1. Aldegheri L, Kharrat F, Conti A, Monica F, Busa F, Campisciano G, Zanotta N, Cason C, Comar M. Impact of Human Milk Oligosaccharides and Probiotics on Gut Microbiome and Mood in Autism: A Case Report. Microorganisms;2024 (Aug 9);12(8)

Recent evidence has highlighted the role of the gut-brain axis in the progression of autism spectrum disorder (ASD), with significant changes in the gut microbiome of individuals with this condition. This report investigates the effects of probiotics and human milk oligosaccharide (HMO) supplements on the gut microbiome, inflammatory cytokine profile, and clinical outcomes in an ASD adolescent with chronic gastrointestinal dysfunction and cognitive impairment. Following treatment, we observed a decrease in proinflammatory cytokines’ concentration alongside Sutterella relative abundance, a bacterium reported to be linked with gastrointestinal diseases. Also, we reported a notable increase in mood stability. The study aims to evaluate the use of gut microbiome-based therapy in selected ASD patients, highlighting its potential to improve related clinical symptoms.

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2. Alegría PL, Landim SF, Branco BHM, Carmine F, Birditt K, Sandoval C, González MM. Dental Hygiene Challenges in Children with Autism: Correlation with Parental Stress: A Scoping Review. J Clin Med;2024 (Aug 9);13(16)

Children diagnosed with autism spectrum disorders are shown to have poor periodontal health and dental hygiene habits. Extensive research has revealed that parents of children with autism spectrum disorder (ASD) frequently encounter heightened levels of stress, despair, and anxiety in comparison to parents of neurotypical children. The aim was to understand the relationship between the dental hygiene of children with ASD and the stress generated in their parents. Methods: A scoping review was carried out to identify any gaps or research opportunities for clinical practice concerning oral care and stress levels in parents in the PubMed, Medline, ScienceDirect, and Scopus databases. Results: A total of 139 articles were reviewed. Of these, only 10 met the selection criteria for inclusion. Our results reveal a lack of studies presenting evidence on the topic of poor dental hygiene in children with ASD and high stress levels in their parents. Discussion: There is ample evidence that children with ASD have poor dental hygiene, as well as higher levels of stress in their parents. However, little or no evidence links these two variables. Future studies should focus on this link, which could have practical implications for improving dental care for children with ASD.

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3. Alghamdi MS, Awali A. Predictors of health-related quality of life (HRQoL) for caregivers of children with developmental disabilities in Saudi Arabia: An observational study. Medicine (Baltimore);2024 (Aug 9);103(32):e39206.

To examine predictors of health-related quality of life (HRQoL) for caregivers of children with developmental disabilities, a cross-sectional design was used. Participants were primary caregivers of children with developmental disabilities. Caregivers completed a demographic form about the child and the family, and the Arabic version of Patient-Reported Outcomes Measurement Information System-Profile 29 (PROMIS-29 v2.0). Descriptive statistics were used to report on demographic data, 1-sample Z tests to compare PROMIS domain scores with the general population, and multiple linear regression analyses to identify predictors of each domain. Participants were 111 primary caregivers, mostly mothers (65.8%). Caregivers reported higher levels of anxiety, depression, fatigue, sleep disturbance, and pain interference, and lower levels of physical function and social participation compared to the general population, P < .05. The regression models for predicting the HRQoL accounted for 12.3% of the variance in the physical function domain (P = .016), 13.9% in the anxiety domain (P = .009), 24.7% in the ability to engage in social activities and roles (P < .001), and 11.4% in the pain interference domain (P = .02). In these models, the severity of the child's disability and/or the child's age were common significant predictors. Specifically, child's age was the only significant predictor in 2 domains, the anxiety domain (β = -.29, P < .01) and ability to participate in social activities and roles domain (β = .42, P < .05). The severity of the child's disability was the only significant predictor in the physical function domain (β = -.52, P < .01). Both the severity of the child's disability and the child's age were significant predictors in the pain interference model (β = .40, P < .05), and (β = -.23, P < .05), respectively. However, the models did not significantly predict depression, fatigue, or sleep disturbance, P > .05. HRQoL is a complex construct and is influenced by multiple child and family factors. Implications of the study emphasize the importance of regular HRQoL screening for caregivers, the development of efficient referral systems for support services, and the exploration of respite care options.

