1. Agnew Z, Callaway L, Lalor A, Peart A, Bould E. ‘Having the dog as part of our family gives us hope’: Experiences of the impact of assistance dogs on the occupational engagement of children with autism and their families. Australian occupational therapy journal. 2023.

BACKGROUND: Autism is a developmental disorder characterised by changes in social, communication, and behavioural performance. Assistance dogs can support children with autism to engage in everyday occupations. Despite more children being partnered with assistance dogs, there is limited research regarding the impact of assistance dogs on the occupational engagement of children with autism and their families, and further research is needed to fully understand the impact of this type of support within the Australian context. OBJECTIVES: To explore caregiver-reported experiences of an assistance dog on the occupational engagement of children with autism and their families. METHOD: Using a qualitative approach, semi-structured interviews were undertaken with six caregivers of seven children with autism, who each had an assistance dog. Interviews ranged from 45 to 60 minutes in duration. Data were transcribed verbatim and thematically analysed. Trustworthiness was maximised through independent recruitment, research team discussions, member checking, and a researcher reflective journal. FINDINGS: Three themes were identified: participation in everyday occupations prior to and after partnering with an assistance dog, increased engagement in everyday occupations, and impact of the assistance dog on the family unit. Assistance dogs were reported to progress children from community ‘isolation’ to ‘freedom’. Participants reported the dog increased children’s capacities through positively influencing completion of routines, increasing independence, and improving therapy engagement. Assistance dogs were viewed as supporting the whole family’s occupational engagement. Some challenges were identified with the introduction of the assistance dog to the family unit, and with animal maintenance costs and time demands, public access rights, and limited government funding. CONCLUSION: This research identifies benefits and challenges for children who partner with autism assistance dogs. It provides insights to inform assistance animal referral, assessment, and support of assistance dogs in Australia for children with autism and occupational therapists working with them.

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2. Al Saad AJ, Ghadeer Alhassan M, Saleh M, Fathi Alqattan F, Aleisa FA, Abdulmohsen HW. Correction to: Acceptance of COVID-19 vaccination among parents of children with autism and other neurodevelopmental disorders in Saudi Arabia: a cross-sectional study. BMC public health. 2023; 23(1): 1847.

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3. Alibrandi A, Zirilli A, Loschiavo F, Gangemi MC, Sindoni A, Tribulato G, Lo Giudice R, Famà F. Food Selectivity in Children with Autism Spectrum Disorder: A Statistical Analysis in Southern Italy. Children (Basel, Switzerland). 2023; 10(9).

This paper focuses on autism spectrum disorder (ASD) and food selectivity, both of which are prevalent in the pediatric population. In this context, the authors paid attention to food selectivity and its possible correlation with the atypicality of sensory processes, outlining the useful rehabilitation treatments to draw on. This research included the parents or caregivers of pediatric patients diagnosed with autism spectrum disorder and placed within a therapeutic clinic. The sample is composed of 111 children, males and females, aged between 2 and 10 years, and includes 60 children diagnosed with autism and 51 children with normotypical development, similar in characteristics but without the disorder. The standardized questionnaire, « Brief Autism Mealtime Behavior Inventory », was developed to examine behavior during meals, especially in children with ASD. The « Brief Sensory Profile », and the « Child Oral and Motor Proficiency Scale », were also administered. The results obtained from the analysis lead to evidence of eating and food selectivity difficulty. Additionally, our study demonstrates that food selectivity can be caused by extreme sensory modulation and sensory problems related to the smell, texture, color, and temperature of food. In fact, the results obtained emphasize the correlation between food selectivity and the sensory domains of taste and smell. Furthermore, this research highlights a correlation between motor skills and eating skills, particularly regarding food selectivity, which is closely associated with atypical and disruptive behaviors during meals.

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4. Alvarez A, Bote V, Lamborena C, Medina R, Serra LA, Hervas A, Arranz MJ. Review of pharmacogenomics of psychiatric comorbidities in autism spectrum disorder. Pharmacogenomics. 2023.

Approximately 70% of individuals diagnosed with autism spectrum disorder (ASD) receive at least one psychotropic medication to treat comorbidities. However, the response to treatment with these drugs is far from satisfactory, with 30-50% of treated patients not responding adequately or developing severe and long-lasting side effects. There is strong evidence of the clinical utility of pharmacogenetics for the personalization of antipsychotic and antidepressant treatments in adult populations. However, the use of pharmacogenetic interventions for the personalization of treatment in ASD populations is minimal. The aim of this review is to summarize the findings of pharmacogenetic studies conducted in subjects with ASD and illustrate their utility in the personalization of treatment with psychoactive drugs in this population group.

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5. Anastasescu CM, Gheorman V, Popescu F, Stoicănescu EC, Gheorman V, Riza AL, Badea O, Streață I, Militaru F, Udriștoiu I. Serum Amino Acid Profiling in Children with Autistic Spectrum Disorder: Insights from a Single-Center Study in Southern Romania. Healthcare (Basel, Switzerland). 2023; 11(18).

The objective of this study was to analyze the serum amino acid profile in children diagnosed with autistic spectrum disorder (ASD) in southern Romania. The analysis aimed to provide insights into the underlying metabolic dysregulations associated with ASD. ASD is a neurodevelopmental disorder characterized by impaired social interaction, communication deficits, and restricted repetitive behaviors. Although the exact cause of ASD is largely unknown, recent evidence suggests that abnormalities in amino acid metabolism may contribute to its pathogenesis. Therefore, studying the amino acid profile in children with ASD could offer valuable information for understanding the metabolic disturbances associated with this complex disorder. This single-center study examined serum samples from children diagnosed with ASD, utilizing advanced analytical techniques to quantify the levels of different amino acids, amino acid derivatives, and amino acid-like substances. The results showed a lower level of taurine and a higher level of asparagine and leucine in the ASD group versus the control group. In the ASD group, we observed significant differences in tryptophan and alpha-aminobutyric acid levels based on age, with higher tryptophan levels in children older than 7 years when compared to children younger than 7 years; however, no significant correlations were found with the ASD group older than 7 years old. Additionally, younger children with ASD exhibited higher levels of alpha-aminobutyric acid than older children with ASD. The findings from this study contribute to the growing body of knowledge on the metabolic aspects of ASD, highlighting potential biomarkers and therapeutic targets for improving the management and treatment of ASD in children.

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6. Arutiunian V, Arcara G, Buyanova I, Buivolova O, Davydova E, Pereverzeva D, Sorokin A, Tyushkevich S, Mamokhina U, Danilina K, Dragoy O. Event-Related Desynchronization of MEG Alpha-Band Oscillations during Simultaneous Presentation of Audio and Visual Stimuli in Children with Autism Spectrum Disorder. Brain sciences. 2023; 13(9).

