1. Beckman PS, Brunson McClain M, Harris B, Brownell A, Beauchesne BM, Davis G, Bera J, Shahid R. Autism disproportionality in racially and ethnically minoritized and girl students in schools. Autism. 2024: 13623613241293046.

Special education services are important for helping autistic students succeed, but many racially and ethnically minoritized and girl students face difficulties in getting support because they are not identified appropriately in schools. This study looks at the identification of autism in racially and ethnically minoritized and girl students across schools in the United States during the 2019-2020 school year. We found that girls are less likely to be identified compared to boys, which means they might not get the help they need. The gap between racially and ethnically minoritized students and White students in autism identification has improved slightly, but Latinx students still face challenges. We also found that where students live (their locale) affects their chances of being identified, especially for girls and Latinx students. These findings show that there are disparities in school autism identification, and understanding them can help policymakers, educators, and communities make changes to ensure all autistic students get the support they need.

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2. Byrne K, Sterrett K, Lord C. Examining the Transition from Single Words to Phrase Speech in Children with ASD: A Systematic Review. Clin Child Fam Psychol Rev. 2024.

« Functional speech » by 5 years of age is widely established as increasing the probability of long-term positive outcomes across a range of domains for autistic individuals. While terms such as « functional » or « useful » speech are often used, what defines these terms is not well established. Furthermore, most research focusing on language development has emphasized the transition from little or no language to use of single words, but much less is known about the transition from single words to phrase speech, which could be equally important. The verb lexicon is foundational to the development of simple, generative phrases and has been linked to prosocial behaviors and general developmental outcomes including better social communication skills, socioemotional reciprocity, and nonverbal communication in autistic children. The current systematic review synthesized information from 20 independent samples to characterize autistic children who transitioned from single words to phrase speech. On average, 48% of the pooled sample transitioned to phrase speech during the study periods. Results were highly variable across studies. Participants under the age of 5 years were more likely to transition to phrases than participants over the age of 5. Though average standard scores were above 50, children who transitioned to phrases generally demonstrated below average adaptive and cognitive skills and moderate-high ASD symptomatology. Variable measures of cognition made it difficult to ascertain patterns in cognitive skills; nonetheless, nonverbal IQ emerged as a salient predictor of the transition to phrases across studies. More research is needed to better understand who transitions beyond single words, clinical benchmarks on the way to generative phrase speech and the factors that predict this transition. Such information can be used to inform clinical decision making and develop or improve targeted interventions based on individual communication profiles. This could make the use of phrases more likely for a greater number of autistic individuals, increasing the likelihood that these individuals communicate independently and effectively with others.

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3. Frechette JD, Murphy L, Castro R, Boyle K. Differential diagnosis: Understanding nonverbal learning disorder and autism spectrum disorder. Appl Neuropsychol Child. 2024: 1-11.

Previous research has suggested that children with Nonverbal Learning Disorder (NLD) share similar clinical profiles to those with autism spectrum disorder (ASD). Three groups of children were identified for the purpose of the current study: NLD (n = 41), ASD (n = 55), and ASD with a NLD profile (n = 17). Children who met DSM-5 criteria for ASD after a neuropsychological evaluation were included in this sample. The NLD group was defined by VSI < VCI, with a minimum of a 15-point discrepancy between indices and average to above average verbal intelligence, whereas children who met DSM-5 criteria for ASD and also demonstrated visual-spatial deficits met criteria for the NLD + ASD group. As anticipated, the ASD group performed better on measures of VSI compared to the NLD and ASD + NLD groups. There was not a significant difference between groups on measures of visuomotor and construction abilities, visual integration, motor processing speed, and academic achievement. No significant differences between groups were found on the CBCL/TRF Social Problems, Attention Problems, or Internalizing/Externalizing Problems scales, indicating similar phenotypes. However, there was a significant difference between groups on the Thought Problems subscale for teacher and parent rating scales. Results corroborate previous research indicating similarities between neuropsychological profiles and suggest that the ASEBA Thought Problems scale may aid in discriminating individuals with ASD from those with NLD.