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4. Anderer S. One in 5 Children Have Autism If Older Sibling Does Too. Jama;2024 (Aug 9)

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5. Bedford SA, Lai MC, Lombardo MV, Chakrabarti B, Ruigrok A, Suckling J, Anagnostou E, Lerch JP, Taylor M, Nicolson R, Stelios G, Crosbie J, Schachar R, Kelley E, Jones J, Arnold PD, Courchesne E, Pierce K, Eyler LT, Campbell K, Barnes CC, Seidlitz J, Alexander-Bloch AF, Bullmore ET, Baron-Cohen S, Bethlehem RAI. Brain-charting autism and attention deficit hyperactivity disorder reveals distinct and overlapping neurobiology. Biol Psychiatry;2024 (Aug 9)

BACKGROUND: Autism and attention deficit hyperactivity disorder (ADHD) are heterogeneous neurodevelopmental conditions with complex underlying neurobiology that is still poorly understood. Despite overlapping presentation and sex-biased prevalence, autism and ADHD are rarely studied together, and sex differences are often overlooked. Population modelling, often referred to as normative modelling, provides a unified framework for studying age-specific and sex-specific divergences in brain development. METHODS: Here we used population modelling and a large, multi-site neuroimaging dataset (N = 4255 after quality control) to characterise cortical anatomy associated with autism and ADHD, benchmarked against models of average brain development based on a sample of over 75,000 individuals. We also examined sex and age differences, relationship with autistic traits, and explored the co-occurrence of autism and ADHD (autism+ADHD). RESULTS: We observed robust neuroanatomical signatures of both autism and ADHD. Overall, autistic individuals showed greater cortical thickness and volume, that was localised to the superior temporal cortex, whereas individuals with ADHD showed more global increases in cortical thickness, but lower cortical volume and surface area across much of the cortex. The autism+ADHD group displayed a unique pattern of widespread increases in cortical thickness, and certain decreases in surface area. We also found evidence that sex modulates the neuroanatomy of autism but not ADHD, and an age-by-diagnosis interaction for ADHD only. CONCLUSIONS: These results indicate distinct cortical differences in autism and ADHD that are differentially impacted by age, sex, and potentially unique patterns related to their co-occurrence.

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6. Cary E, Arnold E. Early intervention in autism: where do we go from here?. Evid Based Nurs;2024 (Aug 9)

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7. Di Gesù CM, Buffington SA. The early life exposome and autism risk: a role for the maternal microbiome?. Gut Microbes;2024 (Jan-Dec);16(1):2385117.

Autism spectrum disorders (ASD) are highly heritable, heterogeneous neurodevelopmental disorders characterized by clinical presentation of atypical social, communicative, and repetitive behaviors. Over the past 25 years, hundreds of ASD risk genes have been identified. Many converge on key molecular pathways, from translational control to those regulating synaptic structure and function. Despite these advances, therapeutic approaches remain elusive. Emerging data unearthing the relationship between genetics, microbes, and immunity in ASD suggest an integrative physiology approach could be paramount to delivering therapeutic breakthroughs. Indeed, the advent of large-scale multi-OMIC data acquisition, analysis, and interpretation is yielding an increasingly mechanistic understanding of ASD and underlying risk factors, revealing how genetic susceptibility interacts with microbial genetics, metabolism, epigenetic (re)programming, and immunity to influence neurodevelopment and behavioral outcomes. It is now possible to foresee exciting advancements in the treatment of some forms of ASD that could markedly improve quality of life and productivity for autistic individuals. Here, we highlight recent work revealing how gene X maternal exposome interactions influence risk for ASD, with emphasis on the intrauterine environment and fetal neurodevelopment, host-microbe interactions, and the evolving therapeutic landscape for ASD.

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8. Du B, Zhang W, Chen L, Deng X, Li K, Lin F, Jia F, Su S, Tang W. Higher or lower? Interpersonal behavioral and neural synchronization of movement imitation in autistic children. Autism Res;2024 (Aug 8)

How well autistic children can imitate movements and how their brain activity synchronizes with the person they are imitating have been understudied. The current study adopted functional near-infrared spectroscopy (fNIRS) hyperscanning and employed a task involving real interactions involving meaningful and meaningless movement imitation to explore the fundamental nature of imitation as a dynamic and interactive process. Experiment 1 explored meaningful and meaningless gesture imitation. The results revealed that autistic children exhibited lower imitation accuracy and behavioral synchrony than non-autistic children when imitating both meaningful and meaningless gestures. Specifically, compared to non-autistic children, autistic children displayed significantly higher interpersonal neural synchronization (INS) in the right inferior parietal lobule (r-IPL) (channel 12) when imitating meaningful gestures but lower INS when imitating meaningless gestures. Experiment 2 further investigated the imitation of four types of meaningless movements (orofacial movements, transitive movements, limb movements, and gestures). The results revealed that across all four movement types, autistic children exhibited significantly lower imitation accuracy, behavioral synchrony, and INS in the r-IPL (channel 12) than non-autistic children. This study is the first to identify INS as a biomarker of movement imitation difficulties in autistic individuals. Furthermore, an intra- and interindividual imitation mechanism model was proposed to explain the underlying causes of movement imitation difficulties in autistic individuals.

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9. Feidner MJ. Burning Bridges and Building New Ones: A Story of Autistic Burnout in the Workplace. Autism Adulthood;2024 (Jun);6(2):117-118.