Alpha-band (8-12 Hz) event-related desynchronization (ERD) or a decrease in alpha power in electro- and magnetoencephalography (EEG and MEG) reflects the involvement of a neural tissue in information processing. It is known that most children with autism spectrum disorder (ASD) have difficulties in information processing, and, thus, investigation of alpha oscillations is of particular interest in this population. Previous studies have demonstrated alterations in this neural activity in individuals with ASD; however, little is known about alpha ERD during simultaneous presentation of auditory and visual stimuli in children with and without ASD. As alpha oscillations are intimately related to attention, and attention deficit is one of the common co-occurring conditions of ASD, we predict that children with ASD can have altered alpha ERD in one of the sensory domains. In the present study, we used MEG to investigate alpha ERD in groups of 20 children with ASD and 20 age-matched typically developing controls. Simple amplitude-modulated tones were presented together with a fixation cross appearing on the screen. The results showed that children with ASD had a bilateral reduction in alpha-band ERD in the auditory but not visual cortex. Moreover, alterations in the auditory cortex were associated with a higher presence of autistic traits measured in behavioral assessment.

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7. Awaji B, Senan EM, Olayah F, Alshari EA, Alsulami M, Abosaq HA, Alqahtani J, Janrao P. Hybrid Techniques of Facial Feature Image Analysis for Early Detection of Autism Spectrum Disorder Based on Combined CNN Features. Diagnostics (Basel, Switzerland). 2023; 13(18).

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by difficulties in social communication and repetitive behaviors. The exact causes of ASD remain elusive and likely involve a combination of genetic, environmental, and neurobiological factors. Doctors often face challenges in accurately identifying ASD early due to its complex and diverse presentation. Early detection and intervention are crucial for improving outcomes for individuals with ASD. Early diagnosis allows for timely access to appropriate interventions, leading to better social and communication skills development. Artificial intelligence techniques, particularly facial feature extraction using machine learning algorithms, display promise in aiding the early detection of ASD. By analyzing facial expressions and subtle cues, AI models identify patterns associated with ASD features. This study developed various hybrid systems to diagnose facial feature images for an ASD dataset by combining convolutional neural network (CNN) features. The first approach utilized pre-trained VGG16, ResNet101, and MobileNet models. The second approach employed a hybrid technique that combined CNN models (VGG16, ResNet101, and MobileNet) with XGBoost and RF algorithms. The third strategy involved diagnosing ASD using XGBoost and an RF based on features of VGG-16-ResNet101, ResNet101-MobileNet, and VGG16-MobileNet models. Notably, the hybrid RF algorithm that utilized features from the VGG16-MobileNet models demonstrated superior performance, reached an AUC of 99.25%, an accuracy of 98.8%, a precision of 98.9%, a sensitivity of 99%, and a specificity of 99.1%.

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8. Ben Hassen I, Abid R, Ben Waer F, Masmoudi L, Sahli S, Driss T, Hammouda O. Intervention Based on Psychomotor Rehabilitation in Children with Autism Spectrum Disorder ASD: Effect on Postural Control and Sensory Integration. Children (Basel, Switzerland). 2023; 10(9).

Postural stability and control are essential motor skills for successfully performing various activities of daily living. However, children with autism spectrum disorder (ASD) exhibit significant sensorimotor impairments. The aim of this study was to investigate the efficacy of psychomotricity training on postural control (PC) of children with ASD. We recruited thirty children (age = 8.01 ± 1.2; weight = 31.66 ± 8.1 kg; height = 129.7 ± 10.8 cm) diagnosed with ASD (intellectual quotient > 50) to participate in this study. They were divided into two groups: the experimental group (n = 16) and control group (n = 14). Children in the experimental group were trained with psychomotor activities two times a week for nine weeks. Statistic postural balance was assessed before and after intervention and on different vision conditions. The results showed that the psychomotor training significantly improved PC in standing position under different conditions when compared to the control group, in all parameters (CoP(A); CoP(LX); CoP(Ly)) (p < 0.01). Our preliminary findings suggest the usefulness of the psychomotor training in children with ASD on static PC.

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9. Berardi A, Galeoto G, Ruffini M, Simeon R, González-Bernal J, Seco-Calvo JA. Psychometric Properties of the Italian Version of the Toileting Habit Profile Questionnaire-Revised (THPQ-R) in Children with Autism Spectrum Disorder. Children (Basel, Switzerland). 2023; 10(9).

INTRODUCTION: Children with autism spectrum disorder (ASD) often seem not to feel the need to go to the bathroom in whatever context they are in and may suffer from hypo-responsiveness. Recent studies show a correlation between sensory problems, constipation, and fecal incontinence in children. This requires an assessment tool to identify evacuation issues in children with sensory dysfunction. Therefore, the purpose of this study is to validate the Italian version of The Toileting Habit Profile Questionnaire-Revised (THPQ-R) in children with ASD. METHODS: The inclusion criteria were a confirmed diagnosis of ASD and an age between 3 and 8 years old. The Toileting Habit Profile Questionnaire Revised (THPQ-R) was recently validated in the Italian language on a healthy population. The Italian version has 17 items with two alternative response options, frequently/always or never/rarely, based on how often the behavior occurs. The THPQ-R questionnaire is easy to administer, interpret, and manage. For concurrent validity, we used the Italian version of the Sensory Processing Measure and Sensory Processing Measure-Preschool. RESULTS: For the THPQ-R validation, 43 participants were recruited. The internal consistency, reporting an α value of 0.763, showed that the THPQ-R was a very reliable scale. The THPQ-R appears to be correlated only with the domains « Social Participation T-point », « Hearing T-point », and « Planning and Ideas T-point ». However, these correlations are not statistically significant. Conclusion: The THPQ-R highlights positive results regarding validity and reliability and shows a positive correlation between defecation disorders and social participation.

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10. Binder MS, Bordey A. Semi-natural housing rescues social behavior and reduces repetitive exploratory behavior of BTBR autistic-like mice. Scientific reports. 2023; 13(1): 16260.

Environmental enrichment confers numerous benefits when implemented in murine models and can reduce behavioral symptomatology in models of disease, such as autism spectrum disorder (ASD). However, previous work did not examine the impact of early-life environmental enrichment on each core feature of ASD. We thus implemented a social and physical enrichment at birth, modeling a semi-natural housing, and examined its impact on communicative, social, sensory, and repetitive behaviors using BTBR (autistic-like) and C57BL/6 J (B6, wildtype) mice, comparing them to standard housing conditions. We found that environmental enrichment alleviated the social deficit of juvenile BTBR mice and reduced their repetitive exploratory behavior but did not affect their rough versus smooth texture preference nor the number of maternal isolation-induced pup calls. Environmental enrichment only affected the call characteristics of B6 mice. One interpretation of these data is that early-life environmental enrichment has significant therapeutic potential to treat selective core features of ASD. Another interpretation is that reducing environmental complexity causes selective behavioral deficits in ASD-prone mice suggesting that current standard housing may be suboptimal. Overall, our data illustrate the extent to which the environment influences behavior and highlights the importance of considering housing conditions when designing experiments and interpreting behavioral results.

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11. Bolognesi E, Guerini FR, Carta A, Chiappedi M, Sotgiu S, Mensi MM, Agliardi C, Zanzottera M, Clerici M. The Role of SNAP-25 in Autism Spectrum Disorders Onset Patterns. International journal of molecular sciences. 2023; 24(18).

