1. Akama F, Mikami K, Orihashi Y, Takase S, Hanawa K, Nishikawa K, Watanabe N, Kimoto K, Takahashi Y, Onishi Y, Salas J, Yamamoto K, Ueno S. Psychiatric Features of Children with Chronic Functional Constipation: Focusing on Individuals with Autism Spectrum Disorder. J Autism Dev Disord;2024 (Jan 24)

PURPOSE: The present study aimed to assess the psychiatric characteristics of children with chronic functional constipation using the Aberrant Behavior Checklist-Japanese version and the Pervasive Developmental Disorders/Autism Society Japan Rating Scale, and to examine the frequency of autism spectrum disorder in children with chronic functional constipation. We also investigated differences in treatment duration between children with and without autism spectrum disorder. METHODS: Treatment outcomes were examined retrospectively for 55 participants (chronic functional constipation group: n = 30, mean age 3.4 years; control group: n = 25, mean age, 4.5 years). The association between chronic functional constipation and autism spectrum disorder was evaluated using multivariable logistic regression analysis. RESULTS: The mean Aberrant Behavior Checklist score and frequency of individuals with autism spectrum disorder were significantly higher in the chronic functional constipation group. After adjusting for age and sex, chronic functional constipation was significantly associated with autism spectrum disorder. In the chronic functional constipation group, the frequency of onset was significantly higher in children with autism spectrum disorder under 1 year of age. When treated, the mean duration of constipation was significantly longer in children with autism spectrum disorder. CONCLUSION: Pediatricians, pediatric surgeons, and child psychiatrists should work closely to ensure appropriate treatment of chronic functional constipation in children with autism spectrum disorder.

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2. Chen L, Liu J, Kang JB, Rosenberg-Lee M, Abrams DA, Menon V. Atypical pattern separation memory and its association with restricted interests and repetitive behaviors in autistic children. Autism;2024 (Jan 23):13623613231223354.

Memory challenges remain understudied in childhood autism. Our study investigates one specific aspect of memory function, known as pattern separation memory, in autistic children. Pattern separation memory refers to the critical ability to store unique memories of similar stimuli; however, its role in childhood autism remains largely uncharted. Our study first uncovered that the pattern separation memory was significantly reduced in autistic children, and then showed that reduced memory performance was linked to their symptoms of repetitive, restricted interest and behavior. We also identified distinct subgroups with profiles of reduced and increased generalization for pattern separation memory. More than 72% of autistic children showed a tendency to reduce memory generalization, focusing heavily on unique details of objects for memorization. This focus made it challenging for them to identify commonalities across similar entities. Interestingly, a smaller proportion of autistic children displayed an opposite pattern of increased generalization, marked by challenges in differentiating between similar yet distinct objects. Our findings advance the understanding of memory function in autism and have practical implications for devising personalized learning strategies that align with the unique memory patterns exhibited by autistic children. This study will be of broad interest to researchers in psychology, psychiatry, and brain development as well as teachers, parents, clinicians, and the wider public.

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3. Choi H, Kim JH, Yang HS, Kim JY, Cortese S, Smith L, Koyanagi A, Dragioti E, Radua J, Fusar-Poli P, Shin JI, Cheon KA, Solmi M. Pharmacological and non-pharmacological interventions for irritability in autism spectrum disorder: a systematic review and meta-analysis with the GRADE assessment. Mol Autism;2024 (Jan 23);15(1):7.

