1. Bal VH, Wilkinson E, Glascock V, Hastings RP, Jahoda A. Mechanisms of change in Behavioral Activation: Adapting depression treatment for autistic people. Cognitive and behavioral practice. 2023; 30(4): 589-96.

Despite high rates of co-occurring depression, few studies have developed or adapted treatments targeting depressive symptoms for autistic adults. Behavioral activation is widely accepted as an empirically-supported approach for treating depression in other populations. Careful attention to the mechanisms targeted by behavioral activation is an essential step toward adapting behavioral activation protocols for use with autistic adults. We consider the mechanisms targeted by behavioral activation and provide a framework for research to explore the facilitators and barriers to the use of behavioral activation to treat depression in autistic adults. Drawing upon clinical experience and extant literature, the suggestions presented are aimed at highlighting considerations for clinicians wanting to use behavioral activation programs in their clinical practices with autistic adults and to promote the research needed to establish behavioral activation as an evidence-based practice for treating depression in adults on the autism spectrum.

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2. Bogue D, Ryan G, Wassmer E, Research Consortium GE, Naik S. VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders. Molecular syndromology. 2023; 14(5): 449-56.

INTRODUCTION: VAMP2 is an instrumental protein in neuronal synaptic transmission in the brain, facilitating neurotransmitter release. It is encoded by the VAMP2 gene, and pathogenic variants in this gene cause neurodevelopmental features including early onset axial hypotonia, intellectual disability, and features of autism spectrum disorder. To date, only three types of allelic variants (loss of function, in-frame deletions, and missense variants) in the VAMP2 gene have been previously reported in 11 patients with learning difficulties. Here, we describe a patient in whom a novel de novo pathogenic variant in the VAMP2 gene was identified. CASE PRESENTATION: A 15-month-old girl presented with early onset hypotonia, global developmental delay, learning difficulties, microcephaly, nystagmus, strabismus, and stereotypies. Later, she developed a sleep disorder, challenging behaviour with self-injury, and scoliosis. Gene agnostic analysis of whole genome sequencing data identified a novel de novo heterozygous missense variant c.197G>C (p.Arg66Pro) in the VAMP2 gene SNARE motif region. DISCUSSION: This is the fourth report describing VAMP2 gene-related neurodevelopmental disorder. This report adds to the genotype-phenotype correlation and highlights this condition as an important differential diagnosis of Rett/Angelman-type spectrum of disorders. Patients presenting with features of either Rett syndrome or Angelman syndrome, in whom genetic testing is not suggestive, should be evaluated for variants in the VAMP2 gene, given the significant overlap in clinical presentation of these disorders.

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3. Cho EJ. Clinical Implication (Application) of Measurement of Device Size in Patients With Atrial Septal Defects (ASD) by 3-Dimensional Transesophageal Echocardiography (3D TEE). Journal of cardiovascular imaging. 2023; 31(4): 188-90.

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4. Cohen SR, Wishard Guerra A, Miguel J, Bottema-Beutel K, Oliveira G. Hablando at home: Examining the interactional resources of a bilingual autistic child. Journal of child language. 2023: 1-23.

Daily language interactions predict child outcomes. For multilingual families who rear neurodiverse children and who may be minoritized for their language use, a dearth of research examines families’ daily language interactions. Utilizing a language socialization framework and a case study methodology, 4,991 English and Spanish utterances from a 5-year old autistic child and his family were collected during naturally occurring interactions over 10 days. Utterances were analyzed for patterns of code-switching by speaker, activity setting, English or Spanish initial language, and code-switch function. Spanish was spoken in most activities. For reading, both languages were equally employed by the father. While participants used both languages across all activity settings, significant variations in code-switching type and function were observed by activity setting and speaker. We discuss implications for how home language resources can be integrated into autism interventions.

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5. Day F, O’Sullivan J, Pook C. 4-Ethylphenol-fluxes, metabolism and excretion of a gut microbiome derived neuromodulator implicated in autism. Frontiers in molecular biosciences. 2023; 10: 1267754.