Autism spectrum disorders (ASD) can present with different onset and timing of symptom development; children may manifest symptoms early in their first year of life, i.e., early onset (EO-ASD), or may lose already achieved skills during their second year of life, thus showing a regressive-type onset (RO-ASD). It is still controversial whether regression represents a neurobiological subtype of ASD, resulting from distinct genetic and environmental causes. We focused this study on the 25 kD synaptosomal-associated protein (SNAP-25) gene involved in both post-synaptic formation and adhesion and considered a key player in the pathogenesis of ASD. To this end, four single nucleotide polymorphisms (SNPs) of the SNAP-25 gene, rs363050, rs363039, rs363043, and rs1051312, already known to be involved in neurodevelopmental and psychiatric disorders, were analyzed in a cohort of 69 children with EO-ASD and 58 children with RO-ASD. Both the rs363039 G allele and GG genotype were significantly more frequently carried by patients with EO-ASD than those with RO-ASD and healthy controls (HC). On the contrary, the rs1051312 T allele and TT genotype were more frequent in individuals with RO-ASD than those with EO-ASD and HC. Thus, two different SNAP-25 alleles/genotypes seem to discriminate between EO-ASD and RO-ASD. Notably, rs1051312 is located in the 3′ untranslated region (UTR) of the gene and is the target of microRNA (miRNA) regulation, suggesting a possible epigenetic role in the onset of regressive autism. These SNPs, by discriminating two different onset patterns, may represent diagnostic biomarkers of ASD and may provide insight into the different biological mechanisms towards the development of better tailored therapeutic and rehabilitative approaches.

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12. Cao G, Sun C, Shen H, Qu D, Shen C, Lu H. Conditional Deletion of Foxg1 Delayed Myelination during Early Postnatal Brain Development. International journal of molecular sciences. 2023; 24(18).

FOXG1 (forkhead box G1) syndrome is a neurodevelopmental disorder caused by variants in the Foxg1 gene that affect brain structure and function. Individuals affected by FOXG1 syndrome frequently exhibit delayed myelination in neuroimaging studies, which may impair the rapid conduction of nerve impulses. To date, the specific effects of FOXG1 on oligodendrocyte lineage progression and myelination during early postnatal development remain unclear. Here, we investigated the effects of Foxg1 deficiency on myelin development in the mouse brain by conditional deletion of Foxg1 in neural progenitors using NestinCreER;Foxg1(fl/fl) mice and tamoxifen induction at postnatal day 0 (P0). We found that Foxg1 deficiency resulted in a transient delay in myelination, evidenced by decreased myelin formation within the first two weeks after birth, but ultimately recovered to the control levels by P30. We also found that Foxg1 deletion prevented the timely attenuation of platelet-derived growth factor receptor alpha (PDGFRα) signaling and reduced the cell cycle exit of oligodendrocyte precursor cells (OPCs), leading to their excessive proliferation and delayed maturation. Additionally, Foxg1 deletion increased the expression of Hes5, a myelin formation inhibitor, as well as Olig2 and Sox10, two promoters of OPC differentiation. Our results reveal the important role of Foxg1 in myelin development and provide new clues for further exploring the pathological mechanisms of FOXG1 syndrome.

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13. Ćirović M, Jeličić L, Maksimović S, Fatić S, Marisavljević M, Bošković Matić T, Subotić M. EEG Correlates of Cognitive Functions in a Child with ASD and White Matter Signal Abnormalities: A Case Report with Two-and-a-Half-Year Follow-Up. Diagnostics (Basel, Switzerland). 2023; 13(18).

This research aimed to examine the EEG correlates of different stimuli processing instances in a child with ASD and white matter signal abnormalities and to investigate their relationship to the results of behavioral tests. The prospective case study reports two and a half years of follow-up data from a child aged 38 to 66 months. Cognitive, speech-language, sensory, and EEG correlates of auditory-verbal and auditory-visual-verbal information processing were recorded during five test periods, and their mutual interrelation was analyzed. EEG findings revealed no functional theta frequency range redistribution in the frontal regions favoring the left hemisphere during speech processing. The results pointed to a positive linear trend in the relative theta frequency range and a negative linear trend in the relative alpha frequency range when listening to and watching the cartoon. There was a statistically significant correlation between EEG signals and behavioral test results. Based on the obtained results, it may be concluded that EEG signals and their association with the results of behavioral tests should be evaluated with certain restraints considering the characteristics of the stimuli during EEG recording.

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14. Daikoku T, Kumagaya S, Ayaya S, Nagai Y. Non-autistic persons modulate their speech rhythm while talking to autistic individuals. PloS one. 2023; 18(9): e0285591.

How non-autistic persons modulate their speech rhythm while talking to autistic (AUT) individuals remains unclear. We investigated two types of phonological characteristics: (1) the frequency power of each prosodic, syllabic, and phonetic rhythm and (2) the dynamic interaction among these rhythms using speech between AUT and neurotypical (NT) individuals. Eight adults diagnosed with AUT (all men; age range, 24-44 years) and eight age-matched non-autistic NT adults (three women, five men; age range, 23-45 years) participated in this study. Six NT and eight AUT respondents were asked by one of the two NT questioners (both men) to share their recent experiences on 12 topics. We included 87 samples of AUT-directed speech (from an NT questioner to an AUT respondent), 72 of NT-directed speech (from an NT questioner to an NT respondent), 74 of AUT speech (from an AUT respondent to an NT questioner), and 55 of NT speech (from an NT respondent to an NT questioner). We found similarities between AUT speech and AUT-directed speech, and between NT speech and NT-directed speech. Prosody and interactions between prosodic, syllabic, and phonetic rhythms were significantly weaker in AUT-directed and AUT speech than in NT-directed and NT speech, respectively. AUT speech showed weaker dynamic processing from higher to lower phonological bands (e.g. from prosody to syllable) than NT speech. Further, we found that the weaker the frequency power of prosody in NT and AUT respondents, the weaker the frequency power of prosody in NT questioners. This suggests that NT individuals spontaneously imitate speech rhythms of the NT and AUT interlocutor. Although the speech sample of questioners came from just two NT individuals, our findings may suggest the possibility that the phonological characteristics of a speaker influence those of the interlocutor.

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15. Fang X, Baggett LM, Caylor RC, Percy AK, Neul JL, Lane JB, Glaze DG, Benke TA, Marsh ED, Motil KJ, Barrish JO, Annese FE, Skinner SA. Parental age effects and Rett syndrome. American journal of medical genetics Part A. 2023.

Rett syndrome (RTT) is a progressive neurodevelopmental disorder, and pathogenic Methyl-CpG-binding Protein 2 (MECP2) variants are identified in >95% of individuals with typical RTT. Most of RTT-causing variants in MECP2 are de novo and usually on the paternally inherited X chromosome. While paternal age has been reported to be associated with increased risk of genetic disorders, it is unknown whether parental age contributes to the risk of the development of RTT. Clinical data including parental age, RTT diagnostic status, and clinical severity are collected from 1226 participants with RTT and confirmed MECP2 variants. Statistical analyses are performed using Student t-test, single factor analysis of variance (ANOVA), and multi-factor regression. No significant difference is observed in parental ages of RTT probands compared to that of the general population. A small increase in parental ages is observed in participants with missense variants compared to those with nonsense variants. When we evaluate the association between clinical severity and parental ages by multiple regression analysis, there is no clear association between clinical severity and parental ages. Advanced parental ages do not appear to be a risk factor for RTT, and do not contribute to the clinical severity in individuals with RTT.