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10. Ferreira JM, Muniz LS. Material Engagement Shaping Participation of Children on the Autism Spectrum: Embodiment and Subjectivity in Small-Group Learning. Eur J Psychol;2024 (May);20(2):143-164.

This study investigated the material engagement and their affordances for participation of children on the autism spectrum (AS) in small-group learning. Framed by a methodology called Idea Diary that fosters social interactions in classroom environments, our focus was on understanding how and when the construction and manipulation of the diary supported children’s participation and knowledge construction in small groups. This investigation was guided by the intersection of the theory of subjectivity developed by Fernando González Rey and enactive accounts of cognition. This framework provided the view of the singularity in the communicative process of children on the AS and the necessary support for examining the mechanisms of engagement that led to children’s participation. We present two case studies of 9-10-year-old boys. Data consists of the diaries produced and used by children and video recordings of children’s interactions during small-group discussions. Our analytical approach included a qualitative semiotic analysis of the materials and a micro-analysis of the social interactions. The results showed, first, that children on the AS continuously engaged in the construction of the diary, expressing elements of their subjectivity-experiences, ideas and the system through which they interact with the world. Repetition framed children’s productions and signalled engagement. Second, material engagement enabled participatory sense-making, which in this study appeared in creating new communicative resources between the child on the AS and their peers and in adapting the narratives, approximating children’s perspectives in conversations. Although contextualised within a specific pedagogical practice, the study contributes to advancing our understanding of the role of material engagement in social participation in learning situations involving children on the AS, particularly relevant in educational psychology and education.

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11. Frizell CA. Re: « ‘I’ve Spent My Whole Life Striving to Be Normal’: Internalized Stigma and Perceived Impact of Diagnosis in Autistic Adults » by Huang et al.: Late Diagnosis Illuminated-Perspectives on Autism Resilience and Complexity. Autism Adulthood;2024 (Jun);6(2):247-248.

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12. Gao Y, Shonai D, Trn M, Zhao J, Soderblom EJ, Garcia-Moreno SA, Gersbach CA, Wetsel WC, Dawson G, Velmeshev D, Jiang YH, Sloofman LG, Buxbaum JD, Soderling SH. Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions. Nat Commun;2024 (Aug 9);15(1):6801.

One of the main drivers of autism spectrum disorder is risk alleles within hundreds of genes, which may interact within shared but unknown protein complexes. Here we develop a scalable genome-editing-mediated approach to target 14 high-confidence autism risk genes within the mouse brain for proximity-based endogenous proteomics, achieving the identification of high-specificity spatial proteomes. The resulting native proximity proteomes are enriched for human genes dysregulated in the brain of autistic individuals, and reveal proximity interactions between proteins from high-confidence risk genes with those of lower-confidence that may provide new avenues to prioritize genetic risk. Importantly, the datasets are enriched for shared cellular functions and genetic interactions that may underlie the condition. We test this notion by spatial proteomics and CRISPR-based regulation of expression in two autism models, demonstrating functional interactions that modulate mechanisms of their dysregulation. Together, these results reveal native proteome networks in vivo relevant to autism, providing new inroads for understanding and manipulating the cellular drivers underpinning its etiology.

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13. Genovesi E, Ahmed I, Ayele M, Belay W, Burningham O, Chen A, Girma F, Tesfaye Lakew L, Hanlon C, Hoekstra RA. Exploring context for implementation of inclusive education for children with developmental disabilities in mainstream primary schools in Ethiopia. PLoS One;2024;19(8):e0307576.

A large gap in provision of services for children with developmental disabilities (DD) has been identified in Ethiopia, especially in the education system. Including children with disabilities in mainstream schools is encouraged by policies, but progress in this direction has been limited. This study aimed to explore stakeholders’ perspectives on contextual factors relevant for inclusive education for children with DD in mainstream schools in Ethiopia, with a focus on Adis Ababa. Data were collected through semi-structured interviews with 39 local stakeholders, comprising caregivers of children with DD, school teachers and principals/managers, non-governmental organisation representatives, government officials, clinicians and academics/consultants. We used template analysis to code the data and map them onto domains of the Context and Setting dimensions of the Context and Implementation of Complex Interventions framework. Stakeholders discussed frameworks in the Legal and Ethical context endorsing the right of all children to education. However, they reported multiple reasons why children with DD in Ethiopia have limited access to education, either in special or mainstream schools. First, individual features, such as gender and support needs, discussed in the Epidemiological context, may affect the likelihood of a child with DD to be accepted in school. Transportation challenges are a key barrier in the Geographical context. Socio-economic and Socio-cultural contexts present barriers at the levels of the nation, school and family, mostly related to limited services and material and financial resources and limited awareness of DD. Stakeholders believe the currently limited but growing commitment in the Political context can support progress towards the removal of these barriers. Our findings can form the basis for development of an implementation plan that addresses such barriers and capitalises on existing facilitators.

