Editorial Perspective: Another look at 'optimal outcome' in autism spectrum disorder.

This paper addresses the hypothesis that autism spectrum disorder features follow multiple long-term developmental trajectories, including an absence of symptoms that were present in childhood, by the time of adolescence. In early work on this topic, this circumstance was called an 'optimal outcome'. To better reflect the reality of multiple excellent outcomes regardless of whether autism spectrum disorder features are present or absent, including autonomy, daily living skills, communication skills, and relationships and employment/activities outside the home, the terminology 'loss of autism diagnosis' (LAD) has been proposed as a substitute. The paper also contextualizes an LAD outcome within research, practice and advocacy.

Early and Repeated Screening Detects Autism Spectrum Disorder.

OBJECTIVE: To evaluate timing and accuracy of early and repeated screening for autism spectrum disorder (ASD) during well-child visits. STUDY DESIGN: Using a longitudinal study design, toddlers (n = 5784) were initially screened at 12 (n = 1504), 15 (n = 1228), or 18 (n = 3052) months during well-child visits, and rescreened at 18, 24, and 36 months. Of those screened, 368 toddlers attended an ASD evaluation after a positive screen and/or a provider concern for ASD at any visit. RESULTS: Screens initiated at 12 months yielded an ASD diagnosis significantly earlier than at 15 months (P = .003, d = 0.99) and 18 months (P < .001, d = 0.97). Cross-group overall sensitivity of the initial screen was .715 and specificity was .959. Repeat screening improves sensitivity (82.1%), without notably decreasing specificity (all >93.5%). Screening at 18 months resulted in significantly higher positive predictive value than at 12 months (X2 (1, n = 221) = 9.87, P = .002, OR = 2.60) and 15 months (X2 (1, n = 208) = 14.57, P < .001, OR = 3.67). With repeat screening, positive predictive value increased for all screen groups, but the increase was not significant. CONCLUSIONS: Screening as early as 12 months effectively identifies many children at risk for ASD. Children screened at 12 months receive a diagnosis of ASD significantly earlier than peers who are first screened at later ages, facilitating earlier intervention. However, as the sensitivity is lower for a single screen, screening needs to be repeated.

What categorical induction variability reveals about typical and atypical development.

Categorical induction abilities are robust in typically developing (TD) preschoolers, while children with Autism Spectrum Disorders (ASD) frequently perform inconsistently on tasks asking for the transference of traits from a known category member to a new example based on shared category membership. Here, TD five-year-olds and six-year-olds with ASD participated in a categorical induction task; the TD children performed significantly better and more consistently than the children with ASD. Concurrent verbal and nonverbal tests were not significant correlates; however, the TD children's shape bias performance at two years of age was significantly positively predictive of categorical induction performance at age five. The shape bias, the tendency to extend a novel label to other objects of the same shape during word learning, appears linked with categorical induction ability in TD children, suggesting a common underlying skill and consistent developmental trajectory. Word learning and categorical induction appear uncoupled in children with ASD.

Assessing Child Postural Variability: Development, Feasibility, and Reliability of a Video Coding System.

AIMS: Postural variability is central to children's locomotion, motor control, and environmental exploration, and lacks standardized methods for systematic assessment. The purpose of this study was to develop and evaluate the feasibility and interrater reliability of Child Posture Variability Coding (CPVC), a method of quantifying postural variability in young children. METHOD: Videos of parent-child play interactions obtained from a longitudinal study investigating language acquisition in typically developing (TD) children and children with autism spectrum disorder (ASD) were used to develop 33 codes for children's voluntary changes in static and dynamic postures. Interrater reliability was calculated for three raters who independently coded 10 randomly selected videos of children aged 23 to 48 months (TD: n = 5, median = 35, IQR = 12.5; ASD: n = 5, median = 35, IQR = 6.75). RESULTS: Overall, CPVC demonstrated excellent interrater reliability (Krippendorff's α > 0.90). Among all codes developed, five codes (i.e., sit-half, sit-other, crawl, cruise, and supported walk) were not observed by any coders in the sample, but were kept in the coding scheme to reflect normal developmental milestones. CONCLUSIONS: CPVC is a reliable, feasible method of quantifying postural variability in young children with and without neurodevelopmental disorders in naturalistic contexts.

