1. Agelink van Rentergem JA, Deserno MK, Geurts HM. Validation strategies for subtypes in psychiatry: A systematic review of research on autism spectrum disorder. Clinical psychology review. 2021; 87: 102033.

Heterogeneity within autism spectrum disorder (ASD) is recognized as a challenge to both biological and psychological research, as well as clinical practice. To reduce unexplained heterogeneity, subtyping techniques are often used to establish more homogeneous subtypes based on metrics of similarity and dissimilarity between people. We review the ASD literature to create a systematic overview of the subtyping procedures and subtype validation techniques that are used in this field. We conducted a systematic review of 156 articles (2001-June 2020) that subtyped participants (range N of studies = 17-20,658), of which some or all had an ASD diagnosis. We found a large diversity in (parametric and non-parametric) methods and (biological, psychological, demographic) variables used to establish subtypes. The majority of studies validated their subtype results using variables that were measured concurrently, but were not included in the subtyping procedure. Other investigations into subtypes’ validity were rarer. In order to advance clinical research and the theoretical and clinical usefulness of identified subtypes, we propose a structured approach and present the SUbtyping VAlidation Checklist (SUVAC), a checklist for validating subtyping results.

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2. Chezan LC, Liu J, Cholewicki JM, Drasgow E, Ding R, Warman A. A Psychometric Evaluation of the Quality of Life for Children with Autism Spectrum Disorder Scale. Journal of autism and developmental disorders. 2022; 52(4): 1536-52.

Our purpose in this study was to validate the Quality of Life for Children with Autism Spectrum Disorder scale. We first conducted an exploratory factor analysis to examine the factor structure. Results suggested that a three-factor model (Interpersonal Relationships, Self-Determination, and Emotional Well-Being) should be retained. Next, we conducted a confirmatory factor analysis to compare a higher-order factor model and additional models. Results showed acceptable model fit for the higher-order factor model. The scale had excellent reliability (α = .90) for the overall scale and for the three subscales (Interpersonal Relationships, α = .87; Self-Determination, α = .81; and Emotional Well-Being, α = .66). The 16-item scale showed convergent and divergent validity. Implications for future research and practice are discussed.

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3. Edmunds SR, Colman C, Vidal P, Faja S. Brief Report: Examining the Links Between Language Processes and Working Memory Impairments in Toddlers and Preschoolers with ASD. Journal of autism and developmental disorders. 2022; 52(4): 1872-80.

Deficits in working memory have not been fully explored in toddlers and preschoolers with autism spectrum disorder (ASD). We investigated the relationship between language (verbal ability, verbal self-talk) and visuospatial working memory in 2- and 4-year-olds with ASD (n = 65) and typical development (TD) (n = 54). Children with ASD displayed impairments in working memory and verbal ability, but not verbal self-talk, compared to TD peers. Verbal ability and working memory were positively correlated; this association was stronger for children with ASD. For 2-year-olds, self-talk and working memory were negatively correlated. Results suggest that verbal ability and working memory are linked, especially for young children with ASD. Self-talk may be a compensatory strategy for toddlers with less developed working memory.

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4. Escher J. How family histories can inform research about germ cell exposures: the example of autism. Biology of reproduction. 2021; 105(3): 767-73.

Throughout the scientific literature, heritable traits are routinely presumed to be genetic in origin. However, as emerging evidence from the realms of genetic toxicology and epigenomics demonstrate, heritability may be better understood as encompassing not only DNA sequence passed down through generations, but also disruptions to the parental germ cells causing de novo mutations or epigenetic alterations, with subsequent shifts in gene expression and functions in offspring. The Beyond Genes conference highlighted advances in understanding these aspects at molecular, experimental, and epidemiological levels. In this commentary I suggest that future research on this topic could be inspired by collecting parents’ germ cell exposure histories, with particular attention to cases of families with multiple children suffering idiopathic disorders. In so doing I focus on the endpoint of autism spectrum disorders (ASDs). Rates of this serious neurodevelopment disability have climbed around the world, a growing crisis that cannot be explained by diagnostic shifts. ASD’s strong heritability has prompted a research program largely focused on DNA sequencing to locate rare and common variants, but decades of this gene-focused research have revealed surprisingly little about the molecular origins of the disorder. Based on my experience as the mother of two children with idiopathic autism, and as a research philanthropist and autism advocate, I suggest ways researchers might probe parental germ cell exposure histories to develop new hypotheses that may ultimately reveal sources of nongenetic heritability in a subset of idiopathic heritable pathologies.

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5. Harrop C, Sterrett K, Shih W, Landa R, Kaiser A, Kasari C. Short-term trajectories of restricted and repetitive behaviors in minimally verbal children with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2021; 14(8): 1789-99.

