairments, referred to as the Broad Autism Phenotype (BAP). Recently, the Differential outcomes procedure (DOP) has been shown to enhance this ability in young adults using dynamic stimuli, with fewer intensity levels required to identify fear and surprise. The present study aimed to extend these findings to adults diagnosed with ASD (ASD group), and relatives of people diagnosed with ASD (BAP group). A Bayesian Generalized Linear Model was employed for statistical inference. The results indicated that the ASD DOP group performed worse than the BAP DOP group in fear trials. The social dimension of autism negatively impacted performance in some conditions, while positive relationships were found between the repetitive behavior dimension and performance for the ASD group. The opposite pattern was observed in the BAP group. These results suggest the importance of considering different dimensions of autism when conducting research on its relationship with other variables. Finally, participants in both ASD and BAP groups required less intensity to identify certain emotions when the DOP was applied, highlighting its potential utility for improving dynamic facial emotion recognition.

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16. Güler HA, Orpay AN, Kılınç K, Yılmaz Ç, Türkoğlu S. The differential diagnostic utility of the social communication questionnaire in mild intellectual disability and autism spectrum disorder: a case control study. Int J Dev Disabil. 2024; 70(7): 1297-304.

OBJECTIVES: This study investigated the utility of specific predictive and discriminative items within the Social Communication Questionnaire (SCQ) for distinguishing between autism spectrum disorder (ASD), intellectual disability (ID), and co-occurring ASD + ID in children. METHODS: A total of 137 children aged 4 to 12 years (52 typically developing (TD), 34 ASD, 26 ID, 25 ASD + ID) were included in the study. Cognitive development assessments were conducted for the ASD, ID, and ASD + ID groups in suitable cases. SCQ items were evaluated both in terms of total and subscale scores and individual items across groups. RESULTS: The TD group had the lowest scores on the SCQ, while the ID group had significantly lower total and communication subscale scores on the SCQ compared to the ASD group. Additionally, there were no significant differences in SCQ scores between the ASD group and the co-occurring ASD + ID group. The ID group had lower scores on both the communication subscale and the total SCQ compared to the co-occurring ASD + ID group. The Receiver Operating Characteristic (ROC) analysis of SCQ total scores for differentiating the ASD + ID group from the ID group revealed an AUC of 0.834 for the total score, with a cutoff of 16.50 (sensitivity: 76%, specificity: 80.8%). Logistic regression identified 29 significant predictors distinguishing ASD + ID from ID, with absence of ‘Group play’ (p = 0.003, OR = 4.010) being the most predictive being in the ASD + ID group. Among the top items in the ROC analysis for the ID and ASD + ID groups, ‘Friends (absence of close or best friends)’, ‘Range of facial expression (absence of normal facial expressions)’, and absence of ‘Head shaking to mean no’ were identified as the highest discriminative factors. CONCLUSIONS: This study highlights the potential of using the SCQ alongside clinical assessments to diagnose ASD in individuals with ID, emphasizing non-verbal communication, participation in group play, presence of close or best friends, and range of facial expression as key distinguishing factors. Further research with larger samples and comparisons of educational interventions based on these indicators is essential for developing tailored educational programs for the ASD + ID group.

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17. Huda S, Khan DM, Masroor K, Warda, Rashid A, Shabbir M. Advancements in automated diagnosis of autism spectrum disorder through deep learning and resting-state functional mri biomarkers: a systematic review. Cogn Neurodyn. 2024; 18(6): 3585-601.

Autism Spectrum Disorder(ASD) is a type of neurological disorder that is common among children. The diagnosis of this disorder at an early stage is the key to reducing its effects. The major symptoms include anxiety, lack of communication, and less social interaction. This paper presents a systematic review conducted based on PRISMA guidelines for automated diagnosis of ASD. With rapid development in the field of Data Science, numerous methods have been proposed that can diagnose the disease at an early stage which can minimize the effects of the disorder. Machine learning and deep learning have proven suitable techniques for the automated diagnosis of ASD. These models have been developed on various datasets such as ABIDE I and ABIDE II, a frequently used dataset based on rs-fMRI images. Approximately 26 articles have been reviewed after the screening process. The paper highlights a comparison between different algorithms used and their accuracy as well. It was observed that most researchers used DL algorithms to develop the ASD detection model. Different accuracies were recorded with a maximum accuracy close to 0.99. Recommendations for future work have also been discussed in a later section. This analysis derived a conclusion that AI-emerged DL and ML technologies can diagnose ASD through rs-fMRI images with maximum accuracy. The comparative analysis has been included to show the accuracy range.

