OPINION article Front. Psychiatry, 22 July 2022Sec. Autism https://doi.org/10.3389/fpsyt.2022.956351

Happe and Frith (2020) list seven changes in the concept of autism that have taken place since the 80s when autism became the focus of clinical concerns and research interests. These dramatic changes, supported by additional research results, have not convinced Sonuga-Barke (2020) that a Kuhnian revolution in psychiatric nosology may be at our front door. This commentary will discuss this conclusion, calling on ASD researchers to re-evaluate the benefits of a paradigm shift in the nosology of ASD.

Mottron's commentary (2021a) set the stage for a courageous discussion, as Frith (2021) puts it, detailing the fundamental problems in the current diagnosis of ASD. Among the issues that hamper progress in research on autism, Mottron lists heterogeneity, lack of specificity, the quantitative properties of the specifiers and the problematic nature of co-morbid ASD. Nevertheless, although somewhat hesitant about the status of autism as a natural category, Mottron does not go as far as suggesting that we give up the categorical definition of ASD. Even if not explicitly stated, issues that concern the categorical status of ASD lurk behind multiple recent publications. Current research reports of overlap in symptomatology between ASD and other neurodevelopmental disorders (NDDs), within-category, extreme heterogeneity, lack of category-specific developmental course, shared common and rare mutations between ASD and other NDD, true pleiotropy and mixed neuroimaging results in people with ASD. Recent work in neurobiology and genetics of childhood disorders presented evidence of a common factor, labeled the factor p, underlying diagnostically diverse developmental disorders, among them ASD (ex. Allegrini et al. 2020). Thus, doubts are accumulating and the data seem to call for a re-conceptualization of ASD. The impediments to research of the current conceptualization of ASD has been known for a while, yet the plea for trans-diagnostic research agenda (i.e. Levy & Ebstein, 2009; Waterhouse & Gillberg, 2014) has not had an effect on research practices on NDD in general, and on ASD in particular. NIH RDoC initiative (Insel et al., 2010) has had some impact in directing research away from clinically defined syndromes, but so far has failed to introduce a paradigm shift in research practices on NDD, including ASD. Is the time ripe for a radical change in our research strategy? Mottron (2021a) proposal focusing on prototypical cases of autism, although revolutionary, still leaves one foot within the cozy consensus. I propose we aim at a full paradigm shift and consider the following approach. The recurrence of social communication/interaction disorders and that of restricted/repetitive patterns of behavior seen in many childhood disorders, their dimensionality across populations and their over-inclusiveness and diverse behavioral manifestations equates them to meta-terms such as language impairment or cognitive level. In other words, the developmental profiles that we label ASD do not map onto a diagnostic category. Rather, they are the behavioral manifestations of the interactive processes among the meta-domains. Similar to the specifiers, the current defining modules of ASD are best conceptualized as recurrent, childhood disruptive phenomena with myriad manifestations, arising in the context of diverse neurobiological conditions and environmental backgrounds. Importantly, there has been little or no research into interactions between domains. This is still an unknown terrain likely to provide new, perhaps revolutionary insights. The potential interactions and dependencies among the components of the meta terms – in today's terminology, specifiers alongside the current defining parameters of ASD - may well account for what Mottron refers to as prototypical cases as well. In fact, Mottron's definition of ASD as “a variation in the way humans hierarchize, group and process information structure and domains” (2021b, p. 3) favors such an account.

Jaswal & Akhtar (J&A) offer evidence against lack of social motivation in "autistic people," providing no further phenotypic details as to the autism spectrum disorder (ASD) subgroups that they refer to. I will argue that given the extensive behavioral and neurobiological heterogeneity among people who receive the diagnosis, reference to "autistic people" is misleading. As a consequence, J&A's claims are difficult to interpret.

In memory of Annette Karmiloff-Smith. This paper reviews recent neurobiological research reporting structural co-variance and temporal dependencies in age-dependent gene expression, parameters of cortical maturation, long range connectivity and interaction of the biological network with the environment. This research suggests that age by size trajectories of brain structures relate to functional properties more than absolute sizes. In line with these findings, recent behavioral studies of typically developing children whose language development was delayed reported long term consequences of such delays. As for neurodevelopmental disorders, disrupted developmental timing and slow acquisitional pace are hallmarks of these populations. It is argued that these behavioral and neuro-biological results highlight the need to commit to a developmental model which will reflect the fact that temporal dependencies overseeing structural co-variance among developmental components are major regulatory factors of typical development of the brain/mind network. Consequently, the concept of ‘developmental delay’ in developmental theorizing needs to be reconsidered.

