Background

We evaluated early pragmatic language skills in preschool-age siblings of children with autism spectrum disorder (ASD), and examined correspondence between pragmatic language impairments and general language difficulties, autism symptomatology, and clinical outcomes.

Methods

Participants were younger siblings of children with ASD (high-risk, n = 188) or typical development (low-risk, n = 119) who were part of a prospective study of infants at risk for ASD; siblings without ASD outcomes were included in analyses. Pragmatic language skills were measured via the Language Use Inventory (LUI).

Results

At 36 months, the high-risk group had significantly lower parent-rated pragmatic language scores than the low-risk group. When defining pragmatic language impairment (PLI) as scores below the 10(th) percentile on the LUI, 35% of the high-risk group was identified with PLI versus 10% of the low-risk group. Children with PLI had higher rates of general language impairment (16%), defined as scores below the 10(th) percentile on the Receptive or Expressive Language subscales of the Mullen Scales of Early Learning, relative to those without PLI (3%), but most did not evidence general language impairments. Children with PLI had significantly higher ADOS scores than those without PLI and had higher rates of clinician-rated atypical clinical best estimate outcomes (49%) relative to those without PLI (15%).

Conclusions

Pragmatic language problems are present in some siblings of children with ASD as early as 36 months of age. As the new DSM-5 diagnosis of Social (Pragmatic) Communication Disorder (SCD) is thought to occur more frequently in family members of individuals with ASD, it is possible that some of these siblings will meet criteria for SCD as they get older. Close monitoring of early pragmatic language development in young children at familial risk for ASD is warranted.

Mother-infant interactions are a proximal process in early development and may be especially salient for children who are at risk for social difficulties (i.e. infant siblings of children with autism spectrum disorder). To inform how indices of maternal behaviors may improve parent-mediated interventions designed to mitigate autism spectrum disorder risk, the present study explored maternal social responsiveness ratings and social behaviors during dyadic play interactions. Dyads were recruited from families with at least one older child with autism spectrum disorder (high-risk group, n = 90) or families with no history of autism spectrum disorder (low-risk group, n = 62). As part of a prospective study, interactions were coded when infant siblings were 6, 9, and 12 months of age, for gaze, affect, vocalizations, and multimodal bids or responses (i.e. social smiles). Maternal social responsiveness was indexed via the Social Responsiveness Scale. Mothers in both risk groups had comparable Social Responsiveness Scale scores and social behaviors during play. Two maternal behaviors emerged as positive correlates of infant social behaviors and are thus of high relevance to parent-mediated interventions. Specifically, more maternal positive affect and the use of multimodal bids or responses were associated with more infant positive affect, vocalizations, gaze to face, and multimodal bids or responses.

Sleep problems are common in families raising children with Autism Spectrum Disorder (ASD). Clinicians often depend on parent reports of child sleep but minimal research exists to address the accuracy or biases in these reports. To isolate parent-report accuracy (from differences in sleep behaviors), the sleep of younger siblings were assessed within a two-group design. The present study compared parent diary reports of infant sibling sleep to videosomnography and actigraphy. In the high-risk group, families had at least one child with ASD and a younger sibling (n = 33). The low-risk comparison group had no family history of ASD (n = 42). We confirmed comparable sleep behaviors between the groups and used paired t tests, two-one-sided-tests (TOST), and Bland-Altman plots to assess parent report accuracy. The parameters of sleep onset, nighttime sleep duration, awakenings, morning rise time, and daytime sleep duration were evaluated. Diary and videosomnography estimates were comparable for nighttime sleep duration, morning rise time, and awakenings for both groups. Diary and actigraph estimates were less comparable for both groups. Daytime sleep duration estimates had the largest discrepancy with both groups reporting (on average) 40 additional minutes of sleep when compared to actigraphy estimates. In the present study, families raising children with ASD were just as accurate as other families when reporting infant sleep behaviors. Our findings have direct clinical implications and support the use of parent nighttime sleep reports.

