Translating Between Research and Practice in Serving Infants at Risk for ASD In research studies, we are now able to identify many infants who are at risk for later diagnoses of autism spectrum disorders (ASD) as early as 12 months of age. The authors are part of a research team developing and testing a tool for early identification and also testing the ... Article
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Article  |   February 01, 2013
Translating Between Research and Practice in Serving Infants at Risk for ASD
Author Affiliations & Notes
  • Linda R. Watson
    The University of North Carolina at Chapel Hill, Chapel Hill, NC
  • Elizabeth R. Crais
    The University of North Carolina at Chapel Hill, Chapel Hill, NC
  • Disclosure: Linda R. Watson is Principal Investigator and Elizabeth R. Crais is Co-Principal Investigator on a study of parent-mediated early intervention for infants at risk for ASD (2010–current). Watson and Crais are also named investigators on a grant from Autism Speaks to University of North Carolina–Chapel Hill; they receive no salary support from this grant.
    Disclosure: Linda R. Watson is Principal Investigator and Elizabeth R. Crais is Co-Principal Investigator on a study of parent-mediated early intervention for infants at risk for ASD (2010–current). Watson and Crais are also named investigators on a grant from Autism Speaks to University of North Carolina–Chapel Hill; they receive no salary support from this grant.×
Article Information
Special Populations / Autism Spectrum / Early Identification & Intervention / Articles
Article   |   February 01, 2013
Translating Between Research and Practice in Serving Infants at Risk for ASD
SIG 1 Perspectives on Language Learning and Education, February 2013, Vol. 20, 4-13. doi:10.1044/lle20.1.4
SIG 1 Perspectives on Language Learning and Education, February 2013, Vol. 20, 4-13. doi:10.1044/lle20.1.4

In research studies, we are now able to identify many infants who are at risk for later diagnoses of autism spectrum disorders (ASD) as early as 12 months of age. The authors are part of a research team developing and testing a tool for early identification and also testing the efficacy of an early intervention for infants at risk for ASD. Challenges encountered in this research highlight some of the issues that speech-language pathologists and other professionals serving the infant/toddler population may face. This article uses our research team’s experiences to raise some of the ethical and practical concerns regarding translating from research to practice in early identification for this population, and the potential implications for early intervention policies and services.

In the context of growing research on the early development of infants later diagnosed with autism spectrum disorders (ASD) and public health concerns about the increasing prevalence of ASD, early identification of these children is a high priority within translational research. At its best, translational research involves community stakeholders and researchers across disciplines working in a bidirectional way to influence the decisions made about research and practice that advance the wellbeing of the community (Kon, 2008). With a higher prevalence of ASD than once suspected—1 in 88 (Centers for Disease Control and Prevention [CDC], 2012)—and autism awareness campaigns at national and global levels (e.g., Learn the Signs, Act Early, www.cdc.gov/ncbddd/actearly/index.html; World Autism Awareness Day, www.autismspeaks.org/what-autism/waad), parents and clinicians alike are concerned with effective strategies for identifying children at risk as early as possible and promoting better outcomes.
In response to the needs, the Program for Early Autism Research, Leadership, and Service (PEARLS; www.med.unc.edu/ahs/pearls) team at the University of North Carolina at Chapel Hill is engaged in a program of translational research aimed at early identification (prior to 18 months of age) and intervention for infants at risk for ASD. We draw on our team’s experiences and the current research literature to examine some of the challenges—first in translating “from research to practice,” then later in translating “bidirectionally” between researchers and community stakeholders—for the wellbeing of this young age group.
Conceptual Basis for Intervention With Infants at Risk for ASD
In practice, the primary aim of earlier identification of ASD risk is to provide access to intervention services at an earlier age. No studies have tested the impact of beginning intervention between 12–18 months of age, before the symptoms of ASD are fully apparent in most children, compared to beginning intervention at a later age when diagnostic criteria can be more confidently applied. But, beginning intervention in infancy in this population is conceptually of interest in part due to recent neurodevelopmental research. More sophisticated conceptualizations of age-old nature-versus-nurture debates currently recognize the importance of transactional effects between genetic/neural mechanisms and environmental factors (Beauchaine, Neuhaus, Brenner, & Gatze-Kopp, 2008). This transactional model is directly applicable to the hypothesis that behavioral interventions beginning as soon as risk for ASD can be detected will be efficacious. Genetic factors are now viewed as establishing susceptibility to ASD rather than being deterministic. A number of candidate susceptibility genes for ASD are related to synaptic functions (Geschwind, 2009). Typical brain development during the first year of life is characterized by rapid proliferation of neurons and neural connections, with a relative lack of efficiency in functioning (Webb, Monk, & Nelson, 2001). Neural connections are shaped by experience, some strengthened and elaborated and others weakened or eliminated, depending on differential stimulation (Bethea & Sikich, 2007). Some have proposed that ASD reflects a disruption in the shaping of neural connectivity (Courchesne & Pierce, 2005). Introducing behavioral interventions with 1-year-olds, when neural shaping processes first become prevalent, arguably could lead to more typical neural connectivity, in turn leading to more normal child–environment transactions.