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4. Jaschke AC, Howlin C, Pool J, Greenberg YD, Atkinson R, Kovalova A, Merriam E, Pallás-Ferrer I, Williams S, Moore C, Hayden K, Allison C, Odell-Miller H, Baron-Cohen S. Correction: Study protocol of a randomized control trial on the effectiveness of improvisational music therapy for autistic children. BMC Psychiatry. 2024; 24(1): 815.

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5. Lee CE, Shikarpurya S. Exploring the Strengths and Resilience of Siblings of People With Intellectual and Developmental Disabilities. J Appl Res Intellect Disabil. 2025; 38(1): e13324.

BACKGROUND AND AIMS: Siblings play a crucial role in shaping and guiding the experiences of their brother or sister with a disability across the lifespan. However, little is known about the positive outcomes of their roles and experiences as siblings. Understanding the positive outcomes challenges stereotypes and the stigma associated with disabilities and allows for a more holistic view of sibling experiences. METHODS: We conducted a survey with 140 adult siblings of people with disabilities to explore their strengths, resilience and community belonging. RESULTS: We found that siblings highly rated their perceived strengths across various domains. Furthermore, siblings maintained high levels of resilience and most belonged to various organisations for social support. We also noted several strengths-based factors that predicted siblings’ resilience. CONCLUSION: Our findings offer significant insights into siblings’ inherent and developed strengths and the role of community networks in promoting sibling resilience and expanding their support systems.

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6. Madley-Dowd P, Ahlqvist VH, Forbes H, Rast JE, Martin FZ, Zhong C, Barry CS, Berglind D, Lundberg M, Lyall K, Newschaffer CJ, Tomson T, Davies NM, Magnusson C, Rai D, Lee BK. Antiseizure medication use during pregnancy and children’s neurodevelopmental outcomes. Nat Commun. 2024; 15(1): 9640.

The teratogenic potential of valproate in pregnancy is well established; however, evidence regarding the long-term safety of other antiseizure medications (ASMs) during pregnancy remains limited. Using routinely collected primary care data from the UK and nationwide Swedish registries to create a cohort of 3,182,773 children, of which 17,495 were exposed to ASMs in pregnancy, we show that those exposed to valproate were more likely to receive a diagnosis of autism, intellectual disability, and ADHD, when compared to children not exposed to ASMs. Additionally, children exposed to topiramate were 2.5 times more likely to be diagnosed with intellectual disability (95% CI: 1.23-4.98), and those exposed to carbamazepine were 1.25 times more likely to be diagnosed with autism (95% CI: 1.05-1.48) and 1.30 times more likely to be diagnosed with intellectual disability (95% CI: 1.01-1.69). There was little evidence that children exposed to lamotrigine in pregnancy were more likely to receive neurodevelopmental diagnoses. While further research is needed, these findings may support considering safer treatment alternatives well before conception when clinically appropriate.

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7. Mazurek MO, Pappagianopoulos J, Brunt S, Menezes M, Smith JV, Howard M. Alexithymia, Inner Thinking Patterns, and Perceptions of Mental Health Therapy Strategies Among Autistic Adults. J Autism Dev Disord. 2024.

PURPOSE: Autistic adults are at high risk for mental health challenges, yet there has been limited research on mental health interventions for this population. Individual differences in how thoughts and emotions are perceived may directly relate to the success of specific therapy strategies. This study examined whether alexithymia and inner thinking patterns relate to helpfulness and ease of use of mental health therapy strategies among autistic adults. METHOD: Participants (n = 269 autistic adults, ages 21-77) completed questionnaires assessing alexithymia, inner thinking patterns (i.e., self-talk, verbal thinking, visual thinking), and experiences with mental health therapy strategies. Ordinal logistic regressions were used to examine associations between alexithymia, inner thinking, and perceived helpfulness and ease of use of therapy strategies. RESULTS: Autistic adults with greater alexithymia found cognitive strategies more difficult to use, while those with greater frequency of self-talk found them easier to use. By contrast, autistic adults with greater visual thinking found guided imagery strategies easier to use. There were no associations between alexithymia or inner thinking and perceived helpfulness or ease of use of behavioral strategies (exposure, behavioral activation), mind-body relaxation strategies (deep breathing, progressive muscle relaxation), or mindfulness meditation. CONCLUSIONS: The findings suggest that some mental health strategies may be more difficult to implement for some autistic adults, depending on individual thinking profiles. However, alexithymia and inner thinking patterns were unrelated to the perceived helpfulness of mental health strategies. Overall, this highlights the importance of providing individualized supports and accommodations to optimize mental health therapy for autistic adults.

