Identify a disorder of interest to you. Locate at least 3 empirical research articles that relate to that topic. Your 3-page
Identify a disorder of interest to you. Locate at least 3 empirical research articles that relate to that topic. Your 3-page literature review should include: History of the disorder, Known risk factors or predictors of the disorder, Characteristics of the disorder and how it is assessed and diagnosed, Review of promising treatment strategies at the micro, macro, and mezzo level. Create a 3-page literature review of these articles (using the correct APA citation format).
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Future Directions for Infant Identification and Intervention for Autism Spectrum Disorder from a Transdiagnostic Perspective
Meagan R. Talbott & Meghan R. Miller
To cite this article: Meagan R. Talbott & Meghan R. Miller (2020): Future Directions for Infant Identification and Intervention for Autism Spectrum Disorder from a Transdiagnostic Perspective, Journal of Clinical Child & Adolescent Psychology, DOI: 10.1080/15374416.2020.1790382
To link to this article: https://doi.org/10.1080/15374416.2020.1790382
Published online: 23 Jul 2020.
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Future Directions for Infant Identification and Intervention for Autism Spectrum Disorder from a Transdiagnostic Perspective Meagan R. Talbott and Meghan R. Miller
MIND Institute and Department of Psychiatry & Behavioral Sciences, University of California, Davis
ABSTRACT By the time they are typically detected, neurodevelopmental disorders like autism spectrum disorder (ASD) are already challenging to treat. Preventive and early intervention strategies in infancy are critical for improving outcomes over the lifespan with significant cost savings. However, the impact of prevention and early intervention efforts is dependent upon our ability to identify infants most appropriate for such interventions. Because there may be significant overlap between prodromal symptoms across neurodevelopmental disorders and child psycho- pathology more broadly which may wax and wane across development, we contend that the impact of prevention and early intervention efforts will be heightened by identifying early indicators that may overlap across ASD and other commonly co-occurring disorders. This paper summarizes the existing literature on infant symptoms and identification of ASD to demonstrate the ways in which a transdiagnostic perspective could expand the impact of early identification and intervention research and clinical efforts, and to outline suggestions for future empirical research programs addressing current gaps in the identification-to-treatment pipeline. We pro- pose four recommendations for future research that are both grounded in developmental and clinical science and that are scalable for early intervention systems: (1) development of fine- grained, norm-referenced measures of ASD-relevant transdiagnostic behavioral domains; (2) identification of shared and distinct mechanisms influencing the transition from risk to disorder; (3) determination of key cross-cutting treatment strategies (both novel and extracted from existing approaches) effective in targeting specific domains across disorders; and (4) integration of identified measures and treatments into existing service systems.
By the time they are typically detected, neurodevelopmen- tal disorders like autism spectrum disorder (ASD) are already challenging to treat. ASD is increasingly prevalent, emerges early in development, and is associated with sig- nificant long-term impairment (Bal et al., 2015; Howlin & Magiati, 2017; Howlin et al., 2013). The economic burden resulting from elevated health-care costs, costs to families, and costs associated with lost work represents an issue of considerable public health concern (Lavelle et al., 2014). Preventive and early intervention strategies are likely to be the most effective approaches to improving outcomes over the lifespan, with significant cost savings (Chasson et al., 2007; Cidav et al., 2017; Kim et al., 2018; Knudsen et al., 2006). However, the impact of these efforts is dependent upon our ability to identify infants and very young children most appropriate for such interventions.