Red Flags for ASD Around the First Birthday
Increased knowledge of group-level differences between infants later diagnosed with ASD and other infants has emerged from different research approaches, including retrospective parent reports; retrospective analyses of infant home videos of children later diagnosed with ASD, other developmental disabilities (DD), or typical development; prospective studies of infant siblings of children diagnosed with ASD; and prospective studies of population-based samples. Table 1 provides a summary of potential red flags at 9–12 months of age. Data across studies suggest that consistent ASD markers are elusive up through 6 months of age, but that toward the end of the first year, numerous group differences emerge, especially between infants who go on to be diagnosed with ASD compared to typically developing infants. Although group differences suggest the possibility of identifying at least some infants at risk for ASD by 12 months of age, the translation of these findings into effective early identification presents challenges.
Table 1: Potential Risk Markers for ASD in Infants 9–12 Months of Age
Potential Risk Markers for ASD in Infants 9–12 Months of Age×
Behavior Method & References
Sensory-Motor and Attention Features
- More seeking deep pressure
- More overly sensitive to touch
Retro video
Retro report
Baranek, 1999
Watson et al., 2007
- More likely to seem not to hear
- Less orienting to novel visual stimuli
Retro video
Retro report
Baranek, 1999
Watson et al., 2007
- More repetitive motor actions
- More repetitive activities with objects
- More repetitive body movements
Retro video
Retro report
Prosp sibs
Osterling, Dawson, & Munson, 2002
Watson et al., 2007
Ozonoff, Macari, et al., 2008
- More unusual posturing Retro video Baranek, 1999
- More visual fixations
- More unusual visual explorations of objects
- More difficulty with disengaging attention
Prosp sibs
Retro report
Retro video
Prosp sibs
Zwaigenbaum et al., 2005
Watson et al., 2007
Baranek, 1999
Ozonoff, Macari, et al., 2008
- Less likely to: reach into birthday cake; clap;
stack blocks; scribble; bang on high-chair tray
Retro report Gernsbacher, Sauer, Geye,
Schweigert, & Hill Goldsmith, 2008
Self-Regulation
- More self-regulatory difficulties
- Less regulated sleep patterns
- More difficult to calm when upset
- More frequent and intense distress reactions
Retro report
Retro report
Prosp sibs
Gomez & Baird, 2005
Watson et al., 2007
Zwaigenbaum et al., 2005
Expressive Language and Communication
- Lower expressive language standard scores Prosp sibs Zwaigenbaum et al., 2005
- Smaller consonant inventory
- Less babbled syllables with consonants
Prosp sibs
Prosp pop
Retro report
Paul, Fuerst, Ramsay,
Chawarska, & Klin, 2011
Veness et al., 2012
Watson et al., 2007
- Fewer vocalizations directed to others
- Less coordination of vocalizations and gaze
- Less initiation of communication
Prosp sibs
Prosp sibs
Prosp pop
Retro report
Zwaigenbaum et al., 2005
Ozonoff et al., 2010
Veness et al., 2012
Watson et al., 2007
- Smaller gesture inventory
- Fewer communicative gestures
- Fewer pointing and showing gestures
- Fewer pointing gestures to communicate
- Less likely to gesture for joint attention
Prosp sibs
Prosp pop
Retro report
Retro video
Retro video
Zwaigenbaum et al., 2005
Veness et al., 2012
Watson et al., 2007
Osterling et al., 2002
Watson, Crais, Baranek, Dykstra, & Wilson, in press
Receptive Language and Communication
- Lower standardized receptive language scores Prosp sibs
Prosp sibs
Zwaigenbaum et al., 2005
Ozonoff et al., 2010
- Less response to name
- Less response to joint attention
- Fewer phrases understood
- Less response to “Where’s [familiar person or object]?”
