Neural correlates and predictors of speech and language development in infants at elevated likelihood for autism: a systematic review

Autism spectrum disorder (ASD) is an increasingly prevalent and heterogeneous neurodevelopmental condition, characterized by social communicative differences, and a combination of repetitive behaviors, focused interests, and sensory sensitivities. Early speech and language delays are characteristic of young autistic children and are one of the first concerns reported by parents; often before their child’s second birthday. Elucidating the neural mechanisms underlying these delays has the potential to improve early detection and intervention efforts. To fill this gap, this systematic review aimed to synthesize evidence on early neurobiological correlates and predictors of speech and language development across different neuroimaging modalities in infants with and without a family history of autism [at an elevated (EL infants) and low likelihood (LL infants) for developing autism, respectively]. A comprehensive, systematic review identified 24 peer-reviewed articles published between 2012 and 2023, utilizing structural magnetic resonance imaging (MRI; n = 2), functional MRI (fMRI; n = 4), functional near-infrared spectroscopy (fNIRS; n = 4), and electroencephalography (EEG; n = 14). Three main themes in results emerged: compared to LL infants, EL infants exhibited (1) atypical language-related neural lateralization; (2) alterations in structural and functional connectivity; and (3) mixed profiles of neural sensitivity to speech and non-speech stimuli, with some differences detected as early as 6 weeks of age. These findings suggest that neuroimaging techniques may be sensitive to early indicators of speech and language delays well before overt behavioral delays emerge. Future research should aim to harmonize experimental paradigms both within and across neuroimaging modalities and additionally address the feasibility, acceptability, and scalability of implementing such methodologies in non-academic, community-based settings

Barriers to Educator Implementation of a Classroom-Based Intervention for Preschoolers With Autism Spectrum Disorder

There is considerable need for adoptable evidence-based interventions for implementation in public classrooms serving children with autism spectrum disorders (ASD) during the preschool years, an important period in neurodevelopment. Barriers to implementation, including gaps in teacher education, contribute to the research-to-practice gap, and may compromise child outcomes. This qualitative study collected ongoing verbal and written feedback from educators (n = 8) and administrators (n = 3) during their participation in the iterative development phase of a larger project to translate and preliminarily trial an evidence-based intervention, Early Achievements, in public preschool classrooms. Using a grounded theory-based approach, barriers were identified in areas of educator preparedness, engagement, and cohesion, complexity of instructing students with ASD, limited time/resources, and administrator support. Educators and administrators differed in their perspectives. Innovative strategies are presented for enhancing transportability, along with discussion of implications for teacher education practices and related policy

Holistic outcome-based approach towards sustainable healthcare: aligning the system purpose through system visualisation

Presentation at Relating Systems Thinking and Design (RSD7) in Turin Italy. Abstract: Various stakeholders in the complex healthcare systems often prioritise and pursue different purposes, values and outcomes. Understanding/sharing/negotiating the trade-offs between them is a critical action in the development and design of complex healthcare systems. Some approaches like work domain analysis or soft systems methodology attempted to map the complex interactions, but it remains unclear how those maps and visualisations are in line with how people conceptualise in practice. This study aims to explore how designers visualise complex system interactions using healthcare outcomes to define the purpose. A workshop was conducted with 23 designers to generate outcome-based visualisations. The results indicate that designers conceptualise the purpose of the healthcare systems in different ways. Complexity was expressed through organic circles and messy arrows. However, support elements are needed to conduct open visualisations. These results may play a role in developing a visualisation-based method to address the complexity of purpose definition in healthcare

Holistic outcome-based visualisations for defining the purpose of healthcare system

Various stakeholders in the complex healthcare systems often prioritise and pursue different purposes, values and outcomes. Understanding/sharing/negotiating the trade-offs between them is a critical action in the development and design of complex healthcare systems. Some approaches like work domain analysis or soft systems methodology attempted to map the complex interactions, but it remains unclear how those maps and visualisations are in line with how people conceptualise in practice. This study aims to explore how designers visualise complex system interactions using healthcare outcomes to define the purpose. A workshop was conducted with 23 designers to generate outcome-based visualisations. The results indicate that designers conceptualise the purpose of the healthcare systems in different ways. Complexity was expressed through organic circles and messy arrows. However, support elements are needed to conduct open visualisations. These results may play a role in developing a visualisation-based method to address the complexity of purpose definition in healthcare

Prevalence of Gastrointestinal Symptoms Among Autistic Individuals, With and Without Co-Occurring Intellectual Disability