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18. İlgüy M, Yıldırım GK, Eyüboğlu D, Çarman KB, Yarar C. The relationship between serum phenylalanine levels, genotype, and developmental assessment test results in non-phenylketonuria mild hyperphenylalaninemia patients. Eur J Pediatr. 2024; 184(1): 99.

Phenylalanine (PA) levels below 360 µmol/L do not require treatment; however, cognitive deficits have been observed in patients with elevated PA levels, necessitating a safe upper limit for treatment and therapeutic objectives. The main purpose of this study is to evaluate the correlation between developmental assessments (Denver Developmental Screening Test-II [DDST-II] and Ankara Developmental Screening Inventory [ADSI]) and electroencephalogram (EEG) findings with blood PA levels and genotypic data in non-phenylketonuria mild Hyperphenylalaninemia (HPA) patients, to re-evaluate their treatment status based on potential adverse outcomes. This study encompassed 40 patients aged 1-5 years diagnosed with HPA and not on treatment, identified through initial blood PA levels, and monitored for a minimum of 1 year on an unrestricted diet. Data on demographics, serum PA levels during presentation and follow-up, and genetic mutations were retrieved from hospital records. Patients were categorized into two groups as well-controlled (120-240 µmol/L) and at-risk (240-360 µmol/L) based on average PA levels. Sleep-activated EEGs and developmental assessments using the DDST-II and ADSI were conducted to compare outcomes with PA levels and genetic findings. Developmental delays in the DDST-II were observed across language, gross motor, fine motor, and personal-social domains, predominantly in males. No significant difference in delays was noted between the well-controlled and at-risk groups based on PA levels. The ADSI revealed delays in similar developmental areas, with fine motor skills being particularly prominently affected in the at-risk group. Only a well-controlled patient showed abnormal EEG results deemed unrelated to HPA. CONCLUSION: Our findings indicate that children with untreated PA levels above 240 µmol/L are particularly susceptible to fine motor skill impairments, suggesting a need to reassess the PA level thresholds for initiating treatment. This study highlights the potential requirement for amending current guidelines to ensure early and appropriate intervention in non-PKU mild HPA patients, thereby mitigating the risk of developmental delays. WHAT IS KNOWN: • It is known that phenylalanine levels between 120 and 360 μmol/L typically do not require intervention in non-PKU mild HPA patients, but outcomes for levels near this threshold remain unclear. WHAT IS NEW: • Children with PA levels exceeding 240 µmol/L are at a higher risk of fine motor skill impairment, requiring a reassessment of safe PA levels to prevent developmental delays. • In addition, the Denver Developmental Screening Test II reveals developmental delays in multiple areas in children with non-PKU mild HPA, particularly in males, highlighting the need for gender-specific monitoring and intervention strategies.

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19. Jhanji M, Krall CL, Guevara A, Yoon B, Sajish M, Boccuto L, Lizarraga SB. The intersection of inflammation and DNA damage as a novel axis underlying the pathogenesis of autism spectrum disorders. bioRxiv. 2024.

Autism spectrum disorders (ASD) affects 1 in 36 children and is characterized by repetitive behaviors and difficulties in social interactions and social communication. The etiology of ASD is extremely heterogeneous, with a large number of ASD cases that are of unknown or complex etiology, which suggests the potential contribution of epigenetic risk factors. In particular, epidemiological and animal model studies suggest that inflammation during pregnancy could lead to an increased risk of ASD in the offspring. However, the molecular mechanisms that contribute to ASD pathogenesis in relation to maternal inflammation during pregnancy in humans are underexplored. Several pro-inflammatory cytokines have been associated with increased autistic-like behaviors in animal models of maternal immune activation, including IL-17A. Using a combination of ASD patient lymphocytes and stem cell-derived human neurons exposed to IL-17A we discovered a shared molecular signature that highlights a metabolic and translational node that could lead to altered neuronal excitability. Further, our work on human neurons brings forward the possibility that defects in the DNA damage response could be underlying the effect of IL-17A on human excitatory neurons, linking exacerbated unrepaired DNA damage to the pathogenicity of maternal inflammation in connection to ASD.

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20. Khan K, Katarya R. MCBERT: A multi-modal framework for the diagnosis of autism spectrum disorder. Biol Psychol. 2024; 194: 108976.