Prosp sibs
Retro video
Retro report
Zwaigenbaum et al., 2005
Osterling et al., 2002
Watson et al., 2007
Play
- More play with part of toy vs. whole toy
- More likely to play with only a few toys
Retro report Watson et al., 2007
Other Social Features
- Atypical eye contact
- More averting gaze from others’ eyes
- Less gaze to faces
- Less looking at others
Prosp sibs
Retro report
Prosp sibs
Retro video
Prosp pop
Zwaigenbaum et al., 2005
Watson et al., 2007
Ozonoff et al., 2010
Osterling et al., 2002
Veness et al. 2012
- More content to play alone
- Less interest in other babies
- Harder to get baby to play social games
- Harder to elicit social smile
- Less imitation of others’ behaviors
- Less looking at objects held by others
Retro report
Retro video
Watson et al., 2007
Osterling et al., 2002
- Harder to read baby’s facial expressions Retro report Watson et al., 2007
Key: Retro report = Retrospective parent reports on infant behavior; Retro video = Analyses of home videos of children during infancy; Prosp sibs = Prospective studies of infant siblings of children diagnosed with ASD; Prosp pop = Prospective population-based sample
Key: Retro report = Retrospective parent reports on infant behavior; Retro video = Analyses of home videos of children during infancy; Prosp sibs = Prospective studies of infant siblings of children diagnosed with ASD; Prosp pop = Prospective population-based sample×
Table 1: Potential Risk Markers for ASD in Infants 9–12 Months of Age
Potential Risk Markers for ASD in Infants 9–12 Months of Age×
Behavior Method & References
Sensory-Motor and Attention Features
- More seeking deep pressure
- More overly sensitive to touch
Retro video
Retro report
Baranek, 1999
Watson et al., 2007
- More likely to seem not to hear
- Less orienting to novel visual stimuli
Retro video
Retro report
Baranek, 1999
Watson et al., 2007
- More repetitive motor actions
- More repetitive activities with objects
- More repetitive body movements
Retro video
Retro report
Prosp sibs
Osterling, Dawson, & Munson, 2002
Watson et al., 2007
Ozonoff, Macari, et al., 2008
- More unusual posturing Retro video Baranek, 1999
- More visual fixations
- More unusual visual explorations of objects
- More difficulty with disengaging attention
Prosp sibs
Retro report
Retro video
Prosp sibs
Zwaigenbaum et al., 2005
Watson et al., 2007
Baranek, 1999
Ozonoff, Macari, et al., 2008
- Less likely to: reach into birthday cake; clap;
stack blocks; scribble; bang on high-chair tray
Retro report Gernsbacher, Sauer, Geye,
Schweigert, & Hill Goldsmith, 2008
Self-Regulation
- More self-regulatory difficulties
- Less regulated sleep patterns
- More difficult to calm when upset
- More frequent and intense distress reactions
Retro report
Retro report
Prosp sibs
Gomez & Baird, 2005
Watson et al., 2007
Zwaigenbaum et al., 2005
Expressive Language and Communication
- Lower expressive language standard scores Prosp sibs Zwaigenbaum et al., 2005
- Smaller consonant inventory
- Less babbled syllables with consonants
Prosp sibs
Prosp pop
Retro report
Paul, Fuerst, Ramsay,
Chawarska, & Klin, 2011
Veness et al., 2012
Watson et al., 2007
- Fewer vocalizations directed to others
- Less coordination of vocalizations and gaze
- Less initiation of communication
Prosp sibs
Prosp sibs
Prosp pop
Retro report
Zwaigenbaum et al., 2005
Ozonoff et al., 2010
Veness et al., 2012
Watson et al., 2007
- Smaller gesture inventory
- Fewer communicative gestures
- Fewer pointing and showing gestures
- Fewer pointing gestures to communicate
- Less likely to gesture for joint attention
Prosp sibs
Prosp pop
Retro report
Retro video
Retro video
Zwaigenbaum et al., 2005
Veness et al., 2012
Watson et al., 2007
Osterling et al., 2002
Watson, Crais, Baranek, Dykstra, & Wilson, in press
Receptive Language and Communication
- Lower standardized receptive language scores Prosp sibs
Prosp sibs
Zwaigenbaum et al., 2005
Ozonoff et al., 2010
- Less response to name
- Less response to joint attention
- Fewer phrases understood
- Less response to “Where’s [familiar person or object]?”
Prosp sibs
Retro video
Retro report
Zwaigenbaum et al., 2005
Osterling et al., 2002
Watson et al., 2007
Play
- More play with part of toy vs. whole toy
- More likely to play with only a few toys
Retro report Watson et al., 2007
Other Social Features
- Atypical eye contact
- More averting gaze from others’ eyes
- Less gaze to faces
- Less looking at others
Prosp sibs
Retro report
Prosp sibs
Retro video
Prosp pop
Zwaigenbaum et al., 2005
Watson et al., 2007
Ozonoff et al., 2010
Osterling et al., 2002
Veness et al. 2012
- More content to play alone
- Less interest in other babies
- Harder to get baby to play social games
- Harder to elicit social smile
- Less imitation of others’ behaviors
- Less looking at objects held by others
Retro report
Retro video
Watson et al., 2007
Osterling et al., 2002
- Harder to read baby’s facial expressions Retro report Watson et al., 2007
Key: Retro report = Retrospective parent reports on infant behavior; Retro video = Analyses of home videos of children during infancy; Prosp sibs = Prospective studies of infant siblings of children diagnosed with ASD; Prosp pop = Prospective population-based sample
Key: Retro report = Retrospective parent reports on infant behavior; Retro video = Analyses of home videos of children during infancy; Prosp sibs = Prospective studies of infant siblings of children diagnosed with ASD; Prosp pop = Prospective population-based sample×
×
American Academy of Pediatrics Practice Guidelines on ASD Screening
In the United States, the American Academy of Pediatrics led the way in pushing for population screening for ASD by issuing clinical guidelines (Johnson & Myers, 2007) calling for routine screening for ASD for all toddlers at 18 and 24 months of age. But for infants younger than 18 months, the American Academy of Pediatrics report recommends only general developmental screening and surveillance for risk markers for ASD. Without implying that the challenges related to research-to-practice translations in screening for ASD at 18 months of age and older have been resolved, this article aims to stimulate consideration of ethical, policy, and implementation issues associated with the potential for screening infants for risk of ASD at younger ages.