Over the past two decades, there have been substan- tial efforts to uncover the earliest emerging signs of ASD. One of the key clinical implications of these early
identification studies is earlier referral to evidence- based early intervention. While reliable diagnoses of ASD can be made as early as 18 months of age in some cases (Ozonoff et al., 2015; Zwaigenbaum et al., 2016), and although there are evidence-based treatments for toddlers with ASD (e.g., Carter et al., 2011; Dawson et al., 2010; Kaiser & Roberts, 2013; Kasari et al., 2006; R. L. Koegel et al., 1999; Lovaas, 1987; McEachin et al., 1993; see Sandbank et al., 2020 for a recent meta- analysis), the development of ASD-relevant and specific screening and intervention programs for infants has been hampered by a number of methodological and conceptual disagreements and a relative lack of fine- grained cross-disorder longitudinal comparisons. These issues have limited our understanding of early beha- vioral indicators and treatment targets that may be shared across, or distinct between, ASD and other emer- ging neurodevelopmental disorders (and, perhaps, child psychopathology more broadly).
CONTACT Meagan R. Talbott [email protected]; Meghan R. Miller [email protected] MIND Institute and Department of Psychiatry & Behavioral Sciences, University of California, Davis, Sacramento, CA 95817 The authors contributed equally to this work.
JOURNAL OF CLINICAL CHILD & ADOLESCENT PSYCHOLOGY https://doi.org/10.1080/15374416.2020.1790382
© 2020 Society of Clinical Child & Adolescent Psychology
While it is critical for diagnostic purposes to identify disorder-specific early behavioral indicators, we con- tend that the impact of prevention and early interven- tion efforts will be heightened by also identifying early indicators that may overlap across ASD and other commonly co-occurring disorders. Indeed, a range of other conditions are frequently comorbid with ASD, including attention-deficit/hyperactivity disorder (ADHD), anxiety disorders, externalizing disorders, and mood disorders (Abdallah et al., 2011; Houghton et al., 2017). Transdiagnostic approaches focus on iden- tifying processes that are shared across disorders and that underlie and maintain symptoms (Harvey et al., 2004; Nolen-Hoeksema & Watkins, 2011). This frame- work is frequently being utilized in the study of adult psychopathology, but has less often been applied to neurodevelopmental disorders, particularly in infancy and prior to diagnosis. These approaches could have wide-reaching effects, leading to treatments targeting impaired processes that can be applied across indivi- duals with, or at risk for, various disorders, thereby more efficiently leveraging the limited funding allo- cated to early intervention services. Indeed, if key shared factors can be identified early in life across children at high risk for a range of atypical develop- ment including ASD and common comorbidities, pre- vention and intervention programs targeting such factors may have wider-reaching applications than those targeting disorder-specific early indicators. Transdiagnostic prevention and intervention efforts would be especially impactful during the period in infancy when a child’s outcome is still unclear and symptoms are in the process of emerging. Intervening before symptoms have become clearly instantiated is closer to a true “prevention” model, which seeks to reduce the likelihood of symptoms emerging, in con- trast to a diagnostic-based approach which attempts to reduce or ameliorate clinically significant symptoms already present (Dawson, 2008; Dryden & Dryden, 2018).
The goals of this Future Directions paper are to summarize the existing literature on infant symptoms and identification of ASD, to demonstrate the ways in which a transdiagnostic perspective could address cur- rent challenges in early identification and intervention research and clinical efforts, and to outline suggestions for future empirical research programs addressing cur- rent gaps in the identification-to-treatment pipeline. Of note, we primarily focus on the first year of life, a period during which there is massive developmental plasticity and potential benefit from efficacious inter- ventions, but a period that is also characterized by significant phenotypic heterogeneity and overlap in
prodromal symptoms across neurodevelopmental dis- orders. We advocate for the development of a unified approach to early identification of ASD, neurodevelop- mental disorders, and child psychopathology more broadly that is both grounded in developmental and clinical science and scalable for early intervention systems.
Current Approaches to Infant Identification and Intervention: What Do We Know?