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16. Gessara A, Patel MS, Estefan M, Koch JEJ, Gutman N, Mardashti A, Shetaiwi A, Quraishi NA. Restoration of the sagittal profile according to the Roussouly classification reduces mechanical complications and revision surgery in older patients undergoing surgery for adult spinal deformity (ASD). European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society. 2023.

PURPOSE: The mechanical complications related to ASD remain a concern due to their morbidity and associated revision surgery. Restoration of each patient’s Roussouly profile may reduce these. Our aim was to examine if the restoration of the Roussouly profile reduced these complications and revision rates in older patients operated for degenerative ASD. METHODS: Retrospective analysis of a single-centre, 2-year minimum follow-up patient database. All patients undergoing corrective surgery (≥ 4 levels) for ASD were included with analysis of demographic data, operative records, restoration of Roussouly sagittal profile, mechanical complications and revision rates. Univariate and multivariate analysis was conducted. RESULTS: Fifty-two patients were included (mean age was 72.3 years, average follow-up 56.3 months). Twenty-six patients had a « restored » profile (50%) and 26 an « unrestored » profile (50%). The incidence of mechanical complications was 7 (27%) and 23 (88%) for the restored and unrestored groups, respectively (p < 0.001). Revision rates were 4 (15.4%) and 18 (69.2%), respectively (p < 0.000), in the restored and unrestored profiles. Univariate analysis determined that profile restoration and BMI were associated with mechanical complications and revision surgery, whilst only the profile restoration status maintained its statistical power in multivariate analysis (p = 0.002 and p = 0.002, respectively). Age was not a significant factor in univariate analysis. The relative risk for mechanical failure and revision surgery was 5.6 times (CI 1.929-16.39) and 3.08 times (CI 1.642-5.734) greater if the profile was not restored. CONCLUSIONS: Achieving each patient's ideal Roussouly profile is associated with a reduced incidence of mechanical complications and revision rates in the older population after surgery for degenerative ASD.

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17. Gui J, Wang L, Han Z, Ding R, Yang X, Yang J, Luo H, Huang D, Liu J, Jiang L. Association between the Healthy Eating Index-2015 and Developmental Disabilities in Children: A Cross-Sectional Analysis. Brain sciences. 2023; 13(9).

Few studies have examined the association between dietary quality and the risk of developmental disabilities (DDs). This study aimed to investigate the association between dietary quality and the risk of DDs in US children aged 5 to 15. We employed data from the National Health and Nutrition Examination Survey (NHANES) 2003-2018. Multivariable logistic regression was used to evaluate the association between HEI-2015 score, HEI component score, and the likelihood of DDs. Restricted cubic splines (RCS) were utilized to investigate nonlinear links between HEI-2015 score and the likelihood of DDs. Interaction analysis was utilized to explore differences between subgroups. HEI-2015 score was negatively linked with the risk of DDs after adjusting covariates [odds ratio (OR) = 0.99; 95% confidence interval (CI) = (0.98, 1.00)]. HEI-2015 score was separated by quartile into Q1, Q2, Q3, and Q4. Q1 represents the lowest HEI scores, while Q4 represents the highest HEI scores. Children in the fourth quartile of the HEI-2015 exhibited a decreased prevalence of DDs compared to those in the first quartile [(OR = 0.69; 95% CI = (0.53, 0.89)]. The association between HEI-2015 score and the risk of DDs was modified by race/ethnicity. The higher HEI-2015 score was associated with a lower risk of DDs, suggesting that better dietary quality may reduce the risk of DDs in children.

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18. Islam A, Ronco A, Becker SM, Blackburn J, Schittny JC, Kim K, Stein-Wexler R, Wexler AS. Can lung airway geometry be used to predict autism? A preliminary machine learning-based study. Anatomical record (Hoboken, NJ : 2007). 2023.

The goal of this study is to assess the feasibility of airway geometry as a biomarker for autism spectrum disorder (ASD). Chest computed tomography images of children with a documented diagnosis of ASD as well as healthy controls were identified retrospectively. Fifty-four scans were obtained for analysis, including 31 ASD cases and 23 controls. A feature selection and classification procedure using principal component analysis and support vector machine achieved a peak cross validation accuracy of nearly 89% using a feature set of eight airway branching angles. Sensitivity was 94%, but specificity was only 78%. The results suggest a measurable difference in airway branching angles between children with ASD and the control population.

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19. Jiang M, Yan W, Li X, Zhao L, Lu T, Zhang D, Li J, Wang L. Calcium Homeostasis and Psychiatric Disorders: A Mendelian Randomization Study. Nutrients. 2023; 15(18).

Observational studies have investigated the impact of calcium homeostasis on psychiatric disorders; however, the causality of associations is yet to be established. Bidirectional Mendelian randomization (MR) analysis of calcium homeostasis hormones was conducted on nine psychiatric disorders. Calcium, serum 25-hydroxyvitamin D levels (25OHD), parathyroid hormone, and fibroblast growth factor 23 are the major calcium homeostasis hormones. The causality was evaluated by the inverse variance weighted method (IVW) and the MR Steiger test, while Cochran’s Q test, the MR-Egger intercept test, funnel plot, and the leave-one-out method were used for sensitivity analyses. Bonferroni correction was used to determine the causative association features (p < 6.94 × 10(-4)). Schizophrenia (SCZ) was significantly associated with decreased 25OHD concentrations with an estimated effect of -0.0164 (P(random-effect IVW) = 2.39 × 10(-7)). In the Multivariable MR (MVMR) analysis adjusting for potentially confounding traits including body mass index, obesity, mineral supplements (calcium, fish oil, and vitamin D) and outdoor time (winter and summer), the relationship between SCZ and 25OHD remained. The genetically predicted autism spectrum disorder and bipolar disorder were also nominally associated with decreased 25OHD. This study provided evidence for a causal effect of psychiatric disorders on calcium homeostasis. The clinical monitoring of 25OHD levels in patients with psychiatric disorders is beneficial.

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20. Kang J, Xie H, Mao W, Wu J, Li X, Geng X. EEG Connectivity Diversity Differences between Children with Autism and Typically Developing Children: A Comparative Study. Bioengineering (Basel, Switzerland). 2023; 10(9).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and communication, and repetitive or stereotyped behaviors. Previous studies have reported altered brain connectivity in ASD children compared to typically developing children. In this study, we investigated the diversity of connectivity patterns between children with ASD and typically developing children using phase lag entropy (PLE), a measure of the variability of phase differences between two time series. We also developed a novel wavelet-based PLE method for the calculation of PLE at specific scales. Our findings indicated that the diversity of connectivity in ASD children was higher than that in typically developing children at Delta and Alpha frequency bands, both within brain regions and across hemispheric brain regions. These findings provide insight into the underlying neural mechanisms of ASD and suggest that PLE may be a useful tool for investigating brain connectivity in ASD.