Research to Practice: Development of an Early Autism Screening Tool
Our team has developed a screening tool called the First Year Inventory (FYI; Baranek, Watson, Crais & Reznick, 2003). The FYI was an attempt to translate the cumulative body of research regarding the many group differences or “red flags” for ASD in infants into an effective early screener. The current version (FYI 2.0) is a 63-item parent questionnaire normed for 12-month-olds. The conceptual framework of the FYI groups ASD risk factors into two broad domains: social-communicative and sensory-regulatory behaviors.
In an early effort to validate the FYI 2.0, we recruited parents of preschoolers with ASD, other DD, and typical development to fill out a retrospective version of the FYI (FYI-R; Watson et al., 2007) based on their recall of their child’s behaviors at 12 months of age. Among the preschoolers with ASD, 35 of 38 scored above the 90th percentile on their total risk scores on the FYI-R, whereas none of the 40 children with typical development did so. The total risk scores of the children with other DD overlapped considerably as those of the children with ASD, suggesting the challenges in distinguishing these groups in infancy. At an individual item level, however, children with ASD had higher risk scores on the FYI-R than children with other DD, particularly on many items related to social orienting, receptive communication, and social-affective engagement, as well as a scattering of items related to imitation, expressive communication, sensory processing, reactivity, and repetitive behavior. These results were promising in suggesting that a set of key items might identify 12-month-olds who would go on to get a diagnosis of ASD.
Our later research, aimed at prospectively identifying 12-month-olds who would later be diagnosed with ASD, revealed differences between what parents recall retrospectively about their children’s behaviors at 12 months of age and what they report when the infants are actually that age. For example, in retrospect, many parents reported that their child with ASD seemed to have trouble hearing in infancy (Watson et al., 2007). In two prospective samples followed by our team, however, only 1 parent of 16 infants later diagnosed with ASD reported that the infant seemed to have difficulty hearing. There were similar discrepancies on other items reported retrospectively versus concurrently, such as the infant’s imitation of actions on objects or interest in other babies.
Another issue encountered in trying to translate research findings into an early ASD screening tool is that group differences from more comprehensive studies of a particular domain of behavior may not be easily captured when translated into concise questions on a parent questionnaire. For example, several studies have reported fewer communicative gestures among 12-month-olds later diagnosed with ASD compared to those with other DD or typical development (see Table 1). However, in our two prospective FYI samples, parents of only 2 of 16 infants later diagnosed with ASD indicated their child had limited gestures at 12 months of age.
An additional challenge in evaluating and refining the research-to-practice translation of a screening tool like the FYI is the need for data on later diagnostic outcomes. The PEARLS team followed up on our normative sample FYI 2.0 when the children were 3–4 years old (Turner-Brown, Baranek, Reznick, Watson, & Crais, in press). This study permitted us to revise our scoring algorithm and estimate the positive predictive value of the FYI 2.0. The scoring algorithm that best balanced between sensitivity (identifying as many infants later diagnosed with ASD as possible) and positive predictive value (minimizing false positives) was one that set dual cut-off risk scores in the FYI domains of social-communication and sensory-regulation. With this algorithm, we identified 4 of 9 infants who were diagnosed with ASD by the time of follow-up, for an estimated sensitivity of 44%; the other 5 children diagnosed with ASD by age 3–4 years did not meet risk criteria on the FYI at 12 months of age, and thus were “false negatives.” This result was not especially surprising in light of other research regarding variable patterns of emergence of ASD symptoms, suggesting only about half of children with ASD are manifesting symptoms by the age of 12 months (Ozonoff, Heung, Byrd, Hansen, & Hertz-Picciotto, 2008). The positive predictive value for this sample was 31% for ASD—that is, 4 of 13 infants who scored at risk on the FYI were diagnosed with ASD by follow-up. The other 9 infants identified by the FYI were “false positives” for ASD. However, an additional 7 of these 9 infants who scored at risk had diagnoses of other DDs or parent-identified concerns about development at age 3–4 years, meaning that 85% of infants identified by the FYI went on to have either ASD or other developmental concerns. This follow-up study was invaluable in contributing to the ongoing development of the FYI, but highlighted several challenges:
  • we had to wait 2–3 years after the initial screening with the FYI for the children to reach an age where we could expect most children with ASD to be reliably identified;

  • the symptoms of infants later diagnosed with ASD overlap considerably with symptoms of infants with other developmental concerns;

  • our follow-up on an original sample of about 1,000 infants yielded only 9 children with ASD diagnoses, giving us very limited statistical power for analyses comparing this subgroup to other subgroups, such as children with other DD, to determine which FYI items might be more sensitive to ASD; and

  • a large follow-up study yielding more optimal statistical power would require a commensurately large amount of funding, which would rest on this type of research being considered a high priority by funding agencies in the context of many competing ASD research priorities.