BACKGROUND: Numerous interventions for irritability in autism spectrum disorder (ASD) have been investigated. We aimed to appraise the magnitude of pharmacological and non-pharmacological interventions for irritability in ASD without any restrictions in terms of eligible interventions. METHODS: We systematically searched PubMed/MEDLINE, Scopus, and Web of Science until April 15, 2023. We included randomized controlled trials (RCTs) with a parallel design that examined the efficacy of interventions for the treatment of irritability in patients of any age with ASD without any restrictions in terms of eligible interventions. We performed a random-effects meta-analysis by pooling effect sizes as Hedges’ g. We classified assessed interventions as follows: pharmacological monotherapy, risperidone plus adjuvant therapy versus risperidone monotherapy, non-pharmacological intervention, and dietary intervention. We utilized the Cochrane tool to evaluate the risk of bias in each study and the GRADE approach to assess the certainty of evidence for each meta-analyzed intervention. RESULTS: Out of 5640 references, we identified 60 eligible articles with 45 different kinds of interventions, including 3531 participants, of which 80.9% were males (mean age [SD] = 8.79 [3.85]). For pharmacological monotherapy, risperidone (Hedges’ g - 0.857, 95% CI - 1.263 to - 0.451, certainty of evidence: high) and aripiprazole (Hedges’ g - 0.559, 95% CI - 0.767 to - 0.351, certainty of evidence: high) outperformed placebo. Among the non-pharmacological interventions, parent training (Hedges’ g - 0.893, 95% CI - 1.184 to - 0.602, certainty of evidence: moderate) showed a significant result. None of the meta-analyzed interventions yielded significant effects among risperidone + adjuvant therapy and dietary supplementation. However, several novel molecules in augmentation to risperidone outperformed risperidone monotherapy, yet from one RCT each. LIMITATIONS: First, various tools have been utilized to measure the irritability in ASD, which may contribute to the heterogeneity of the outcomes. Second, meta-analyses for each intervention included only a small number of studies and participants. CONCLUSIONS: Only risperidone, aripiprazole among pharmacological interventions, and parent training among non-pharmacological interventions can be recommended for irritability in ASD. As an augmentation to risperidone, several novel treatments show promising effects, but further RCTs are needed to replicate findings. Trial registration PROSPERO, CRD42021243965.

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4. Dunn JT, Guidotti A, Grayson DR. Behavioral and molecular characterization of prenatal stress effects on the C57BL/6J genetic background for the study of autism spectrum disorder. eNeuro;2024 (Jan 23)

Stress-inducing events during pregnancy are associated with aberrant neurodevelopment resulting in adverse psychiatric outcomes, including autism spectrum disorder (ASD). While numerous preclinical models for the study of ASD are frequently generated using C57BL/6J mice, few studies have investigated the effects of prenatal stress on this genetic background. In the current manuscript, we stressed C57BL/6 dams during gestation and examined numerous behavioral and molecular endophenotypes in the adult male and female offspring to characterize the resultant phenotype as compared with offspring born from non-stressed dams. Adult mice born from prenatally restraint stressed (PRS) dams demonstrated reduced sociability and reciprocal social interaction along with increased marble burying behaviors relative to mice born from non-stressed (NS) control dams. Differential expression of genes related to excitatory and inhibitory neurotransmission was evaluated in the medial prefrontal cortex, amygdala, hippocampus, nucleus accumbens and caudate-putamen via qRT-PCR. The male PRS mouse behavioral phenotype coincided with aberrant expression of glutamate and GABA marker genes (e.g., Grin1, Grin2b, Gls, Gat1, Reln) in neural substrates of social behavior. Rescue of the male PRS sociability deficit by a known antipsychotic with epigenetic properties (i.e., clozapine (5 mg/kg) + 18-hr washout) indicated possible epigenetic regulation of genes that govern sociability. Clozapine treatment increased the expression levels of genes involved in DNA methylation, histone methylation, and histone acetylation in the nucleus accumbens. Identification of etiology-specific mechanisms underlying clinically relevant behavioral phenotypes may ultimately provide novel therapeutic interventions for the treatment of psychiatric disorders including ASD.Significance Statement The effects of prenatal stress on the C57BL/6J mouse genetic background are incompletely understood with regard to adverse psychiatric outcomes and respective underlying molecular mechanisms. Considering the prominent use of C57BL/6J mice for the generation of preclinical models for the study of autism spectrum disorder (ASD) and putative differences in stress resiliency across mouse strains, this gap in knowledge is an obstacle to contextualizing prenatal stress as an ASD etiological risk factor within the broader ASD preclinical literature. This study expands current knowledge of the relationship between prenatal stress exposure and the later presentation of representative behaviors for ASD symptom domains, underlying changes in gene expression, and insight into the potential of alleviating ASD-like behaviors through epigenetic mechanisms.