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14. Harker SA, Baxter LC, Gallegos SM, Mitchell MM, Zerga L, Matthews NL, Braden BB. Adapting the PEERS(®) for Young Adults Program for Autistic Adults across the Lifespan. Healthcare (Basel);2024 (Aug 9);12(16)

The Program for the Education and Enrichment of Relational Skills (PEERS(®)) is an evidence-based intervention developed for autistic individuals to support social communication, peer interactions, independence, and interpersonal relationships. Despite a demonstrated effectiveness for young autistic individuals in the US and several other countries, PEERS has yet to be modified to support the needs of autistic adults across the lifespan. The present study describes how our team sought autistic voices to adapt PEERS for adults of any age. Specifically, we aimed to address the needs of middle-aged and older adults and adapt the curriculum to be more neurodiversity-affirming. Between two cohorts that completed the program consecutively, we evaluated the acceptability of the adapted PEERS program and made refinements based on feedback from autistic participants and their study partners. Results indicated that Cohort 2 reported higher satisfaction with the PEERS components and overall program than Cohort 1, suggesting effective refinement. We present a framework of adaptations that more specifically address the needs of middle-aged and older adults in a neurodiverse-affirming way compared to previous iterations. Our approach to implementing an adapted PEERS curriculum across the adult lifespan may serve as a model for improved clinical care and cultivate the acceptance of neurodiversity in the interpersonal domains of autistic adults’ lives.

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15. Kereszturi É. Database-assisted screening of autism spectrum disorder related gene set. Mol Brain;2024 (Aug 9);17(1):55.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social and communication difficulties, along with repetitive behaviors. While genetic factors play a significant role in ASD, the precise genetic landscape remains complex and not fully understood, particularly in non-syndromic cases. The study performed an in silico comparison of three genetic databases. ClinVar, SFARI Gene, and AutDB were utilized to identify relevant gene subset and genetic variations associated with non-syndromic ASD. Gene set enrichment analysis (GSEA) and protein-protein interaction (PPI) network analysis were conducted to elucidate the biological significance of the identified genes. The integrity of ASD-related gene subset and the distribution of their variations were statistically assessed. A subset of twenty overlapping genes potentially specific for non-syndromic ASD was identified. GSEA revealed enrichment of biological processes related to neuronal development and differentiation, synaptic function, and social skills, highlighting their importance in ASD pathogenesis. PPI network analysis demonstrated functional relationships among the identified genes. Analysis of genetic variations showed predominance of rare variants and database-specific distribution patterns. The results provide valuable insights into the genetic landscape of ASD and outline the genes and biological processes involved in the condition, while taking into account that the study relied exclusively on in silico analyses, which may be subject to biases inherent to database methodologies. Further research incorporating multi-omics data and experimental validation is warranted to enhance our understanding of non-syndromic ASD genetics and facilitate the development of targeted research, interventions and therapies.

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16. Lampri S, Peristeri E, Marinis T, Andreou M. Metaphor comprehension and production in verbally able children with Autism Spectrum Disorder. Autism Res;2024 (Aug 9)

Research in the field of figurative language processing in Autism Spectrum Disorders (ASD) has demonstrated that autistic individuals experience systematic difficulties in the comprehension of different types of metaphors. However, there is scarce evidence regarding metaphor production skills in ASD. Importantly, the exact source of metaphor processing difficulties in ASD remains largely controversial. The debate has mainly focused on the mediating role of structural language skills (i.e., lexical knowledge) and cognitive abilities (i.e., Theory of Mind and executive functions) in ASD individuals’ ability to comprehend and generate metaphors. The present study examines metaphor comprehension and production in 18 Greek-speaking verbally able children with ASD and 31 typically-developing (TD) controls. Participants completed two tasks, namely, a low-verbal multiple-choice sentence-picture matching task that tested their ability to comprehend conventional predicate metaphors, and a sentence continuation task that assessed their ability to generate metaphors. The study also included measures of fluid intelligence, expressive vocabulary, and working memory within the sample. The results show that the ASD group had significantly lower performance than the TD group in both metaphor comprehension and production. The findings also reveal that expressive vocabulary skills were a key factor in the metaphor comprehension and production performance of the children with ASD. Working memory capacity was also found to correlate significantly with metaphor comprehension performance in the ASD group. Conversely, no correlations were found in the TD group with neither of the above factors. Of note, children with ASD generated significantly more inappropriate responses and no-responses to the metaphor production task compared with the control group. The overall results reveal that children with ASD had difficulty with both comprehending and using metaphorical language. The findings also indicate that TD children may employ diverse cognitive strategies or rely on different underlying skills when processing metaphors compared with children with ASD.

