1. Brooks JD, Bronskill SE, Fu L, Saxena FE, Arneja J, Pinzaru VB, Anagnostou E, Nylen K, McLaughlin J, Tu K. {{Identifying Children and Youth With Autism Spectrum Disorder in Electronic Medical Records: Examining Health System Utilization and Comorbidities}}. {Autism Res}. 2020.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder requiring significant health and educational resources for affected individuals. A reference standard for ASD was generated from an existing population-based cohort of 10,000 children and youth aged 1-24 years who were randomly selected for chart abstraction from 29,256 patients from 119 family physicians. We developed and validated an algorithm to identify children and youth with ASD within an electronic medical record system (N = 80,237, aged 1-24 years) in order to examine the prevalence of comorbidities and quantify health system utilization within the cohort. We identified 1,062 children and youth with ASD representing a prevalence of 1.32%. Compared to individuals without ASD, those with ASD had a higher prevalence of asthma, were more likely to visit a specialist, undergo surgery, and be hospitalized for psychiatric reasons. Children and youth with ASD in Ontario have complex health system needs, illustrated through a significant burden of comorbidities and increased health system utilization. LAY SUMMARY: Our paper generates population-based estimates of health system use by children and youth with ASD, who have a higher burden of comorbidities than the general population. We developed a case-finding algorithm and applied it in electronic medical records to create a cohort of children and youth with ASD, thereby generating an important resource to further study the health care needs of individuals with ASD.
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2. Davidovitch M, Slobodin O, Weisskopf MG, Rotem RS. {{Age-Specific Time Trends in Incidence Rates of Autism Spectrum Disorder Following Adaptation of DSM-5 and Other ASD-Related Regulatory Changes in Israel}}. {Autism Res}. 2020.
We analyzed data on 879,029 children born in 1999-2017 from a large Israeli health fund to evaluate time-trends in incidence of autism spectrum disorder (ASD). This included examining possible effects associated with the adaptation of the DSM-5 criteria for ASD, and the implementation of regulatory changes affecting eligibility for ASD-related stipends and services. ASD cases were ascertained based on electronic medical records review, with complete verification of ASD case status. Results indicated a substantial increase in ASD incidence rate (IR) over time that was overall not appreciably affected by the above changes. Cumulative incidence through age 8 rose from 0.46% (boys: 0.73; girls: 0.18) in 2007 to 1.30% (boys: 2.12; girls: 0.45) in 2018. Age-specific analyzes indicated that the largest increase in IR occurred in toddlers and preschool children, with a more modest increase at older age groups. Results suggest that the rise in early diagnosed ASD does not stem from a downward shift in the distribution of ages at first diagnosis, but rather from early detection of cases not previously diagnosed. Findings highlight the need to expand research aimed at identifying exogenous factors that may underlie the rise in incidence, and to evaluate factors that may contribute to late diagnosis of some cases. LAY SUMMARY: In an analysis of nearly 900,000 Israeli children born in 1999-2017, we found that the incidence of autism spectrum disorder (ASD) increased significantly over time, especially among toddlers and preschool children but also at older age groups. We additionally observed that changes affecting diagnostic criteria for ASD and eligibility for ASD-related services did not appreciably affect these trends. Results highlight the need to continue research aimed at identifying factors causing this increase and reasons contributing to late diagnosis of some cases.
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3. Floris DL, Wolfers T, Zabihi M, Holz NE, Zwiers MP, Charman T, Tillmann J, Ecker C, Dell’Acqua F, Banaschewski T, Moessnang C, Baron-Cohen S, Holt R, Durston S, Loth E, Murphy DGM, Marquand A, Buitelaar JK, Beckmann CF. {{Atypical Brain Asymmetry in Autism-A Candidate for Clinically Meaningful Stratification}}. {Biol Psychiatry Cogn Neurosci Neuroimaging}. 2020.