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5. Gao Q, Bi D, Li B, Ni M, Pang D, Li X, Zhang X, Xu Y, Zhao Q, Zhu C. The Association Between Branched-Chain Amino Acid Concentrations and the Risk of Autism Spectrum Disorder in Preschool-Aged Children. Mol Neurobiol;2024 (Jan 24)

Several studies have linked branched-chain amino acid (BCAA) metabolism disorders with autism spectrum disorder (ASD), but the results have been inconsistent. The purpose of this study was to explore the association between BCAA concentrations and the risk of ASD. A total of 313 participants were recruited from two tertiary referral hospitals from May 2018 to July 2021. Concentrations of BCAAs in dried blood spots were analyzed using liquid chromatography-tandem mass spectrometry-based analysis. Multivariate analyses and restricted cubic spline models were used to identify the association between BCAAs and the risk of ASD, and a nomogram was developed by using multivariate logistic regression and the risk was determined by receiver operating characteristic curve analysis and calibration curve analysis. Concentrations of total BCAA, valine, and leucine/isoleucine were higher in the ASD group, and all of them were positively and non-linearly associated with the risk of ASD even after adjusting for potential confounding factors such as age, gender, body mass index, and concentrations of BCAAs (P < 0.05). The nomogram integrating total BCAA and valine showed a good discriminant AUC value of 0.756 (95% CI 0.676-0.835). The model could yield net benefits across a reasonable range of risk thresholds. In the stratified analysis, the diagnostic ability of the model was more pronounced in children older than 3 years. We provide evidence that increased levels of BCAAs are associated with the risk of ASD, and the nomogram model of BCAAs presented here can serve as a marker for the early diagnosis of ASD.

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6. Gent V, Marshall J, Weir KA, Trembath D. Investigating the impact of autistic children’s feeding difficulties on caregivers. Child Care Health Dev;2024 (Jan);50(1):e13218.

AIM: The aim of this study was to investigate the influence of children’s autism characteristics, sensory profiles and feeding difficulties on caregiver-reported impact at mealtimes. BACKGROUND: Caregivers of children (5-12 years) with a diagnosis of Autism Spectrum Disorder completed an online survey examining (a) demographic characteristics, (b) children’s autism characteristics (Social Communication Questionnaire), (c) sensory profiles (Sensory Profile 2-short form), (d) feeding difficulties (Behavioural Paediatrics Feeding Assessment Scale, BPFAS) and (c) caregiver-reported impact of feeding difficulties (Feeding-Swallowing Impact Survey, FS-IS). RESULTS: Seventy-eight caregivers completed surveys for 80 children. Children with clinically significant feeding difficulties on the BPFAS (n = 55, 68.8%) had higher levels of caregiver-reported impact on daily activities, worry and feeding difficulties compared to children without clinically significant feeding difficulties (FS-IS; U = 257.000, z = -4.471, p < 0.01). Spearman's rank correlation showed a statistically significant, moderate correlation between BPFAS total frequency score and FS-IS Daily activities score, rs (98) = 0.56, p < 0.01, indicating that as the frequency of feeding difficulties increased, the impact of these feeding difficulties on caregivers also increased. Using multiple regression, a model comprising of the three factors was statistically significant (F[1, 78] = 87.75, p < 0.001, adj. R(2)  = 0.52), with children's frequency of feeding difficulties the strongest predictor of caregiver-reported impact with a moderate effect size (r = 0.49). CONCLUSION: Autistic children's feeding difficulties had a greater impact on caregivers than autism or sensory profiles, with the frequency of feeding difficulties and the caregiver impact of these feeding difficulties positively correlated. The findings demonstrate that efforts to understand and address feeding difficulties in autistic children must extend beyond the children to include their families.

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7. Gore K, Gilbert M, Hawke M, Barbaro J. Investigating autism knowledge, self-efficacy, and confidence following maternal and child health nurse training for the early identification of autism. Front Neurol;2023;14:1201292.

INTRODUCTION: Early identification of children with a high likelihood of autism can lead to referral for diagnostic services and access to early supports, resulting in improved outcomes for children and families. Maternal and Child Health Nurses (MCHNs) in Victoria, Australia, are well-placed to monitor infants and toddlers for signs of autism, given children and caregivers attend free, regular, well-baby consultations from birth through to school age. This study aimed to identify the impact of personal and workplace factors on MCHNs’ competencies of autism knowledge, self-efficacy in identifying autistic infants and toddlers, and confidence in speaking to parents/caregivers about autism. Additionally, the study sought to identify which personal and workplace factors might predict increased competency in these areas. METHODS: After identifying training needs and current competency levels via a training needs analysis (TNA), 1,428 MCHNs received training on the early signs of autism and in the use of the Social Attention and Communication Surveillance-Revised (SACS-R) tool for early autism identification; the training program was known as Monitoring of Social Attention, Interaction, and Communication (MoSAIC). RESULTS: Previous MCHN autism training and knowledge of autism community resources significantly contributed to increased MCHN self-efficacy in identifying autistic infants and toddlers, while knowledge of community resources was the best predictor of confidence in speaking with parents/caregivers about autism. Perceived self-efficacy and confidence in speaking with parents/caregivers about autism significantly increased following the MoSAIC autism training. DISCUSSION: Targeted autism training for primary health practitioners is an important first step for early autism identification and initiating conversations with parents/caregivers.