Bidirectional Research and Practice Challenges
In an effort to gain stakeholder input on early screening for ASD, the PEARLs team conducted a series of focus groups with primary care providers and gained further insight into potential translational challenges (Crais et al., 2012). From an implementation perspective, primary care providers were concerned with issues such as the time required for ASD screening (i.e., they wanted a short screening tool), following up on positive screening results, and reimbursement. For financial reasons, they wanted a free or inexpensive tool. From an ethical perspective, they did not want to cause parents needless distress related to false positive identification, nor did they want to refer parents without assurance that adequate community services would be available. Many primary care providers felt inadequately prepared to address questions related to ASD in their practice.
Comparing the primary care providers’ concerns expressed during our focus groups to the current research on early ASD screening reveals significant research-to-practice gaps. In our own research program, for example, we have not yet found a small set of items to reliably identify 12-month-olds at risk for ASD, and sensitivity and positive predictive value of the current FYI would likely not meet the expectations of these primary care providers. Research-to-practice gaps can be illustrated with other ASD screening tools as well. The most widely researched early ASD screener is the Modified Checklist for Autism in Toddlers (M-CHAT; Robins, Fein, & Barton, 1999a), a 23-item parent questionnaire designed to screen toddlers, 16–30 months old. For failed M-CHAT screenings, a follow-up parent interview is used to reduce the number of false positives (Robins, Fein, & Barton, 1999b). Comparing the performance of the M-CHAT by age groups, Pandey et al. (2008) found a positive predictive value of .61 when using the M-CHAT for community screenings of older toddlers (24–30 months), but a value of only .28 for younger toddlers (16–23 months). Based on the comments in our focus groups (Crais et al., 2012), primary care providers likely would be concerned with the number of false positives reflected by those positive predictive values, especially for younger toddlers. Further, some of our focus group participants were using the M-CHAT but unaware of the availability of follow-up questions.
Perhaps a more extended conversation of the goals of early ASD screening and the current research evidence would bring researchers and community practitioners to a more optimistic perspective on the potential benefits of ASD screening in infancy. Similar to our findings with the FYI, other ASD screening research has demonstrated that the majority of infants and toddlers identified but not subsequently diagnosed with ASD (i.e., the false positives) have other developmental problems, or exhibit concerning behaviors that warrant monitoring (Miller et al., 2011; Pandey et al., 2008; Pierce et al., 2011; Robins, 2008). Referrals for developmental assessments (including in-depth assessment of ASD symptoms), therefore, are highly appropriate for infants and toddlers flagged in ASD screenings.
Another screening challenge is that definitive data on the sensitivity of early ASD screening tools are scant, because determining sensitivity depends on follow-up data on children who screen negative. Children with ASD who are higher functioning and have milder symptoms are often not diagnosed until school-age (CDC, 2012), suggesting that follow-up studies need to be completed years after the original screenings to get an accurate estimate of missed cases. Due to the heterogeneity in the emergence of ASD symptoms across the first few years (Ozonoff, Heung, et al., 2008) and documented patterns of regression at mean ages slightly older than 2 years (Wiggins, Rice, & Baio, 2009), screening in the early part of the second year likely will miss many cases. Thus, practitioners might be reluctant to screen infants younger than 18 months due to low sensitivity. If, however, screenings are repeated and surveillance is ongoing, as recommended by the American Academy of Pediatrics (Johnson & Myers, 2007), what level of sensitivity is required to make a first-time screening around 12 months worthwhile? For example, if we could identify at 12 months one-third to one-half of the children who will eventually get an ASD diagnosis, would this warrant an earlier routine ASD screening than currently recommended?
