Autism spectrum disorder (ASD) is associated with brain overgrowth, but it has been unclear how this relates to behavioural symptoms. In a longitudinal neuroimaging study of young children at high familial risk of autism, Heather Hazlett and colleagues now show that high-risk children who receive a diagnosis of ASD at 24 months of age had an increased cortical growth rate at 612 months. Early overgrowth in high-risk children is associated with social impairments at 24 months, and imaging data obtained at 6 and 12 months can predict an ASD diagnosis at 24 months in high-risk children. These findings indicate that differences in the developmental trajectory towards ASD emerge as early as the first year of life.

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Early brain development in infants at high risk for autism spectrum disorder

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are identified in 2 domains: social communication/interaction and restrictive, repetitive patterns of behavior. Children and youth with ASD have service needs in behavioral, educational, health, leisure, family support, and other areas. Standardized screening for ASD at 18 and 24 months of age with ongoing developmental surveillance continues to be recommended in primary care (although it may be performed in other settings), because ASD is common, can be diagnosed as young as 18 months of age, and has evidenced-based interventions that may improve function. More accurate and culturally sensitive screening approaches are needed. Primary care providers should be familiar with the diagnosticcriteria for ASD, appropriate etiologic evaluation, and co-occurring medical and behavioral conditions (such as disorders of sleep and feeding, gastrointestinal tract symptoms, obesity, seizures, attention-deficit/hyperactivity disorder, anxiety, and wandering) that affect the child’s function and quality of life. There is an increasing evidence base to support behavioral and other interventions to address specific skills and symptoms. Shared decision making calls for collaboration with families in evaluation and choice of interventions.  This single clinical report updates the 2007 American Academy of Pediatrics clinical reports on the evaluation and treatment of ASD in one publication with an online table of contents and section view available through the American Academy of Pediatrics Gateway to help the reader identify topic areas within the report.

Identification, Evaluation, and Management of Children With Autism Spectrum Disorder.

This article reviews current evidence for autism spectrum disorder (ASD) interventions for children aged <3 years, based on peer-reviewed articles published up to December 2013. Several groups have adapted treatments initially designed for older, preschool-aged children with ASD, integrating best practice in behavioral teaching methods into a developmental framework based on current scientific understanding of how infants and toddlers learn. The central role of parents has been emphasized, and interventions are designed to incorporate learning opportunities into everyday activities, capitalize on "teachable moments," and facilitate the generalization of skills beyond the familiar home setting. Our review identified several comprehensive and targeted treatment models with evidence of clear benefits. Although some trials were limited to 8- to 12-week outcome data, enhanced outcomes associated with some interventions were evaluated over periods as long as 2 years. Based on this review, recommendations are proposed for clinical practice and future research.

Early Intervention for Children With Autism Spectrum Disorder Under 3 Years of Age: Recommendations for Practice and Research

Vineland Adaptive Behavior Scales, Second Edition

Early identification of autism spectrum disorders.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication and interaction, and the presence of restricted and repetitive behaviors and interests Although evidence suggests that ASD has genetic causes (O’Roak & State, 2008), diagnosis relies on observations of behavioral manifestations The average age of diagnosis remains well over three (Mandell, Novak, & Zubritsky, 2006), although the American Academy of Pediatrics recommends that all children be screened for ASD much earlier–at 18 and 24 months (Johnson & Myers, 2007) There is a clear need for diagnostic tools and practices for children who screen positive at these young ages However, because diagnosis in toddlers is relatively new, clinicians face a number of important challenges that warrant further research The stability of early diagnoses, the utility of diagnostic tools for toddlers, and patterns of symptom change in the first few years of life are among a number of questions critical to professionals making early diagnoses

Stability of Early Clinical Diagnoses of ASD
High rates of stability of the broader diagnosis of ASD (rather than specific diagnoses within the spectrum) have been demonstrated in children first diagnosed by age three or older, with estimates ranging from 80 to 100% (see Woolfenden, Sarkozy, Ridley, & Williams, 2012 for a review) However, some estimates for children diagnosed under age three are lower and findings are more variable, ranging from 54 to 100% While 4 of the 11 studies of children diagnosed with Autistic Disorder or ASD under age three reviewed by Woolfenden and colleagues (2011) reported a 100% stability rate, two studies reported rates under 70% (Stone et al, 1999; Turner & Stone, 2007)