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8. Iannuccelli M, Vitriolo A, Licata L, Lo Surdo P, Contino S, Cheroni C, Capocefalo D, Castagnoli L, Testa G, Cesareni G, Perfetto L. Correction: Curation of causal interactions mediated by genes associated with autism accelerates the understanding of gene-phenotype relationships underlying neurodevelopmental disorders. Mol Psychiatry;2024 (Jan 24)

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9. Jang Y, Choi H, Yoo S, Park H, Park BY. Structural connectome alterations between individuals with autism and neurotypical controls using feature representation learning. Behav Brain Funct;2024 (Jan 24);20(1):2.

Autism spectrum disorder is one of the most common neurodevelopmental conditions associated with sensory and social communication impairments. Previous neuroimaging studies reported that atypical nodal- or network-level functional brain organization in individuals with autism was associated with autistic behaviors. Although dimensionality reduction techniques have the potential to uncover new biomarkers, the analysis of whole-brain structural connectome abnormalities in a low-dimensional latent space is underinvestigated. In this study, we utilized autoencoder-based feature representation learning for diffusion magnetic resonance imaging-based structural connectivity in 80 individuals with autism and 61 neurotypical controls that passed strict quality controls. We generated low-dimensional latent features using the autoencoder model for each group and adopted an integrated gradient approach to assess the contribution of the input data for predicting latent features during the encoding process. Subsequently, we compared the integrated gradient values between individuals with autism and neurotypical controls and observed differences within the transmodal regions and between the sensory and limbic systems. Finally, we identified significant associations between integrated gradient values and communication abilities in individuals with autism. Our findings provide insights into the whole-brain structural connectome in autism and may help identify potential biomarkers for autistic connectopathy.

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10. Jin T, Huang W, Pang Q, He Z, Yuan L, Zhang H, Xing D, Guo S, Zhang T. Inferring the genetic effects of serum homocysteine and vitamin B levels on autism spectral disorder through Mendelian randomization. Eur J Nutr;2024 (Jan 24)

PURPOSE: The previous studies have suggested that serum homocysteine (Hcy) and vitamin B levels are potentially related to autism spectrum disorder (ASD). However, the causality between their concentrations and ASD risk remains unclear. To elucidate this genetic association, we used a Mendelian randomization (MR) design. METHODS: For this MR analysis, 47 single-nucleotide polymorphisms (SNPs)-13 related to Hcy, 13 to folate, 14 to vitamin B6, and 7 to vitamin B12-were obtained from a large-scale Genome-Wide Association Studies (GWAS) database and employed as instrumental variables (IVs). Our study used three approaches to calculate the MR estimates, including inverse-variance weighted (IVW) method, MR-Egger method, and weighted median (WM) method. Among these, the IVW method served as our primary MR method. False discovery rate (FDR) was implemented to correct for multiple comparisons. We also performed a series of sensitivity analyses, including Cochran’s Q test, MR-Egger’s intercept, MR-PRESSO, leave-one-out analysis, and the funnel plot. RESULTS: Univariable Mendelian randomization (UVMR) analysis revealed a statistical association between serum vitamin B12 levels and ASD risk (OR = 1.68, 95% CI 1.12-2.52, P = 0.01) using the IVW method. However, neither the WM method (OR = 1.57, 95% CI 0.93-2.66, P = 0.09) nor the MR-Egger method (OR = 2.33, 95% CI 0.48-11.19, P = 0.34) was significantly association with higher levels of serum vitamin B12 and ASD risk. Additionally, we found no evidence of causal relationships between serum levels of vitamin B6, folate, Hcy, and ASD risk. After correcting for the FDR, the causality between serum vitamin B12 levels and ASD risk remained significant (q value = 0.0270). Multivariate Mendelian randomization (MVMR) analysis indicated an independent association between elevated serum vitamin B12 levels and the risk of ASD (OR = 1.74, 95% CI 1.03-2.95, P = 0.03) using the IVW method, but this finding was inconsistent when using the WM method (OR = 1.73, 95% CI 0.89-3.36, P = 0.11) and MR-Egger method (OR = 1.60, 95% CI 0.95-2.71, P = 0.08). Furthermore, no causal associations were observed for serum levels of vitamin B6 and folate in MVMR analysis. Sensitivity analyses confirmed that these results were reliable. CONCLUSION: Our study indicated that elevated serum vitamin B12 levels might increase the risk of ASD. The potential implications of our results for ASD risk warrant validation in randomized clinical trials.

