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Today — 22 January 2025Wiley: Autism Research: Table of Contents

Gross Motor Development in Children With Autism: Longitudinal Trajectories From the Growing Up in New Zealand Study

✇Wiley: Autism Research: Table of Contents
By: Paula Araya， Katrina Phillips， Karen Waldie， Lisa Underwood
20 January 2025 at 10:44

ABSTRACT

This study explored gross motor development (GMD) trajectories among 6359 children, with and without autism, from the Growing Up in New Zealand longitudinal cohort study. By the age of 8, 173 children had either an autism diagnosis (n = 108) or parent-reported autism concerns (n = 65). Gross motor milestones were reported by mothers when children were 9, 24, and 54 months of age. We found that irrespective of autism diagnosis, GMD delays at 24 months of age were more likely among girls, children born preterm, and those whose mothers identified as European. A mixed-effect logistic regression model, controlling for antenatal maternal and child covariates, revealed that the proportion of children with GMD delay (relative to their peers) increased significantly from 9 to 54 months for all three groups, but the increase was greater for those with autism concerns (OR = 1.28, 95% CI = 1.08–1.52) or an autism diagnosis (OR = 1.26, 95% CI = 1.10–1.43) compared to the no autism group (OR = 1.06, 95% CI = 1.02–1.10). Differences in the changes in GMD performance among children with an autism diagnosis compared to those without autism occurred between 9 and 24 months (OR = 2.16, 95% CI = 1.13–4.13). No significant GMD delay differences were found at any time between children with an autism diagnosis versus those with autism concerns. Children with a GMD delay should be screened for autism at 24 m. Early identification is the first step toward knowledge-based, effective intervention of developmental difficulties.

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Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development

✇Wiley: Autism Research: Table of Contents
By: Mei He， Bing Du， Guodong Chen， Yongqing Lyu， Hui Guo， Xiangbin Jia， Kun Xia
18 January 2025 at 10:57

ABSTRACT

Neurodevelopmental disorders (NDDs) encompass a group of conditions that impact brain development and function, exhibiting significant genetic and clinical heterogeneity. NAA15, the auxiliary subunit of the N-terminal acetyltransferase complex, has garnered attention due to its association with NDDs. However, the precise role of NAA15 in cortical development and its contribution to NDDs remain elusive. By employing targeted sequencing on a large Chinese cohort affected by ASD and conducting an extensive literature review, we have compiled 64 distinct variants in the NAA15 gene identified among individuals with neurodevelopmental disorders. Our research demonstrates that loss of NAA15 leads to a substantial increase in neuronal count, potentially resulting in aberrant brain development and triggering repetitive as well as anxious behaviors in mice models. Furthermore, disorder-associated variants within NAA15 impair axon and synapse formation processes crucial for neural connectivity establishment. These findings shed light on the consequences of NAA15 deficiency along with its de novo mutations on brain development while unraveling the cellular mechanisms underlying NDDs.

Demographic Correlates of Autism: How Do Associations Compare Between Diagnosis and a Quantitative Trait Measure?

✇Wiley: Autism Research: Table of Contents
By: Kristen Lyall， Aisha S. Dickerson， Annette M. Green， Seth Frndak， Lisa A. Croen， Jennifer L. Ames， Lyndsay A. Avalos， Judy L. Aschner， Nicole R. Bush， Carlos A. Camargo Jr， Viren D'Sa， Stephen R. Dager， Anne L. Dunlop， Assiamira Ferrara， Jody M. Ganiban， James E. Gern， Tre D. Gissandaner， J. Carolyn Graff， Irva Hertz‐Picciotto， Alison E. Hipwell， Tengfei Ma， Meghan Miller， Laura Murphy， Margaret R. Karagas， Rachel S. Kelly， Amy Margolis， Daphne Koinis‐Mitchell， Cindy T. McEvoy， Daniel Messinger， Ruby Nguyen， Emily Oken， Sally Ozonoff， Grier P. Page， Susan L. Schantz， Rebecca J. Schmidt， Coral L. Shuster， Julie B. Schweitzer， Stephen J. Sheinkopf， Joseph B. Stanford， Cindy O. Trevino， Scott T. Weiss， Heather E. Volk， Robert M. Joseph， program collaborators for Environmental influences on Child Health Outcomes， PB Smith， LK Newby， LP Jacobson， DJ Catellier， R Gersh
8 January 2025 at 09:28