Beyond the issue of sensitivity of ASD screening tools at different ages, other questions need addressing. In particular, what is the efficacy of interventions with infants at risk for ASD? Although comparisons of child outcomes for interventions initiated before versus after 18 months would be empirically informative, researchers proposing such studies would need to demonstrate that their study design addressed potential ethical concerns related to delaying intervention for some at-risk infants or toddlers. Also, even if research supports the efficacy of early interventions for infants at risk for ASD, the value at a societal level would only accrue if effective interventions could be delivered in community settings at a cost offset by the eventual benefits. Policy-makers and practitioners are faced with a dilemma not uncommon in efforts to use evidence-based practices: the available empirical data rarely offer indisputable guidance for decision-making. The development of clinical practice guidelines (e.g., Johnson & Myers, 2007) in the absence of definitive evidence can be beneficial, however, in clarifying what research questions need addressing in order to improve practices at the community level.
Studies of community implementation highlight additional unresolved ASD screening challenges. Even though ASD-specific screening of toddlers is recommended by the American Academy of Pediatrics, primary care providers do not always follow these guidelines. For example, recent studies have reported rates of routine screening for ASD among pediatricians and family practice physicians range from 22% (Pierce et al., 2011) to 28% (Gillis, 2009). Identifying and addressing barriers to full implementation of ASD screenings by primary care providers is an important goal for translational research.
Further issues in ASD screenings in community practice include difficulties following up with parents either due to parents not responding or declining follow-up. For example, Dietz, Swinkels, van Daalen, van Engeland, and Buitelaar (2007) found that 31% of parents of children who failed an ASD screening at 14–15 months of age did not follow through on recommendations for a second screening. Understanding parents’ reasons for not following up, and the extent to which their decisions result in missed early diagnoses, could inform implementation decisions. For example, parents may not follow through because they are not concerned about their child’s development at young ages, when the risk markers for ASD are less salient to them. Indeed, Wetherby, Brosnan-Maddox, Peace, and Newton (2008) found that only half of the parents of infants under the age of 15 months who were later diagnosed with ASD expressed concerns. Therefore, future translational research could focus on strategies for communicating effectively with families about ASD screening results.
Another issue in the translation of research to practice is that primary care providers who do screen do not always refer children based on the results. In one study (Pierce et al., 2011), pediatricians screened more than 10,000 1-year-olds using the Infant-Toddler Checklist (ITC; Wetherby & Prizant, 2002). Although it is a broad screener and not ASD-specific, the ITC appears to be quite sensitive to ASD (Wetherby et al., 2008). Of 1,318 infants who failed the screening, only 346 were referred to the researchers who followed up on the failed cases. In these situations, the primary care providers may have overruled the results based on their clinical judgment that the infant was not at risk for developmental problems. Thus, more research on the decision-making process used by primary care providers regarding referrals would be useful in planning for broad-based ASD community screening.
Finally, programs for broad-based community ASD screening of young children outside of their medical homes (e.g., through childcare programs) have not been widely described or studied, and warrant attention in translational research to address the public health priority of early ASD screening. Speech-language pathologists who work with infants and toddlers are also in an ideal position to screen for early ASD symptoms. With existing practices, disparities in age of diagnosis of ASD continue to exist based on factors such as socioeconomic status, race, and ethnicity (CDC, 2012; Fountain, King, & Bearman, 2011), highlighting the need to examine alternative screening strategies that would close these gaps.
Implications for Early Intervention for Infants at Risk for ASD
Unique issues arise when comparing early intervention decisions for infants at risk for ASD with those for children already diagnosed. Most states require substantial delays or a diagnosed condition associated with a high likelihood of DD for toddlers to be eligible for Part C services. In an ongoing intervention study by our team, developmental assessments were completed on 49 infants (13–15 months of age) who scored at risk for ASD on the FYI 2.0. Using North Carolina Part C eligibility criteria, 26 of these infants would be eligible based on the extent of their developmental delays; however, 23 would not. Among the ineligible infants, 18 had one or more developmental subtest scores greater than one standard deviation below the mean. In following up thus far on 17 of these ineligible children 20–23 months of age, 5 exhibited symptoms consistent with an ASD diagnosis, and an additional 3 showed enough symptoms to warrant ongoing monitoring.
Our experiences in this study point to another major challenge ensuing from screening infants for risk of ASD: some infants show red flags for ASD and indeed are later diagnosed with ASD, but do not have dramatic developmental delays at 12–15 months. The parents of these infants may feel ambivalent about whether they should be concerned or not, and about whether to seek services or “wait and see.” If they do seek services, they likely will find that Part C services are not available and that insurance coverage for services may be difficult to obtain in the absence of a diagnosis. Further, those families who can afford to pay for services may have difficulty locating community providers with expertise with this population.