To evaluate postextubation swallowing dysfunction (PSD) 21 days after endotracheal extubation and to examine whether PSD is time-limited and whether age matters. For this prospective cohort study, we evaluated 151 adult critical care patients (≥20 years) who were intubated for at least 48hours and had no pre-existing neuromuscular disease or swallowing dysfunction. Participants were assessed for time (days) to pass bedside swallow evaluations (swallow 50mL of water without difficulty) and to resume total oral intake. Outcomes were compared between younger (20–64 years) and older participants (≥65 years). PSD, defined as inability to swallow 50mL of water within 48hours after extubation, affected 92 participants (61.7% of our sample). At 21 days postextubation, 17 participants (15.5%) still failed to resume total oral intake and were feeding-tube dependent. We found that older participants had higher PSD rates at 7, 14, and 21 days postextubation, and took significantly longer to pass the bedside swallow evaluations (5.0 vs 3.0 days; P=0.006) and to resume total oral intake (5.0 vs 3.0 days; P=0.003) than their younger counterparts. Older participants also had significantly higher rates of subsequent feeding-tube dependence than younger patients (24.1 vs 5.8%; P=0.008). Excluding patients with pre-existing neuromuscular dysfunction, PSD is common and prolonged. Age matters in the time needed to recover. Swallowing and oral intake should be monitored and interventions made, if needed, in the first 7 to 14 days postextubation, particularly for older patients. Abbreviations: APACHE II = acute physiology and chronic health evaluation II, BMI = body mass index, BSE = bedside swallow evaluation, FEES = fiber optic endoscopic evaluation of swallowing, FOIS = Functional Oral Intake Scale, GEE = generalized estimating equations, ICU = intensive care unit, PSD = postextubation swallowing dysfunction, VFS = videofluoroscopy of swallowing.

Writing systems encode linguistic information in diverse ways, relying on cognitive procedures that are likely to be general purpose rather than specific to reading. Optimality in reading for meaning is achieved via the entire communicative act, involving, when the need arises, syntax, nonlinguistic context, and selective attention.

This is a naturalistic study of the development of language in Hebrew-speaking children with Williams syndrome (WS) and children with Down syndrome (DS), whose MLU extended from 1·0 to 4·4. Developmental curves over the entire span of data collection revealed minor differences between children with WS, children with DS, and typically developing (TD) controls of similar MLU. Development within one calendar year showed remarkable synchrony among the variables. However, age of language onset and pace of acquisition departed significantly from normal timing. It is argued that in view of the centrality of genetic timing and the network properties of cognition, normal schedules are crucial determinants of intact development. Consequently, with respect to neurodevelopmental syndromes, the so-called 'language delay' is indicative of deviance that is likely to impact development in critical ways.

A significant percentage of children, ages 0-5 years, present with developmental delays. Delays can be global (GDD), when two or more developmental areas manifest at least 6 months delays, or specific (SDD)when it relates to a single functional area. This special issue reviews etiologies as well as clinical and research uses of the term, focusing on the potential for arriving at earlier specific diagnoses in cases of CP, ADHD, ASD and language impairments (LI).

This study investigated white matter integrity in young children with autism using diffusion tensor imaging (DTI). Twenty‐two children with autism, mean age 3:2 years, and 32 controls, mean age 3:4 years, participated in the study. Tract‐based spatial statistics (TBSS) revealed white matter abnormalities in several distinct clusters within the genu and body of the corpus callosum (CC), left superior longitudinal fasciculus (SLF) and right and left cingulum (Cg). TBSS–VOIs analysis was performed in the clusters where differences in fractional anisotropy (FA) were detected to investigate the relationship between changes in FA and diffusivity indices. In all VOIs, increase in FA was caused by a decrease in radial diffusivity (Dr), while no changes in axial diffusivity (Da) or mean diffusivity (MD) were observed. Tractography analysis was applied to further study the CC, SLF, and Cg. Witelson parcellation scheme was used for the CC. Significant increase in FA was seen in children with autism in the mid‐body of the CC as well as in the left Cg. It is suggested that such abnormal white matter integrity in young children with autism may adversely affect connectivity between different brain regions and may be linked to some of the behavioral impairments apparent in autism. Hum Brain Mapp, 2011. © 2010 Wiley‐Liss, Inc.

This is a study of word decoding in adolescents with Down syndrome and in adolescents with Intellectual Deficits of unknown etiology. It was designed as a replication of studies of word decoding in English speaking and in Hebrew speaking adolescents with Williams syndrome (Levy & Antebi, 2004: Levy, Smith, & Tager-Flusberg, 2003). Participants' IQ was matched to IQ in the groups with Williams syndrome and was within the range of mental retardation or borderline intelligence. Our aim was to investigate the impact of IQ on word decoding in these populations, rather than estimate their overall reading level.Similar to the results seen in people with Williams syndrome, word decoding was correlated with auditory short term memory and with phonological awareness tasks yet these correlations were mediated by IQ. It is argued that learning to decode is an explicit task that relies primarily on general cognitive resources of the kind that are most vulnerable in people with sub-normal IQ. (C) 2011 Elsevier Ltd. All rights reserved.