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21. Lamash L, Gal E, Yaar E, Bedell G. SPAN Website for Remote Intervention with Autistic Adolescents and Young Adults: Feasibility and Usability. Children (Basel, Switzerland). 2023; 10(9).

Adolescents and young adults (AYA) with autism spectrum disorders (ASD) report less functional independence and social participation than their neurotypical peers. Remotely delivered interventions may allow autistic AYA to promote their independence, social participation, and wellbeing as they transition to adulthood. Social Participation and Navigation (SPAN) is a technology-based remotely delivered intervention initially developed for AYA with acquired brain injuries. The SPAN (website, application, and intervention manual) was modified to address the needs of AYA with autism (SPAN-ASD). This study examined the SPAN-ASD website and web application’s feasibility and usability. Participants comprised 12 autistic AYA and 18 practitioners (all occupational therapists) with more than 1 year of experience in working with autistic AYA. All navigated the SPAN-ASD website and goal-management application. Practitioners completed the SPAN-ASD components and the Usefulness, Satisfaction, and Ease of Use questionnaires; AYA completed the System Usability Scale. The practitioners’ average feasibility scores ranged from 4.30 to 4.68 (high); the overall usability score was 5.77 (good). The autistic AYA rated SPAN-ASD as a good, acceptable, and useful tool. Content analysis and item-level ratings indicated some needed improvements. Practitioners and autistic AYA perceived the SPAN-ASD website and application as highly feasible and usable, with excellent potential for technology-supported interventions.

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22. Lawther AJ, Zieba J, Fang Z, Furlong TM, Conn I, Govindaraju H, Choong LLY, Turner N, Siddiqui KS, Bridge W, Merlin S, Hyams TC, Killingsworth M, Eapen V, Clarke RA, Walker AK. Antioxidant Behavioural Phenotype in the Immp2l Gene Knock-Out Mouse. Genes. 2023; 14(9).

Mitochondrial dysfunction is strongly associated with autism spectrum disorder (ASD) and the Inner mitochondrial membrane protein 2-like (IMMP2L) gene is linked to autism inheritance. However, the biological basis of this linkage is unknown notwithstanding independent reports of oxidative stress in association with both IMMP2L and ASD. To better understand IMMP2L’s association with behaviour, we developed the Immp2l(KD) knockout (KO) mouse model which is devoid of Immp2l peptidase activity. Immp2l(KD) -/- KO mice do not display any of the core behavioural symptoms of ASD, albeit homozygous Immp2l(KD) -/- KO mice do display increased auditory stimulus-driven instrumental behaviour and increased amphetamine-induced locomotion. Due to reports of increased ROS and oxidative stress phenotypes in an earlier truncated Immp2l mouse model resulting from an intragenic deletion within Immp2l, we tested whether high doses of the synthetic mitochondrial targeted antioxidant (MitoQ) could reverse or moderate the behavioural changes in Immp2l(KD) -/- KO mice. To our surprise, we observed that ROS levels were not increased but significantly lowered in our new Immp2l(KD) -/- KO mice and that these mice had no oxidative stress-associated phenotypes and were fully fertile with no age-related ataxia or neurodegeneration as ascertained using electron microscopy. Furthermore, the antioxidant MitoQ had no effect on the increased amphetamine-induced locomotion of these mice. Together, these findings indicate that the behavioural changes in Immp2l(KD) -/- KO mice are associated with an antioxidant-like phenotype with lowered and not increased levels of ROS and no oxidative stress-related phenotypes. This suggested that treatments with antioxidants are unlikely to be effective in treating behaviours directly resulting from the loss of Immp2l/IMMP2L activity, while any behavioural deficits that maybe associated with IMMP2L intragenic deletion-associated truncations have yet to be determined.

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23. Lee KY, Wang H, Yook Y, Rhodes JS, Christian-Hinman CA, Tsai NP. Tumor suppressor p53 modulates activity-dependent synapse strengthening, autism-like behavior and hippocampus-dependent learning. Molecular psychiatry. 2023.

Synaptic potentiation underlies various forms of behavior and depends on modulation by multiple activity-dependent transcription factors to coordinate the expression of genes necessary for sustaining synaptic transmission. Our current study identified the tumor suppressor p53 as a novel transcription factor involved in this process. We first revealed that p53 could be elevated upon chemically induced long-term potentiation (cLTP) in cultured primary neurons. By knocking down p53 in neurons, we further showed that p53 is required for cLTP-induced elevation of surface GluA1 and GluA2 subunits of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR). Because LTP is one of the principal plasticity mechanisms underlying behaviors, we employed forebrain-specific knockdown of p53 to evaluate the role of p53 in behavior. Our results showed that, while knocking down p53 in mice does not alter locomotion or anxiety-like behavior, it significantly promotes repetitive behavior and reduces sociability in mice of both sexes. In addition, knocking down p53 also impairs hippocampal LTP and hippocampus-dependent learning and memory. Most importantly, these learning-associated defects are more pronounced in male mice than in female mice, suggesting a sex-specific role of p53 in these behaviors. Using RNA sequencing (RNAseq) to identify p53-associated genes in the hippocampus, we showed that knocking down p53 up- or down-regulates multiple genes with known functions in synaptic plasticity and neurodevelopment. Altogether, our study suggests p53 as an activity-dependent transcription factor that mediates the surface expression of AMPAR, permits hippocampal synaptic plasticity, represses autism-like behavior, and promotes hippocampus-dependent learning and memory.

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24. Li L, Su YE, Hou W, Zhou M, Xie Y, Zou X, Li M. Expressive Language Profiles in a Clinical Screening Sample of Mandarin-Speaking Preschool Children With Autism Spectrum Disorder. Journal of speech, language, and hearing research : JSLHR. 2023: 1-22.

PURPOSE: This cross-sectional study aimed to depict expressive language profiles and clarify lexical-grammatical interrelationships in Mandarin-speaking preschoolers with autism spectrum disorder (ASD) during the administration of the simplified Chinese Psychoeducational Profile-Third Edition screening. METHOD: We collected naturalistic language samples from 81 (74 boys, seven girls) 2- to 7-year-old (M(age) = 55.6 months, SD = 15.17) Mandarin-speaking children with ASD in clinician-child interactions. The child participants were divided into five age subgroups with 12-month intervals according to their chronological age. Computer-assisted part-of-speech tagging, constituency analysis, and dependency analysis addressed the developmental trajectories of early lexical and grammatical growth in each age subgroup. RESULTS: Significant within-ASD differences were observed in content words, function words, and lexical categories. Nouns and verbs were the predominant lexical categories, while noun types overwhelmed verb types in children over 3 years old. The grammatical development of 5- to 6-year-old Mandarin-speaking children with ASD was better than that of 3- to 4-year-old children. The trends of syntactic structures, grammatical relations, and grammatical complexity in each age group were similar. CONCLUSIONS: Mandarin-speaking preschoolers with ASD produce more lexicons with increasing age. They preserve the noun bias as a universal mechanism in early lexical learning. Moreover, their developmental trajectories of grammatical growth were comparable in each age subgroup. In addition, their lexicons and grammar were synchronically developed during early language acquisition.