Emotional contagion in children with autism spectrum disorder varies with stimulus familiarity and task instructions.

Although deficits in cognitive empathy are well established in individuals with autism spectrum disorder (ASD), the literature on emotional empathy, or emotional contagion, in individuals with ASD is sparse and contradictory. The authors tested susceptibility to contagious yawning and laughter in children with ASD (n = 60) and typically developing (TD) children (n = 60), ages 5-17 years, under various conditions, to elucidate factors that may affect emotional contagion in these populations. Although TD children showed equal amounts of emotional contagion across conditions, children with ASD were highly influenced by the familiarity of the target stimulus, as well as task instructions that encourage eye gaze to target. More specifically, children with ASD exhibited less contagious yawning and laughter than their TD peers except when their attention was explicitly directed to the eyes or (and even more so) when their parents served as the stimulus targets. The authors explore the implications of these findings for theories about the mechanisms underlying empathic deficits in ASD as well as the clinical implications of having parents involved in treatment.

Facilitating Autism Research.

Early autism research focused on behavior and cognition. In recent decades, the pace of research has accelerated, and advances in imaging and genetics have allowed the accumulation of biological data. Nevertheless, a coherent picture of the syndrome at either phenotypic or biological level has not emerged. We see two fundamental obstacles to progress in basic understanding of autism. First, the two defining features (impairment in social interactions and communication, and restricted, repetitive behaviors and interests) are historically seen as integrally related. Others hold that these two major traits are fractionable and must be studied independently, casting doubt on autism as a coherent syndrome. Second, despite much recent research on brain structure and function, environmental factors, and genetics/genomics, findings on the biological level have not generally aligned well with those on the phenotypic level. In the first two sections, we explore these challenges, and in the third section, we review approaches that may facilitate progress, such as (1) including in studies all individuals defined by social impairment without regard to repetitive behaviors, (2) forming narrowly defined subtypes by thorough characterization on specific features, both diagnostic and non-diagnostic, (3) focusing on characteristics that may be relatively robust to environmental influence, (4) studying children as early as possible, minimizing environmental influence, and including longitudinal course as an important part of the phenotype, (5) subtyping by environmental risk factors, (6) distinguishing between what participants can do and what they typically do, and (7) aggregating large data sets across sites. (JINS, 2017, 23, 903-915).

The role of maternal input in the development of wh-question comprehension in autism and typical development.

Social deficits have been implicated in the language delays and deficits of children with autism (ASD); thus, the extent to which these children use language input in social contexts similarly to typically developing (TD) children is unknown. The current study investigated how caregiver input influenced the development of wh-question comprehension in TD children and language-matched preschoolers with ASD. Children were visited at four-month intervals over 1.5 years; mother-child play sessions at visits 1-2 were coded for maternal wh-question use. At visits 3-5 children watched videos in the Intermodal Preferential Looking paradigm, to assess their comprehension of subject and object wh-questions. Mothers' use of wh-questions with verbs and complex wh-questions positively predicted wh-question comprehension in the TD group; in contrast, mothers' use of wh-questions with 'be' as the main verb negatively predicted wh-question comprehension in the ASD group. Thus, TD children and children with ASD appear to use their linguistic input differently.

Autism Severity and its Relationship to Disability.