Infant Identification
Fulfilling the promise of early intervention requires efficacious early screening and identification of infants who will benefit. Initial studies focused on early identi- fication of ASD relied on retrospective analysis of infant/toddler home videos of diagnosed children (Osterling & Dawson, 1994; Osterling et al., 2002; Ozonoff, Iosif et al., 2011; Werner et al., 2000, 2005), providing crucial insights into early markers and pat- terns of symptom emergence and paving the way for prospective studies. However, although these studies offered some of the first opportunities to examine the early development of autism symptoms, there were significant methodological limitations (Palomo et al., 2006), resulting in a shift toward prospective high-risk infant studies given the high rates of recurrence within families, which near 20% (Ozonoff, Young et al., 2011). These prospective studies involve the recruitment of infants at familial risk for ASD – younger siblings of diagnosed children – from early in life in order to identify early indicators. Notably, they do not come without limitations themselves, the most prominent being questions around generalizability to non-familial cases of ASD.
Despite herculean efforts, more than a decade of research employing these prospective ‘infant sibling’ designs have failed to find robust behavioral markers specific to ASD risk in infants between the ages of 0 to 12 months (Zwaigenbaum et al., 2015). Rather, differ- ences at a group level have been documented most consistently between 12 and 24 months of age (Landa et al., 2013; Ozonoff et al., 2008, 2010; Szatmari et al., 2016), with rare exceptions of group differences prior to 12 months (Miller et al., 2017; Nyström et al., 2019). Thus, although a small number of infants demonstrate overt behavioral symptoms of ASD as early as the first year of life (Bryson et al., 2007; Chawarska et al., 2013; L. K. Koegel et al., 2013; Rogers et al., 2014), the emergence of ASD symptoms is most often insidious, consisting of gradual declines in core social commu- nication behaviors (Ozonoff et al., 2018; Ozonoff &
2 M. R. TALBOTT AND M. R. MILLER
Iosif, 2019). Beyond early behavioral indicators, a number of studies suggest that it may be possible to identify brain-based differences that capture increased risk before behavioral symptoms are present, including the presence of increased extra-axial cerebrospinal fluid (Shen et al., 2013, 2018), altered brain morphol- ogy (Wolff et al., 2015), differences in functional con- nectivity patterns (Pruett et al., 2015), and differences in microstructural properties of white matter fiber tracts (Wolff et al., 2012). The degree to which such measurements will be scalable and translatable to rou- tine clinical practice is unclear, however.
Because many psychiatric disorders share some overlapping risk factors (Gandal et al., 2018), a growing body of research has begun to focus on the intersection between ASD and other psychiatric condi- tions. For example, ADHD commonly co-occurs with ASD (Leitner, 2014) and is more prevalent among family members of individuals with ASD than in the general population (Ghirardi et al., 2018; Jokiranta- Olkoniemi et al., 2016; Miller et al., 2019). Research has suggested shared genetic influences (Stergiakouli et al., 2017), and studies comparing neural, cognitive, and behavioral profiles of ASD and ADHD have revealed some similarities (Geurts et al., 2004; Di Martino et al., 2013; Semrud-Clikeman et al., 2010). Additionally, some children who meet criteria for ASD in preschool “evolve” to exhibit behavioral phe- notypes more consistent with ADHD by middle child- hood (Fein et al., 2005). In a seminal review, Johnson et al. (2015) highlighted key behavioral domains that may be disrupted in the early development of both ASD and ADHD, including attention regulation, tempera- ment and self-regulation, social interaction and com- munication, motor skills, and sensory processing/ perception (Johnson et al., 2015). Recent work from one of our own research groups has found that reduced orienting to name – a behavior typically thought to serve as a specific early indicator of ASD (and one of the earliest-documented behavioral differences among infants developing ASD; Miller et al., 2017) – may in fact be a general marker for ASD and risk for ADHD earlier in infancy but become a more specific indicator of ASD by 24 months of age (Hatch et al., 2020). Likewise, we recently described a mixture of overlap- ping and distinct early markers of preschool ASD- and ADHD-like latent profiles which can be difficult to disentangle early in life (Miller et al., in press). These challenges may have significant clinical implications with respect to early identification and referral to early intervention; one study showed that diagnoses of ASD were delayed by an average of 3 years among
children who received initial diagnoses of ADHD (Miodovnik et al., 2015).