Gut-microbiome-derived metabolites, such as 4-Ethylphenol [4EP], have been shown to modulate neurological health and function. Although the source of such metabolites is becoming better understood, knowledge gaps remain as to the mechanisms by which they enter host circulation, how they are transported in the body, how they are metabolised and excreted, and the way they exert their effects. High blood concentrations of host-modified 4EP, 4-ethylphenol sulfate [4EPS], are associated with an anxiety phenotype in autistic individuals. We have reviewed the existing literature and discuss mechanisms that are proposed to contribute influx from the gut microbiome, metabolism, and excretion of 4EP. We note that increased intestinal permeability is common in autistic individuals, potentially explaining increased flux of 4EP and/or 4EPS across the gut epithelium and the Blood Brain Barrier [BBB]. Similarly, kidney dysfunction, another complication observed in autistic individuals, impacts clearance of 4EP and its derivatives from circulation. Evidence indicates that accumulation of 4EPS in the brain of mice affects connectivity between subregions, particularly those linked to anxiety. However, we found no data on the presence or quantity of 4EP and/or 4EPS in human brains, irrespective of neurological status, likely due to challenges sampling this organ. We argue that the penetrative ability of 4EP is dependent on its form at the BBB and its physicochemical similarity to endogenous metabolites with dedicated active transport mechanisms across the BBB. We conclude that future research should focus on physical (e.g., ingestion of sorbents) or metabolic mechanisms (e.g., conversion to 4EP-glucuronide) that are capable of being used as interventions to reduce the flux of 4EP from the gut into the body, increase the efflux of 4EP and/or 4EPS from the brain, or increase excretion from the kidneys as a means of addressing the neurological impacts of 4EP.

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6. Gignac GE, Palermo R, Bothe E, Walker DL, Wilmer JB. Face perception and facial emotional expression recognition ability: Both unique predictors of the broader autism phenotype. Quarterly journal of experimental psychology (2006). 2023: 17470218231203679.

Autism spectrum disorder (ASD) and the broader autistic phenotype (BAP) have been suggested to be associated with perceptual-cognitive difficulties processing human faces. However, the empirical results are mixed, arguably, in part due to inadequate samples and analyses. Consequently, we administered the Cambridge Face Perception Test (CFPT), the Reading the Mind in the Eyes Test (RMET), a vocabulary test, and the Autism Quotient (AQ) to a sample of 318 adults in the general community. Based on a disattenuated path analytic modelling strategy, we found that both face perception ability (β = -.21) and facial emotional expression recognition ability (β = -.27) predicted uniquely and significantly the Communication dimension of AQ. Vocabulary failed to yield a significant, direct effect onto the Communication dimension of the AQ. We conclude that difficulties perceiving information from the faces of others may contribute to difficulties in nonverbal communication, as conceptualised and measured within the context of BAP.

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7. González León N, González-Olguín A. [Motor intervention strategies on postural control in children and youth with autism spectrum disorder: A systematic review]. Rehabilitacion. 2023; 58(1): 100820.

Autism spectrum disorder (ASD) has varied characteristics with an impact at the social, communicative and sensorimotor (SM) level. An SM feature is postural control (PC) problems. There are various motor intervention strategies (MIS), but the benefit over LC is something that has been analyzed less extensively. The objective was to describe the MIS and its results on the PC of children and adolescents with ASD. A search of PubMed, Scopus, Web of Science and Cochrane was performed. A total of eight articles met the eligibility criteria. All MIS showed beneficial results on the improvement of PC. The MIS were of a varied nature (dance practice, personalized physical activity, video games, Tai Chi Chuan, Taekwondo and virtual reality). It is necessary to improve the designs and consider the risks of bias, since they limit the scope of the results.

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8. Huang X, Ming Y, Zhao W, Feng R, Zhou Y, Wu L, Wang J, Xiao J, Li L, Shan X, Cao J, Kang X, Chen H, Duan X. Developmental prediction modeling based on diffusion tensor imaging uncovering age-dependent heterogeneity in early childhood autistic brain. Molecular autism. 2023; 14(1): 41.