BACKGROUND: Autism spectrum disorder (« autism ») is a highly heterogeneous neurodevelopmental condition with few effective treatments for core and associated features. To make progress we need to both identify and validate neural markers that help to parse heterogeneity to tailor therapies to specific neurobiological profiles. Atypical hemispheric lateralization is a stable feature across studies in autism, but its potential as a neural stratification marker has not been widely examined. METHODS: In order to dissect heterogeneity in lateralization in autism, we used the large EU-AIMS (European Autism Interventions-A Multicentre Study for Developing New Medications) Longitudinal European Autism Project dataset comprising 352 individuals with autism and 233 neurotypical control subjects as well as a replication dataset from ABIDE (Autism Brain Imaging Data Exchange) (513 individuals with autism, 691 neurotypical subjects) using a promising approach that moves beyond mean group comparisons. We derived gray matter voxelwise laterality values for each subject and modeled individual deviations from the normative pattern of brain laterality across age using normative modeling. RESULTS: Individuals with autism had highly individualized patterns of both extreme right- and leftward deviations, particularly in language, motor, and visuospatial regions, associated with symptom severity. Language delay explained most variance in extreme rightward patterns, whereas core autism symptom severity explained most variance in extreme leftward patterns. Follow-up analyses showed that a stepwise pattern emerged, with individuals with autism with language delay showing more pronounced rightward deviations than individuals with autism without language delay. CONCLUSIONS: Our analyses corroborate the need for novel (dimensional) approaches to delineate the heterogeneous neuroanatomy in autism and indicate that atypical lateralization may constitute a neurophenotype for clinically meaningful stratification in autism.
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4. Franich K, Wong HY, Yu ACL, To CKS. {{Temporal Coordination and Prosodic Structure in Autism Spectrum Disorder: Timing Across Speech and Non-speech Motor Domains}}. {J Autism Dev Disord}. 2020.
Individuals with autism spectrum disorder (ASD) often exhibit disordered speech prosody, but sources of disordered prosody remain poorly understood. We explored patterns of temporal alignment and prosodic grouping in a speech-based metronome repetition task as well as manual coordination in a drum tapping task among Cantonese speakers with ASD and normal nonverbal IQ and matched controls. Results indicate similar group results for prosodic grouping patterns, but significant differences in relative timing and longer syllable durations at phrase ends for the ASD group. Variability on the speech task was significantly correlated with variability on the drumming task, consistent with the view that impairment in both speech and non-speech motor domains can be linked with deficits in temporal processing.
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5. Iwafuchi S, Kikuchi A, Endo W, Inui T, Aihara Y, Satou K, Kaname T, Kure S. {{A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder}}. {Brain Dev}. 2020.
BACKGROUND: CUL3 encodes cullin-3, a core component of a ubiquitin E3 ligase. CUL3 mutations have recently been associated with autism spectrum disorder (ASD); however, the detailed clinical courses have been described in only a limited number of patients with CUL3 mutations and neurodevelopmental diseases, including ASD. CASE REPORT: A 21-month-old Japanese girl presented with febrile status epilepticus and thereafter exhibited developmental regression, including loss of her verbal ability, eye contact, and skills in activities of daily living. Trio-based exome sequencing identified a de novo two-base insertion in CUL3, c.1758_1759insTG, p.(Thr587*). CONCLUSION: We report a case of a patient with ASD and a stop-gain CUL3 variant. Screening of CUL3 variants is worth considering for patients with ASD, especially those with Rett-like developmental regression.
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6. Konečná B, Radošinská J, Keményová P, Repiská G. {{Detection of disease-associated microRNAs – application for autism spectrum disorders}}. {Rev Neurosci}. 2020; 31(7): 757-69.
Autism spectrum disorders (ASD) diagnostic procedure still lacks a uniform biological marker. This review gathers the information on microRNAs (miRNAs) specifically as a possible source of biomarkers of ASD. Extracellular vesicles, and their subset of exosomes, are believed to be a tool of cell-to-cell communication, and they are increasingly considered to be carriers of such a marker. The interest in studying miRNAs in extracellular vesicles grows in all fields of study and therefore should not be omitted in the field of neurodevelopmental disorders. The summary of miRNAs associated with brain cells and ASD either studied directly in the tissue or biofluids are gathered in this review. The heterogeneity in findings from different studies points out the fact that unified methods should be established, beginning with the determination of the accurate patient and control groups, through to sample collection, processing, and storage conditions. This review, based on the available literature, proposes the standardized approach to obtain the results that would not be affected by technical factors. Nowadays, the method of high-throughput sequencing seems to be the most optimal to analyze miRNAs. This should be followed by the uniformed bioinformatics procedure to avoid misvalidation. At the end, the proper validation of the obtained results is needed. With such an approach as is described in this review, it would be possible to obtain a reliable biomarker that would characterize the presence of ASD.