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11. Li X, Jiang M, Zhao L, Yang K, Lu T, Zhang D, Li J, Wang L. Relationship between autism and brain cortex surface area: genetic correlation and a two-sample Mendelian randomization study. BMC Psychiatry;2024 (Jan 23);24(1):69.

BACKGROUND: Alterations in surface area (SA) in specific regions of the cortex have been reported in many individuals with autism spectrum disorder (ASD), however, the genetic background between ASD and SA is still unclear. This study estimated the genetic correlation and causal effect of ASD and cortical SA. METHODS: Summarized data of genome-wide association studies (GWAS) were separately downloaded from the Psychiatric Genomics Consortium (18,381 cases of ASD, and 27,969 controls) and the Enhancing Neuroimaging Genetics through Meta-Analysis Consortium (33,992 participants of Europeans). We used Linkage disequilibrium score regression (LDSC) and Heritability Estimation from Summary Statistics (HESS) to calculate the heritability of each trait. As for the genetic correlation between ASD and SA, LDSC was used for global correlation and HESS was used to examine the local genetic covariance further. We used three Mendelian randomization (MR) methods, Inverse-variance weighted, MR-Egger, and weighted median to estimate the causal relationship. RESULTS: LDSC observed a nominal significant genetic correlation (rg = 0.1229, P-value = 0.0346) between ASD and SA of the rostral anterior cingulate gyrus whereas analysis through HESS did not reveal any significant loci having genetic covariance. Based on MR results, statistically meaningful estimations were found in the following areas, postcentral cortex (β (SE) = 21.82 (7.84) mm, 95% CI: 6.46 to 37.19 mm, P(IVW) = 5.38 × 10(- 3), P(FDR) = 3.09 × 10(- 2)), posterior cingulate gyrus (β (SE) = 6.23 (2.69) mm, 95% CI: 0.96 to 11.49 mm, P(IVW) = 2.05 × 10(- 2), P(FDR) = 4.26 × 10(- 2)), supramarginal gyrus (β (SE) = 19.25 (8.43) mm, 95% CI: 29.29 to 35.77 mm, P(IVW) = 2.24 × 10(- 2), P(FDR) = 4.31 × 10(- 2)). CONCLUSION: Our results provided genetic evidence to support the opinion that individuals with ASD tend to develop differences in cortical SA of special areas. The findings contributed to understanding the genetic relationship between ASD and cortical SA.

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12. Liu Y, Hu J. Effect of Object on Kinesthetic Motor Imagery in Autism Spectrum Disorder: A Pilot Study Based on Eye-Tracking Methodology. Neuropsychiatr Dis Treat;2024;20:167-183.

INTRODUCTION: Social disturbance is a significant autism spectrum disorder (ASD) symptom. Action representation, which is a fundamental component of social interaction, can be investigated through kinesthetic motor imagery (KMI). KMI has been commonly studied with the well-developed laterality judgment paradigm, wherein participants are required to discriminate the laterality of a hand rotated by different angles along one or more axes. Here, we investigated the KMI processing in individuals with ASD by hand laterality judgment paradigm with eye-tracking methodology. METHODS: The current study included 22 participants with ASD and 22 typical developing (TD) peers matched for age, gender, and intelligence. Participants were asked to judge the laterality of hand-with-tooth brush images. RESULTS: Compared to the TD controls, individuals with ASD performed KMI with lower accuracy and longer response time in both correct and incorrect action conditions. The incorrect action representation had greater effect on KMI for individuals with ASD. Differences in eye-movement patterns were also observed, characterized by individuals with ASD were more focused on the object area while TD peers were more focused on the hand area. CONCLUSION: Results suggest that while altered KMI performance was observed, the incorrect action representation elicited more engagement of KMI in both groups. The object-centered eye-movement pattern may contribute to the refine of motor simulation intervention for individuals with ASD.