Similarly, anxiety disorders also frequently co-occur with ASD (Kirsch et al., 2020; see Kerns & Kendall, 2012 for a review), and anxiety symptom levels tend to be higher, on average, among unaffected family mem- bers of individuals with ASD (Howlin et al., 2015; Shephard et al., 2017). Recent work seeking to under- stand the overlap in early predictors of ASD and anxi- ety symptoms in middle childhood has highlighted some shared predictors based on parent ratings of infant temperament, including high levels of fearful- ness/shyness (Shephard et al., 2019).
These examples are intended to be illustrative, not exhaustive, but they highlight the point that it can be challenging to distinguish neurodevelopmental disor- ders and child psychopathology as they are emerging due to phenotypic and, possibly, etiological overlap, at least during certain periods of development. Some early behavioral indicators may overlap across these popula- tions serving as general indices of atypical development that could be leveraged for transdiagnostic treatment development efforts. Indeed, it is likely that transdiag- nostic or cross-disorder approaches to identification of early markers and disrupted processes could include ASD and a number of other conditions (e.g., schizo- phrenia). In our view, the overarching goals of this research are (1) to develop a deeper understanding of the pathogenesis of these conditions, and (2) to identify factors that could be tested as relevant targets of pre- vention and early intervention programs. Ultimately, for now we are still left asking, when and for whom should we intervene in infancy?
Infant Intervention
As noted at the outset, preventive and early intervention strategies are critical to improving outcomes over the lifespan for child psychopathology and neurodevelop- mental disorders (Jaffee, 2018; Sonuga-Barke & Halperin, 2010). With respect to ASD, our knowledge of early intervention in infancy is based on single-subject trials, small groups, and randomized controlled trials (RCTs) of both general developmental and ASD-specific interventions. The current early intervention system in the United States consists of programs for infants aged 0– 3 years, funded via Part C of the Individuals with Disabilities Education Act of 2004 (IDEA). States have some latitude in determining specific eligibility criteria, but basic criteria include documented developmental delays in one of the five specified developmental domains (cognition, motor, social-emotional, communication, or
JOURNAL OF CLINICAL CHILD & ADOLESCENT PSYCHOLOGY 3
adaptive behavior) or diagnosis that typically results in developmental delays (e.g., Down syndrome, deafness, autism). States can provide services to infants deemed at- risk for delays, but only four states currently do so (Rosenberg et al., 2013). Part C programs are mandated to include parents and to be delivered in natural settings; as such, most families receive low-intensity (1–2 h per week) services delivered via parent coaching in the home. The parent-mediated approach is also developmentally appropriate for infants when compared to other, more intensive ASD-specific approaches for toddlers.
To date, there have been only a handful of trials of ASD- specific treatment in infancy, all delivered via parent coach- ing. They have each focused on different groups of infants, utilized different intervention targets in terms of both child behavior and parent strategies, and used different outcome measures. Green and colleagues (Green et al., 2013, 2015, 2017) conducted a series of single-subject and randomized controlled trials testing the effects of a general develop- mental parent-mediated intervention, the Video Interaction for Promoting Positive Parenting (VIPP; Juffer et al., 2008) for infants at familial risk, irrespective of behavioral symptoms at enrollment. These trials found some effects on target parent behaviors and proximal child measures of attentiveness and communication initiations, but no effects on standardized language measures or diag- nostic classification at 3 years. In a subsequent RCT, Whitehouse et al. (2019) used the same intervention approach but targeted infants identified as at-risk for ASD based on a screening checklist. Again, they found no effects for the primary outcome on standardized measures of ASD symptoms, or secondary outcomes using standar- dized measures of development, behavior coding of par- ent–child interactions, or parent questionnaire measures of infant gesture, adaptive social functioning, or parenting sense of competence. There were some positive effects on parent-reported measures of expressive and functional language.