Very little is known about the 30% of children with Autism Spectrum Disorder (ASD) who remain minimally verbal when they enter school. Restricted and repetitive behaviors (RRBs) are well-characterized in younger, preschool, and toddler samples. However, the prevalence and impact of RRBs has not been characterized in older, minimally verbal children. The goal of this study was to characterize this core diagnostic feature in minimally verbal children with ASD ages 5-8 years over a 9-month period to better understand how these behaviors manifest in this crucially understudied population. RRBs were coded from caregiver-child interactions (CCX) at four timepoints. Upon entry into the study, children demonstrated an average of 17 RRBs during a 10-min CCX. The most common category was Verbal. RRBs remained constant over 6 months; however, a slight reduction was observed at the final timepoint. Compared to prior literature on younger samples, minimally verbal children with ASD demonstrated higher rates of RRBs and higher rates of verbal RRBs. Further work is required to understand the function and impact of RRBs in minimally verbal children. LAY ABSTRACT: Approximately one-third of children with autism spectrum disorder (ASD) remain minimally verbal at the time of school entry. In this study, we sought to characterize the presence of restricted and repetitive behaviors (RRBs) in school-aged children (5-8) who were minimally verbal. Compared to prior studies, minimally verbal children with ASD had higher frequencies of RRBs and demonstrated a different profile of behaviors, including more verbal RRBs.

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6. Kavanaugh BC, Schremp CA, Jones RN, Best CR, Sheinkopf SJ, Morrow EM. Moderators of Age of Diagnosis in > 20,000 Females with Autism in Two Large US Studies. Journal of autism and developmental disorders. 2021.

The objective of this study was to determine the clinical features that moderate a later age at ASD diagnosis in females in a large sample of females with ASD. Within two large and independent ASD datasets (> 20,000 females), females were first diagnosed with ASD 14-months later relative to males. This later age at diagnosis was moderated by a mild or atypical presentation, wherein repetitive behaviors were limited, IQ and language were broadly intact, and recognized symptoms emerged later in development. Females are at risk for a later age at ASD diagnosis and treatment implementation, and modification of early childhood ASD screening methods for females may be warranted.

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7. Kumar A, Sakakura K, Mitsuhashi T, Railean A, Luat AF. Alteration of the Arcuate Fasciculus in Jacobsen Syndrome Shown by Diffusion Tensor Imaging. Pediatric neurology. 2021; 120: 4-6.

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8. Maruo Y, Uetake K, Egawa K, Shiraishi H. Selective Eating in Autism Spectrum Disorder Leading to Hair Color Change. Pediatric neurology. 2021; 120: 1-2.

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9. May BK, Britwum K, Nicol GE. Improving Beverage Choice in Adults with Developmental Disabilities: Implementation of a Token Reinforcement System in a Community Residential Setting. Journal of autism and developmental disorders. 2022; 52(4): 1523-35.

Individuals with developmental disabilities (DD) are twice as likely to have obesity than non-disabled individuals. Replacing the consumption of sugar sweetened beverages (SSBs) with water has many health benefits, including weight reduction. In this study, a token reinforcement system was implemented to increase water consumption and decrease the consumption of SSBs with 14 adult participants with DD living in a community-based independent supported living (ISL) center. Token reinforcement reduced the consumption of SSBs, with associated reductions in calorie consumption and body weight. Findings are especially important for treatment settings where resources for individualized meal planning and staffing to support comprehensive behavioral interventions may be limited.

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10. Ning M, Li C, Gao L, Fan J. Core-Symptom-Defined Cortical Gyrification Differences in Autism Spectrum Disorder. Frontiers in psychiatry. 2021; 12: 619367.

Autism spectrum disorder (ASD) is a heterogeneous disease that is characterized by abnormalities in social communication and interaction as well as repetitive behaviors and restricted interests. Structural brain imaging has identified significant cortical folding alterations in ASD; however, relatively less known is whether the core symptoms are related to neuroanatomical differences. In this study, we aimed to explore core-symptom-anchored gyrification alterations and their developmental trajectories in ASD. We measured the cortical vertex-wise gyrification index (GI) in 321 patients with ASD (aged 7-39 years) and 350 typically developing (TD) subjects (aged 6-33 years) across 8 sites from the Autism Brain Imaging Data Exchange I (ABIDE I) repository and a longitudinal sample (14 ASD and 7 TD, aged 9-14 years in baseline and 12-18 years in follow-up) from ABIDE II. Compared with TD, the general ASD patients exhibited a mixed pattern of both hypo- and hyper- and different developmental trajectories of gyrification. By parsing the ASD patients into three subgroups based on the subscores of the Autism Diagnostic Interview-Revised (ADI-R) scale, we identified core-symptom-specific alterations in the reciprocal social interaction (RSI), communication abnormalities (CA), and restricted, repetitive, and stereotyped patterns of behavior (RRSB) subgroups. We also showed atypical gyrification patterns and developmental trajectories in the subgroups. Furthermore, we conducted a meta-analysis to locate the core-symptom-anchored brain regions (circuits). In summary, the current study shows that ASD is associated with abnormal cortical folding patterns. Core-symptom-based classification can find more subtle changes in gyrification. These results suggest that cortical folding pattern encodes changes in symptom dimensions, which promotes the understanding of neuroanatomical basis, and clinical utility in ASD.