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13. Lunsky Y, Matheson FI, Kouyoumdjian F, Whittingham L, Lin E, Durbin A, Calzavara A, Moser A, Dastoori P, Sirotich F, Volpe T. Intellectual and developmental disabilities in Ontario’s criminal justice and forensic mental health systems: Using data to tell the story. Crim Behav Ment Health;2024 (Jan 24)

BACKGROUND: International studies show that adults with intellectual and developmental disabilities (IDD) are disproportionately represented in the criminal justice and forensic mental health systems; however, it is difficult to capture their involvement across systems in any one jurisdiction. AIMS: The current study aimed to estimate the prevalence of IDD across different parts of the criminal justice and forensic mental health systems in Ontario and to describe the demographic and clinical profiles of these individuals relative to their counterparts without IDD. METHODS: This project utilised administrative data to identify and describe the demographic and clinical characteristics of adults with IDD and criminal justice or forensic involvement across four sectors: federal correctional facilities, provincial correctional facilities, forensic inpatient mental health care and community mental health programmes. Questions were driven by and results were contextualised by a project advisory group and people with lived experience from the different sectors studied, resulting in a series of recommendations. RESULTS: Adults with IDD were over-represented in each of the four settings, ranging from 2.1% in federal corrections to 16.7% in forensic inpatient care. Between 20% (forensic inpatient) and 38.4% (provincial corrections) were under the age of 25 and between 34.5% (forensic inpatient) and 41.8% (provincial corrections) resided in the lowest income neighbourhoods. Medical complexity and rates of co-occurring mental health conditions were higher for people with IDD than those without IDD in federal and provincial corrections. CONCLUSIONS: Establishing a population-based understanding of people with IDD within these sectors is an essential first step towards understanding and addressing service and care needs. Building on the perspectives of people who work in and use these systems, this paper concludes with intervention recommendations before, during and after justice involvement.

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14. Porter N, Loveland KA, Honda H, Yamane T. What is a Good Mother of Children with Autism? A Cross-Cultural Comparison Between the U.S. and Japan. J Autism Dev Disord;2024 (Jan 24)

This study compared the characteristics of ‘good mothers’ of children with ASD (Autism Spectrum Disorder) as perceived by mothers of children with ASD in two countries-the U.S. and Japan. Grounded in the theory of culturally-influenced construal of the self, we hypothesized that U.S. mothers would prioritize fostering self-reliance and advocating for their child’s well-being while Japanese mothers would prioritize maintaining close and harmonious relationships with their child. We conducted semi-structured interviews with 52 U.S. and 51 Japanese mothers of children with ASD about the characteristics of a good mother of a child with ASD (GMA) and characteristics of a good mother in general (GMG) and compared the frequencies of ‘good mother’ categories emerging from thematic analysis. Mothers of children with ASD in both countries viewed guiding children as the most important characteristic for both GMG and GMA. As hypothesized, U.S mothers tended to emphasize a mother’s active role in advocating for her children, getting her child services and intervention, and educating herself about ASD. In contrast, Japanese mothers tended to value a mother’s ability to accept her child, know her child well, and provide adequate support for her child based on a child-oriented perspective. The mother’s role of advocating for her child and educating herself emerged more frequently in responses regarding GMA than GMG in the U.S. sample. The study revealed cultural differences in characterization of GMA, suggesting that more indirect models of instruction may be effective for different cultural groups.

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15. Pourtavakoli A, Ghafouri-Fard S, Eslami S, Brand S, Taheri M. Expression assay of calcium signaling related lncRNAs in autism. Mol Biol Rep;2024 (Jan 24);51(1):185.