OBJECTIVE: There has been increasing evidence for atypical white matter (WM) microstructure in autistic people, but findings have been divergent. The development of autistic people in early childhood is clouded by the concurrently rapid brain growth, which might lead to the inconsistent findings of atypical WM microstructure in autism. Here, we aimed to reveal the developmental nature of autistic children and delineate atypical WM microstructure throughout early childhood while taking developmental considerations into account. METHOD: In this study, diffusion tensor imaging was acquired from two independent cohorts, containing 91 autistic children and 100 typically developing children (TDC), aged 4-7 years. Developmental prediction modeling using support vector regression based on TDC participants was conducted to estimate the WM atypical development index of autistic children. Then, subgroups of autistic children were identified by using the k-means clustering method and were compared to each other on the basis of demographic information, WM atypical development index, and autistic trait by using two-sample t-test. Relationship of the WM atypical development index with age was estimated by using partial correlation. Furthermore, we performed threshold-free cluster enhancement-based two-sample t-test for the group comparison in WM microstructures of each subgroup of autistic children with the rematched subsets of TDC. RESULTS: We clustered autistic children into two subgroups according to WM atypical development index. The two subgroups exhibited distinct developmental stages and age-dependent diversity. WM atypical development index was found negatively associated with age. Moreover, an inverse pattern of atypical WM microstructures and different clinical manifestations in the two stages, with subgroup 1 showing overgrowth with low level of autistic traits and subgroup 2 exhibiting delayed maturation with high level of autistic traits, were revealed. CONCLUSION: This study illustrated age-dependent heterogeneity in early childhood autistic children and delineated developmental stage-specific difference that ranged from an overgrowth pattern to a delayed pattern. Trial registration This study has been registered at ClinicalTrials.gov (Identifier: NCT02807766) on June 21, 2016 ( https://clinicaltrials.gov/ct2/show/NCT02807766 ).

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9. Jeong HI, Kim SG, Youn H, Lee J, Lee SI. A Pilot Study on the Validity and Reliability of Korean School Readiness Inventory on Children With Autism Spectrum Disorder. Psychiatry investigation. 2023; 20(10): 940-5.

OBJECTIVE: Successful transition to school is of great importance to children with autism spectrum disorder (ASD). The purpose of this study was to develop a school readiness inventory for Korean children with ASD, and demonstrate its content validity and reliability. METHODS: The Korean School Readiness Inventory (K-SRI) was developed to assess current levels of some fundamental skills needed for attending school for children with ASD. The K-SRI was comprised of four subscales and 16 test items: Self-help skills, Social and emotional development, School behavior, and Literacy and numeracy skills. For content validity, six experts rated the validity of the test items. Lawshe’s Content Validity Ratio (CVR) was calculated. For reliability, parents of 22 children with ASD entering school completed the KSRI twice. Cronbach’s alpha coefficient was calculated for internal consistency. The test-retest reliability was assessed using the intraclass correlation coefficient (ICC). RESULTS: All the items except two items in the literacy and numeracy skills did not show a CVR of 1. The two items were deleted resulting in a 14-item inventory. The Cronbach’s alpha coefficient of the K-SRI was 0.93, showing good internal consistency reliability. The test- retest reliability results showed ICC value of 0.93 (p<0.001), which indicates good stability. CONCLUSION: A parent-rated, 14-item school readiness inventory for Korean children with ASD were developed and preliminary evidence of its content validity and reliability were demonstrated in this study. The present study provides a basis for future studies that would further help evaluate and promote school readiness of the children with ASD.

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10. Mahar AL, Biggs K, Hansford RL, Derksen S, Griffiths R, Enns JE, Dawe DE, Hallet J, Kristjanson M, Decker K, Cobigo V, Shooshtari S, Stirling M, Kelly C, Brownell M, Turner D, Ouellette-Kuntz H. Stage IV breast, colorectal, and lung cancer at diagnosis in adults living with intellectual or developmental disabilities: A population-based cross-sectional study. Cancer. 2023.