In the first year of life, the ability to engage in sustained synchronous interactions develops as infants learn to match social partner behaviors and sequentially regulate their behaviors in response to others. Difficulties developing competence in these early social building blocks can impact later language skills, joint attention, and emotion regulation. For children at elevated risk for autism spectrum disorder (ASD), early dyadic synchrony and responsiveness difficulties may be indicative of emerging ASD and/or developmental concerns. As part of a prospective developmental monitoring study, infant siblings of children with ASD (high-risk group n = 104) or typical development (low-risk group n = 71), and their mothers completed a standardized play task when infants were 6, 9, and/or 12 months of age. These interactions were coded for the frequency and duration of infant and mother gaze, positive affect, and vocalizations, respectively. Using these codes, theory-driven composites were created to index dyadic synchrony and infant/maternal responsiveness. Multilevel models revealed significant risk group differences in dyadic synchrony and infant responsiveness by 12 months of age. In addition, high-risk infants with higher dyadic synchrony and infant responsiveness at 12 months received significantly higher receptive and expressive language scores at 36 months. The findings of the present study highlight that promoting dyadic synchrony and responsiveness may aid in advancing optimal development in children at elevated risk for autism. LAY SUMMARY: In families raising children with an autism spectrum disorder (ASD), younger siblings are at elevated risks for social communication difficulties. The present study explored whether social-communication differences were evident during a parent-child play task at 6, 9, and 12 months of age. For infant siblings of children with ASD, social differences during play were observed by 12 months of age and may inform ongoing monitoring and intervention efforts.

Infant social-communicative behavior, such as gaze to the face of an interactive partner, is an important early developmental skill. Children with autism spectrum disorder exhibit atypicalities in social-communicative behavior, including gaze and eye contact. Behavioral differences in infancy may serve as early markers of autism spectrum disorder and help identify individuals at highest risk for developing the disorder. Researchers often assess social-communicative behavior in a single interactive context, such as during assessment with an unfamiliar examiner or play with a parent. Understanding whether infant behavior is consistent across such contexts is important for evaluating the validity of experimental paradigms and the generalizability of findings from one interactive context/partner to another. We examined infant gaze to the face of a social partner at 6, 9, and 12 months of age in infants who were later diagnosed with autism spectrum disorder, as well as low- and high-risk infants without autism spectrum disorder outcomes, across two interactive contexts: structured testing with an unfamiliar examiner and semi-structured play with a parent. By 9 months, infant gaze behavior was significantly associated between the two contexts. By 12 months, infants without autism spectrum disorder outcomes exhibited higher mean rates of gaze to faces during parent-child play than Mullen testing, while the gaze behavior of the autism spectrum disorder group did not differ by context-suggesting that infants developing autism spectrum disorder may be less sensitive to context or interactive partner. Findings support the validity of assessing infant social-communicative behavior during structured laboratory settings and suggest that infant behavior exhibits consistency across settings and interactive partners.

The Children's Sleep Habits Questionnaire (CSHQ) is often used to assess sleep in children with autism spectrum disorder (ASD), but little is known about its factor structure in younger children with ASD. We evaluated alternative factor structures and measurement invariance for CSHQ items in 2- to 4-year-olds with ASD or typical development (TD). Bifactor models indicated subscales' variance was subsumed by a general factor predominantly reflecting sleep initiation and nighttime awakening items. A factor consisting of 7 of these items was measurement invariant across ASD and TD. Thus, comparisons between young children with ASD and TD is appropriate for a measure composed of 7 CSHQ items relating to sleep initiation and awakenings but not for other CSHQ item composites.

Objective

To examine longitudinal patterns of response to name from 6-24 months of age in infants at high and low risk for autism spectrum disorder (ASD).

Study design

A response to name task was tested at 6, 9, 12, 15, 18, and 24 months of age in 156 infant siblings of children with ASD (high-risk) or typical development (low-risk). At 36 months of age, participants were classified into 1 of 3 outcome groups: group with ASD (n = 20), high-risk group without ASD (n = 76), or low-risk group without ASD (n = 60). Differences in longitudinal performance were assessed using generalized estimating equations, and sensitivity and specificity for identifying ASD were calculated. Differences in age 36-month functioning were examined between infants who developed ASD and repeatedly vs infrequently failed to respond to name.

Results

At 9 months of age, infants developing ASD were more likely to fail to orient to their names, persisting through 24 months. Sensitivity/specificity for identifying ASD based on at least 1 failure between 12 and 24 months were estimated at .70 in this sample. One-half of the infants who developed ASD had repeated failures in this timeframe, and demonstrated lower age 36-month receptive language, and earlier diagnosis of ASD than infants with ASD who had infrequent failures.