BACKGROUND: Calcium signaling has essential roles in the neurodevelopmental processes and pathophysiology of related disorders for instance autism spectrum disorder (ASD). METHODS AND RESULTS: We compared expression of SLC1A1, SLC25A12, RYR2 and ATP2B2, as well as related long non-coding RNAs, namely LINC01231, lnc-SLC25A12, lnc-MTR-1 and LINC00606 in the peripheral blood of patients with ASD with healthy children. Expression of SLC1A1 was lower in ASD samples compared with control samples (Expression ratio (95% CI) 0.24 (0.08-0.77), adjusted P value = 0.01). Contrary, expression of LINC01231 was higher in cases compared with control samples (Expression ratio (95% CI) 25.52 (4.19-154), adjusted P value = 0.0006) and in male cases compared with healthy males (Expression ratio (95% CI) 28.24 (1.91-418), adjusted P value = 0.0009). RYR2 was significantly over-expressed in ASD children compared with control samples (Expression ratio (95% CI) 4.5 (1.16-17.4), adjusted P value = 0.029). Then, we depicted ROC curves for SLC1A1, LINC01231, RYR2 and lnc-SLC25A12 transcripts showing diagnostic power of 0.68, 0.75, 0.67 and 0.59, respectively. CONCLUSION: To sum up, the current study displays possible role of calcium related genes and lncRNAs in the development of ASD.

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16. Rubenstein E, Tewolde S, Levine AA, Droscha L, Meyer RM, Michals A, Skotko B. Medicare, Medicaid, and dual enrollment for adults with intellectual and developmental disabilities. Health Serv Res;2024 (Jan 24)

OBJECTIVE: Given high rates of un- and underemployment among disabled people, adults with intellectual and developmental disabilities rely on Medicaid, Medicare, or both to pay for healthcare. Many disabled adults are Medicare eligible before the age of 65 but little is known as to why some receive Medicare services while others do not. We described the duration of Medicare enrollment for adults with intellectual and developmental disabilities in 2019 and then compared demographics by enrollment type (Medicare-only, Medicaid-only, dual-enrolled). Additionally, we examined the percent in each enrollment type by state, and differences in enrollment type for those with Down syndrome. DATA SOURCES AND STUDY SETTING: 2019 Medicare and Medicaid claims data for all adults (≥18 years) in the US with claim codes for intellectual disability, Down syndrome, or autism at any time between 2011 and 2019. STUDY DESIGN: Administrative claims cohort. DATA COLLECTION AND ABSTRACTION METHODS: Data were from the Transformed Medicaid Statistical Information System Analytic Files and Medicare Beneficiary Summary files. PRINCIPLE FINDINGS: In 2019, Medicare insured 582,868 adults with identified intellectual disability, autism, or Down syndrome. Of 582,868 Medicare beneficiaries, 149,172 were Medicare only and 433,396 were dual-enrolled. Most Medicare enrollees were enrolled as child dependents (61.5%) Medicaid-only enrollees (N = 819,256) were less likely to be white non-Hispanic (58.5% white non-Hispanic vs. 72.9% white non-Hispanic in dual-enrolled), more likely to be Hispanic (19.6% Hispanic vs. 9.2% Hispanic in dual-enrolled) and were younger (mean 34.2 years vs. 50.5 years dual-enrolled). CONCLUSION: There is heterogeneity in public insurance enrollment which is associated with state and disability type. Action is needed to ensure all are insured in the program that works for their healthcare needs.

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17. Vieira MM, Peng S, Won S, Hong E, Inati SK, Thurm A, Thiam AH, Kim S, Myers SJ, Badger JD, 2nd, Traynelis SF, Lu W, Roche KW. A Frameshift Variant of GluN2A Identified in an Epilepsy Patient Results in NMDA Receptor Mistargeting. J Neurosci;2024 (Jan 24);44(4)

N-methyl-D-aspartate receptors (NMDARs) are crucial for neuronal development and synaptic plasticity. Dysfunction of NMDARs is associated with multiple neurodevelopmental disorders, including epilepsy, autism spectrum disorder, and intellectual disability. Understanding the impact of genetic variants of NMDAR subunits can shed light on the mechanisms of disease. Here, we characterized the functional implications of a de novo mutation of the GluN2A subunit (P1199Rfs*32) resulting in the truncation of the C-terminal domain. The variant was identified in a male patient with epileptic encephalopathy, multiple seizure types, severe aphasia, and neurobehavioral changes. Given the known role of the CTD in NMDAR trafficking, we examined changes in receptor localization and abundance at the postsynaptic membrane using a combination of molecular assays in heterologous cells and rat primary neuronal cultures. We observed that the GluN2A P1199Rfs*32-containing receptors traffic efficiently to the postsynaptic membrane but have increased extra-synaptic expression relative to WT GluN2A-containing NMDARs. Using in silico predictions, we hypothesized that the mutant would lose all PDZ interactions, except for the recycling protein Scribble1. Indeed, we observed impaired binding to the scaffolding protein postsynaptic protein-95 (PSD-95); however, we found the mutant interacts with Scribble1, which facilitates the recycling of both the mutant and the WT GluN2A. Finally, we found that neurons expressing GluN2A P1199Rfs*32 have fewer synapses and decreased spine density, indicating compromised synaptic transmission in these neurons. Overall, our data show that GluN2A P1199Rfs*32 is a loss-of-function variant with altered membrane localization in neurons and provide mechanistic insight into disease etiology.