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17. Maeda T, Tanahashi Y, Asada H, Kidokoro H, Takahashi Y, Sato Y. High threshold of total developmental quotient at 3 years for follow-up in extremely preterm infants. Early Hum Dev;2024 (Sep);196:106098.

AIM: To investigate the relationship between the developmental quotient (DQ) at age 3 years and the need for educational support at school age in extremely preterm infants. METHODS: A total of 176 infants with a gestational age of <28 weeks were analyzed. The total DQ and subscales were evaluated using the Kyoto Scale of Psychological Development (KSPD) test. Neurodevelopment at age 3 years was stratified using total DQ in a conventional (DQ < 70 as developmental delay, DQ 70- <85 as subnormal, DQ ≥85 as normal) and a modified way (subdividing normal into DQ 85- <93 as low-normal and DQ ≥93 as high-normal). The prevalence of future educational support was compared for each stratum. Additionally, subscales were compared between those with and without educational support in each total DQ stratum. RESULTS: In conventional stratification, the prevalence of educational support was 32 (63 %) for developmental delay, 14 (24 %) for subnormal, and 10 (15 %) for normal. In modified stratification, the prevalence was 8 (26 %) for low-normal and 2 (5 %) for high-normal. While there was no significant difference in the odds of educational support between the normal and subnormal, the low-normal had significantly higher odds compared to the high-normal (OR 6.00; 95 % CI, 1.16-30.95, p = 0.03). Among the low-normal stratum, the language-social subscale was significantly lower in those with educational support. CONCLUSION: Setting high thresholds for total DQ and evaluating detailed subscales at age 3 years may be useful for developmental follow-up in extremely preterm infants.

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18. Maletz SN, Reid BT, Baekey DM, Whitaker-Fornek JR, Bateman JT, Arakawa K, Bissonnette JM, Levitt ES. Effect of positive allosteric modulation and orthosteric agonism of dopamine D2-like receptors on respiration in mouse models of Rett syndrome. Respir Physiol Neurobiol;2024 (Oct);328:104314.

Rett syndrome (RTT) is an autism spectrum disorder caused by loss-of-function mutations in the methyl-CPG-binding protein 2 (Mecp2) gene. Frequent apneas and irregular breathing are prevalent in RTT, and also occur in rodent models of the disorder, including Mecp2(Bird) and Mecp2(R168X) mice. Sarizotan, a serotonin 5-HT1a and dopamine D2-like receptor agonist, reduces the incidence of apneas and irregular breathing in mouse models of RTT (Abdala et al., 2014). Targeting the 5HT1a receptor alone also improves respiration in RTT mice (Levitt et al., 2013). However, the contribution of D2-like receptors in correcting these respiratory disturbances remains untested. PAOPA, a dopamine D2-like receptor positive allosteric modulator, and quinpirole, a dopamine D2-like receptor orthosteric agonist, were used in conjunction with whole-body plethysmography to evaluate whether activation of D2-like receptors is sufficient to improve breathing disturbances in female heterozygous Mecp2(Bird/+) and Mecp2(R168X/+) mice. PAOPA did not significantly change apnea incidence or irregularity score in RTT mice. PAOPA also had no effect on the ventilatory response to hypercapnia (7 % CO(2)). In contrast, quinpirole reduced apnea incidence and irregularity scores and improved the hypercapnic ventilatory response in Mecp2(R168X/+) and Mecp2(Bird/+) mice, while also reducing respiratory rate. These results suggest that D2-like receptors could contribute to the positive effects of sarizotan in the correction of respiratory abnormalities in Rett syndrome. However, positive allosteric modulation of D2-like receptors alone was not sufficient to evoke these effects.

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19. Nimbley E, Maloney E, Buchan K, Sader M, Gillespie-Smith K, Duffy F. Barriers and facilitators to ethical co-production with Autistic people with an eating disorder. J Eat Disord;2024 (Aug 9);12(1):113.