ABSTRACT

Prevalence of autism diagnosis has historically differed by demographic factors. Using data from 8224 participants drawn from the Environmental influences on Child Health Outcomes (ECHO) Program, we examined relationships between demographic factors and parent-reported autism-related traits as captured by the Social Responsiveness Scale (SRS; T score > 65) and compared these to relations with parent-reported clinician diagnosis of ASD, in generalized linear mixed effects regression analyses. Results suggested lower odds of autism diagnosis, but not of SRS T > 65, for non-Hispanic Black children (adjusted odds ratio [OR] = 0.76, 95% CI 0.55, 1.06) relative to non-Hispanic White children. Higher maternal education was associated with reduced odds of both outcomes (OR = 0.73, 95% CI 0.51, 1.05 for ASD autism diagnosis and 0.4, 95% CI 0.29, 0.55 for SRS score). In addition, results suggested a lower likelihood of autism diagnosis but a higher likelihood of an SRS score > 65 in Black girls. Findings suggest lower diagnostic recognition of autism in non-Hispanic Black children, despite a similar degree of SRS-assessed autism-related traits falling in the clinically elevated range. Further work is needed to address this disparity.

Reports of Echolalia and Related Behaviors in Autism From Parents, Teachers, and Clinicians: Evidence From the Simon Simplex Collection

✇Wiley: Autism Research: Table of Contents
By: Margaret L. McAllister， Tyler McFayden， Clare Harrop
7 January 2025 at 09:29

ABSTRACT

Echolalia, the immediate or delayed repetition of speech, is a core diagnostic criterion for autism spectrum disorder. It has been studied for over 50 years and is well-described; however, no consensus on prevalence estimates exists for echolalia's occurrence in autistic youth. The current study sought to (1) describe endorsement of echolalia-related items using parent-, teacher-, and clinician-reports in a well-validated sample of autistic youth and (2) characterize relations between echolalia and other key factors, including age, language ability, and repetitive behaviors. Participants (n = 2555, 4–17 years, 13% female, 78% White) from the Simon Simplex Collection provided data from multi-informant ratings of echolalia and related behaviors. Nine parent-, clinician-, and teacher-report items were extracted from five measures to broadly capture echolalia through a composite score. Results indicated that as many as 90% of autistic individuals express echolalia at some point in their development. Hierarchical linear regression was conducted to evaluate relations between echolalia, verbal ability, and repetitive behaviors, controlling for age, sex, and autism severity. Results indicated the main effects of verbal ability and repetitive behaviors. A significant interaction qualified this main effect wherein age was negatively associated with echolalia for children with higher verbal ability, but not those with lower verbal ability, suggesting that adolescents with less generative speech may leverage echolalia as a communicative strategy. Echolalia was positively associated with repetitive behaviors across development. These associations support a dualistic interpretation of echolalia as functional communication and as a form of repetitive behavior. Future research is needed to understand the developmental trajectories of echolalia and develop affirming support for this autistic behavior.

Relationship between service receipt during the COVID‐19 pandemic and autistic children's multisystem outcomes and autism severity: A SPARK dataset analysis

✇Wiley: Autism Research: Table of Contents
By: Jung‐Mei Tsai， Anjana Bhat
7 January 2025 at 08:53

Abstract

Children with autism spectrum disorder (ASD) display a variety of core and co-occurring difficulties in social, communication, everyday functioning, cognitive, motor, and language domains. Receiving a combination of services to accommodate needs of autistic individuals is essential for improving their future outcomes. During the COVID-19 pandemic, reduced service access negatively impacted autistic children's outcomes. This study aimed to examine the relationship between service receipt and parental perceived outcomes in autistic children while accounting for various demographic, child, and parental factors. We utilized parental COVID-19 impact survey data from the SPARK study (N = 6067). Ordinal logistic regression analyses were used to predict perceived child outcomes. Demographic, child, and parental factors were included in the prediction models. Service receipt of SLT, ABA, PT/OT, MED, and MH were associated with perceived child outcomes. PT/OT and ABA predicted improvements in domains of social interaction, everyday activity, and overall autism severity; SLT and ABA contributed to improved perceived communication outcomes. Receiving MH and MED services was associated with worsening of perceived outcomes on all domains. Younger age, males, higher family income, lower autism severity, lower motor, function, and cognitive delay, greater language delay, and the absence of parental mental health issues were associated with greater improvements in various perceived outcomes. Overall, PT/OT and ABA services are associated with improved perceived social and functional outcomes whereas SLT and ABA services are associated with improved perceived communication outcomes. We also provide a wholistic view of factors affecting relationships between service receipt and perceived child outcomes during the pandemic.

