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Infants at elevated likelihood for or later diagnosed with autism typically have smaller vocabularies than their peers, as shown by the Mullen Scales of Early Learning (MSEL) and the MacArthur-Bates Communicative Developmental Inventory (CDI). However, the extent to which MSEL and CDI scores align remains unclear, especially across clinical and non-clinical populations. This study examined whether the concurrent validity of the MSEL and CDI differs based on autism likelihood and diagnosis. Data from 720 14-month-old infants were analysed, grouped by likelihood (elevated vs. typical) and diagnosis at 36 months (diagnosed vs. not diagnosed). Vocabulary scores were compared across both likelihood and diagnostic groups. Moderate correlations were observed between the MSEL and CDI in most groups (r_s range = [.34–.58]). One exception was that the expressive scores of elevated likelihood infants on the MSEL and CDI were more closely associated than the expressive scores of typical likelihood infants. Diagnosed infants had lower vocabulary scores than non-diagnosed peers on both the MSEL and CDI. The elevated likelihood group showed lower scores on the MSEL but not the CDI compared to typical likelihood infants. The moderate correlations suggest that the MSEL and CDI assess different aspects of language in infancy. These associations were weaker than previously reported in autistic children. Differences in vocabulary scores across likelihood and diagnostic groups highlight the need for further research to understand the association between these measures.

Being looked at is an important communicative signal, and attenuated responses to such direct gaze have been suggested as an early sign of autism. Using live eye tracking, we examined whether direct gaze elicits different gaze responses in infants at ages 10, 14 and 18 months with and without later autism in real-life interaction. The sample consisted of 169 infants: 35 with elevated likelihood of autism and subsequent diagnosis, 94 without subsequent diagnosis and 40 with typical likelihood of autism. Infants in all groups tended to look more towards the adult’s face shortly after the direct gaze occurred. Neither how much nor how quickly the infants responded to the direct gaze differentiated the without elevated likelihood of autism and subsequent diagnosis and with elevated likelihood of autism and subsequent diagnosis groups. Infants in the typical likelihood group looked more at the face after the direct-gaze event than infants in the two elevated likelihood groups, but this result is tentative. In an exploratory analysis, infants in the elevated likelihood of autism and subsequent diagnosis group looked away quicker from faces with direct gaze than infants in the typical likelihood group, but this measure did not correlate with dimensional autism or differentiate between the two elevated likelihood groups. The current results suggest that attenuated behavioural responses to direct gaze in infancy are neither strong nor specific early markers of autism.

Lay abstract

When other people look directly towards us, we often respond by looking back at them, and such direct-gaze responses are important for establishing eye contact. Atypical eye contact is common in autism, but how and when this aspect of autism develops is not well understood. Here, we studied whether how much and how quickly infants respond to others’ direct gaze is associated with autism in toddlerhood. We did this by measuring direct-gaze responses in a playful social interaction using live eye tracking. The study included 169 infants, of whom 129 had an elevated likelihood of developing autism due to having a first-degree family member with the condition, and 40 with typical likelihood of autism. In the elevated likelihood group, 35 were diagnosed with autism spectrum disorder at 3 years of age, and 94 were not. The results showed that infants in all three groups tended to increase their looking towards the adult’s face after the adult looked directly at them. However, neither how much nor how quickly the infants responded to direct gaze by looking back at the adult reliably differentiated the infants with or without subsequent autism. While infants in the elevated likelihood of autism and subsequent diagnosis group tended to look away quicker from faces with direct gaze than infants in the typical likelihood group, this measure did not differentiate between the two elevated likelihood groups. We interpret the results as supporting the view that atypical direct-gaze responses are not early markers of autism.

BackgroundFrom birth, infants orient preferentially to faces, and when looking at the face, they attend primarily to eyes and mouth. These areas convey different types of information, and earlier research suggests that genetic factors influence the preference for one or the other in young children. MethodsIn a sample of 535 5-month-old infant twins, we assessed eye (relative to mouth) preference in early infancy, i.e., before neural systems for social communication and language are fully developed. We investigated the contribution of genetic and environmental factors to the preference for looking at eyes, and the association with concurrent traits and follow-up measures. ResultsEye preference was independent from all other concurrent traits measured, and had a moderate-to-high contribution from genetic influences (A = 0.57; 95% CI: 0.45, 0.66). Preference for eyes at 5 months was associated with higher parent ratings of receptive vocabulary at 14 months. No statistically significant association with later autistic traits was found. Preference for eyes was strikingly stable across different stimulus types (e.g., dynamic vs. still), suggesting that infants' preference at this age does not reflect sensitivity to low-level visual cues. ConclusionsThese results suggest that individual differences in infants' preferential looking to eyes versus mouth to a substantial degree reflect genetic variation. The findings provide new leads on both the perceptual basis and the developmental consequences of these attentional biases.