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25. Lian X, Hong WCH, Gao F, Kolletar-Zhu K, Wang J, Cai C, Yang F, Chen X, Wang Z, Gao H. The effect of background elements of pictures on the visual attention among ASD children with intellectual disabilities, children with intellectual disabilities and typical development: Evidence from eye-tracking and fMRI. Research in developmental disabilities. 2023; 141: 104602.

Traditional picture books for children come with colourful images and a multitude of elements to attract attention and increase the reading interest of typical-developing (TD) children. However, children with Autism Spectrum Disorder (ASD) are less capable of filtering out unimportant elements in pictures and focusing on social items (e.g., human faces). This study proposed that the removal of background and less important elements in the pictures of children’s storybooks could facilitate better attention and enhance children with ASD’s focus on the main object and thus the intended meaning of the storybook. We adopted pictures from a well-known children’s book and modified them by removing the inessential background elements. Then, ASD children with intellectual disabilities (ASD+ID) (n = 40), children with ID (n = 38) and TD (n = 40) were asked to view the original and modified pictures in an eye-tracking experiment, respectively. Additionally, brain activation of ASD+ID participants (n = 10) was recorded as they were viewing those pictures in an fMRI scan. Eye-tracking found that ASD+ID children viewed the modified pictures with significantly longer average fixations, fewer fixations, fewer saccades, and higher fixation/saccade duration ratio. Contrary to the original pictures, no significant differences were found among ASD+ID, ID only and TD. Especially, ASD+ID group showed highly similar visual patterns to the TD participants when viewing the modified pictures and particularly focusing on the main character in the pictures. Additional fMRI evidence on ASD+ID group also revealed that modified pictures were associated with enhanced activation in bilateral fusiform gyri as compared to those from original pictures, which might suggest increased visual attention. Theoretical and practical implications were discussed in light of our findings.

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26. Mondal A, Sharma R, Abiha U, Ahmad F, Karan A, Jayaraj RL, Sundar V. A Spectrum of Solutions: Unveiling Non-Pharmacological Approaches to Manage Autism Spectrum Disorder. Medicina (Kaunas, Lithuania). 2023; 59(9).

Autism spectrum disorder (ASD) is a developmental disorder that causes difficulty while socializing and communicating and the performance of stereotyped behavior. ASD is thought to have a variety of causes when accompanied by genetic disorders and environmental variables together, resulting in abnormalities in the brain. A steep rise in ASD has been seen regardless of the numerous behavioral and pharmaceutical therapeutic techniques. Therefore, using complementary and alternative therapies to treat autism could be very significant. Thus, this review is completely focused on non-pharmacological therapeutic interventions which include different diets, supplements, antioxidants, hormones, vitamins and minerals to manage ASD. Additionally, we also focus on complementary and alternative medicine (CAM) therapies, herbal remedies, camel milk and cannabiodiol. Additionally, we concentrate on how palatable phytonutrients provide a fresh glimmer of hope in this situation. Moreover, in addition to phytochemicals/nutraceuticals, it also focuses on various microbiomes, i.e., gut, oral, and vaginal. Therefore, the current comprehensive review opens a new avenue for managing autistic patients through non-pharmacological intervention.

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27. Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D’Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review. Genes. 2023; 14(9).

Snijders Blok-Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients with SNIBCPS include global developmental delay, intellectual disability, speech and language difficulties and behavioral disorders like autism spectrum disorder. In addition, patients with SNIBCPS exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehead, prominent nose and pointed chin. The severity of the neurological effects as well as the presence of other features is variable among subjects. SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to be involved in chromatin remodeling by deacetylating histones. Here, we report 20 additional patients with clinical features compatible with SNIBCPS from 17 unrelated families with confirmed likely pathogenic/pathogenic variants in CHD3. Patients were analyzed by whole exome sequencing and segregation studies were performed by Sanger sequencing. Patients in this study showed different pathogenic variants affecting several functional domains of the protein. Additionally, none of the variants described here were reported in control population databases, and most computational predictors suggest that they are deleterious. The most common clinical features of the whole cohort of patients are global developmental delay (98%) and speech disorder/delay (92%). Other frequent features (51-74%) include intellectual disability, hypotonia, hypertelorism, abnormality of vision, macrocephaly and prominent forehead, among others. This study expands the number of individuals with confirmed SNIBCPS due to pathogenic or likely pathogenic variants in CHD3. Furthermore, we add evidence of the importance of the application of massive parallel sequencing for NDD patients for whom the clinical diagnosis might be challenging and where deep phenotyping is extremely useful to accurately manage and follow up the patients.

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28. Reis RC, Souza INB, Dias MCR, Mendes CMM, Almeida KJ. Association of Parental Support with Reduced Stereotypy in Children with Autism Spectrum Disorder: A Cross-Sectional Study. Medicina (Kaunas, Lithuania). 2023; 59(9).

Background and Objectives: To analyze the influence of parental presence and use of risperidone on social interaction and apathy among patients with Autism Spectrum Disorder (ASD). Materials and Methods: Cross-sectional study in a reference center for patients with ASD in a city in northeastern Brazil. The research was carried out using a sociodemographic questionnaire, the Dimensional Apathy Scale, and the Social Communication Questionnaire (SCQ) with the domains of social interaction, language, stereotypy, and communication. The referred questionnaire was answered by the parents or guardians of the children with ASD according to the DSM V criteria. Data were analyzed via independent t-test using the SPSS software version 20. Results: Interviews were conducted with 51 parents/guardians of autistic children with a mean age of 8.8 years (±2.95) and a predominance of males, 34 (66.7%). Of this total, 49 (96.1%) of the children attended school; 40 (78.4%) children were on medication, of which 38 (74.5%) were on risperidone. Those children on risperidone had a higher score on the SCQ scale (p = 0.049) and on the domain of stereotyped behaviors (p = 0.033), which indicated greater impairment. Another statistically relevant variable was the presence of married parents, whereby children who did not have the presence of married parents had a higher average of stereotyped behaviors compared to those who had married parents. Conclusions: The results showed differences in the means of social interactions for children on risperidone, especially regarding stereotyped behaviors. However, it is not possible to state whether this difference was due to the use of risperidone or whether they used risperidone precisely because of these behaviors. Also important was that children who had the presence of married parents showed fewer stereotyped behaviors. There was no difference in apathetic behavior between children.

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29. Santos FH, Sood P, Gan DRY, Lansang N, Devos H, Heyn PC. Physical Activity for Persons with Intellectual and Developmental Disabilities: A Support Guide for Health Care Professionals. Archives of physical medicine and rehabilitation. 2023.

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30. Shao L, Fu C, Chen X. A heterogeneous graph convolutional attention network method for classification of autism spectrum disorder. BMC bioinformatics. 2023; 24(1): 363.