BACKGROUND: Co-production is the collaboration between researchers and the lived experience community in designing, conducting and sharing research. The importance of co-production is increasingly advocated in both the autism and eating disorder fields. Despite this, there remains a lack of clarity at how to define, apply and conduct ethical co-production. Understanding common challenges and what we can do to overcome these challenges are integral to ensuring ethical and meaningful research with Autistic people with an eating disorder. The current study therefore explored: What are the barriers and facilitators to ethical co-production with Autistic people with an ED? METHODS: Five workshops were conducted with 30 collaborators exploring barriers and facilitators to ethical co-production. Synchronous (online workshops) and asynchronous (offline discussion forum) data was analysed using thematic analysis. Themes were co-produced by a neurotypical and Autistic researcher with lived/living experience of an eating disorder. RESULTS: Four themes were identified that explored barriers to ethical co-production: unequal partnerships, the inaccessibility of research, excluded by diagnoses and communication differences. Three themes were identified with regards to facilitators of ethical co-production: shared power (with sub-themes relationships, not roles and creative compensation), clarity and transparency and autism-affirming approaches. DISCUSSION: Conducting ethical co-production with Autistic people with eating disorders has the potential to generate meaningful research that can be translated into improving the lives of the Autistic and eating disorder community. To achieve this, co-production teams should strive towards shared power and long-term relationships, adapting for communication differences and preferences and operating firmly within an autism-affirming framework. It is hoped that study findings will inspire collaboration, discussion and novel, translatable research. Co-production is the collaboration between researchers and the lived experience community in designing, conducting and sharing research. This study brought together Autistic people with lived/living experience of an eating disorder (ED), researchers, clinicians, third sector organisations and parents/carers to understand what the barriers (challenges) and facilitators (how to overcome these challenges) were to ethical co-production with Autistic people with an eating disorder. Common barriers were found to be unequal partnerships, difficulty accessing research, feeling or being excluded by a reliance on diagnoses and the impact of communication differences. Facilitators were felt to be a shared power dynamic, focusing on establishing relationships not just tokenistic roles and creating fair and person-centred compensation. Facilitators were also adapting for communication differences and moving away from harmful medicalised and ableists models, towards autism-affirming practice. It is hoped that the study will encourage discussion and positive co-production relationships between autism and ED researchers and the Autistic and ED community. It is also hoped that that this approach will lead to more meaningful research that will ultimately improve the lives of Autistic people with an ED. eng

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20. O’Nions E, Brown J, Buckman JEJ, Charlton R, Cooper C, El Baou C, Happé F, Hoare S, Lewer D, Manthorpe J, McKechnie DGJ, Richards M, Saunders R, Mandy W, Stott J. Diagnosis of common health conditions among autistic adults in the UK: evidence from a matched cohort study. Lancet Reg Health Eur;2024 (Jun);41:100907.

BACKGROUND: Autistic people are disproportionately likely to experience premature mortality and most mental and physical health conditions. We measured the incidence of diagnosed conditions accounting for the most disability-adjusted life years in the UK population according to the Global Burden of Disease study (anxiety, depression, self-harm, harmful alcohol use, substance use, migraine, neck or back pain, and gynaecological conditions). METHODS: Participants were aged 18 years or above and had an autism diagnosis recorded in the IQVIA Medical Research Database between 01/01/2000 and 16/01/2019. We included 15,675 autistic adults without intellectual disability, 6437 autistic adults with intellectual disability, and a comparison group matched (1:10) by age, sex, and primary care practice. We estimated crude incidences and incidence rate ratios (IRRs) adjusted for age and sex. FINDINGS: Autistic adults without intellectual disability experienced a higher incidence (IRR, 95% CI) of self-harm (2.07, 1.79-2.40), anxiety (1.91, 1.76-2.06), depressive disorders (1.79, 1.67-1.92), and substance use (1.24, 1.02-1.51) relative to comparison participants. Incidences of harmful alcohol use (1.01, 0.85-1.18), migraine (0.99, 0.84-1.17), and gynaecological conditions (1.19, 0.95-1.49) did not differ. Neck or back pain incidence was lower (0.88, 0.82-0.95). Autistic adults with intellectual disability experienced a higher incidence of self-harm (2.08, 1.69-2.56). Incidences of anxiety (1.14, 1.00-1.30), gynaecological conditions (1.22, 0.93-1.62), and substance use (1.08, 0.80-1.47) did not differ, and lower incidences were found for depressive disorders (0.73, 0.64-0.83), harmful alcohol use (0.65, 0.50-0.84), migraine (0.55, 0.42-0.74), and neck or back pain (0.49, 0.44-0.55). INTERPRETATION: Although our findings cannot be directly compared to previous prevalence studies, they contrast with the higher frequency of mental and physical health conditions in autistic adults reported in studies that directly assessed and/or surveyed autistic people about co-occurring conditions. The present findings may suggest under-diagnosis of common conditions in autistic people, particularly those with intellectual disability. Improved detection should be a clinical and policy priority to reduce health inequalities. FUNDING: Dunhill Medical Trust, Economic and Social Research Council, National Institute of Health and Care Research.

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21. Østergaard FG, Penninx B, Das N, Arango C, van der Wee N, Winter-van Rossum I, Luis Ayuso-Mateos J, G RD, Marston H, Kas MJH. The aperiodic exponent of neural activity varies with vigilance state in mice and men. PLoS One;2024;19(8):e0301406.