Within the domain of neurodevelopmental disorders, autism spectrum disorder (ASD) emerges as a distinctive neurological condition characterized by multifaceted challenges. The delayed identification of ASD poses a considerable hurdle in effectively managing its impact and mitigating its severity. Addressing these complexities requires a nuanced understanding of data modalities and the underlying patterns. Existing studies have focused on a single data modality for ASD diagnosis. Recently, there has been a significant shift towards multimodal architectures with deep learning strategies due to their ability to handle and incorporate complex data modalities. In this paper, we developed a novel multimodal ASD diagnosis architecture, referred to as Multi-Head CNN with BERT (MCBERT), which integrates bidirectional encoder representations from transformers (BERT) for meta-features and a multi-head convolutional neural network (MCNN) for the brain image modality. The MCNN incorporates two attention mechanisms to capture spatial (SAC) and channel (CAC) features. The outputs of BERT and MCNN are then fused and processed through a classification module to generate the final diagnosis. We employed the ABIDE-I dataset, a multimodal dataset, and conducted a leave-one-site-out classification to assess the model’s effectiveness comprehensively. Experimental simulations demonstrate that the proposed architecture achieves a high accuracy of 93.4 %. Furthermore, the exploration of functional MRI data may provide a deeper understanding of the underlying characteristics of ASD.

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21. King HC, Kurtz PF, Chin MD, Falligant JM. Characterizing Automatically Maintained Self-Injury With the Aberrant Behavior Checklist. Am J Intellect Dev Disabil. 2025; 130(1): 13-23.

Multidimensional variables linked to repetitive behavior, hyperactivity, and mood dysregulation are correlated with the prevalence and severity of self-injurious behavior (SIB) in individuals with intellectual and developmental disabilities (IDD). The purpose of this exploratory study was to examine differences in Aberrant Behavior Checklist (ABC) subscales between individuals with socially maintained SIB and automatically maintained SIB (ASIB). Overall, there were not significant differences in ABC subscale elevations between the SIB and ASIB groups. However, when ASIB was stratified into distinct subtypes, notable differences in subscale elevations were observed. Our results indicate the ABC may have utility for further characterizing the neurobehavioral divergence among individuals with IDD who engage in self-injury.

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22. Mirzaian CB, Deavenport-Saman A, Hudson S, Betz CL. Health care transition recommendations for young people with intellectual and developmental disabilities and co-occurring mental health conditions: Stakeholder survey findings. Health Care Transit. 2024; 2: 100075.

BACKGROUND: Limited knowledge exists as to the supports and services young people with IDD and co-occurring mental health conditions need to transition to adult-focused health care and adulthood. METHODS: The survey findings presented were part of a larger investigation that explored these service and supports needs obtained from 144 respondents. Data reported for this investigation were obtained from 144 respondents who answered the question, « What do you think would be most helpful to assist young people with IDD and mental health conditions with the transition from child to adult health care (not including mental health care)? »Qualitative analysis based upon the social-ecological model was undertaken. FINDINGS: Based on the social-ecological model (SEM), health care transition needs were reported in four of the five SEM domains-Individual, Family, Provider, and Systems Level. The responses were most frequently categorized in the SEM domains in following descending order: Individual, Provider, System and Family. CONCLUSION: Implications for research and practice suggest that multi-level approach is needed to address the range of service needs for young adults with IDD and co-occurring mental health conditions.

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23. Mitchell M, Spasova A, Syed YA. Unraveling Autism: Using Brain Organoids to Investigate Sex Differences in Brain Development. Biol Psychiatry Glob Open Sci. 2024; 4(5): 100360.

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24. Okumura MJ, Selling SK, Uba A, Martin-Herz SP, Seretan HH, Rosene L, Cohen J, Tebb KP, Rehm RS. Framework for developing self-actualization skills in young adults with autism. Health Care Transit. 2024; 2: 100038.