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18. Yang W, Han Y, He C, Zhong S, Ren F, Chen Z, Mou Y, Sai K. Association between psychiatric disorders and glioma risk: evidence from Mendelian randomization analysis. BMC Cancer;2024 (Jan 23);24(1):118.

BACKGROUND: Observational studies have explored the association of psychiatric disorders and the risk of brain cancers. However, the causal effect of specific mental illness on glioma remains elusive due to the lack of solid evidence. METHODS: We performed a two-sample bidirectional Mendelian randomization (MR) analysis to explore the causal relationships between 5 common psychiatric disorders (schizophrenia, major depressive disorder, bipolar disorder, autism spectrum disorder, and panic disorder) and glioma. Summary statistics for psychiatric disorders and glioma were extracted from Psychiatric Genomics Consortium (PGC) and 8 genome-wide association study (GWAS) datasets respectively. We calculated the MR estimates for odds ratio of glioma associated with each psychiatric disorder by using inverse-variance weighting (IVW) method. Sensitivity analyses such as weighted median estimator, MR-Egger and MR-PRESSO were leveraged to assess the strength of causal inference. RESULTS: A total of 30,657 participants of European ancestry were included in this study. After correction for multiple testing, we found that genetically predicted schizophrenia was associated with a statistically significant increase in odds of non-glioblastoma multiforme (non-GBM) (OR = 1.13, 95% CI: 1.03-1.23, P = 0.0096). There is little evidence for the causal relationships between the other 4 psychiatric disorders with the risk of glioma. CONCLUSIONS: In this MR analysis, we revealed an increased risk of non-GBM glioma in individuals with schizophrenia, which gives an insight into the etiology of glioma.

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19. Yousef BM, Bhaskar Raj N, Nadiah WA, Dhas BN, Mansour AM, Abd Alhadi SA, Rosal FV, Dizon MM. Integrated Life Skills Training and Executive Function Strategies in Children With Autism Spectrum Disorder in Qatar: A Pilot Study of a Randomized Controlled Trial. Cureus;2024 (Jan);16(1):e52809.

Background and aim Executive function (EF) impairment is common in children with autism spectrum disorder (ASD). EF strategies are considered effective in improving the therapeutic outcomes of children with ASD. This study primarily aimed to explore whether integrating EF strategies combined with regular occupational therapy intervention is more effective in improving daily life skills (DLS) and sensory integration/processing (SI/SP) skills than regular occupational therapy alone in children with ASD and secondarily aims to assess treatment outcomes on improving visual motor integration (VMI) skills. Methods A total of 17 participants (13 males, mean age 4.29 years, standard deviation 0.66) completed the study. Following the baseline assessments, the participants were randomly assigned to the treatment group (45-minute once-weekly individual occupational therapy plus EF strategies) or control group (45-minute once-weekly individual therapy sessions alone). All participants received one intervention per week for 14 weeks. All children were systematically evaluated using a pediatric functional independent measure (WeeFIM) and the Verbal Behavior Milestones Assessment and Placement Program (VB-MAPP) to assess DLS, the Short Sensory Profile 2 (SSP2) to assess SP/SI, and the Beery VMI test (Beery VMI) to assess VMI. Assessments were conducted at baseline, seven weeks, and 14 weeks of treatment. Results The analysis of the results between the treatment and control groups revealed that the treatment group had greater gains and significant differences in the mean values of both the WeeFIM and SSP2. In addition, notable distinctions were observed in the VB-MAPP transition subscale; although these differences did not reach statistical significance, they were clinically significant. Minimal differences were noted in the VMI between the two groups. Nevertheless, both groups showed statistically significant improvements across all outcome measures. Conclusions Our study provides preliminary evidence of the efficacy of EF strategies combined with regular occupational therapy for DLS, SP/SI, and VMI in children with ASD. The differences between the groups support further evaluation of the effectiveness of EF strategies for the next stage of a larger randomized clinical trial.

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