Conclusions

In addition to recommended routine broad-based and ASD-specific screening, response to name should be regularly monitored in infants at risk for ASD. Infants who consistently fail to respond to their names in the second year of life may be at risk not only for ASD but also for greater impairment by age 3 years.

Background

The 'dysregulation profile' (DP) is a measure of emotional and behavioral dysregulation that may cut across diagnostic boundaries. Siblings of children with autism spectrum disorder (ASD) who do not develop ASD themselves are at risk for atypical outcomes including behavioral challenges and therefore may be a useful population in which to investigate the structure of the DP in preschoolers.

Methods

We sought to examine the factor structure and predictors of the DP in a sample enriched for a wide range of phenotypic variation-36-month-olds with and without family histories of ASD-and to determine whether children with genetic liability for ASD are at risk for a phenotype characterized by elevated dysregulation. Data were collected from 415 children with (n = 253) and without (n = 162) an older sibling with ASD, all without ASD themselves, at 18, 24, and 36 months of age.

Results

Our findings replicate prior reports, conducted in predominantly clinically referred and older samples, supporting the superiority of a bifactor model of the DP in the preschool period compared to the second-order and one-factor models. Examiner ratings were longitudinally and concurrently associated with the DP at 36 months of age. Family history of ASD was associated with higher dysregulation in the Anxious/Depressed dimension.

Conclusions

These findings support the relevance of examining the structure of psychopathology in preschoolers and suggest that examiner observations as early as 18 months of age, particularly of overactivity, may help identify risk for later DP-related concerns. Non-ASD preschoolers with family histories of ASD may be at risk for a phenotype characterized by elevated dysregulation particularly in the Anxious/Depressed dimension by age 3.

Objective

This study had 3 goals, which were to examine the following: the frequency of atypical development, consistent with the broader autism phenotype, in high-risk infant siblings of children with autism spectrum disorder (ASD); the age at which atypical development is first evident; and which developmental domains are affected.

Method

A prospective longitudinal design was used to compare 294 high-risk infants and 116 low-risk infants. Participants were tested at 6, 12, 18, 24, and 36 months of age. At the final visit, outcome was classified as ASD, Typical Development (TD), or Non-TD (defined as elevated Autism Diagnostic Observation Schedule [ADOS] score, low Mullen Scale scores, or both).

Results

Of the high-risk group, 28% were classified as Non-TD at 36 months of age. Growth curve models demonstrated that the Non-TD group could not be distinguished from the other groups at 6 months of age, but differed significantly from the Low-Risk TD group by 12 months on multiple measures. The Non-TD group demonstrated atypical development in cognitive, motor, language, and social domains, with differences particularly prominent in the social-communication domain.

Conclusions

These results demonstrate that features of atypical development, consistent with the broader autism phenotype, are detectable by the first birthday and affect development in multiple domains. This highlights the necessity for close developmental surveillance of infant siblings of children with ASD, along with implementation of appropriate interventions as needed.

While previous studies suggested that regressive forms of onset were not common in autism spectrum disorder (ASD), more recent investigations suggest that the rates are quite high and may be under-reported using certain methods. The current study undertook a systematic investigation of how rates of regression differed by measurement method. Infants with (n = 147) and without a family history of ASD (n = 83) were seen prospectively for up to 7 visits in the first three years of life. Reports of symptom onset were collected using four measures that systematically varied the informant (examiner vs. parent), the decision type (categorical [regression absent or present] vs. dimensional [frequency of social behaviors]), and the timing of the assessment (retrospective vs. prospective). Latent class growth models were used to classify individual trajectories to see whether regressive onset patterns were infrequent or widespread within the ASD group. A majority of the sample was classified as having a regressive onset using either examiner (88%) or parent (69%) prospective dimensional ratings. Rates of regression were much lower using retrospective or categorical measures (from 29 to 47%). Agreement among different measurement methods was low. Declining trajectories of development, consistent with a regressive onset pattern, are common in children with ASD and may be more the rule than the exception. The accuracy of widely used methods of measuring onset is questionable and the present findings argue against their widespread use. Autism Res 2018, 11: 788-797. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.

Lay summary

This study examines different ways of measuring the onset of symptoms in autism spectrum disorder (ASD). The present findings suggest that declining developmental skills, consistent with a regressive onset pattern, are common in children with ASD and may be more the rule than the exception. The results question the accuracy of widely used methods of measuring symptom onset and argue against their widespread use.