Autism screening and diagnostic outcomes among toddlers born preterm.

AIM: To examine the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F), with follow-up screening and diagnostic outcomes for children born preterm. A secondary aim was to examine diagnostic evaluation attendance after screening to inform clinical practice. METHOD: Using a cross-sectional design, 9725 toddlers (4951 males; 4774 females) whose gestational age was reported were screened at 15-month, 18-month, or 24-month well-child visits; screen-positive children were invited for an autism evaluation. Screening measure performance and diagnostic outcomes were evaluated according to preterm classification (Screening: nExtPreterm = 111; nVeryPreterm = 186; nModPreterm = 1122; nFullTerm = 8306; Evaluation: nExtPreterm = 27; nVeryPreterm = 21; nModPreterm = 86; nFullTerm = 301). RESULTS: Screen-positive rates were highest for children born extremely preterm (51.35%) and lowest for children born at term (6.95%). Evaluation attendance for screen-positive cases did not differ according to preterm classification. Rates of autism diagnoses differed depending on preterm birth status: for children born extremely preterm, it was 16.05%; for children born very preterm, it was 2.00%; for children born moderately preterm, it was 2.89%; and for children born at term, it was 1.49%. M-CHAT-R/F sensitivity decreased with increasing gestational age, whereas specificity improved with increasing gestational age. Positive predictive value was highest for children born extremely preterm and children born at term. Negative predictive value was consistently strong across all groups. The likelihood ratio for positive screening increased with gestational age. INTERPRETATION: The sensitivity and specificity of the M-CHAT-R/F are acceptable in toddlers born preterm. Autism screening-positive rates and prevalence increased with earlier preterm birth. Those born extremely preterm showed the greatest likelihood of an autism diagnosis; screening should not be delayed based on adjusted age.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Brief report: Parent-guided movements during play with children with autism spectrum disorder.

Background: Children with autism spectrum disorder (ASD) demonstrate social and communication impairments from an early age. While researchers have long investigated parenting behaviors in relation to children's social and communication development, fewer studies have examined the relevance of movement-based parenting behaviors to facilitating communication and social engagement with young children. The present study aimed to investigate: (1) parent-guided movements (PGMs) within dyads of parents and typically developing (TD) children and children with ASD; and (2) children's ASD diagnostic and receptive language scores as predictors of PGM frequency. Method: Video-recorded play interactions of 33 TD dyads (mean age: 20.4 months) and 31 dyads with ASD (mean age: 32.6 months) were matched on child's expressive language. Data were obtained from a longitudinal study on developmental language trajectories in ASD and coded for PGMs. Results: Overall, parents of children with ASD initiated PGMs more frequently than parents of TD children during play (U = 269.00, z = - 3.58, p < 0.001). PGM frequency was predicted by children's ADOS scores (X 2 = 5.46, p = 0.02, OR = 1.26, 95% CI [1.04, 1.54]) and receptive language (X 2 = 4.15, p = 0.04, OR = 5.43, 95% CI [1.10, 27.67]). Conclusions: Findings suggest that parents of children with ASD and low receptive language may utilize more movement-based strategies to compensate for their children's impaired social engagement and verbal comprehension. This study offers insight on a particular movement-based modality characterizing ASD dyads that can be used as a measure in parent-mediated interventions.

Validity of the Toddler Autism Symptom Inventory in Non-Hispanic White and Black Toddlers.

Racial disparities exist in autism diagnosis, and yet, the development of most diagnostic tools has not explicitly examined measurement equity between racial and ethnic groups. We examined the validity of the Toddler Autism Symptom Inventory (TASI), a semi-structured interview developed for diagnosis of toddlers, in non-Hispanic Black/African American and non-Hispanic White children. After controlling for group differences in socio-economic status, no differences in diagnosis, age at diagnosis, mean developmental level, or autism severity were found. TASI ROC curves for both groups, in the overall sample, and in samples stratified by SES, showed high AUC values. Validity of two cutoff scores was acceptable. Lack of significant differences in TASI score or responses to individual items suggests similar symptomatology. These results provide early support for the use of the TASI in diagnostic evaluations of Black and White children.

Online administration of the ADOS for research with adolescents and adults in response to the pandemic.