Autism severity is currently defined and measured based exclusively on the severity levels of the two core symptom domains: social-communication and restricted or repetitive patterns of behaviors and interests. Autistic individuals, however, are often diagnosed with other medical, developmental, and psychological co-occurring conditions. These additional challenges such as intellectual disability, limited expressive and/or receptive language, and anxiety disorders, can have a tremendous impact on the day-to-day lives of autistic individuals, for both their adaptive functioning as well as their sense of wellbeing. Furthermore, the initial presentation of core symptoms and their likelihood of changing over time are influenced by the presence of such co-occurring conditions. In order to truly understand how a person's autism impacts their life, both core symptoms as well as other challenges should be considered. This approach was recently taken by The Lancet Commission on the future of care and clinical research in autism, which proposed the term "profound autism" for a subgroup of individuals presenting with high core symptom severity, co-occurring intellectual disability, and little or no language, who require extensive long-term care. Considering other individual factors such as daily living skills, specific support needs and environmental resources would also enhance the evaluation of disability in autistic individuals. As currently employed in the assessment of intellectual disability, a multidimensional approach to autism could provide a more comprehensive system for classification of impairment. At present, however, there is no formal way to designate the combined effect of these different aspects of autism on a person's life. A comprehensive outlook that acknowledges impairments, capabilities, co-occurring conditions, and environmental factors would be useful for identifying subgroups of individuals as well as for determining individual needs and strengths in clinical assessments. Lay Summary: The severity of a person's autism is currently defined based on the severity of their core autism symptoms: impaired social-communication and the presence of restricted or repetitive patterns of behaviors and interests. But autistic people often face additional challenges such as intellectual disability, epilepsy, and anxiety disorder, that considerably impact their everyday life, wellbeing, and the need for support. A more complete view of autism severity, one that includes core symptoms as well as additional challenges, could help identify meaningful sub-groups of autistic individuals and could be useful in clinical care. Appeared originally in Autism Res 2023; 16:685-696.

Categorizing and identifying preferred interests in autistic toddlers.

Preferred interests are characteristic of autism spectrum disorder and are reported by parents starting at an early age. However, limited research has explored the presentation of preferred interests in toddlerhood. Previous literature suggests that both the intensity and type of preferred interests held by autistic individuals differ from those held by peers with developmental delay and no diagnosis and that autistic interests are more unusual in nature. While preferred interests are seen in typical child development, previous research suggests that the presence of preferred interests in children with no diagnosis declines with age. Literature also indicates that the sex and cognitive ability of autistic children influences preferred interests. Identification of early preferred interests commonly held by autistic toddlers could serve as a useful clinical indicator of future diagnosis. This article explored whether diagnostic group, age, sex, and cognitive ability predict the likelihood that parents reported preferred interests in children aged 12-36 months with diagnoses of autism, developmental delay, and those with no diagnosis. Additionally, we explored potential diagnostic group differences in interest type. Results suggest that diagnostic group, but not age, sex, or cognitive ability, predicts the likelihood that parents report preferred interests. No differences in the type of interests among diagnostic groups were identified. These results support the use of preferred interests as an early sign of autism but suggest that interest type may not be a helpful clinical indicator of autism in toddlerhood.

Development of a school-age extension of the Modified Checklist for Autism in Toddlers through expert consensus and stakeholder input.

LAY ABSTRACT: The American Academy of Pediatrics recommends universal screening to identify children at higher likelihood for autism at 18- and 24-month well-child visits. There are many children, however, that are missed during this toddler age who do not get diagnosed until much later in development, delaying access to autism-specific interventions. Currently, brief measures for universal autism screening for school-age children, however, are lacking. In this project, we adapted a commonly used autism screener for toddlers, the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F), to be used for school-age children. This measure, called the M-CHAT-School (M-CHAT-S), is a parent- and teacher-report questionnaire to be used to screen for autism in school-age children aged 4 to 8 years of age. M-CHAT-S was developed through feedback from autism experts, as well as interviews with parents and teachers to provide input on the items. Two versions of M-CHAT-S were developed, one for verbally fluent and one for minimally verbal school-age children. M-CHAT-S is a brief measure, with updated items to reflect changes in the way experts think and talk about autism, making it a useful measure to use for autism screening in elementary aged children. The next steps include further testing to ensure that M-CHAT-S performs well in identifying children with increased likelihood of autism, after which it will be made available to parents, educators, and other professionals.

Accuracy of initial diagnostic impressions of autism in toddlers and behaviors that inform these impressions.