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11. Olson A, Zhang F, Cao H, Baranova A, Slavin M. In silico Gene Set and Pathway Enrichment Analyses Highlight Involvement of Ion Transport in Cholinergic Pathways in Autism: Rationale for Nutritional Intervention. Frontiers in neuroscience. 2021; 15: 648410.

Food is the primary human source of choline, an essential precursor to the neurotransmitter acetylcholine, which has a central role in signaling pathways that govern sensorimotor functions. Most Americans do not consume their recommended amount of dietary choline, and populations with neurodevelopmental conditions like autism spectrum disorder (ASD) may be particularly vulnerable to consequences of choline deficiency. This study aimed to identify a relationship between ASD and cholinergic signaling through gene set enrichment analysis and interrogation of existing database evidence to produce a systems biology model. In gene set enrichment analysis, two gene ontologies were identified as overlapping for autism-related and for cholinergic pathways-related functions, both involving ion transport regulation. Subsequent modeling of ion transport intensive cholinergic signaling pathways highlighted the importance of two genes with autism-associated variants: GABBR1, which codes for the gamma aminobutyric acid receptor (GABA(B) (1)), and KCNN2, which codes for calcium-activated, potassium ion transporting SK2 channels responsible for membrane repolarization after cholinergic binding/signal transmission events. Cholinergic signal transmission pathways related to these proteins were examined in the Pathway Studio environment. The ion transport ontological associations indicated feasibility of a dietary choline support as a low-risk therapeutic intervention capable of modulating cholinergic sensory signaling in autism. Further research at the intersection of dietary status and sensory function in autism is warranted.

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12. O’Reilly H, Ni Y, Johnson S, Wolke D, Marlow N. Extremely preterm birth and autistic traits in young adulthood: the EPICure study. Molecular autism. 2021; 12(1): 30.

BACKGROUND: A high prevalence of autism spectrum disorder is reported in children born extremely preterm (EP), but an even larger proportion of survivors are affected by subclinical difficulties than meet diagnostic criteria. The aims of this study were to investigate autistic traits associated with the broader autism phenotype in a cohort of young adults born EP, and explore how these traits relate to emotion recognition, empathy and autism symptom presentation in childhood. The prevalence of autism diagnoses was also investigated. METHODS: One hundred and twenty-nine young adults born before 26 weeks of gestation and 65 term-born controls participated in the 19-year follow-up phase of the EPICure studies. In addition to a clinical interview, participants completed the Broader Autism Phenotype Questionnaire (BAPQ), the Empathy Quotient questionnaire, and the Frankfurt Test and Training of Facial Affect Recognition. The Social Communication Questionnaire (SCQ) was completed by the participants’ parents at age 11 years. RESULTS: EP born young adults scored significantly higher on the BAPQ in comparison with their term-born peers, indicating greater autistic traits. Among EP participants, BAPQ scores were correlated with SCQ scores in childhood (r = 0.484, p < 0.001). EP young adults had significantly lower scores in emotion recognition and empathy in comparison with controls; however, this effect was mediated by IQ. At 19 years, a diagnosis of autism was reported by 10% of EP participants versus 1.6% of controls, whereas 31% of EP participants scored above the cut-off for the broader autism phenotype in comparison with 8.5% of term-born controls. LIMITATIONS: The high attrition of EP participants from lower socio-economic backgrounds and with lower cognitive functioning may have led to an underrepresentation of those presenting with difficulties associated with autism. CONCLUSIONS: A larger proportion of EP survivors are affected by difficulties associated with autism than have confirmed diagnoses, with a moderate correlation between autism symptom scores in childhood and autistic traits in young adulthood. EP young adults had significantly higher autism symptom scores and a larger proportion had a diagnosis of autism than controls. Screening for autistic traits at set points throughout childhood will help identify those EP individuals at risk of social difficulties who may benefit from intervention.