PURPOSE: Young adults with autism spectrum disorder (YAASD) often lack the skills needed for successful adult living and subsequently develop lower quality of life and health in adulthood. Therefore, we developed a framework to support resilience and improve quality of life in YAASD, which will be used to develop a life-skills curriculum for YAASD. METHODS: We conducted a qualitative study of YAASD, parents of YAASD and service providers recruited from agencies that serve YAASD using Grounded Theory. We focused our interviews on supports and skills needed to enhance quality of life in adulthood. RESULTS: A total of 23 individuals were interviewed. We developed the major theoretical code; « Self-actualization skills in young adults with autism to improve quality of life ». This code recognized the neurodiversity of YAASD as well as comorbid intellectual disability and mental health needs, which often were additional barriers to achieving life goals. We identified the need for developing skills to facilitate both independence and greater insight, including self-care, self-advocacy, and social integration. YAASD struggled in developing skills to adapt to the constantly changing environment that neurotypical adults deal with daily. Factors that would facilitate development of self-actualizing skills include resources that promote creating structure in an adult world that can appear unstructured to YAASD. CONCLUSIONS: Self-actualization for adults requires skills for self-care, decision making, and effective communication. Unfortunately, most programs for YAASD emphasize vocational and simple task performance. Our framework facilitates self-actualization skills to enhance health and wellness, potentially reducing barriers to living meaningfully within the community.

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25. Panagiotakopoulou A, Vasileiou I, Katsarou DV. Investigation of Sexual Education Programs for Adolescents With Autism and the Role of Parents in Providing Support. Mater Sociomed. 2024; 36(2): 155-9.

BACKGROUND: Sexual education of adolescents with autism spectrum disorder (ASD) is a complex challenge, as the lack of specialized programs limits effective learning. Adolescents with ASD have difficulty understanding abstract concepts such as consent, personal boundaries and safety, which increases the risk of exploitation. OBJECTIVE: This study seeks to examine the experiences and challenges parents face in providing sexuality education to their children with ASD, highlighting the need for programs that respond to the particular needs of these adolescents. METHODS: The research was based on a qualitative methodology, using semi-structured interviews with 10 parents of adolescents with autism, aged 12-18 years. Thematic analysis of the data revealed important categories related to sexuality, consent, personal boundaries, and safety. RESULTS: Parents face serious difficulties in communicating these issues with their children. The lack of specialized tools and limited support from the education system make it difficult to provide sex education. The need for practical examples and repeated teaching was emphasized. CONCLUSION: The research highlights the imperative to develop tailored sex education programs that will help adolescents with ASD understand critical concepts. Collaboration between parents, educators and health professionals is vital to strengthen sexuality education and protect adolescents from potential risks of exploitation.

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26. Pettinato F, Valle MS, Cioni M, Cirnigliaro L, Rizzo R, Barone R, Bosco G, Casabona A. Dynamical complexity of postural control system in autism spectrum disorder: a feasibility study of linear and non-linear measures in posturographic analysis of upright posture. J Neuroeng Rehabil. 2024; 21(1): 225.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder, characterized by impairments in social interaction and communication with restricted and repetitive behavior. Postural and motor disturbances occur more often in ASD, in comparison to typically developing subjects, affecting the quality of life. Linear and non-linear indexes derived from the trajectory of the center of pressure (COP) while subjects stand on force platforms are commonly used to assess postural stability. The aim of the present feasibility study was to investigate whether combining linear and non-linear parameters of the COP during stance in subjects with ASD, could provide insight on specific features of motor dysfunction possibly linked to ASD cognition and clinical characteristics. METHODS: Twenty-two males, aged 10-15 years, including subjects with ASD and healthy controls (N = 11, respectively), were studied. They all had normal cognitive level and independent walking ability. A piezoelectric force platform was used to evaluate posture over three feet positions, with eyes open, closed and during visually-guided saccades. Linear (sway path, total area and root mean square) and non-linear parameters (fractal dimension and sample entropy) of the COP were measured to determine postural stability and the complexity and regularity of the COP signals. GLMM analyses were performed to assess COP parameter changes across experimental conditions and subject groups. Finally, Spearman correlations evaluated the significance of potential relationships between linear and non-linear measures as well as between non-linear parameters and clinical data in patients with ASD. RESULTS: Compared to controls, subjects with ASD showed reduced postural stability and complexity, with higher regularity of COP trajectories, particularly in the most unstable feet positions, during visually-guided saccades and in the medial-lateral direction. Spearman correlations indicated that, in the patients’ group, postural instability was associated with a decrease in the geometric complexity and an increase in the regularity of the COP trajectory. Moreover, the increase in regularity of the COP trajectory was associated to the severity of restricted and repetitive behavior. CONCLUSIONS: The results of this study highlight the importance of combining linear and non-linear measures in evaluating postural control in patients with ASD, also with respect to the outcome of interventions on these patients targeting postural balance.

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27. Rock JL, Becker HA. Exploring adolescent and parent perspectives on facilitating health self-management in adolescents with autism spectrum disorder. Health Care Transit. 2024; 2: 100046.