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8. Rahmani Z, Rahmani D, Jazi MS, Ghasemi MR, Sadeghi H, Miryounesi M, Razjouyan K, Fayyazi Bordbar MR. Altered expression of Csnk1a1p in Autism Spectrum Disorder in Iranian population: case-control study. Sci Rep. 2024; 14(1): 28307.

Over the past decade, substantial scientific evidence has showed that long non-coding RNAs (lncRNAs) are extensively expressed and play a crucial role in gene modulation through a diverse range of transcriptional, and post-transcriptional mechanisms. Recent discoveries have emphasized the involvement of lncRNAs in maintaining cellular homeostasis and neurogenesis in the brain. Accumulating reports identified dysregulated lncRNAs associated with psychiatric disorders, including autism. In this study, we examined the expression levels of DISC2, Linc00945, Foxg1-as1, Csnk1a1p, and Evf2 lncRNAs in blood samples from 21 clinically diagnosed autistic patients based on the Diagnostic and Statistical Manual of Mental Disorders criteria-5th edition (DSM-5), compared to age, sex, and ethnically-matched 25 healthy individuals. RNA extraction and cDNA synthesis were performed, followed by real-time PCR for quantification of lncRNAs expression levels. Receiver operating characteristic (ROC) curve analysis was used to evaluate biomarker potential. Additionally, we investigated the correlation between gene expression levels and autism comorbidities. Our results showed a significant decrease in Csnk1a1p expression in patients with autism spectrum disorder (ASD) compared to healthy children (P value = 0.0008). ROC curve analysis indicated that Csnk1a1p expression levels could effectively discriminate patients from healthy controls (AUC = 0.837, P value = 0.000284). No significant differences were observed between Csnk1a1p expression levels and comorbidity with ADHD or intellectual disability (p-value > 0.05). Based on these findings, Csnk1a1p may play a significant role in autistic patients and could serve as a potential biomarker for diagnostic and predictive purposes, as well as a therapeutic target.

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9. Rajagopalan SS, Tammimies K. Predicting neurodevelopmental disorders using machine learning models and electronic health records – status of the field. J Neurodev Disord. 2024; 16(1): 63.

Machine learning (ML) is increasingly used to identify patterns that could predict neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). One key source of multilevel data for ML prediction models includes population-based registers and electronic health records. These can contain rich information on individual and familial medical histories and socio-demographics. This review summarizes studies published between 2010-2022 that used ML algorithms to develop predictive models for NDDs using population-based registers and electronic health records. A literature search identified 1191 articles, of which 32 were retained. Of these, 47% developed ASD prediction models and 25% ADHD models. Classical ML methods were used in 82% of studies and in particular tree-based prediction models performed well. The sensitivity of the models was lower than 75% for most studies, while the area under the curve (AUC) was greater than 75%. The most important predictors were patient and familial medical history and sociodemographic factors. Using private in-house datasets makes comparing and validating model generalizability across studies difficult. The ML model development and reporting guidelines were adopted only in a few recently reported studies. More work is needed to harness the power of data for detecting NDDs early.

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10. Saechua C, Sarachana T, Chonchaiya W, Trairatvorakul P, Yuwattana W, Poolcharoen C, Sangritdech M, Saeliw T, van Erp ML, Sangsuthum S, Akarapredee N, Tipnoppanon S, Sukprasong R, Satapornpong P, Atasilp C, Sukasem C, Vanwong N. Impact of gene polymorphisms involved in the vitamin D metabolic pathway on the susceptibility to and severity of autism spectrum disorder. Sci Rep. 2024; 14(1): 28333.