BACKGROUND: Autism spectrum disorder (ASD) is a serious developmental disorder of the brain. Recently, various deep learning methods based on functional magnetic resonance imaging (fMRI) data have been developed for the classification of ASD. Among them, graph neural networks, which generalize deep neural network models to graph structured data, have shown great advantages. However, in graph neural methods, because the graphs constructed are homogeneous, the phenotype information of the subjects cannot be fully utilized. This affects the improvement of the classification performance. METHODS: To fully utilize the phenotype information, this paper proposes a heterogeneous graph convolutional attention network (HCAN) model to classify ASD. By combining an attention mechanism and a heterogeneous graph convolutional network, important aggregated features can be extracted in the HCAN. The model consists of a multilayer HCAN feature extractor and a multilayer perceptron (MLP) classifier. First, a heterogeneous population graph was constructed based on the fMRI and phenotypic data. Then, a multilayer HCAN is used to mine graph-based features from the heterogeneous graph. Finally, the extracted features are fed into an MLP for the final classification. RESULTS: The proposed method is assessed on the autism brain imaging data exchange (ABIDE) repository. In total, 871 subjects in the ABIDE I dataset are used for the classification task. The best classification accuracy of 82.9% is achieved. Compared to the other methods using exactly the same subjects in the literature, the proposed method achieves superior performance to the best reported result. CONCLUSIONS: The proposed method can effectively integrate heterogeneous graph convolutional networks with a semantic attention mechanism so that the phenotype features of the subjects can be fully utilized. Moreover, it shows great potential in the diagnosis of brain functional disorders with fMRI data.

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31. Stephenson KG, Levine A, Russell NCC, Horack J, Butter EM. Measuring intelligence in Autism and ADHD: Measurement invariance of the-Binet 5th edition and impact of subtest scatter on abbreviated IQ accuracy. Autism research : official journal of the International Society for Autism Research. 2023.

Scatter and heterogeneity in cognitive profiles is thought to be common in autism spectrum disorder (ASD), which may indicate differences in the construct of IQ. However, less research has investigated IQ scatter in attention-deficit/hyperactivity disorder (ADHD). Scatter is also thought to negatively impact the predictive validity of IQ summary scores, although there is research refuting this notion. Abbreviated IQ tests, such as the Stanford-Binet fifth edition (SB-5) abbreviated battery IQ (ABIQ), may be especially susceptible to the influence of scatter. We tested the measurement invariance of the SB-5 as well as the predictive validity of the ABIQ in predicting FSIQ in 1679 youth (21% female) ages 2-16 years with a clinical diagnosis of ASD or ADHD. Results indicated the SB-5 is measuring IQ the same way in ASD and ADHD. There were no differences between diagnostic groups in scatter between ABIQ (i.e., routing) subtests. Additionally, scatter was not related to dimensional autistic traits. Higher degree of scatter was associated with poorer predictive validity of the ABIQ and a higher likelihood of overestimating FSIQ, regardless of diagnosis. Overall, we found more similarities than differences between the ASD and ADHD groups. Our results show that the SB-5 ABIQ is generally a strong predictor of FSIQ in youth with neurodevelopmental disorders. However, the use of the SB-5 ABIQ in research and clinical applications, without consideration of scatter on routing subtests, is potentially problematic.

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32. Su WC, Culotta M, Mueller J, Tsuzuki D, Bhat AN. Autism-Related Differences in Cortical Activation When Observing, Producing, and Imitating Communicative Gestures: An fNIRS Study. Brain sciences. 2023; 13(9).

Children with autism spectrum disorder (ASD) have difficulties in gestural communication during social interactions. However, the neural mechanisms involved in naturalistic gestural communication remain poorly understood. In this study, cortical activation patterns associated with gestural communication were examined in thirty-two children with and without ASD (mean age: 11.0 years, SE: 0.6 years). Functional near-infrared spectroscopy (fNIRS) was used to record cortical activation while children produced, observed, or imitated communicative gestures. Children with ASD demonstrated more spatial and temporal errors when performing and imitating communicative gestures. Although both typically developing (TD) children and children with ASD showed left-lateralized cortical activation during gesture production, children with ASD showed hyperactivation in the middle/inferior frontal gyrus (MIFG) during observation and imitation, and hypoactivation in the middle/superior temporal gyrus (MSTG) during gesture production compared to their TD peers. More importantly, children with ASD exhibited greater MSTG activation during imitation than during gesture production, suggesting that imitation could be an effective intervention strategy to engage cortical regions crucial for processing and producing gestures. Our study provides valuable insights into the neural mechanisms underlying gestural communication difficulties in ASD, while also identifying potential neurobiomarkers that could serve as objective measures for evaluating intervention effectiveness in children with ASD.

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33. Tan R, Ashwin C. Validation of the English version of the Autism-Spectrum Quotient in an English-speaking Singaporean sample. PloS one. 2023; 18(9): e0291726.

The Autism-Spectrum Quotient (AQ) measures the degree of autistic traits in clinical and non-clinical samples and has been validated in various countries and languages. However, the AQ has not been validated in Singapore, an Asian country whose population speaks predominantly English. Although previous validation studies have examined the distribution of scores, internal consistency, test-retest reliability and construct, convergent and discriminant validities in Asian countries using translated versions of the AQ and generally shown a suitable structure of the AQ, other studies testing cultural differences of the AQ have provided inconsistent results about whether differences exist in scores between Western and Asian samples. Additionally, while prior literature has consistently documented sex differences in AQ scores, findings about the relationship between personality traits and friendship quality with autistic traits have been mixed. The aim of the current study was to validate the psychometric properties of the original English AQ in a non-clinical Singaporean sample and compare their mean AQ scores to previous Western samples. In this study, psychometric properties of the original English AQ were assessed in 113 Singaporean adults (47M/66F; Mean age = 37.78; SD = 14.52) with no clinical diagnoses. They completed the AQ, the Friendship Questionnaire (FQ) and the short Big Five Inventory, with a subsample completing the AQ twice within three to six months. Results showed that AQ scores were normally distributed and the AQ had satisfactory internal consistency and test-retest reliability and it demonstrated construct, convergent and discriminant validities. Higher AQ scores were related to lower friendship quality and extraversion and higher neuroticism. The mean AQ scores of the Singaporean sample did not differ to that reported in original British sample. Together, present findings showed the original English AQ to be reliable for measuring the degree of autistic traits in a non-clinical Singaporean sample, producing comparable AQ scores and showing the same relationships to other social and personality measures and the same sex differences as has been reported in English samples. This supports the use of the AQ in Singapore for clinical and research purposes and suggests that the measurement of autistic traits in some Asian cultures is comparable to that reported in Western cultures.

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34. Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. Cells. 2023; 12(18).

The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5′ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death. Clinically, premutation carriers may exhibit a wide range of symptoms and phenotypes. Any of the problems associated with the premutation can appropriately be called FXPAC. Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND) can fall under FXPAC. Understanding the molecular and clinical aspects of the premutation of the FMR1 gene is crucial for the accurate diagnosis, genetic counseling, and appropriate management of affected individuals and families. This paper summarizes all the known problems associated with the premutation and documents the presentations and discussions that occurred at the International Premutation Conference, which took place in New Zealand in 2023.