BACKGROUND: Cancer is a leading cause of death among people living with intellectual or developmental disabilities (IDD). Although studies have documented lower cancer screening rates, there is limited epidemiological evidence quantifying potential diagnostic delays. This study explores the risk of metastatic cancer stage for people with IDD compared to those without IDD among breast (female), colorectal, and lung cancer patients in Canada. METHODS: Separate population-based cross-sectional studies were conducted in Ontario and Manitoba by linking routinely collected data. Breast (female), colorectal, and lung cancer patients were included (Manitoba: 2004-2017; Ontario: 2007-2019). IDD status was identified using established administrative algorithms. Modified Poisson regression with robust error variance models estimated associations between IDD status and the likelihood of being diagnosed with metastatic cancer. Adjusted relative risks were pooled between provinces using random-effects meta-analyses. Potential effect modification was considered. RESULTS: The final cohorts included 115,456, 89,815, and 101,811 breast (female), colorectal, and lung cancer patients, respectively. Breast (female) and colorectal cancer patients with IDD were 1.60 and 1.44 times more likely to have metastatic cancer (stage IV) at diagnosis compared to those without IDD (relative risk [RR], 1.60; 95% confidence interval [CI], 1.16-2.20; RR, 1.44; 95% CI, 1.24-1.67). This increased risk was not observed in lung cancer. Significant effect modification was not observed. CONCLUSIONS: People with IDD were more likely to have stage IV breast and colorectal cancer identified at diagnosis compared to those without IDD. Identifying factors and processes contributing to stage disparities such as lower screening rates and developing strategies to address diagnostic delays is critical.

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11. Mani A, Harikrishnan S, Sasidharan B, Ganapathi S, Valaparambil AK. Utility of 3D Echocardiography for Device Sizing During Transcatheter ASD Closure: A Comparative Study. Journal of cardiovascular imaging. 2023; 31(4): 180-7.

BACKGROUND: Two-dimensional (2D) transesophageal echocardiography (TEE) is commonly used for assessing patients undergoing transcatheter atrial septal defect (ASD) device closure. 3D TEE, albeit providing high resolution en-face images of ASD, is used in only a fraction of cases. We aimed to perform a comparative analysis between 3D and 2D TEE assessment for ASD device planning. METHODS: This was a prospective, observational study conducted over a period of one year. Patients deemed suitable for device closure underwent 2D and 3D TEE at baseline. Defect characteristics, assessed separately in both modalities, were compared. Using regression analysis, we aimed to derive an equation for predicting device size using 3D TEE parameters. RESULTS: Thirty patients were included in the study, majority being females (83%). The mean age of the study population was 40.5 ± 12.05 years. Chest pain, dyspnea and palpitations were the common presenting complaints. All patients had suitable rims on 2D TEE. A good agreement was noted between 2D and 3D TEE for measured ASD diameters. 3D TEE showed that majority of defects were circular in shape (60%). The final device size used had high degree of correlation with 3D defect area and circumference. An equation was devised to predict device size using 3D defect area and circumference. The mean device size obtained from the equation was similar to the actual device size used in the study population (p = 0.31). CONCLUSIONS: Device sizing based on 3D TEE parameters alone is equally effective for transcatheter ASD closure as compared to 2D TEE.

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12. Micai M, Fatta LM, Gila L, Caruso A, Salvitti T, Fulceri F, Ciaramella A, D’Amico R, Del Giovane C, Bertelli M, Romano G, Schünemann HJ, Scattoni ML. Prevalence of co-occurring conditions in children and adults with autism spectrum disorder: A systematic review and meta-analysis. Neuroscience and biobehavioral reviews. 2023: 105436.

This systematic review estimates the prevalence of co-occurring conditions (CCs) in children and adults with autism. A comprehensive search strategy consulting existing guidelines, diagnostic manuals, experts, carers, and autistic people was developed. PubMed and PsycInfo databases from inception to May 2022 were searched. PROSPERO registration: CRD42019132347. Two blind authors screened and extracted the data. Prevalence estimates for different CCs were summarized by using random effects models. Subgroup analyses were performed for age groups (children/adolescents vs adults) and study designs (population/registry-based vs clinical sample-based). Of 19,932 studies, 340 publications with about 590,000 participants were included and meta-analyzed to estimate the prevalence of 38-point prevalence, 27-lifetime, and 3 without distinction between point and lifetime prevalence. Point prevalence of developmental coordination disorder, sleep-wake problem, gastrointestinal problem, ADHD, anxiety disorder, overweight/obesity, feeding and eating disorder, elimination disorder, disruptive behavior, and somatic symptoms and related disorder were the most frequent CCs. Prevalence differed depending on the age group and study design. Knowing specific CCs linked to autism helps professional investigations and interventions for improved outcomes.