This study evaluates an online ADOS-2 Module 4 administration. Adolescents and adults with (n = 24; 7 females) and without (n = 13; 5 females) a history of autism spectrum disorder (ASD) completed the ADOS-2 Module 4 via videoconference. Parents or caregivers completed the Parent/Caregiver Form of the Vineland Adaptive Behavior Scales and the Achenbach Adult Behavior Checklist. The ADOS-2 was reviewed and scored by five trained clinicians and supervised by a senior clinician with established research reliability. The autistic group's scores differed on ADOS total (Calibrated Severity Score, WPS instrument) and domain scores, KSADS domain scores, and Achenbach T-scores. Inter-rater reliability was "moderate" (κ = 0.732), and percentage item-wise agreement was r = 0.69. The online ADOS-2 showed significant convergence with parent-reported assessments of ASD-relevant symptoms and characteristics, suggesting it was a valid assessment. While any online assessments must be used with caution, results suggest that the approach described here could have sufficient validity and reliability to fill the urgent need to assess and evaluate ASD symptomatology, as one component of a thorough clinical evaluation of ASD-related behaviors. LAY SUMMARY: In this exploratory study, we asked whether it was possible to give the ADOS-2 to adolescents and adults in a completely online way. Results showed that expert clinicians agreed on 69% of ADOS-2 items; also, participants with autism had higher scores on all parts of the ADOS-2. The online ADOS-2 scores had strong and significant relationships with parents' reports of friendship and social skills. While we need more research that tests this method, this way of doing the ADOS-2 online may be useful for clinicians and researchers who have an urgent need to evaluate autism during the pandemic.

Structural language impairment in Autism Spectrum Disorder versus Loss of Autism Diagnosis: Behavioral and neural characteristics.

This study probed for structural language impairment using behavioral and functional neuroimaging methods in individuals with Autism Spectrum Disorder (ASD) and those diagnosed with ASD in childhood who no longer meet criteria for ASD, referred to as Loss of Autism Diagnosis (LAD1). Participants were drawn from Fein et al. (2013): ASD (n = 35), LAD (n = 31), and Neurotypical (NT; n = 34). Criteria for structural language impairment were: Scores ≤ 82 on Clinical Evaluation of Language Fundamentals-4 (CELF) Core Language, an omnibus measure of language; and scores ≤ 7 on CELF Recalling Sentences, a clinical marker of structural language impairment. Task-based fMRI examined lateralization of significantly activated language-related brain regions in groups with structural language impairment (LI2) versus normal-range language (LN3), collapsed across ASD, LAD1, and NT status. Results showed no ASD versus LAD group differences in the proportion of participants with structural language impairment according to either metric (Recalling Sentences or Core Language). Functional MRI results indicated greater left hemisphere lateralization within significantly activated regions in the LI2 group. Structural language abilities were not meaningfully associated with either social abilities or lifetime ADHD symptoms in LI2 subgroups, further suggesting the presence of structural language impairment. Findings indicate the presence of persistent structural language difficulty even in the absence of ASD symptoms in some individuals within the LAD1 group and unique patterns of language-related neural specialization for language function in LI2 relative to LN3.

Primary Care Clinician and Child Characteristics Impacting Autism Surveillance.

Early detection of autism provides access to early intervention and subsequently fewer lifelong challenges. However, disparities in screening have been associated with socioeconomic status (SES) and race, and disparities in surveillance have been associated with clinician knowledge and beliefs about autism identification. The present study examines associations between demographic variables and clinician beliefs, and agreement between screening results and clinician surveillance. Surveillance included activities used by the primary care clinicians (PCCs) to assess risk for autism. PCCs reported their beliefs about autism screening and identification, their sex, race, years in practice, and racial distribution of their patient population. Children's demographic information was also collected. PCCs identified children as having, or not having, an increased likelihood of autism, and parents of children completed an autism screener. Agreement between screening and surveillance results were examined across PCC, practice, and child demographics. Higher confidence in autism knowledge and screening resources, female PCC sex, and majority White practice patient demographics all predicted agreement between screening and surveillance. Female child sex and higher maternal education also predicted agreement between screening and surveillance. These findings highlight the importance of PCC screening beliefs and child and PCC demographics on the autism identification process.