Gastrointestinal symptoms (GI) are very common among individuals on the autism spectrum. Prior research reports mixed findings regarding whether individuals with autism and co-occurring intellectual disability (ID) have elevated risk of gastrointestinal symptoms relative to individuals with autism alone. GI symptoms can be challenging to assess in individuals with autism spectrum disorder (ASD) and/or ID given challenges with language, communication, and interoception. Prior research has tended to only include individuals with documented presence or absence of GI symptoms or conditions, that is, to exclude observations in which there is uncertainty regarding presence of GI symptoms. Therefore, none of the prior autism studies reported the association between ID and the certainty regarding presence or absence of GI symptoms. The objective of this study was to examine differences in parental certainty and odds of reporting gastrointestinal signs and symptoms among children on the autism spectrum, with and without intellectual disability. Participants were 308 children (36% ID) with a clinical diagnosis of autism spectrum disorder (6-17 years). Parents endorsed whether their child had experienced or displayed a range of signs or symptoms related to GI problems in the past 3 months. Parents of autistic children with ID were less certain about the presence of more subjective symptoms, including abdominal pain, nausea, and bloating. Conversely, certainty regarding more objective signs (e.g., constipation, diarrhea, spitting up, etc.) was not significantly different. More accurate measures for GI signs/symptoms are needed for this population

Defining Spoken Language Benchmarks and Selecting Measures of Expressive Language Development for Young Children with Autism Spectrum Disorders

Purpose: The aims of this article are twofold: (a) to offer a set of recommended measures that can be used for evaluating the efficacy of interventions that target spoken language acquisition as part of treatment research studies or for use in applied settings and (b) to propose and define a common terminology for describing levels of spoken language ability in the expressive modality and to set benchmarks for determining a child\u27s language level in order to establish a framework for comparing outcomes across intervention studies.Method: The National Institute on Deafness and Other Communication Disorders assembled a group of researchers with interests and experience in the study of language development and disorders in young children with autism spectrum disorders. The group worked for 18 months through a series of conference calls and correspondence, culminating in a meeting held in December 2007 to achieve consensus on these aims.Results: The authors recommend moving away from using the term functional speech, replacing it with a developmental framework. Rather, they recommend multiple sources of information to define language phases, including natural language samples, parent report, and standardized measures. They also provide guidelines and objective criteria for defining children\u27s spoken language expression in three major phases that correspond to developmental levels between 12 and 48 months of age

Analysis of Race and Sex Bias in the Autism Diagnostic Observation Schedule (ADOS-2)

Importance: There are long-standing disparities in the prevalence of autism spectrum disorder (ASD) across race and sex. Surprisingly, few studies have examined whether these disparities arise partially out of systematic biases in the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the reference standard measure of ASD. Objective: To examine differential item functioning (DIF) of ADOS-2 items across sex and race. Design, Setting, and Participants: This is a cross-sectional study of children who were evaluated for ASD between 2014 and 2020 at a specialty outpatient clinic located in the Mid-Atlantic region of the US. Data were analyzed from July 2021 to February 2022. Exposures: Child race (Black/African American vs White) and sex (female vs male). Main Outcomes and Measures: Item-level biases across ADOS-2 harmonized algorithm items, including social affect (SA; 10 items) and repetitive/restricted behaviors (RRBs; 4 items), were evaluated across 3 modules. Measurement bias was identified by examining DIF and differential test functioning (DTF), within a graded response, item response theory framework. Statistical significance was determined by a likelihood ratio χ2 test, and a series of metrics was used to examine the magnitude of DIF and DTF. Results: A total of 6269 children (mean [SD] age, 6.77 [3.27] years; 1619 Black/African American [25.9%], 3151 White [50.3%], and 4970 male [79.4%]), were included in this study. Overall, 16 of 140 ADOS-2 diagnostic items (11%) had a significant DIF. For race, 8 items had a significant DIF, 6 of which involved SA. No single item showed DIF consistently across all modules. Most items with DIF had greater difficulty and poorer discrimination in Black/African American children compared with White children. For sex, 5 items showed significant DIF. DIF was split across SA and RRB. However, hand mannerisms evidenced DIF across all 5 algorithms, with generally greater difficulty. The magnitude of DIF was only moderate to large for 2 items: hand mannerisms (among female children) and repetitive interests (among Black/African American children). The overall estimated effect of DIF on total DTF was not large. Conclusions and Relevance: These findings suggest that the ADOS-2 does not have widespread systematic measurement bias across race or sex. However, the findings raise some concerns around underdetection that warrant further research

Homogeneous Subgroups of Young Children with Autism Improve Phenotypic Characterization in the Study to Explore Early Development

The objective of this study was to identify homogenous classes of young children with autism spectrum disorder (ASD) to improve phenotypic characterization. Children were enrolled in the Study to Explore Early Development between 2 and 5 years of age. 707 children were classified with ASD after a comprehensive evaluation with strict diagnostic algorithms. Four classes of children with ASD were identified from latent class analysis: mild language delay with cognitive rigidity, mild language and motor delay with dysregulation, general developmental delay, and significant developmental delay with repetitive motor behaviors. We conclude that a four-class phenotypic model of children with ASD best describes our data and improves phenotypic characterization of young children with ASD. Implications for screening, diagnosis, and research are discussed

Holistic outcome-based approach towards sustainable design healthcare: aligning the system purpose through system visualisation