Clinicians form initial impressions about a child's diagnosis based on behavioral features, but research has not yet identified specific behaviors to guide initial diagnostic impressions. Participants were toddlers (N = 55, mean age 22.9 months) from a multi-site early detection study, referred for concern for ASD due to screening or parent/provider concern. Within 5 min of meeting a child, clinicians noted ASD or non-ASD impression, confidence in impression, and behaviors that informed their impression. These clinicians also determined final diagnoses for each child. When a child's final diagnosis was ASD (n = 35), senior clinicians formed an initial impression of ASD in 22 cases (63%) but missed 13 cases (37%). When final diagnosis was non-ASD (n = 20), senior clinicians made an initial impression of non-ASD in all cases (100%). Results were similar among junior clinicians. Senior and junior clinicians used the same behaviors to form accurate impressions of ASD and non-ASD: social reciprocity, nonverbal communication, and eye contact. Senior clinicians additionally used focus of attention when forming accurate impressions of ASD and non-ASD; junior clinicians used this behavior only when forming accurate non-ASD impressions. Clinicians' initial impressions of ASD are very likely to be consistent with final diagnoses, but initial impressions of non-ASD need follow-up. Toddlers who show all four atypical behaviors (social reciprocity, nonverbal communication, eye contact, and focus of attention) might receive expedited ASD diagnoses. However, presence of apparently typical behaviors should not rule out ASD; for some children a longer evaluation is necessary to allow for more opportunities to observe subtle social behavior.

Optimal outcome in individuals with a history of autism.

BACKGROUND: Although autism spectrum disorders (ASDs) are generally considered lifelong disabilities, literature suggests that a minority of individuals with an ASD will lose the diagnosis. However, the existence of this phenomenon, as well as its frequency and interpretation, is still controversial: were they misdiagnosed initially, is this a rare event, did they lose the full diagnosis, but still suffer significant social and communication impairments or did they lose all symptoms of ASD and function socially within the normal range? METHODS: The present study documents a group of these optimal outcome individuals (OO group, n=34) by comparing their functioning on standardized measures to age, sex, and nonverbal IQ matched individuals with high-functioning autism (HFA group, n=44) or typical development (TD group, n=34). For this study, 'optimal outcome' requires losing all symptoms of ASD in addition to the diagnosis, and functioning within the nonautistic range of social interaction and communication. Domains explored include language, face recognition, socialization, communication, and autism symptoms. RESULTS: Optimal outcome and TD groups' mean scores did not differ on socialization, communication, face recognition, or most language subscales, although three OO individuals showed below-average scores on face recognition. Early in their development, the OO group displayed milder symptoms than the HFA group in the social domain, but had equally severe difficulties with communication and repetitive behaviors. CONCLUSIONS: Although possible deficits in more subtle aspects of social interaction or cognition are not ruled out, the results substantiate the possibility of OO from autism spectrum disorders and demonstrate an overall level of functioning within normal limits for this group.

Autism severity and its relationship to disability.

Autism severity is currently defined and measured based exclusively on the severity levels of the two core symptom domains: social-communication and restricted or repetitive patterns of behaviors and interests. Autistic individuals, however, are often diagnosed with other medical, developmental, and psychological co-occurring conditions. These additional challenges such as intellectual disability, limited expressive and/or receptive language, and anxiety disorders, can have a tremendous impact on the day-to-day lives of autistic individuals, for both their adaptive functioning as well as their sense of wellbeing. Furthermore, the initial presentation of core symptoms and their likelihood of changing over time are influenced by the presence of such co-occurring conditions. In order to truly understand how a person's autism impacts their life, both core symptoms as well as other challenges should be considered. This approach was recently taken byThe Lancet Commission on the future of care and clinical research in autism, which proposed the term "profound autism" for a subgroup of individuals presenting with high core symptom severity, co-occurring intellectual disability, and little or no language, who require extensive long-term care. Considering other individual factors such as daily living skills, specific support needs and environmental resources would also enhance the evaluation of disability in autistic individuals. As currently employed in the assessment of intellectual disability, a multidimensional approach to autism could provide a more comprehensive system for classification of impairment. At present, however, there is no formal way to designate the combined effect of these different aspects of autism on a person's life. A comprehensive outlook that acknowledges impairments, capabilities, co-occurring conditions, and environmental factors would be useful for identifying subgroups of individuals as well as for determining individual needs and strengths in clinical assessments.