Other studies have focused on increasing specific “pivo- tal” infant behaviors, with or without also targeting par- ental responsivity, for symptomatic infants (Baranek et al., 2015; L. K. Koegel et al., 2013; Steiner et al., 2013; Watson et al., 2017). Two single-subject studies in this area demon- strated positive effects on specific target infant behaviors: functional communication, response to name, avoidance of eye contact, and positive affect (L. K. Koegel et al., 2013; Steiner et al., 2013). Watson et al. (2017) conducted an RCT with 87 one-year-olds identified as ‘at risk’ via com- munity screening to test the effects of a responsive parent coaching model targeting specific pivotal child skills across two domains: social communication and sensory-regula- tory. They found no significant main effect on primary child outcomes using standardized measures of ASD
symptoms, adaptive functioning, or language. However, there were significant increases in parental responsiveness, one of the hypothesized mediators of developmental change; changes in parent responsiveness mediated change on the majority of child outcome measures.
Finally, in a small pilot study, Rogers et al. (2014), coached parents of infants with significant early symptoms in strategies to address 6 targeted infant ASD symptoms. Treated infants were compared to groups of infants con- structed from existing datasets and matched to initial symptom level: infants with a known ASD outcome from a prior cohort, infants with ASD outcomes initially referred to treatment but who declined to participate, and high and low familial risk infant siblings with known non-ASD out- comes. Findings were mixed with respect to trajectories on standardized measures of language and cognitive develop- ment, but at 36 months, infants in the treatment group had lower scores on standardized measures of ASD symptoms, and a smaller proportion of infants with developmental quotients less than 70 or who received clinical best estimate diagnoses of ASD. In general, infants in the treatment group had more positive outcomes than infants who declined treatment but still differed significantly from the non-ASD outcome comparison groups.
Together, these studies suggest that although there are positive impacts on various domains of functioning, general developmental interventions are not likely to be effective in reducing core ASD symptoms (Kasari, 2019). They also suggest the need for better alignment between behavioral treatment targets and active ingre- dients of interventions, consistent with transdiagnostic, process-focused research into early markers of neuro- developmental disorders and child psychopathology.
Future Directions for Transdiagnostic Early Identification and Intervention: Challenges, Next Steps, and Implications
The fields of infant identification and intervention, reviewed above, face a number of challenges under the current diagnostically oriented framework. Here, we highlight what we perceive to be the most signifi- cant barriers and describe the ways in which a rigorous and systematic transdiagnostic approach may better address these challenges. We then propose future direc- tions for transdiagnostic early identification and inter- vention that will address these challenges.
Current Challenges in Infant Identification and Intervention
Measurement challenges. Although there exist a number of high-quality ASD screening measures with appropriate
4 M. R. TALBOTT AND M. R. MILLER
sensitivity and specificity beginning in the second year of life (e.g., Modified Checklist for Autism in Toddlers, Revised with Follow-Up, Robins et al., 2020; Infant- Toddler Checklist, Wetherby et al., 2008; First Year Inventory, Reznick et al., 2007; see Petrocchi et al., 2020 for a recent systematic review), a key issue is the relative paucity of robust universal screening and evaluation tools for use within the first year (to be sure, several such measures do exist, but sensitivity and specificity values tend not to be adequate until the second year of life; Parikh et al., 2020; Wetherby et al., 2008). Extending universal screening measures downward into infancy is challenging for a number of reasons. First, longitudinal data from high-risk infant siblings of children with ASD have revealed that although symptoms begin to emerge toward the end of the first year of life, there are not robust group differences between infants ultimately diagnosed with ASD and those with typical or other outcomes in the first year (for relevant reviews, see Elsabbagh & Johnson, 2016; Zwaigenbaum et al., 2015). Second, although bio- markers (e.g., EEG, MRI) may potentially be more sensi- tive to group differences before behavioral differences are evident (Bosl et al., 2018; Shen et al., 2013, 2017; Emerson et al., 2017; Hazlett et al., 2017), they are unlikely to be scalable or used universally in community-based settings. Third, there may be significant overlap between prodro- mal symptoms across neurodevelopmental disorders and child psychopathology more broadly (e.g., ASD, ADHD, anxiety) which may wax and wane across development (Begum Ali et al., 2020; Hatch et al., 2020; Miller et al., in press; Shephard et al., 2019), calling into question the specificity and long-term predictive validity of these tools and ultimately necessitating the shift to a transdiagnostic perspective.