Background

Pragmatic language is key for adaptive communication, but often compromised in neurodevelopmental conditions such as autism spectrum disorder (ASD). Decontextualized language—to talk about events and things beyond here and now—develops early in childhood and can be seen as a pre-pragmatic ability. Little is known about the factors that contribute to decontextualized language use in toddlers and whether these are different from factors contributing to general language development.

Methods

We studied longitudinal associations between parent-rated core language and non-verbal socio-communicative abilities at 14 months of age, and decontextualized language use at 24 months of age in children with typical and elevated likelihood of ASD (total N = 303). Using twin modelling, we also investigated genetic and environmental contributions on decontextualized language and grammar use in two-year-old twin pairs (total N = 374).

Results

Core language ability was a strong predictor of later decontextualized language use in both children with and without an elevated likelihood of ASD. In contrast, social communication was only a significant predictor of decontextualized language use for children with low levels of core language. This pattern was specific to decontextualized language, and not replicated in prediction of concurrent grammatical ability. Further, there was a large genetic influence on decontextualized language at 2 years of age, which mostly overlapped with the genetic influences on grammatical ability. Shared environment influences were significant for grammatical ability, but not found on decontextualized language. In children with an elevated likelihood of ASD, decontextualized language use was negatively associated with autistic symptoms.

Conclusions

This study suggests that decontextualized language is developmentally associated with, yet dissociable from, more general language development measured as grammatical ability. Already at 2 years of age, parental ratings of decontextualized language is associated to clinician-rated symptoms of ASD.

Looking at the mouth region is thought to be a useful strategy for speech-perception tasks. The tendency to look at the eyes versus the mouth of another person during speech processing has thus far mainly been studied using screen-based paradigms. In this study, we estimated the eye-mouth-index (EMI) of 38 adult participants in a live setting. Participants were seated across the table from an experimenter, who read sentences out loud for the participant to remember in both a familiar (English) and unfamiliar (Finnish) language. No statistically significant difference in the EMI between the familiar and the unfamiliar languages was observed. Total relative looking time at the mouth also did not predict the number of correctly identified sentences. Instead, we found that the EMI was higher during an instruction phase than during the speech-processing task. Moreover, we observed high intra-individual correlations in the EMI across the languages and different phases of the experiment. We conclude that there are stable individual differences in looking at the eyes versus the mouth of another person. Furthermore, this behavior appears to be flexible and dependent on the requirements of the situation (speech processing or not).

Background Studies of infants with an elevated likelihood of autism spectrum disorder can identify basic developmental processes that are associated with subsequently emerging clinical symptoms. Atypical responsiveness to sounds in infancy is such a potential early marker of autism. Here, we used pupillometry to quantify reactivity to social and nonsocial sounds in infants with a subsequent diagnosis. Previous research suggest that pupil dilation reflects attentional alerting, and link it to the locus coeruleus norepinephrine system. Methods We measured pupil dilation responses to child-directed speech and the sound of running water; sounds infants often hear in their everyday life. The final sample consisted of 99 ten-month-old infants (52 girls), of whom 68 had an elevated likelihood of autism and 31 were typically developing low-likelihood infants. At follow-up (36 months of age), 18 children in the elevated-likelihood group were diagnosed with autism. Results Compared to infants without diagnosis, the infants who were subsequently diagnosed with autism had larger pupil dilation when listening to nonsocial sounds, while reactivity to speech was strikingly similar between groups. In the total sample, more pupil dilation to the nonsocial sound was associated with higher levels of autistic symptoms. We also found that on a trial-by-trial basis, across all conditions and groups, more pupil dilation was associated with making fewer gaze shifts. Conclusions This study did not find evidence of atypical pupillary reactivity to child-directed speech early in life in autism. Instead, the results suggest that certain nonsocial sounds elicit atypically strong alerting responses in infants with a subsequent autism diagnosis. These findings may have important theoretical and clinical implications.