Recently the 1/f signal of human electroencephalography has attracted attention, as it could potentially reveal a quantitative measure of neural excitation and inhibition in the brain, that may be relevant in a clinical setting. The purpose of this short article is to show that the 1/f signal depends on the vigilance state of the brain in both humans and mice. Therefore, proper labelling of the EEG signal is important as improper labelling may obscure disease-related changes in the 1/f signal. We demonstrate this by comparing EEG results from a longitudinal study in a genetic mouse model for synaptic dysfunction in schizophrenia and autism spectrum disorders to results from a large European cohort study with schizophrenia and mild Alzheimer’s disease patients. The comparison shows when the 1/f is corrected for vigilance state there is a difference between groups, and this effect disappears when vigilance state is not corrected for. In conclusion, more attention should be paid to the vigilance state during analysis of EEG signals regardless of the species.

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22. Pozzi CM, Riesgo RDS, Assumpção Junior FB. Revisiting the history of autism before Kanner and Asperger: a tribute to Grunya Sukhareva. Arq Neuropsiquiatr;2024 (Aug);82(8):1-3.

Almost two decades before Kanner’s and Asperger’s works, the original paper by child psychiatrist Grunya Efimovna Sukhareva had already been written. It was published in 1926 by Sukhareva in a German scientific journal of psychiatry and neurology, with a detailed description of children who presented clinical conditions whose characteristics and evolution closely resemble autism, according to current criteria. In the present historical note, we intend to present Sukhareva’s pioneering work and retrieve the meaning of her original contribution.

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23. Saavedra-Bonilla H, Varman DR, Reyes-Haro D. Spontaneous Calcium Transients Recorded from Striatal Astrocytes in a Preclinical Model of Autism. Neurochem Res;2024 (Aug 9)

Autism spectrum disorder (ASD) is known as a group of neurodevelopmental conditions including stereotyped and repetitive behaviors, besides social and sensorimotor deficits. Anatomical and functional evidence indicates atypical maturation of the striatum. Astrocytes regulate the maturation and plasticity of synaptic circuits, and impaired calcium signaling is associated with repetitive behaviors and atypical social interaction. Spontaneous calcium transients (SCT) recorded in the striatal astrocytes of the rat were investigated in the preclinical model of ASD by prenatal exposure to valproic acid (VPA). Our results showed sensorimotor delay, augmented glial fibrillary acidic protein -a typical intermediate filament protein expressed by astrocytes- and diminished expression of GABA(A)-ρ3 through development, and increased frequency of SCT with a reduced latency that resulted in a diminished amplitude in the VPA model. The convulsant picrotoxin, a GABA(A) (γ-aminobutyric acid type A) receptor antagonist, reduced the frequency of SCT in both experimental groups but rescued this parameter to control levels in the preclinical ASD model. The amplitude and latency of SCT were decreased by picrotoxin in both experimental groups. Nipecotic acid, a GABA uptake inhibitor, reduced the mean amplitude only for the control group. Nevertheless, nipecotic acid increased the frequency but diminished the latency in both experimental groups. Thus, we conclude that striatal astrocytes exhibit SCT modulated by GABA(A)-mediated signaling, and prenatal exposure to VPA disturbs this tuning.

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24. Sgadò P, Pross A, Lamanna J, Adiletta A. Face processing in animal models: implications for autism spectrum disorder. Front Neurosci;2024;18:1462272.

Processing facial features is crucial to identify social partners (prey, predators, or conspecifics) and recognize and accurately interpret emotional expressions. Numerous studies in both human and non-human primates provided evidence promoting the notion of inherent mechanisms for detecting facial features. These mechanisms support a representation of faces independent of prior experiences and are vital for subsequent development in social and language domains. Moreover, deficits in processing faces are a reliable biomarker of autism spectrum disorder, appearing early and correlating with symptom severity. Face processing, however, is not only a prerogative of humans: other species also show remarkable face detection abilities. In this review, we present an overview of the current literature on face detection in vertebrate models that could be relevant to the study of autism.

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25. Sobieski M, Kopszak A, Wrona S, Bujnowska-Fedak MM. Screening accuracy and cut-offs of the Polish version of Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist. PLoS One;2024;19(8):e0299618.

BACKGROUND: The first stage of diagnosing autism spectrum disorders usually involves population screening to detect children at risk. This study aims to assess the predictive convergent validity of the Polish version of the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC) with the Autism Spectrum Rating Scales (ASRS), evaluate its sensitivity and specificity and assess the cut-off points for the possibility of using this questionnaire in population screening among children aged 6 to 24 months. METHOD: The study was conducted among 602 children from the general population who had previously participated in the earlier phase of validation of the questionnaire for Polish conditions. The collected data were statistically processed to calculate the accuracy (i.e. sensitivity, specificity) of the questionnaire. RESULTS: In individual age groups, the sensitivity of the questionnaire varies from 0.667 to 0.750, specificity from 0.854 to 0.939, positive predictive value from 0.261 to 0.4 and negative predictive value-from 0.979 to 0.981. Screening accuracy ranges from 0.847 to 0.923 depending on the age group. The adopted cut-off points are 21 points for children aged 9-12 months, 36 for children aged 13-18 months, 39 for children aged 19-24 months. Cut-off points could not be established for children aged 6-8 months. The convergent validity values with the ASRS ranged from -0.28 to -0.431 and were highest in the group of the oldest children. CONCLUSIONS: These results indicate that the Polish version of the CSBS-DP ITC can be used as an effective tool for ASD universal screening.