Caregiver linguistic alignment to autistic and typically developing children: A natural language processing approach illuminates the interactive components of language development.

BACKGROUND: Language development is a highly interactive activity. However, most research on linguistic environment has focused on the quantity and complexity of linguistic input to children, with current models showing that complexity facilitates language in both typically developing (TD) and autistic children. AIMS: After reviewing existing work on caregiver engagement of children's utterances, we aim to operationalize such engagement with automated measures of linguistic alignment, thereby providing scalable tools to assess caregivers' active reuse of their children's language. By assessing the presence of alignment, its sensitivity to the child's individual differences and how well it predicts language development beyond current models across the two groups, we showcase the usefulness of the approach and provide initial empirical foundations for further conceptual and empirical investigations. METHODS: We measure lexical, syntactic and semantic types of caregiver alignment in a longitudinal corpus involving 32 adult-autistic child and 35 adult-TD child dyads, with children between 2 and 5 years of age. We assess the extent to which caregivers repeat their children's words, syntax, and semantics, and whether these repetitions predict language development beyond more standard predictors. RESULTS: Caregivers tend to re-use their child's language in a way that is related to the child's individual, primarily linguistic, differences. Caregivers' alignment provides unique information improving our ability to predict future language development in both typical and autistic children. CONCLUSIONS: We provide evidence that language development also relies on interactive conversational processes, previously understudied. We share carefully detailed methods, and open-source scripts so as to systematically extend our approach to new contexts and languages.

Repeat After Me? Both Children With and Without Autism Commonly Align Their Language With That of Their Caregivers.

Linguistic repetitions in children are conceptualized as negative in children with autism - echolalia, without communicative purpose - and positive in typically developing (TD) children - linguistic alignment involved in shared engagement, common ground and language acquisition. To investigate this apparent contradiction we analyzed spontaneous speech in 67 parent-child dyads from a longitudinal corpus (30 minutes of play activities at 6 visits over 2 years). We included 32 children with autism and 35 linguistically matched TD children (mean age at recruitment 32.76 and 20.27 months). We found a small number of exact repetitions in both groups (roughly 1% of utterances across visits), which increased over time in children with autism and decreased in the TD group. Partial repetitions were much more frequent: children reused caregivers' words at high rates regardless of diagnostic group (24% of utterances at first visit), and this increased in frequency (but not level) over time, faster for TD children (at final visit: 33% for autism, 40% for TD). The same happened for partial repetition of syntax and semantic alignment. However, chance alignment (as measured by surrogate pairs) also increased and findings for developmental changes were reliable only for syntactic and semantic alignment. Children with richer linguistic abilities also displayed a higher tendency to partially re-use their caregivers' language (alignment rates and semantic alignment). This highlights that all children commonly re-used the words, syntax, and topics of their caregivers, albeit with some quantitative differences, and that most repetition was at least potentially productive, with repeated language being re-contextualized and integrated with non-repeated language. The salience of echolalia in ASD might be partially explained by slight differences in frequency, amplified by lower semantic alignment, persistence over time, and expectations of echolalia. More in-depth qualitative and quantitative analyses of how repetitions are used and received in context are needed.

Pragmatic language and associations with externalizing behaviors in autistic individuals and those who have lost the autism diagnosis.