Abnormalities in cerebellar subregions' volume and cerebellocerebral structural covariance in autism spectrum disorder

✇Wiley: Autism Research: Table of Contents
By: Yu Wang， Aihua Cao， Jing Wang， He Bai， Tianci Liu， Chenxi Sun， Zhuoran Li， Yuchun Tang， Feifei Xu， Shuwei Liu
3 January 2025 at 11:44

Abstract

The cerebellum plays a crucial role in functions, including sensory-motor coordination, cognition, and emotional processing. Compared to the neocortex, the human cerebellum exhibits a protracted developmental trajectory. This delayed developmental timeline may lead to increased sensitivity of the cerebellum to external influences, potentially extending the vulnerability period for neurological disorders. Abnormal cerebellar development in individuals with autism has been confirmed, and these atypical cerebellar changes may affect the development of the neocortex. However, due to the heterogeneity of autism spectrum disorder (ASD), the regional changes in the cerebellum and cerebellocerebral structural relationship remain unknown. To address these issues, we utilized imaging methods optimized for the cerebellum and cerebrum on 817 individuals aged 5–18 years in the ABIDE II dataset. After FDR correction, significant differences between groups were found in the right crus II/VIIB and vermis VI-VII. Structural covariance analysis revealed enhanced structural covariance in individuals with autism between the cerebellum and parahippocampal gyrus, pars opercularis, and transverse temporal gyrus in the right hemisphere after FDR correction. Furthermore, the structural covariance between the cerebellum and some regions of the cerebrum varied across sexes. A significant increase in structural covariance between the cerebellum and specific subcortical structures was also observed in individuals with ASD. Our study found atypical patterns in the structural covariance between the cerebellum and cerebrum in individuals with autism, which suggested that the underlying pathological processes of ASD might concurrently affect these brain regions. This study provided insight into the potential of cerebellocerebral pathways as therapeutic targets for ASD.

Atypical Regional Accent in Autistic Children: A Perception Study

✇Wiley: Autism Research: Table of Contents
By: Federica Beccaria， Gloria Gagliardi， Mikhail Kissine
31 December 2024 at 19:00

ABSTRACT

Autistic children are frequently said to speak with accents that markedly differ from those of their linguistic communities. To date, these anecdotal reports have never been tested or explained. We ran two perception studies using short audio recordings of autistic and typically developing children from the Campania region in Italy. The variety of Italian to which children are exposed in this region markedly differs from those spoken in the rest of Italy. Participant responses about the children's geographical origin show: (a) That autistic children's accent is devoid of the regional features of their community; (b) resembles the standard variety used in cartoons and child television programs. The judgments about children's accents are, furthermore, independent of the overall perception of speech atypicality. This paper shows that the accent of autistic children may diverge from that of their caregivers and peers because of the lasting influence of non-interactional, screen sources on their speech.

Robust Autism Spectrum Disorder‐Related Spatial Covariance Gray Matter Pattern Revealed With a Large‐Scale Multi‐Center Dataset

✇Wiley: Autism Research: Table of Contents
By: Sheng‐Zhi Ma， Xing‐Ke Wang， Chen Yang， Wen‐Qiang Dong， Dan‐Dan Chen， Chao Song， Qiu‐Rong Zhang， Yu‐Feng Zang， Li‐Xia Yuan
31 December 2024 at 10:46

ABSTRACT

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder and its underlying neuroanatomical mechanisms still remain unclear. The scaled subprofile model of principal component analysis (SSM-PCA) is a data-driven multivariate technique for capturing stable disease-related spatial covariance pattern. Here, SSM-PCA is innovatively applied to obtain robust ASD-related gray matter volume pattern associated with clinical symptoms. We utilized T1-weighted structural MRI images (sMRI) of 576 subjects (288 ASDs and 288 typically developing (TD) controls) aged 7–29 years from the Autism Brain Imaging Data Exchange II (ABIDE II) dataset. These images were analyzed with SSM-PCA to identify the ASD-related spatial covariance pattern. Subsequently, we investigated the relationship between the pattern and clinical symptoms and verified its robustness. Then, the applicability of the pattern under different age stages were further explored. The results revealed that the ASD-related pattern primarily involves the thalamus, putamen, parahippocampus, orbitofrontal cortex, and cerebellum. The expression of this pattern correlated with Social Response Scale and Social Communication Questionnaire scores. Moreover, the ASD-related pattern was robust for the ABIDE I dataset. Regarding the applicability of the pattern for different age stages, the effect sizes of its expression in ASD were medium in the children and adults, while small in adolescents. This study identified a robust ASD-related pattern based on gray matter volume that is associated with social deficits. Our findings provide new insights into the neuroanatomical mechanisms of ASD and may facilitate its future intervention.

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