Definitional Challenges Currently, there is a lack of consensus regarding the definition of elevated risk for ASD or optimal thresh- olds of prodromal features significant enough to war- rant intervention. Some have argued that all infants belonging to ’selective’ risk groups (e.g., infant siblings of children with ASD, infants with specific genetic syndromes, infants born prematurely or very low birth- weight) should be referred for preemptive intervention, regardless of individual behavioral symptoms (Green et al., 2017). Others suggest that infants with some degree of social communication delays with emerging restricted and repetitive behaviors be considered for early intervention (Watson et al., 2017). The most stringent definitions suggest that early intervention be reserved only for infants with clear, specific symptoms of ASD (Rogers et al., 2014) – an increasingly difficult threshold to meet the younger the infant’s age.
Currently under IDEA Part C, infants with significant social communication delays typically receive a mixture of speech therapy, developmental, and other allied health services (Hallam et al., 2009; Hebbeler et al., 2007). These developmental services are not ASD- specific and thus are unlikely to exert substantial effects on core symptoms (Ingersoll et al., 2014; Kasari, 2019).
Accessibility Challenges Accessibility challenges can be separated into two cate- gories: Those related to the measurement and defini- tional challenges described above, and those related to equity and geographical context. Given the lack of clear screening and assessment tools for evaluating specific ASD risk in infancy, families with concerns about ASD (or other neurodevelopmental disorders) often face extended delays between initial concerns and formal diagnosis or initiation of ASD-specific services (Zuckerman et al., 2015). In terms of contextual factors, there are clear disparities in racial and ethnic minori- ties’ access to specialists and to early, evidence-based evaluations for developmental delays, ASD, and other childhood disorders (Rosenberg et al., 2008; Smith et al., 2020). These issues are compounded in rural areas with limited access to specialists and high- quality university-based diagnostic and intervention services (Kalkbrenner et al., 2011; Nahmias et al., 2019). These accessibility issues are even more pro- nounced when considering infants at risk.
Recently, the vulnerability of our current system for evidence-based assessments – which typically involve the direct administration of standardized tools – has been highlighted under the extreme conditions of the COVID-19 global pandemic. The sudden cessation of in-person services has made it abundantly clear that new methods utilizing emerging technologies such as telehealth are desperately needed to maintain and expand access to services. There are currently very few norm-referenced assessment tools meeting IDEA requirements that can be administered remotely (Early Childhood Technical Assistance Center, 2020). These events have underscored the vulnerability of current early intervention services for very young children, who are in the developmental period most sensitive to benefits of early intervention delivery (L. K. Koegel et al., 2014).
Conceptual Challenges As alluded to previously, there is variability in concep- tual frameworks driving research into early markers of ASD and other conditions. Most have taken a disorder- specific approach, but it is becoming increasingly apparent that cross-disorder approaches may add
JOURNAL OF CLINICAL CHILD & ADOLESCENT PSYCHOLOGY 5
value both scientifically and clinically. The NIMH RDoC aims to reduce our reliance on diagnostic cate- gories and emphasize psychopathology-relevant beha- viors in an effort to enhance knowledge of underlying processes and mechanisms, and to support personalized medicine. This framework is becoming increasingly utilized in the study of adult psychopathology but has less-often been applied to child psychopathology and neurodevelopmental disorders. As a result, there have been growing calls to incorporate development into the RDoC framework (Garber & Bradshaw, 2020; Mittal & Wakschlag, 2017). There …
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J Autism Dev Disord DOI 10.1007/s10803-017-3339-2
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