BACKGROUND: As many as 95% of individuals across the lifespan with autism spectrum disorder (ASD) have at least one comorbidity. While research focused only on the health of autistic adolescents is limited, we do know that fewer than 14% of these youth receive appropriate transition services to self-manage their health. These limitations have resulted in poor outcomes and premature mortality. Little is known about how parents and their adolescent children address this health burden. OBJECTIVE: The objective of this study is twofold. First to compare the perceptions of adolescents with ASD and their parents regarding adolescents’ contextual and process variables (depressive symptoms, health knowledge, health communication/planning, self-efficacy, self-determination) and health self-management (HSM) behavior. The second is to examine social facilitation for HSM behaviors in adolescents with ASD and their parents. METHODS: In this community-based study, an online survey was used to compare the perspectives of 40 adolescents with ASD aged 12 to 22 years and their parents on the adolescents’ HSM behaviors. Contextual and process variable measures (PROMISE, Star(x), General Self-efficacy Scale, AIR Self-determination Scale, Social Facilitation Questionnaire) were completed by both adolescents (adolescent/pediatric version) and parents (parent version). RESULTS: Descriptive analysis indicated that parents were teaching self-management to adolescents for monitoring and preventing illness, including medication knowledge and how to talk to their doctor. The largest differences were found between parents’ and adolescents’ perceptions regarding teaching and learning about independent management of existing health conditions. Additionally, adolescents rated their self-efficacy (t (38) = 3.62, p < .001) and self-determination (t (39) = 4.55, p < .001) significantly higher than their parents did. CONCLUSIONS: This study contributes perspectives on what parents and adolescents are doing to enhance adolescents' health self-management. Adolescence is a developmental period of social facilitation when parents may teach their adolescent children with ASD to self-manage their health and when those adolescents may learn to do so. During this period, providers should offer adequate planning and guided training to support parents and their adolescent children with ASD to improve adolescents' self-management behaviors and improve health outcomes for this vulnerable population.

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28. Şahin B. Evaluation of carotid intima media thickness as an early marker of atherosclerosis in children and adolescents with autism spectrum disorder: a case-control study. Int J Dev Disabil. 2024; 70(7): 1126.

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29. Segura P, Pagani M, Bishop SL, Thomson P, Colcombe S, Xu T, Factor ZZ, Hector EC, Kim SH, Lombardo MV, Gozzi A, Castellanos XF, Lord C, Milham MP, Martino AD. Connectome-based symptom mapping and in silico related gene expression in children with autism and/or attention-deficit/hyperactivity disorder. medRxiv. 2024.

Clinical, neuroimaging and genomics evidence have increasingly underscored a degree of overlap between autism and attention-deficit/hyperactivity disorder (ADHD). This study explores the specific contribution of their core symptoms to shared biology in a sample of N=166 verbal children (6-12 years) with rigorously-established primary diagnoses of either autism or ADHD (without autism). We investigated the associations between inter-individual differences in clinician-based dimensional measures of autism and ADHD symptoms and whole-brain low motion intrinsic functional connectivity (iFC). Additionally, we explored their linked gene expression patterns in silico. Whole-brain multivariate distance matrix regression revealed a transdiagnostic association between autism severity and iFC of two nodes: the middle frontal gyrus of the frontoparietal network and posterior cingulate cortex of the default mode network. Across children, the greater the iFC between these nodes, the more severe the autism symptoms, even after controlling for ADHD symptoms. Results from segregation analyses were consistent with primary findings, underscoring the significance of internetwork iFC interactions for autism symptom severity across diagnoses. No statistically significant brain-behavior relationships were observed for ADHD symptoms. Genetic enrichment analyses of the iFC maps associated with autism symptoms implicated genes known to: (i) have greater rate of variance in autism and ADHD, and (ii) be involved in neuron projection, suggesting shared genetic mechanisms for this specific brain-clinical phenotype. Overall, these findings underscore the relevance of transdiagnostic dimensional approaches in linking clinically-defined phenomena to shared presentations at the macroscale circuit- and genomic-levels among children with diagnoses of autism and ADHD.

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30. Singer H, Clarke EB, Schiltz HK, Lord C. Caregivers and Coping: Well-Being, Depression, and Coping Strategies Among Caregivers of Young Adults With Developmental Disabilities. Am J Intellect Dev Disabil. 2025; 130(1): 41-62.