Conclusions
We have the capability of identifying infants at risk for ASD through parent-report screening tools, and implementing interventions with these infants has conceptual support from neurobiological research. A sizeable proportion of these infants at risk will later be diagnosed with ASD; many will not have ASD, but will be later identified with other developmental problems; and a few of them will have no later developmental concerns. Currently, we cannot reliably diagnose ASD in most toddlers until 18–24 months of age or later, leading to a time gap between the age at which we can identify risk signs of ASD and the age at which we can provide definitive differential diagnoses. Translational research related to screening and serving infants at risk for ASD is ongoing, but currently is insufficient to provide solid empirical foundations for policy development and practice decisions related to serving infants who show risk for ASD but are not yet old enough to be reliably diagnosed. Yet, the increasing prevalence and increasing autism awareness have engendered a sense of urgency to identify children with ASD and implement interventions as early as possible. Stronger alliances between community stakeholders and researchers could address this public health need by fostering more efficient and effective translations between research and practice in serving infants at risk for ASD.
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Table 1: Potential Risk Markers for ASD in Infants 9–12 Months of Age
Potential Risk Markers for ASD in Infants 9–12 Months of Age×
Behavior Method & References
Sensory-Motor and Attention Features
- More seeking deep pressure
- More overly sensitive to touch
Retro video
Retro report
Baranek, 1999
Watson et al., 2007
- More likely to seem not to hear
- Less orienting to novel visual stimuli
Retro video
Retro report
Baranek, 1999
Watson et al., 2007
- More repetitive motor actions
- More repetitive activities with objects
- More repetitive body movements
Retro video
Retro report
Prosp sibs
Osterling, Dawson, & Munson, 2002
Watson et al., 2007
Ozonoff, Macari, et al., 2008
- More unusual posturing Retro video Baranek, 1999
- More visual fixations
- More unusual visual explorations of objects
- More difficulty with disengaging attention
Prosp sibs
Retro report
Retro video
Prosp sibs
Zwaigenbaum et al., 2005
Watson et al., 2007
Baranek, 1999
Ozonoff, Macari, et al., 2008
- Less likely to: reach into birthday cake; clap;
stack blocks; scribble; bang on high-chair tray
Retro report Gernsbacher, Sauer, Geye,
Schweigert, & Hill Goldsmith, 2008
Self-Regulation
- More self-regulatory difficulties
- Less regulated sleep patterns
- More difficult to calm when upset
- More frequent and intense distress reactions
Retro report
Retro report
Prosp sibs
Gomez & Baird, 2005
Watson et al., 2007
Zwaigenbaum et al., 2005
Expressive Language and Communication
- Lower expressive language standard scores Prosp sibs Zwaigenbaum et al., 2005
- Smaller consonant inventory
- Less babbled syllables with consonants
Prosp sibs
Prosp pop
Retro report
Paul, Fuerst, Ramsay,
Chawarska, & Klin, 2011
Veness et al., 2012
Watson et al., 2007
- Fewer vocalizations directed to others
- Less coordination of vocalizations and gaze
- Less initiation of communication
Prosp sibs
Prosp sibs
Prosp pop
Retro report
Zwaigenbaum et al., 2005
Ozonoff et al., 2010
Veness et al., 2012
Watson et al., 2007
- Smaller gesture inventory
- Fewer communicative gestures
- Fewer pointing and showing gestures
- Fewer pointing gestures to communicate
- Less likely to gesture for joint attention
Prosp sibs
Prosp pop
Retro report
Retro video
Retro video
Zwaigenbaum et al., 2005
Veness et al., 2012
Watson et al., 2007
Osterling et al., 2002
Watson, Crais, Baranek, Dykstra, & Wilson, in press
Receptive Language and Communication
- Lower standardized receptive language scores Prosp sibs
Prosp sibs
Zwaigenbaum et al., 2005
Ozonoff et al., 2010
- Less response to name
- Less response to joint attention
- Fewer phrases understood
- Less response to “Where’s [familiar person or object]?”