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13. Parker ML, Mosley MA. Therapy outcomes for neurodiverse couples: Exploring a solution-focused approach. Journal of marital and family therapy. 2021; 47(4): 962-81.

The need for clinical approaches that address romantic relationship concerns of adults with autism spectrum disorder (ASD) has been essentially overlooked. There are a growing number of recommendations in the available literature to increase the availability and evaluation of treatment approaches that are appropriate for couples that include an adult with ASD. The aim of the present study was to explore clinical outcomes of a neurodiverse couple who participated in twelve sessions of solution-focused brief therapy. Our findings indicated both partners experienced improvement in the target complaints, communication and emotional awareness. On the other hand, each partner had a different trajectory of change in relationship satisfaction over the course of treatment. Directions for future research and implications for couple therapy with adults diagnosed with ASD are discussed.

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14. Stark E, Stacey J, Mandy W, Kringelbach ML, Happé F. Autistic Cognition: Charting Routes to Anxiety. Trends in cognitive sciences. 2021; 25(7): 571-81.

Autism Spectrum Conditions are typified by a divergence in cognitive style from that of the non-autistic population. Cognitive differences in autism may underlie significant strengths, but also increase vulnerability to psychopathology such as anxiety, which is a major problem for many autistic people. Many autistic people also do not respond to typical psychotherapeutic interventions, suggesting that autism-specific models and interventions are needed. We advance a theoretical model explaining how three constructs, attenuated predictions, intolerance of uncertainty, and ‘black and white thinking’, may interact to lead to anxiety in autism. We hope to start a dialogue surrounding how we can best address specific autistic cognitive differences that may lead to distress by developing appropriate models, measurements, and psychotherapeutic interventions.

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15. Weber S, Williams-Arya P, Bowers K, Wamsley F, Doarn CR, Smith J. Effectiveness of Interdisciplinary Leadership Training for Early Career Professionals in the Field of Developmental Disabilities. Maternal and child health journal. 2021; 25(7): 1036-42.

INTRODUCTION: The purpose of this paper is to describe the curriculum and self-reported outcomes on measures of interdisciplinary leadership skills for work within the field of developmental disabilities from trainees in one interprofessional training program. METHODS: The paper highlights one program’s curriculum and strategy for capturing self-report survey measures from trainees in cohorts from 2014-2018 (n = 86) on two surveys (Interdisciplinary Attitudes and Skills and Leadership Self-Evaluation Form) and three time points across the training year: before training (T1), mid-year (T2), and after training (T3). RESULTS: Data from 86 trainees are reported including demographics (nearly 80% white, 92% female), non-descriptive statistics due to non-normative samples, and tertiles demonstrating changes between time points. Significant differences between medians are reported between T1-T3 specifically related to utilizing interdisciplinary skills and gains in leadership competencies. Specific utilization of skills was reported to be ‘Greatly’ attributable to the LEND program related to sharing ideas and asking for help across disciplines. DISCUSSION: Trainees’ self-report from before training to after training indicates an increase in competence and utilization of interdisciplinary skills to be expected from participation in the curriculum. Self-report measures are.

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16. Zeng H, Liu S, Huang R, Zhou Y, Tang J, Xie J, Chen P, Yang BX. Effect of the TEACCH program on the rehabilitation of preschool children with autistic spectrum disorder: A randomized controlled trial. Journal of psychiatric research. 2021; 138: 420-7.

OBJECTIVES: This study aimed to explore the effect of Treatment and Education of Autistic and Communication Handicapped Children (TEACCH) intervention on the rehabilitation of preschool children having autism spectrum disorder (ASD) in China. METHODS: Sixty children with ASD were randomly assigned to the intervention group (n = 30) or the control group (n = 30). The intervention group received TEACCH training plus Discrete Trial Teaching (DTT) for six months, while the control group received only DTT. The Chinese version of the Psycho-educational Profile (3rd ed.) (CPEP-3) was used to assess participants at baseline, posttest and at six-month follow-up. The results were analyzed using descriptive statistics, t test, χ(2) or Fisher’s exact test, and repeated-measures analysis of variance (ANOVA). RESULTS: No significant difference was found between the two groups at baseline (p > 0.05). Repeated-measures ANOVA showed that the CPEP-3 subscales had a significant time effect (p < 0.001). The two groups significantly differed in expressive language, affective expression, social reciprocity, problem behavior, and personal self-care at posttest and six-month follow-up (p < 0.05). They also significantly differed in receptive language, fine motor at posttest (p < 0.05), but not at follow-up. CONCLUSIONS: This study demonstrated that TEACCH-based group rehabilitation training effectively improved the development of children having ASD. It provided enhanced rehabilitation strategies that assisted children with ASD to learn, function, and reach their goals.

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