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7. Markiewicz K, Kaczmarek BLJ, Filipiak S. {{Mediating Effect of Emotional and Social Competences on Interrelations Between Gender, Age and the Broad Autism Phenotype}}. {J Autism Dev Disord}. 2020.
The study aimed to identify the mediating role of emotional intelligence and social competences in the relationship between gender and broad autism phenotype (BAP) as well as between age and BAP. It comprised 85 parents of children with ASD. They completed the questionnaires of Autism-Spectrum Quotient, social competences, and emotional intelligence. The results revealed that emotional intelligence in general and its two dimensions: the ability to accept and express emotions and to empathize are important mediators of the relationship between gender and BAP. Also, social competences in general and two of their dimensions: the effectiveness of behavior in intimate situations and in social situations were significant mediators. The relationship between age and BAP could not be confirmed.
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8. Scarlytt de Oliveira Holanda N, Delgado Oliveira da Costa L, Suelen Santos Sampaio S, Gomes da Fonseca Filho G, Batista Bezerra R, Guerra Azevedo I, Alves Pereira S. {{Screening for Autism Spectrum Disorder in Premature Subjects Hospitalized in a Neonatal Intensive Care Unit}}. {Int J Environ Res Public Health}. 2020; 17(20).
Considering that the average age for diagnosis of autism spectrum disorder (ASD) is 4-5 years, testing screening methods for ASD risk in early infancy is a public health priority. This study aims to identify the risks for development of ASD in children born prematurely and hospitalized in a neonatal intensive care unit (NICU) and explore the association with pre-, peri- and postnatal factors. Methods: The children’s families were contacted by telephone when their child was between 18 and 24 months of age, to apply the Modified Checklist for Autism in Toddlers (M-CHAT). The sample consisted of 40 children (57.5% boys). M-CHAT screening revealed that 50% of the sample showed early signs of ASD. Although the frequency of delayed development was higher in boys, this difference was not statistically significant between the sexes (p = 0.11). Assessment of the association between perinatal conditions and early signs of autism in children hospitalized in an NICU exhibited no correlation between the factors analyzed (birth weight and type of delivery). The findings indicate a high risk of ASD in premature children, demonstrating no associations with gestational and neonatal variables or the hospitalization conditions of the NICUs investigated.
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9. Yoder P, Rogers S, Estes A, Warren Z, Munson J, Hellemann G, McEachin J. {{Interaction of Treatment Intensity and Autism Severity on Frequency and Maturity of Spontaneous Communication in Toddlers with Autism Spectrum Disorder}}. {Autism Res}. 2020.
This study tested whether the effect of treatment intensity or treatment style on children’s frequency and maturity of spontaneous communication varied by initial severity of disability. Eighty-seven toddlers with autism spectrum disorders were randomly assigned to either (a) 15 hrs per week of discrete trial teaching (DTT), (b) 25 hrs per week of DTT, (c) 15 hrs per week of a naturalistic developmental behavioral intervention (NDBI), or (d) 25 hrs per week of NDBI. Trained research staff implemented the 1:1 treatments in homes or educational centers over 12 months. We quantified the frequency and maturity of spontaneous communication during monthly 6-min communication samples. We quantified disability severity at Time 1 using the developmental quotient from the Mullen Scales of Early Learning and the total calibrated severity score from the Autism Diagnostic Observation Schedule-second edition. Higher levels of treatment intensity (i.e., more hours per week) benefited frequency and maturity of spontaneous communication growth rate only in children with relatively mild autism symptoms. Other results were nonsignificant. LAY SUMMARY: Eighty-seven toddlers with autism spectrum disorders were randomly assigned to 15 hrs per week of discrete trial teaching (DTT), 25 hrs per week of DTT, 15 hrs per week of a naturalistic developmental behavioral intervention (NDBI), or 25 hrs per week of NDBI. Trained research staff implemented the treatments in homes or educational centers over 12 months. More hours of treatment per week benefited frequency and maturity of spontaneous communication growth rate only in children with relatively mild autism symptoms. Other results were nonsignificant.