Prosp sibs
Retro video
Retro report
Zwaigenbaum et al., 2005
Osterling et al., 2002
Watson et al., 2007
Play
- More play with part of toy vs. whole toy
- More likely to play with only a few toys
Retro report Watson et al., 2007
Other Social Features
- Atypical eye contact
- More averting gaze from others’ eyes
- Less gaze to faces
- Less looking at others
Prosp sibs
Retro report
Prosp sibs
Retro video
Prosp pop
Zwaigenbaum et al., 2005
Watson et al., 2007
Ozonoff et al., 2010
Osterling et al., 2002
Veness et al. 2012
- More content to play alone
- Less interest in other babies
- Harder to get baby to play social games
- Harder to elicit social smile
- Less imitation of others’ behaviors
- Less looking at objects held by others
Retro report
Retro video
Watson et al., 2007
Osterling et al., 2002
- Harder to read baby’s facial expressions Retro report Watson et al., 2007
Key: Retro report = Retrospective parent reports on infant behavior; Retro video = Analyses of home videos of children during infancy; Prosp sibs = Prospective studies of infant siblings of children diagnosed with ASD; Prosp pop = Prospective population-based sample
Key: Retro report = Retrospective parent reports on infant behavior; Retro video = Analyses of home videos of children during infancy; Prosp sibs = Prospective studies of infant siblings of children diagnosed with ASD; Prosp pop = Prospective population-based sample×
Table 1: Potential Risk Markers for ASD in Infants 9–12 Months of Age
Potential Risk Markers for ASD in Infants 9–12 Months of Age×
Behavior Method & References
Sensory-Motor and Attention Features
- More seeking deep pressure
- More overly sensitive to touch
Retro video
Retro report
Baranek, 1999
Watson et al., 2007
- More likely to seem not to hear
- Less orienting to novel visual stimuli
Retro video
Retro report
Baranek, 1999
Watson et al., 2007
- More repetitive motor actions
- More repetitive activities with objects
- More repetitive body movements
Retro video
Retro report
Prosp sibs
Osterling, Dawson, & Munson, 2002
Watson et al., 2007
Ozonoff, Macari, et al., 2008
- More unusual posturing Retro video Baranek, 1999
- More visual fixations
- More unusual visual explorations of objects
- More difficulty with disengaging attention
Prosp sibs
Retro report
Retro video
Prosp sibs
Zwaigenbaum et al., 2005
Watson et al., 2007
Baranek, 1999
Ozonoff, Macari, et al., 2008
- Less likely to: reach into birthday cake; clap;
stack blocks; scribble; bang on high-chair tray
Retro report Gernsbacher, Sauer, Geye,
Schweigert, & Hill Goldsmith, 2008
Self-Regulation
- More self-regulatory difficulties
- Less regulated sleep patterns
- More difficult to calm when upset
- More frequent and intense distress reactions
Retro report
Retro report
Prosp sibs
Gomez & Baird, 2005
Watson et al., 2007
Zwaigenbaum et al., 2005
Expressive Language and Communication
- Lower expressive language standard scores Prosp sibs Zwaigenbaum et al., 2005
- Smaller consonant inventory
- Less babbled syllables with consonants
Prosp sibs
Prosp pop
Retro report
Paul, Fuerst, Ramsay,
Chawarska, & Klin, 2011
Veness et al., 2012
Watson et al., 2007
- Fewer vocalizations directed to others
- Less coordination of vocalizations and gaze
- Less initiation of communication
Prosp sibs
Prosp sibs
Prosp pop
Retro report
Zwaigenbaum et al., 2005
Ozonoff et al., 2010
Veness et al., 2012
Watson et al., 2007
- Smaller gesture inventory
- Fewer communicative gestures
- Fewer pointing and showing gestures
- Fewer pointing gestures to communicate
- Less likely to gesture for joint attention
Prosp sibs
Prosp pop
Retro report
Retro video
Retro video
Zwaigenbaum et al., 2005
Veness et al., 2012
Watson et al., 2007
Osterling et al., 2002
Watson, Crais, Baranek, Dykstra, & Wilson, in press
Receptive Language and Communication
- Lower standardized receptive language scores Prosp sibs
Prosp sibs
Zwaigenbaum et al., 2005
Ozonoff et al., 2010
- Less response to name
- Less response to joint attention
- Fewer phrases understood
- Less response to “Where’s [familiar person or object]?”
Prosp sibs
Retro video
Retro report
Zwaigenbaum et al., 2005
Osterling et al., 2002
Watson et al., 2007
Play
- More play with part of toy vs. whole toy
- More likely to play with only a few toys
Retro report Watson et al., 2007
Other Social Features
- Atypical eye contact
- More averting gaze from others’ eyes
- Less gaze to faces
- Less looking at others
Prosp sibs
Retro report
Prosp sibs
Retro video
Prosp pop
Zwaigenbaum et al., 2005
Watson et al., 2007
Ozonoff et al., 2010
Osterling et al., 2002
Veness et al. 2012
- More content to play alone
- Less interest in other babies
- Harder to get baby to play social games
- Harder to elicit social smile
- Less imitation of others’ behaviors
- Less looking at objects held by others
Retro report
Retro video
Watson et al., 2007
Osterling et al., 2002
- Harder to read baby’s facial expressions Retro report Watson et al., 2007
Key: Retro report = Retrospective parent reports on infant behavior; Retro video = Analyses of home videos of children during infancy; Prosp sibs = Prospective studies of infant siblings of children diagnosed with ASD; Prosp pop = Prospective population-based sample
Key: Retro report = Retrospective parent reports on infant behavior; Retro video = Analyses of home videos of children during infancy; Prosp sibs = Prospective studies of infant siblings of children diagnosed with ASD; Prosp pop = Prospective population-based sample×
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