This 10-year study followed 134 caregivers of young adults with autism and intellectual disabilities, examining the effects of caregivers’ coping strategies, sociodemographic features, and young adult symptomatology on caregiver well-being and depression. Lower caregiver education and higher young adult externalizing behaviors predicted lower well-being and higher depression among caregivers. Caregivers who were Black or mixed-race experienced higher depression than White caregivers. All five coping strategies investigated predicted changes in caregiver well-being and/or depression, with some effects moderated by young adult externalizing behaviors and sociodemographic features. Notably, higher use of positive coping among caregivers of adults with high externalizing behaviors predicted higher caregiver well-being and lower depression. Findings highlight the importance of effective coping strategies for improving caregiver mental health.

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31. Tang D, Chen A, Xu J, Huang Y, Fan J, Wang J, Zhu H, Pi G, Yang L, Xiong F, Luo Z, Li G, Zeng L, Zhu S. Genetic analysis of partial duplication of the long arm of chromosome 16. BMC Med Genomics. 2024; 17(1): 294.

BACKGROUND: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV). The primary clinical phenotypes associated with this syndrome include abnormal facial morphology, global developmental delay (GDD), short stature, and reported predisposing factors for atypical behavior, autism, the development of learning disabilities, and neuropsychiatric disorders. The dosage-sensitive genes associated with partial trisomy are not disclosed preventing to establish a genotype-phenotype correlation. METHODS: We report a case of a Chinese patient diagnosed with GDD and an abnormal facial shape, who was found to have partial trisomy 16 through karyotyping and high-throughput sequencing analysis. Karyotype and CNV tracing analyses were also conducted on the biological parents of the patient to assess for any chromosomal structural abnormalities. Additionally, we included 29 patients with pure partial trisomy 16q, reported in the DECIPHER database and the literature. We and performed a genotype-phenotype correlation analysis. RESULTS: The proband, a 2-year-old female, was found to have a de novo 21.96 Mb duplication located between 16q12.1q22.1, with no other deletions observed on other chromosomes, indicating a pure partial trisomy of 16q. Through genotype and phenotype analysis of 29 individuals, we found that patients with the duplicated region located at the distal region of 16q may exhibit more severe symptoms than those with duplication at the proximal region; however, no relationship was identified between phenotype and the size of the duplicated segment. CONCLUSION: We report, for the first time, a patient with partial trisomy 16q validated by multiple genetic tests, including CNV-seq, whole exome sequencing (WES), and karyotyping. It is speculated that partial trisomy of 16q may be associated with continuous gene duplication. However, functional studies are necessary to identify the causative gene or critical region linked to duplication syndrome of chromosome 16q.

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32. Vasa RA, Kalari VK, Kitchen CA, Kharrazi H, Campo JV, Wilcox HC. Suicide Risk Screening in Children and Adolescents with Autism Spectrum Disorder Presenting to the Emergency Department. Jt Comm J Qual Patient Saf. 2024.

BACKGROUND: Youth with autism spectrum disorder (ASD) are over three times more likely to experience suicidal thoughts and behaviors (STB) than children in the general population. Screening to detect suicide risk is therefore critical for youth with ASD. This study examines the capacity of the Ask Suicide-Screening Questions (ASQ), a standard suicide screening tool, to detect suicide risk in children and adolescents with ASD who present to the pediatric emergency department (PED). METHODS: This is a retrospective chart review of 393 (2.1%) youth with ASD and 17,964 (97.9%) youth without ASD, aged 8 to 21 years, who presented to the PED of a large urban academic medical center between 2017 and 2020. During the study period, the ASQ was universally administered to children and adolescents who presented to the PED for any reason. Data extracted from the electronic health record included demographic information, presenting concerns, ASD diagnosis, and ASQ results. RESULTS: Autistic children and adolescents were more likely to present to the PED with STB at the first PED visit compared to non-autistic children (12.7% vs. 4.4%, p < 0.001). In both autistic and non-autistic groups, presenting concerns about STB were significantly associated with a positive ASQ screen. More autistic youth were found to have a positive ASQ without STB as their chief presenting complaint as compared to non-autistic youth (22.6% vs. 11.6%, p < 0.001). Youth with ASD endorsed each item of the ASQ at roughly twice the rate of those without ASD. CONCLUSION: This preliminary descriptive study indicates that the ASQ may be a promising screening tool to assess suicide risk in autistic individuals. Further research on the predictive validity and overall reliability of the ASQ in youth with ASD is recommended.

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