Dataset Information

Developmental Trajectories of Infants With Multiplex Family Risk for Autism: A Baby Siblings Research Consortium Study.

ABSTRACT:

Importance

Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with different genetic etiologies. Prospective examination of familial-risk infants informs understanding of developmental trajectories preceding ASD diagnosis, potentially improving early detection.

Objective

To compare outcomes and trajectories associated with varying familial risk for ASD across the first 3 years of life.

Design, setting, and participants

This longitudinal, prospective cohort study used data from 11 sites in the Baby Siblings Research Consortium database. Data were collected between 2003 and 2015. Infants who were younger siblings of children with ASD were followed up for 3 years. Analyses were conducted in April 2018. Of the initial 1008 infants from the database, 573 were removed owing to missing necessary data, diagnostic discrepancies, or only having 1 older sibling.

Exposures

Number of siblings with ASD.

Main outcomes and measures

Outcomes included ASD symptoms, cognitive abilities, and adaptive skills. Diagnosis (ASD or no ASD) was given at 36-month outcome. The no-ASD group was classified as atypical (developmental delays and/or social-communication concerns) or typical for some analyses. Generalized linear mixed models examined developmental trajectories by ASD outcome and familial-risk group.

Results

In the 435 analyzed participants (age range at outcome, 32-43 months; 246 male [57%]), 355 (82%) were from single-incidence families (1 sibling with ASD and ≥1 sibling without ASD) and 80 (18%) were from multiplex families (≥2 siblings with ASD). There were no significant group differences in major demographics. Children from multiplex families were more likely than those from single-incidence families to be classified as having ASD (29 of 80 [36%] vs 57 of 355 [16%]; 95% CI, 9%-31%; P < .001) and less likely as typical (26 of 80 [33%] vs 201 of 355 [57%]; 95% CI, -36% to -13%; P < .001), with similar rates of atypical classifications (25 of 80 [31%] vs 97 of 355 [27%]; 95% CI, -7% to 15%; P = .49). There were no differences in ASD symptoms between multiplex and single-incidence groups after controlling for ASD outcome (95% CI, -0.02 to 0.20; P = .18). During infancy, differences in cognitive and adaptive abilities were observed based on ASD outcome in the single-incidence group only. At 36 months, the multiplex/no-ASD group had lower cognitive abilities than the single-incidence/no-ASD group (95% CI, -11.89 to -2.20; P = .02), and the multiplex group had lower adaptive abilities than individuals in the single-incidence group after controlling for ASD outcome (95% CI, -9.01 to -1.48; P = .02).

Conclusions and relevance

Infants with a multiplex family history of ASD should be monitored early and often and referred for early intervention at the first sign of concern. Direct examination of genetic contributions to neurodevelopmental phenotypes in infants with familial risk for ASD is needed.

SUBMITTER: McDonald NM

PROVIDER: S-EPMC6784852 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundThe diagnosis of autism spectrum disorder (ASD) made before age 3 has been found to be remarkably stable in clinic- and community-ascertained samples. The stability of an ASD diagnosis in prospectively ascertained samples of infants at risk for ASD due to familial factors has not yet been studied, however. The American Academy of Pediatrics recommends intensive surveillance and screening for this high-risk group, which may afford earlier identification. Therefore, it is critical to understand the stability of an ASD diagnosis made before age 3 in young children at familial risk.MethodsData were pooled across seven sites of the Baby Siblings Research Consortium. Evaluations of 418 later-born siblings of children with ASD were conducted at 18, 24, and 36 months of age and a clinical diagnosis of ASD or Not ASD was made at each age.ResultsThe stability of an ASD diagnosis at 18 months was 93% and at 24 months was 82%. There were relatively few children diagnosed with ASD at 18 or 24 months whose diagnosis was not confirmed at 36 months. There were, however, many children with ASD outcomes at 36 months who had not yet been diagnosed at 18 months (63%) or 24 months (41%).ConclusionsThe stability of an ASD diagnosis in this familial-risk sample was high at both 18 and 24 months of age and comparable with previous data from clinic- and community-ascertained samples. However, almost half of the children with ASD outcomes were not identified as being on the spectrum at 24 months and did not receive an ASD diagnosis until 36 months. Thus, longitudinal follow-up is critical for children with early signs of social-communication difficulties, even if they do not meet diagnostic criteria at initial assessment. A public health implication of these data is that screening for ASD may need to be repeated multiple times in the first years of life. These data also suggest that there is a period of early development in which ASD features unfold and emerge but have not yet reached levels supportive of a diagnosis.

Project description:Purpose:The need for community-viable, evidence-based intervention strategies for toddlers with autism spectrum disorder (ASD) is a national priority. The purpose of this research forum article is to identify gaps in intervention research and needs in community practice for toddlers with ASD, incorporate published findings from a randomized controlled trial (RCT) of the Early Social Interaction (ESI) model (Wetherby et al., 2014) to illustrate community-based intervention, report new findings on child active engagement from the ESI RCT, and offer solutions to bridge the research-to-community practice gap. Method:Research findings were reviewed to identify gaps in the evidence base for toddlers with ASD. Published and new findings from the multisite ESI RCT compared the effects of two different ESI conditions for 82 toddlers with ASD to teach parents how to support active engagement in natural environments. Results:The RCT of the ESI model was the only parent-implemented intervention that reported differential treatment effects on standardized measures of child outcomes, including social communication, developmental level, and adaptive behavior. A new measure of active engagement in the natural environment was found to be sensitive to change in 3 months for young toddlers with ASD and to predict outcomes on the standardized measures of child outcomes. Strategies for utilizing the Autism Navigator collection of web-based courses and tools using extensive video footage for families and professional development are offered for scaling up in community settings to change developmental trajectories of toddlers with ASD. Conclusions:Current health care and education systems are challenged to provide intervention of adequate intensity for toddlers with ASD. The use of innovative technology can increase acceleration of access to evidence-based early intervention for toddlers with ASD that addresses health disparities, enables immediate response as soon as ASD is suspected, and rapidly bridges the research-to-practice gap.