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26. Steinberg H, Garfield T, Roux A, Shea L, Shattuck P. Same Transition, Different Perspectives: Comparing Dyadic Interviews with Autistic Young Adults and Parents. Autism Adulthood;2024 (Jun);6(2):152-161.

INTRODUCTION: The transition to young adulthood can be a turbulent life stage, and this is often magnified for autistic youth. Young adults frequently profess different goals and values than their parents. While there is some indication in autism research about how parents, and to a lesser extent, autistic young adults, feel about this transition, little research leverages dyadic interviews with both populations or has used this method with Black and/or low-income families. METHOD: We conducted four sets of dyadic interviews with autistic young adults and their parents who live together. RESULTS: We identified three key themes that both groups found important to the transition: independence, structured transition, and interpersonal relationships. However, we found that how the groups conceptualized these themes were divergent and revealed differences in goals and values. Parents were more oriented toward long-term normative views of fulfillment, whereas young adults spoke about what was meaningful to them currently. CONCLUSION: This work has implications for changes to how autism research will conceptualize the transition to young adulthood and how we can create better social opportunities for this population. COMMUNITY BRIEF: Why is this an important issue?: Autistic adults are at risk for difficulties getting work and education, which can lead to them feeling alienated or unfulfilled. Most research on autistic people becoming adults is based on White people with more cultural and financial resources and does not ask autistic people themselves or their families with them. Research is needed to improve transition outcomes for these underresearched and underserved groups.What was the purpose of this study?: This study explored how autistic youth and their parents thought about and experienced the transition to adulthood out of an urban, low-resourced school district.What did the researchers do?: Researchers interviewed four parents and four autistic youth. Three families were Black, and one family was White and from a low-income household. All autistic youth had received special education services, needed support to transition to adulthood, and had finished high school 1 to 6 years before the study. The young adults lived with their mothers and received support from them for daily tasks. We interviewed the parents and then the youth. In some cases, youths joined parents’ interviews or parents joined youths’ interviews to provide help with remembering information or giving answers.What were the results of the study?: Researchers identified three themes. First, parents and youth thought about independence differently. Parents focused more on work and financial independence. Youth focused more on social aspects of work and having independence in daily activities such as shopping. The second theme was that youth and parents approached ongoing structured supports differently. Youth reported positive experiences with a range of services but did not discuss the need for ongoing supports like their parents did. Third, youth emphasized the importance of social relationships and opportunities to connect with peers through shared interests.What do these findings add to what was already known?: We learned that standard questions about transition may not reflect how autistic youth and their parents think about becoming an adult. Interviewing families coming out of a predominantly Black and low-income urban school district helped us to understand how these groups experience and think about the transition to adulthood, even though they did not use these identities as a logic for how they thought about young adulthood. This suggests that parent and youth perspectives differ in groups that are not usually well represented in research studies related to transition for autistic youth.What are potential weaknesses in the study?: This study only included a small number of youth and parents. These results do not represent all Black autistic youth or low-income autistic youth coming from urban school districts. Families who are less connected to services may have been less likely to hear about or take part in the study.How will these findings help autistic adults now or in the future?: These findings could inform the development of better interviewing approaches and research to address the needs of diverse autistic youth entering adulthood. This work could improve transition support. Parents, youth, support providers, and researchers may think about adulthood differently. Improved support could help build mutual understanding and coordination around youths’ and their families’ goals.

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27. Zack DS, Carroll B, Magallanes A, Bordes Edgar V. Take a Closer Look: Considerations for Autism Spectrum Disorder Assessment in Female Children and Adolescents. J Pediatr Health Care;2024 (Aug 9)

Assessment for autism spectrum disorder (ASD) in the pediatric female population entails unique diagnostic complexities. Females are often misdiagnosed, undiagnosed, or receive an ASD diagnosis at a later age than males. Male bias in ASD, masking behaviors, cultural norms, and overlapping neurodevelopmental comorbidities (such as attention deficit/hyperactivity disorder and intellectual disability) contribute to this phenomenon. The authors present two clinical cases evaluated in an interdisciplinary developmental behavioral pediatrics (DBP) team to highlight these considerations. Cases describe adolescent and school aged females with medical complexity who did not initially appear to have ASD symptoms but later were diagnosed with ASD. Patient anonymity is preserved. Best practice recommendations are discussed. Shared decision making, intentional history taking, thorough observation of behavior and restrictive/repetitive/sensory interests in multiple settings, and attention to social communication in the context of cognitive capacity are essential for ASD assessment in pediatric females.

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