This study explores the association between genetic variations in the vitamin D pathway and autism spectrum disorder (ASD) susceptibility and severity in Thai children. A total of 276 participants, including 169 children with ASD and 107 healthy controls, were recruited. Genotyping of vitamin D pathway genes (CYP2R1, CYP27B1, GC, and VDR) was conducted using TaqMan-based real-time PCR, while serum vitamin D levels were measured by chemiluminescence immunoassay. ASD severity was assessed via the Childhood Autism Rating Scale, 2nd Edition. Results reveal that the VDR gene (ApaI) rs7975232 is linked to a reduced ASD risk. In contrast, the GC gene rs7041 (A > C) polymorphism shows a significant association with increased ASD risk and severity, particularly in individuals with both the GC gene polymorphism and vitamin D insufficiency. Additionally, there was a higher prevalence of the GC1s isoform and GC1s-GC1s haplotype in children with ASD, associated with ASD severity. This study identified that individuals possessing GC rs7041 C alleles and the GC1s genotype (rs7041C/rs4588G) exhibit an increased susceptibility to and more severity of ASD. Further studies with larger cohorts are essential to fully understand these genetic polymorphisms’ roles.

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11. Wang J, Yang R, Zhong H, Liu YJ. Fecal microbiota transplants in pediatric autism: opportunities and challenges. World J Pediatr. 2024.

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12. Zhang L, Geng C, Li S, Tang Q, Liu P, Liu W, Qiu G, Li A, Hu A, Chen F. Anterior piriform cortex dysfunction underlies autism spectrum disorders-related olfactory deficits in Fmr1 conditional deletion mice. Neuropsychopharmacology. 2024.

Previous studies indicated that ASD-related olfactory dysfunctions are rooted in the piriform cortex. However, the direct evidence supporting a causal link between the dysfunction of the piriform cortex and olfactory disorders in ASD is limited. In the present study, we explored the role of anterior piriform cortex (aPC) in ASD-related olfactory disorders by specifically ablating Fmr1, a leading known monogenic cause for ASD, in the pyramidal neurons. Our data demonstrated that the targeted deletion of Fmr1 in aPC pyramidal neurons was sufficient to induce deficits in olfactory detection. In vivo and in vitro electrophysiological recordings showed that the deletion of Fmr1 increased the activity of pyramidal neurons, exhibiting an enhanced excitatory response and a reduced inhibitory response upon odor stimulation. Furthermore, specific deletion of Fmr1 enhanced the power of beta oscillations during odor stimuli, meanwhile, disturbed excitatory and inhibitory synaptic transmission. The abnormal morphology of pyramidal neurons induced by the deletion of Fmr1 may be responsible for the impaired aPC neuronal function. These findings suggest that dysfunction of the aPC may play a role in olfactory impairments observed in ASD models related to Fmr1 deficiency.

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13. Zoromba MA, Atta MHR, Ali AS, El-Gazar HE, Amin SM. The Mediating Role of Psychological Capital in the Relationship Between Family Sense of Coherence and Caregiver Stress Among Parents of Children With Autism Spectrum Disorder. Int J Ment Health Nurs. 2024; 33(6): 2157-69.

Caregiving for children with autism spectrum disorder (ASD) poses significant stress for parents, necessitating an exploration of mitigating factors. This study investigates the interplay between Family Sense of Coherence, Psychological Capital and caregiver stress in this context. A total of 205 caregivers of children with ASD participated in this cross-sectional study. Data were collected on Family Sense of coherence, Psychological Capital (encompassing hope, resilience, optimism and self-efficacy) and caregiver stress. Structural equation modelling was employed to test the mediation effect of psychological capital between family sense of coherence and caregiver stress. The results indicated a strong positive correlation between family sense of coherence and all subdomains of psychological capital, with coefficients ranging from 0.541 to 0.610. Conversely, psychological capital demonstrated significant negative correlations with various domains of the Kingstone Caregiver Stress Scale, including caregiving, family issues and financial issues (coefficients from -0.443 to -0.427). Furthermore, family sense of coherence showed a direct negative effect on stress (β = -0.384, p < 0.001). Notably, the study revealed a significant mediating role of psychological capital in the relationship between family sense of coherence and caregiver stress, with an indirect effect of family sense of coherence on stress through psychological capital (β = -0.127). The findings underscore the crucial role of family sense of coherence and psychological capital in enhancing psychological resources and mitigating stress among caregivers of children with ASD. These results suggest that interventions aimed at strengthening family coherence and building psychological capital could be effective strategies in alleviating stress among caregivers of children with ASD. Healthcare professionals should consider incorporating family coherence approaches and psychological capital techniques in their support programs for these caregivers.

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