The study focuses on language and cognitive abilities of siblings of the linguistically most affected children with autism (i.e. siblings of nonverbal children - SIBS-ANV). Twenty-eight SIBS-ANV (17 boys), ages 4-9 years, took part in the study. All children attended regular schools, and none had received a diagnosis of autism. Controls were 27 typically developing children (SIBS-TD; 16 boys) matched to the SIBS-ANV on age, family background, socioeconomic status and type of school they attended. Significant IQ differences, as well as language differences as measured on the Clinical Evaluation of Language Fundamentals (CELF), emerged between SIBS-ANV and SIBS-TD. However, differences in the language scores mostly disappeared when PIQ and FSIQ were controlled for. Furthermore, grammatical analysis of spontaneous speech samples produced in the course of testing did not reveal any significant differences between the groups. These results add to recent work suggesting that language deficits may not be part of the Broad Autism Phenotype (BAP). It further suggests that the cognitive deficit characteristic of nonverbal people with autism may be familial.

This article presents current neurobiological concepts that highlight the critical role of chronological age in determining optimal development. The role of sensitive periods, experience expectancy, gene expression, and gene-age interactions is discussed. The debate between "splitters" and "lumpers" is presented in light of the review articles in this special issue. The conclusion from this study is that in a significant proportion of cases, earlier diagnoses are possible, avoiding the all-encompassing developmental delay/global developmental delay, and opening up possibilities of early interventions. It is further argued that research methodology might benefit from early diagnoses as well.

The inherent imprecision of behavioral phenotyping is the single most important factor contributing to the failure to discover the biological factors that are involved in psychiatric and neurodevelopmental disorders (e.g., Bearden & Freimer, 2006). In this review article we argue that in addition to an appreciation of the inherent complexity at the biological level, a rather urgent task facing behavioral scientists involves a reconsideration of the role that clinical syndromes play in psychological theorizing, as well as in research into the biological basis of cognition and personality. Syndrome heterogeneity, cross-syndrome similarities and syndrome comorbidities question the relevance of syndromes to biological research. It is suggested that the search for brain endophenotypes, intermediate between genes and behavior, should be based on cross-syndrome, trait classification. Cohort selection should rest on behavioral homogeneity, enabling, when necessary, syndrome heterogeneity.

Although individuals with Williams Syndrome (WS) are empathic and sociable and perform relatively well on face recognition tasks, they perform poorly on tasks of facial expression recognition. The current study sought to investigate this seeming inconsistency. Participants were tested on a Garner-type matching paradigm in which identities and expressions were manipulated simultaneously as the relevant or irrelevant dimensions. Performance of people with WS on the expression-matching task was poor and relied primarily on facilitation afforded by congruent identities. Performance on the identity matching task came close to the level of performance of matched controls and was significantly facilitated by congruent expressions. We discuss potential accounts for the discrepant processing of expressions in the task-relevant (overt) and task-irrelevant (covert) conditions, expanding on the inherently semantic-conceptual nature of overt expression matching and its dependence on general cognitive level.

We investigated the interactions between matching identity and expressions of unfamiliar faces. In experiment 1, participants matched expressions in frontal and in oblique views, while we manipulated facial identity. In experiment 2, participants matched identity in frontal and in oblique views, while facial expressions were manipulated. Labeling of expressions was not required. Results showed mutual facilitation between matching facial identity and facial expressions, in accuracy as well as in reaction times. Thus, matching expressions was better and faster for same-identity images in oblique as well as in frontal views (experiment 1), and matching identity was better and faster for same-expression images in oblique as well as in frontal views (experiment 2). The discussion focuses on the implications of these results for the structural encoding of facial identity and facial expressions.

The goal of this work was to study white matter maturation in young children with autism following previous reports of increased cerebral volume during early development, as well as arguments for abnormal neural growth patterns and regulation at this critical developmental period. We applied diffusion tensor imaging (DTI) and high b value diffusion-weighted imaging (DWI) to young children diagnosed with autism and to a typically developing (TD) control group. Fractional anisotropy (FA), probability and displacement were measured in overall analysis as well as in regions of interest (ROI). Individual data points of children with autism were compared to the developmental curves obtained from typically developing children. Increased restriction, reflected in significantly increased FA and probability along with reduced displacement values, was detected in overall analysis as well as in several brain regions. Increased restriction, suggesting an early and accelerated abnormal maturation of white matter, was more dominant in the left hemisphere and was mainly detected in the frontal lobe. No changes were detected in the occipital lobes. These results support previous claims of abnormal brain overgrowth in young children with autism and are in contrast to the decreased restricted diffusion reported in previous studies in adolescent with autism.