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35. Torres G, Mourad M, Iqbal S, Moses-Fynn E, Pandita A, Siddhartha SS, Sood RA, Srinivasan K, Subbaiah RT, Tiwari A, Leheste JR. Conceptualizing Epigenetics and the Environmental Landscape of Autism Spectrum Disorders. Genes. 2023; 14(9).

Complex interactions between gene variants and environmental risk factors underlie the pathophysiological pathways in major psychiatric disorders. Autism Spectrum Disorder is a neuropsychiatric condition in which susceptible alleles along with epigenetic states contribute to the mutational landscape of the ailing brain. The present work reviews recent evolutionary, molecular, and epigenetic mechanisms potentially linked to the etiology of autism. First, we present a clinical vignette to describe clusters of maladaptive behaviors frequently diagnosed in autistic patients. Next, we microdissect brain regions pertinent to the nosology of autism, as well as cell networks from the bilateral body plan. Lastly, we catalog a number of pathogenic environments associated with disease risk factors. This set of perspectives provides emerging insights into the dynamic interplay between epigenetic and environmental variation in the development of Autism Spectrum Disorders.

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36. Vancolen S, Ayash T, Allard MJ, Sébire G. Sex-Specific Dysconnective Brain Injuries and Neuropsychiatric Conditions such as Autism Spectrum Disorder Caused by Group B Streptococcus-Induced Chorioamnionitis. International journal of molecular sciences. 2023; 24(18).

Global health efforts have increased against infectious diseases, but issues persist with pathogens like Group B Streptococcus (GBS). Preclinical studies have elaborated on the mechanistic process of GBS-induced chorioamnionitis and its impact on the fetal programming of chronic neuropsychiatric diseases. GBS inoculation in rodents demonstrated the following: (i) silent and self-limited placental infection, similar to human chorioamnionitis; (ii) placental expression of chemokines attracting polymorphonuclear (PMN) cells; (iii) in vitro cytokine production; (iv) PMN infiltration in the placenta (histologic hallmark of human chorioamnionitis), linked to neurobehavioral impairments like cerebral palsy and autism spectrum disorders (ASD); (v) upregulation of interleukin-1β (IL-1β) in the placenta and fetal blood, associated with higher ASD risk in humans; (vi) sex-specific effects, with higher IL-1β release and PMN recruitment in male placenta; (vii) male offspring exhibiting ASD-like traits, while female offspring displayed attention deficit and hyperactivity disorder (ADHD)-like traits; (viii) IL-1 and/or NF-kB blockade alleviate placental and fetal inflammation, as well as subsequent neurobehavioral impairments. These findings offer potential therapeutic avenues, including sex-adapted anti-inflammatory treatment (e.g., blocking IL-1; repurposing of FDA-approved IL-1 receptor antagonist (IL-1Ra) treatment). Blocking the IL-1 pathway offers therapeutic potential to alleviate chorioamnionitis-related disabilities, presenting an opportunity for a human phase II RCT that uses IL-1 blockade added to the classic antibiotic treatment of chorioamnionitis.

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37. Warreman EB, Lloyd SE, Nooteboom LA, Leenen PJM, Terry MB, Hoek HW, van Rossum EFC, Vermeiren R, Ester WA. Psychological, behavioural, and physical aspects of caregiver strain in autism-caregivers: a cohort study. EClinicalMedicine. 2023; 64: 102211.

BACKGROUND: People who give care to autistic individuals (autism-caregivers) experience higher levels of caregiver strain than people who provide care for individuals with other chronic conditions (non-autism-caregivers). This places them at higher risk for psychological, behavioural and physical health concerns. The aim of this study is to delineate psychological, behavioural, and physical aspects of caregiver strain in autism-caregivers compared to non-autism-caregivers. METHODS: We included 3354 adult caregivers from the general population in the Netherlands participating in the second assessment (January, 1, 2014-December, 31, 2017) of the Lifelines Cohort. In this cohort study, using multivariable regression adjusted for age, sex, and socioeconomic status, we analysed psychological (anxiety and depression based on a Mini International Neuropsychiatric Interview, and self-reported stress and perceived health), behavioural (questionnaire-assessed physical activity, alcohol use, and smoking), and physical aspects (body mass index, waist circumference, and leukocyte-counts) of caregiver strain in autism-caregivers (n = 722) compared with non-autism-caregivers (n = 2632). FINDINGS: Autism-caregivers reported more stress (OR 3.61, 95% CI 2.60-4.99). Both anxiety (OR 1.85, 95% CI 1.37-2.49) and depressive disorders (OR 1.83, 95% CI 1.17-2.86) were more common in autism-caregivers than in non-autism-caregivers. Perceived health, physical activity, alcohol use, and smoking were not different between autism- and non-autism-caregivers. In autism-caregivers, lymphocyte- and monocyte-counts were lower than in non-autism-caregivers. INTERPRETATION: In this large cohort, autism-caregivers had worse psychological health than non-autism-caregivers. Moreover, autism-caregiving might be associated with an altered immune balance. These findings underline the higher caregiver strain in autism-caregivers compared to other caregivers. This calls for increased support to autism-caregivers. FUNDING: Lifelines has been funded by the Dutch government.

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38. Woo T, King C, Ahmed NI, Cordes M, Nistala S, Will MJ, Bloomer C, Kibiryeva N, Rivera RM, Talebizadeh Z, Beversdorf DQ. microRNA as a Maternal Marker for Prenatal Stress-Associated ASD, Evidence from a Murine Model. Journal of personalized medicine. 2023; 13(9).

Autism Spectrum Disorder (ASD) has been associated with a complex interplay between genetic and environmental factors. Prenatal stress exposure has been identified as a possible risk factor, although most stress-exposed pregnancies do not result in ASD. The serotonin transporter (SERT) gene has been linked to stress reactivity, and the presence of the SERT short (S)-allele has been shown to mediate the association between maternal stress exposure and ASD. In a mouse model, we investigated the effects of prenatal stress exposure and maternal SERT genotype on offspring behavior and explored its association with maternal microRNA (miRNA) expression during pregnancy. Pregnant female mice were divided into four groups based on genotype (wildtype or SERT heterozygous knockout (Sert-het)) and the presence or absence of chronic variable stress (CVS) during pregnancy. Offspring behavior was assessed at 60 days old (PD60) using the three-chamber test, open field test, elevated plus-maze test, and marble-burying test. We found that the social preference index (SPI) of SERT-het/stress offspring was significantly lower than that of wildtype control offspring, indicating a reduced preference for social interaction on social approach, specifically for males. SERT-het/stress offspring also showed significantly more frequent grooming behavior compared to wildtype controls, specifically for males, suggesting elevated repetitive behavior. We profiled miRNA expression in maternal blood samples collected at embryonic day 21 (E21) and identified three miRNAs (mmu-miR-7684-3p, mmu-miR-5622-3p, mmu-miR-6900-3p) that were differentially expressed in the SERT-het/stress group compared to all other groups. These findings suggest that maternal SERT genotype and prenatal stress exposure interact to influence offspring behavior, and that maternal miRNA expression late in pregnancy may serve as a potential marker of a particular subtype of ASD pathogenesis.

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