Background: Pragmatic language weaknesses, a core feature of autism spectrum disorder (ASD), are implicated in externalizing behavior disorders (Gremillion & Martel, 2014). Particularly in a clinical setting, these co-occurring externalizing disorders are very common in autism; rates of Attentional Deficit-Hyperactive Disorder (ADHD) and Oppositional Defiant Disorder (ODD) are as high as 83% (ADHD) and 73% (ODD; Joshi et al., 2010). It is possible that pragmatic language weaknesses impact the ability to effectively communicate one's needs, which may lead autistic children to utilize externalizing behaviors in order to achieve a desired outcome (Ketelaars et al., 2010; Rodas et al., 2017). Methods: The aim of the current study is to investigate the relationship between pragmatic language, assessed via multiple modalities, and externalizing behaviors, assessed by parent interview, in youth with autistic (n=33) or neurotypical (NT; n=34) developmental histories, along with youth diagnosed with autism, who lost the diagnosis (LAD) by adolescence (n=31). Results: The autism group had significantly more pragmatic language difficulties, and more externalizing behaviors and disorders; ADHD symptoms were particularly more prevalent, while LAD and NT groups did not differ. Challenges in pragmatic language abilities were associated with more externalizing symptoms when controlling for other facts that typically influence such symptoms, including nonverbal cognition, structural language, executive functioning, and autistic characteristics, but did not remain when age was included in the model. Conclusions: We discuss the mechanisms underlying difficult-to-manage externalizing behaviors and implications for interventions and long-term outcomes for youth with and without a history of autism.

Initial diagnostic impressions of trainees during autism evaluations: High specificity but low sensitivity.

Reducing the age of first autism diagnosis facilitates access to critical early intervention services. A current "waitlist crisis" for autism diagnostic evaluation thus demands that we consider novel use of available clinical resources. Previous work has found that expert autism clinicians can identify autism in young children with high specificity after only a brief observation; rapid identification by non-experts remains untested. In the current study, 252 children ages 12-53 months presented for a comprehensive autism diagnostic evaluation. We found that junior clinicians in training to become autism specialists (n = 29) accurately determined whether or not a young child would be diagnosed with autism in the first five minutes of the clinic visit in 75% of cases. Specificity of brief observations was high (0.92), suggesting that brief observations may be an effective tool for triaging young children toward autism-specific interventions. In contrast, the lower negative predictive value (0.71) of brief observations, suggest that they should not be used to rule out autism. When trainees expressed more confidence in their initial impression, their impression was more likely to match the final diagnosis. These findings add to a body of literature showing that clinical observations of suspected autism should be taken seriously, but lack of clinician concern should not be used to rule out autism or overrule other indicators of likely autism, such as parent concern or a positive screening result.

An initial trial of OPT-In-Early: An online training program for caregivers of autistic children.

LAY ABSTRACT: Early intervention can help children learn language and improve social communication. However, many barriers, including the expense of services and an insufficient number of providers, prohibit families from accessing services when their children are young. We developed a comprehensive online program for caregivers of autistic children. The program, Online Parent Training in Early Behavioral Intervention (OPT-In-Early), uses text and video demonstrations to teach caregivers effective methods for improving their children's language, social, and adaptive skills (e.g. using utensils, toilet training), and reducing their children's disruptive behavior. Sixty-three parents from three states participated in the study. Half of the parents received access to the OPT-In-Early program. After 4 months, parents who had access to the OPT-In-Early program learned more effective intervention strategies, and started using these strategies during interactions with their children, than parents who did not receive access to the program. Parent participation in OPT-In-Early did not significantly influence children's social communication compared to children whose parents did not have access to OPT-In-Early. A longer duration of parents using learned intervention skills with their children may be needed for children's social communication skills to improve.

The Shape Bias is Affected by Differing Similarity Among Objects.

Previous research has demonstrated that visual properties of objects can affect shape-based categorization in a novel-name extension task; however, we still do not know how a relationship between visual properties of objects affects judgments in a novel-name extension task. We examined effects of increased visual similarity among the target and test objects in a shape bias task in young children and adults. Experiment 1 assessed college students with sets of objects whose similarity between target and test objects was either low or high similarity. Adults preferred shape when the similarity among objects was minimized. Experiment 2 tested 24- month-olds in their use of the shape bias using the Intermodal Preferential Looking Paradigm. Children showed a shape bias only with items whose similarity to each other was low. These findings suggest that the visual properties of objects affect shape bias performance.