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13. Uzunyayla-Inci G, Kiykim E, Zubarioglu T, Yesil G, Aktuglu Zeybek C. Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11. Molecular syndromology. 2023; 14(5): 428-32.

BACKGROUND: Autism spectrum disorder (ASD) is used to describe individuals with a specific combination of disorders in social communication and repetitive behaviors, highly restricted interests, and/or sensory behavior that begin early in life. The prevalence of ASD has been increasing rapidly in recent years. Pathophysiology of ASDs remains still unclear; however, genetic defects and multifactorial causes have been reported to play an important role in genetic disorders. The prevalence of inborn errors of metabolism (IEM) reported among patients with ASD is 2-5%. The clinical presentation of congenital disorders of glycosylation (CDG) may be in the form of psychiatric disorder only. CASE STUDY: Case 1: a 5-year-old female patient was admitted for investigation of ASD. She had a dysmorphic facial appearance, inverted nipples, abnormal fat distribution, ataxic gait, and autistic features. Her transferrin isoelectric focusing test was compatible with a type 1 CDG pattern. A homozygous variant in ALG8 gene revealed the diagnosis of ALG8-CDG (CDG Type 1H). Case 2: a 2-year-old male patient was admitted with complaints of ASD for investigation of an underlying IEM due to speech delay. Physical examination revealed hypertelorism, small hands, and autistic behavior. Transferrin isoelectric focusing test was also found normal. As a result of the WES, a homozygous variant was detected in ALG11 confirming the diagnosis of CDG type 1p. CONCLUSION: CDG should also be considered in the differential diagnosis of autistic patients with dysmorphic findings. The aim of our study was to emphasize that autism should be listed among the neurological findings of CDG.

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14. Yang X, Yang L, Zhang T, Zhang H, Chen H, Zuo X. Causal atlas between inflammatory bowel disease and mental disorders: a bi-directional 2-sample Mendelian randomization study. Frontiers in immunology. 2023; 14: 1267834.

BACKGROUND: The brain-gut axis link has attracted increasing attention, with observational studies suggesting that the relationship between common mental disorders and inflammatory bowel disease (IBD) may run in both directions. However, so far, it is not clear whether there is causality and in which direction. METHODS: We conducted a bidirectional 2-sample Mendelian randomization study to investigate the relationship between IBD, including Crohn’s disease (CD) and ulcerative colitis (UC), and mental disorders, using summary-level GWAS data. The main analysis was the inverse variance weighted method. IBD (including CD and UC), and nine mental disorders were used as both exposures and outcomes. RESULTS: We found that UC could significantly lead to obsessive-compulsive disorder, attention deficit hyperactivity disorder, and autism spectrum disorder, with odds ratio (OR) of 1.245 (95% confidence intervals [CI]: 1.069-1.450; P=0.008), 1.050 (95%CI: 1.023-1.077; P=2.42×10(-4)), and 1.041 (95%CI: 1.015-1.068; P=0.002) respectively. In addition, we found that bipolar disorder and schizophrenia could increase the odds of IBD, with OR values of 1.138 (95%CI: 1.084-1.194; P=1.9×10(-7)), and 1.115 (95%CI: 1.071-1.161; P=1.12×10(-7)), respectively. Our results also indicate that obsessive-compulsive disorder could lead to IBD, especially for UC, with OR values of 1.091 (95%CI: 1.024-1.162; P=0.009), and 1.124 (95%CI: 1.041-1.214; P=0.004), respectively. CONCLUSIONS: Our findings indicate that the brain-gut axis involves the association between IBD, especially UC, and some mental disorders, which guides the targeted prevention, management, and mechanism exploration of these diseases.

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