Long-term conditions represent a healthcare crisis that requires a holistic and sustainable intervention. Systems thinking is fast becoming a vital and suitable approach to face the complexity of chronic care design and development. Systems thinking is considered a reasonable approach to cope with value conflicts between stakeholders and to generate consensus through the negotiation of the different healthcare systems elements. Although there are models that support the implementation of the system approach, there is still little understanding about how to assist the tension of conflict of values and purposes across the different stakeholders. For example, even if the overarching goal of healthcare such as “achieving people’s health” seems a well-established consensus among the healthcare stakeholders, the broad interpretation of the different stakeholders could generate diverse proposals of how to address it. These discrepancies can cause processes of change towards sustainable healthcare systems to be hindered and fail in their implementation. Therefore, to negotiate the purpose of the system is a critical action that should occur in the early stages of the project and it should be carried by participatory encounters. However, the participatory encounters in healthcare face challenges such as the lack of a common language, busy schedules, lack of empathy for the needs of others and low understanding of complex systems. Thus, strategies to trigger understanding and help to deal with value conflicts among communities of practice towards the definition of system purpose needs to be explored. Among promising strategies there are visualisations. Historically, visualisations have helped to address the discussion of complex topics and to generate models to interpret the interaction of complex systems. Although a system visualisation facilitation method can be used to facilitate the collaboration to make sense and to co-create a common understanding of the system among different stakeholders, this technique requires support elements that guide participants during the process. A holistic outcome-based approach has been proposed in an attempt to carry out the process to facilitate a system visualisation method. Outcomes are commonly present in healthcare systems and normally are linked with the aim and objectives of the stakeholders. However, outcomes have been barely explored as the main element to represent systems. Then, outcomes are an opportunity to negotiate the system purpose through participatory encounters; but, at the same time, outcomes will offer elements to guide and to link the stakeholders with a broader perspective of the system. This outcome negotiation process should be a participatory method able to facilitate the systemic thinking, the empathy toward the relevance of other stakeholder needs and outcomes and, finally, to allow the identification of a potential strategy to align the actions of the stakeholders towards the system purpose in a sustainable manner. The first proposal of an outcome-based system visualisation technique was generated following a literature review. The most relevant healthcare outcomes included were traditional outcomes such as biometrics, health-related behaviours, safety and quality of care. In addition, novel meaningful outcomes such as subjective wellbeing and happiness were identified as potential leverage across the system and therefore included to complete the holistic outcome. This paper attempts to explore how to visualise complex systems interactions using a holistic outcome-based approach. A three-hour workshop was carried at a major design conference to generate system visualisations. The workshop was firstly adapted following recommendations from Sevaldson and Jones and Bowes. However, there were adjustments made after the pilot; the corrections were mostly to clarify the instructions of each task, adjust the time of each phase, and to remove the evaluation of an author visualisation. Participants of the final workshop were recruited by invitation of the conference organisers. They had access to a description of the workshop prior to signing in. Although previous experience in healthcare systems was not mandatory at least 80 per cent of the participants expressed to have some type of experience in the design of healthcare services. 23 participants worked in 5 teams facing three main tasks. First, to generate an individual visualisation; second, to propose a team visualisation using outcomes, and finally, the teams produced narratives to orally explain their visualisation. Overall, the data consist of twenty-three individual visualisations and five group visualisations with their narratives. The visualisations were analysed and compared to find relevant patterns across the teams. The results of the visualisations suggest that there is not a clear visual pattern to make sense of systems through outcomes. Although, some outcomes, such as the psychosocial were more present in the visualisation as a link to the patient, the clinical outcomes were mostly associated with the healthcare system. However, one of the main remarkable situations is how the visualisation technique and the use of outcomes triggered and encouraged open and meaningful discussions among the participants. Outcomes were an element to work around that guide and help participants to deal with a smaller subsystem. These findings can suggest that outcome-based systems visualisation is a promising method to trigger meaningful discussions, increase the awareness of the systems elements through a holistic vision of what it is relevant for the different stakeholders. Nevertheless, these conclusions may be somewhat limited by the inclusion only of participants with a design knowledge. However, these findings gathered important feedback for developing further systems visualisation methods that pretend to include patients, family, and the wider interested community. A further study with a focus on the use of an outcome-based visualisation as a participatory approach that includes patients and providers is therefore suggested

Defining Spoken Language Benchmarks and Selecting Measures of Expressive Language Development for Young Children With Autism Spectrum Disorders

Purpose The aims of this article are twofold: (a) to offer a set of recommended measures that can be used for evaluating the efficacy of interventions that target spoken language acquisition as part of treatment research studies or for use in applied settings and (b) to propose and define a common terminology for describing levels of spoken language ability in the expressive modality and to set benchmarks for determining a child’s language level in order to establish a framework for comparing outcomes across intervention studies. Method The National Institute on Deafness and Other Communication Disorders assembled a group of researchers with interests and experience in the study of language development and disorders in young children with autism spectrum disorders. The group worked for 18 months through a series of conference calls and correspondence, culminating in a meeting held in December 2007 to achieve consensus on these aims. Results The authors recommend moving away from using the term functional speech, replacing it with a developmental framework. Rather, they recommend multiple sources of information to define language phases, including natural language samples, parent report, and standardized measures. They also provide guidelines and objective criteria for defining children’s spoken language expression in three major phases that correspond to developmental levels between 12 and 48 months of age