Daniel S. Messinger

Recurrence risk for autism spectrum disorders: A baby siblings research consortium study

OBJECTIVE: The recurrence risk of autism spectrum disorders (ASD) is estimated to be between 3% and 10%, but previous research was limited by small sample sizes and biases related to ascertainment, reporting, and stoppage factors. This study used prospective methods to obtain an updated estimate of sibling recurrence risk for ASD. METHODS: A prospective longitudinal study of infants at risk for ASD was conducted by a multisite international network, the Baby Siblings Research Consortium. Infants (n = 664) with an older biological sibling with ASD were followed from early in life to 36 months, when they were classified as having or not having ASD. An ASD classification required surpassing the cutoff of the Autism Diagnostic Observation Schedule and receiving a clinical diagnosis from an expert clinician. RESULTS: A total of 18.7% of the infants developed ASD. Infant gender and the presence of >1 older affected sibling were significant predictors of ASD outcome, and there was an almost threefold increase in risk for male subjects and an additional twofold increase in risk if there was >1 older affected sibling. The age of the infant at study enrollment, the gender and functioning level of the infants older sibling, and other demographic factors did not predict ASD outcome. CONCLUSIONS: The sibling recurrence rate of ASD is higher than suggested by previous estimates. The size of the current sample and prospective nature of data collection minimized many limitations of previous studies of sibling recurrence. Clinical implications, including genetic counseling, are discussed.

Maternal Depression and the Quality of Early Attachment: An Examination of Infants, Preschoolers, and Their Mothers.

Relations between maternal depression and attachment security among 50 infant-mother and 54 preschool child-mother dyads were examined using the classification system of M. D. S. Ainsworth, M. C. Blehar, E. Waters, and S. Wall (1978) and M. Main and J. Solomon (1990) for infants and the Preschool Assessment of Attachment (P. M. Crittenden, 1992b) for preschoolers. Attachment insecurity was significantly associated with maternal depression among infants and preschoolers. Furthermore, children without unitary, coherent attachment strategies tended to have more chronically impaired mothers than did children with coherent, organized attachment strategies. Results stress the importance of severity-chronicity of parental illness in the study of depression and early attachment relations, and that differences between children with and without coherent, organized attachment strategies are as clinically informative as are differences between secure and insecure children.

Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants

With increased public awareness of the early signs and recent American Academy of Pediatrics recommendations that all 18- and 24-month-olds be screened for autism spectrum disorders, there is an increasing need for diagnostic assessment of very young children. However, unique challenges exist in applying current diagnostic guidelines for autism spectrum disorders to children under the age of 2 years. In this article, we address challenges related to early detection, diagnosis, and treatment of autism spectrum disorders in this age group. We provide a comprehensive review of findings from recent studies on the early development of children with autism spectrum disorders, summarizing current knowledge on early signs of autism spectrum disorders, the screening properties of early detection tools, and current best practice for diagnostic assessment of autism spectrum disorders before 2 years of age. We also outline principles of effective intervention for children under the age of 2 with suspected/confirmed autism spectrum disorders. It is hoped that ongoing studies will provide an even stronger foundation for evidence-based diagnostic and intervention approaches for this critically important age group.

Responding to Joint Attention Across the 6- Through 24-Month Age Period and Early Language Acquisition

Abstract This study examined individual differences in the development of the capacity of infants to respond to the joint attention bids of others (e.g., gaze shift, pointing, and vocalizing) across the first and second year. The primary aim of the study was to determine if responding to joint attention (RJA) in the first and second year was related to subsequent vocabulary acquisition and whether a specific period of development during the first 2 years was optimal for the assessment of individual differences in this skill. The study was also designed to determine if RJA provided unique predictive information about language development over and above that provided by parent reports of early vocabulary acquisition. Findings indicated that RJA at 6, 8, 10, 12, and 18 months was positively related to individual differences in vocabulary development. Furthermore, both a 6- to 18-month aggregate measure of RJA and a parent report measure of language development made unique contributions to the predictions of vocabulary acquisition. Finally, individual differences in RJA measured at 21 and 24 months were not related to language development.

Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority

One of the most consistent findings in autism spectrum disorder (ASD) research is a higher rate of ASD diagnosis in males than females. Despite this, remarkably little research has focused on the reasons for this disparity. Better understanding of this sex difference could lead to major advancements in the prevention or treatment of ASD in both males and females. In October of 2014, Autism Speaks and the Autism Science Foundation co-organized a meeting that brought together almost 60 clinicians, researchers, parents, and self-identified autistic individuals. Discussion at the meeting is summarized here with recommendations on directions of future research endeavors.

What's in a smile?

In positive social contexts, both adults and older infants show more Duchenne smiling (which involves high cheek raising) than non-Duchenne smiling (which does not). This study compared Duchenne and non-Duchenne smiles in early infancy for clues to their emotional significance. Infants (N = 13) from 1 to 6 months of age were videotaped weekly for 5 min in 208 face-to-face interactions with their mothers. Levels of Duchenne and non-Duchenne smiling were correlated within interactive sessions, and the 2 smiles had similar developmental trajectories. Duchenne smiles were typically preceded by non-Duchenne smiles. The results suggest these frequently contrasted types of smiles occur in similar situations and are often different temporal phases of a continuous emotional process. In contrast to adults, infant Duchenne smiles had longer durations than non-Duchenne smiles, suggesting infant smiling does not fit adult models of emotional functioning.

Diagnostic stability in young children at risk for autism spectrum disorder: a baby siblings research consortium study.

BACKGROUND The 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. METHODS Data 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. RESULTS The 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%). CONCLUSIONS The 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.

A framework for automated measurement of the intensity of non-posed Facial Action Units

This paper presents a framework to automatically measure the intensity of naturally occurring facial actions. Naturalistic expressions are non-posed spontaneous actions. The facial action coding system (FACS) is the gold standard technique for describing facial expressions, which are parsed as comprehensive, nonoverlapping action units (Aus). AUs have intensities ranging from absent to maximal on a six-point metric (i.e., 0 to 5). Despite the efforts in recognizing the presence of non-posed action units, measuring their intensity has not been studied comprehensively. In this paper, we develop a framework to measure the intensity of AU12 (lip corner puller) and AU6 (cheek raising) in videos captured from infant-mother live face-to-face communications. The AU12 and AU6 are the most challenging case of infants expressions (e.g., low facial texture in infants face). One of the problems in facial image analysis is the large dimensionality of the visual data. Our approach for solving this problem is to utilize the spectral regression technique to project high dimensionality facial images into a low dimensionality space. Represented facial images in the low dimensional space are utilized to train support vector machine classifiers to predict the intensity of action units. Analysis of 18 minutes of captured video of non-posed facial expressions of several infants and mothers shows significant agreement between a human FACS coder and our approach, which makes it an efficient approach for automated measurement of the intensity of non-posed facial action units.

Positive and Negative: Infant Facial Expressions and Emotions

One path to understanding emotional processes and their development is the investigation of early facial expressions. Converging evidence suggests that although all infant smiles index positive emotion, some smiles are more positive than others. The evidence stems both from the situations in which infants produce different facial expressions and from naive observers’ ratings of the emotional intensity of the expressions. The observers’ ratings also suggest that similar facial actions—such as cheek raising—lead smiles to be perceived as more positive and lead negative expressions (cry-faces) to be perceived as more negative. One explanation for this parsimony is that certain facial actions are associated with the intensification of both positive and negative emotions.

Automated Measurement of Facial Expression in Infant-Mother Interaction: A Pilot Study.

Automated facial measurement using computer vision has the potential to objectively document continuous changes in behavior. To examine emotional expression and communication, we used automated measurements to quantify smile strength, eye constriction, and mouth opening in two six-month-old/mother dyads who each engaged in a face-to-face interaction. Automated measurements showed high associations with anatomically based manual coding (concurrent validity); measurements of smiling showed high associations with mean ratings of positive emotion made by naive observers (construct validity). For both infants and mothers, smile strength and eye constriction (the Duchenne marker) were correlated over time, creating a continuous index of smile intensity. Infant and mother smile activity exhibited changing (nonstationary) local patterns of association, suggesting the dyadic repair and dissolution of states of affective synchrony. The study provides insights into the potential and limitations of automated measurement of facial action.