In addition to being disparate, these findings may not generalize well to the larger population of toddlers with ASD, as they have consisted of high-risk children (ie, those with an older sibling with ASD or who are referred because of parental or professional concern), or included only relatively lower-functioning children Thus, there is a need to examine diagnostic stability in samples screened in the community that yield participants diverse in symptoms and developmental functioning who may not garner parent or professional concern Findings also need to be extended to younger children, because although children are being screened at increasingly younger ages, just two studies of diagnostic stability have included children under age two Encouragingly, both studies reported 100% stability for initial diagnoses of ASD (Chawarska, Klin, Paul, Macari, & Volkmar, 2009; Cox et al, 1999) However, neither study reported on stability of children with unclear diagnostic presentations at these young ages


Accuracy of Diagnostic Tools for Young Children
Most studies utilize clinical best-estimate diagnoses made by experienced clinicians, a practice that remains the gold standard for diagnosing ASD (Volkmar, Chawarska, & Klin, 2005) However, a standardized observation is crucial to inform clinical diagnosis (Lord & Bishop, 2010) Among the most widely used and validated tools is the Autism Diagnostic Observation Schedule (ADOS; Lord, Rutter, DiLavore, & Risi, 1999) However, it has limited utility with toddlers, as it has unacceptable specificity in children with nonverbal mental ages below 16 months (Gotham, Risi, Pickles, & Lord, 2007)

The ADOS – Toddler Module (ADOS-T) was developed to address these limitations (Lord, Luyster, Gotham, & Guthrie, 2012) and demonstrated excellent sensitivity and specificity in the validation study (Luyster et al, 2009) There is a need to examine its utility in other samples as the validation sample included only high-risk children Of additional importance is the predictive validity of the “ranges of concern,” which its authors recommend to index risk for ASD While these concern ranges were shown to be largely consistent with concurrent clinical diagnosis (Luyster et al, 2009), their utility in predicting later diagnosis has yet to be examined


Symptom Severity Change in Young Children
Another issue critical to the evaluation of toddlers is symptom change within the first years of life, as symptom severity may be more variable than diagnostic status Clinicians may observe significant changes in the frequency and severity of symptoms as the clinical presentation of ASD unfolds, further complicating early diagnosis However, existing evidence is still emerging and findings are relatively inconsistent

Improvement of social communication skills, such as joint attention, response to name, and verbal communication, has been reported (Nadig et al, 2007; Sullivan et al, 2007; Yoder, Stone, Walden, & Malesa, 2009), although stability in more global measures of social symptom severity has also been found (Chawarska, Klin, Paul, & Volkmar, 2007) Evidence exists for other trajectories, including plateauing (ie, developmental slowing) or even worsening (ie, loss) of these skills in a subgroup of children (Landa, Holman, & Garrett-Mayer, 2007; Lord, Luyster, Guthrie, & Pickles, 2012; Ozonoff, Heung, Byrd, Hansen, & Hertz-Picciotto, 2008) Greater understanding of changes in symptom severity in toddlers would inform studies of diagnostic stability, as changes in symptoms are likely to accompany movement on or off the autism spectrum, but may also be observed in children with stable diagnostic presentations

The purpose of this study was to examine stability of clinical diagnosis and symptom presentation, and the utility of a diagnostic tool in making a clinical diagnosis The study utilized a prospectively-identified community sample that received a diagnostic evaluation at 15–24 months of age and a follow-up evaluation at least one year later The specific research aims were to examine the (1) short-term stability of clinical diagnoses, (2) concurrent and predictive utility of ADOS-T classifications and scores, and (3) short-term change in symptom severity

/pdf/early-diagnosis-of-autism-spectrum-disorder-stability-and-15qrjpywof.pdf

Early diagnosis of autism spectrum disorder: stability and change in clinical diagnosis and symptom presentation

The purpose of this study was to examine the utility of the Systematic Observation of Red Flags (SORF; Dow et al., 2016) as a level 2 screener for autism spectrum disorder (ASD) in toddlers during a naturalistic video-recorded home observation. Psychometric properties of the SORF were examined in a sample of 228 toddlers-84 with ASD, 82 with developmental delay (DD), and 62 with typical development (TD). Trained undergraduate research assistants blind to diagnosis rated 22 red flags (RF) of ASD associated with DSM-5 diagnostic criteria using a 4-point scale. The following scores were computed: a total score summing all items, domain scores summing social communication and restricted, repetitive behavior items, and number of RF counting items with scores of 2 or 3 indicating clear symptom presence. The performance of the total, domain, and RF scores and individual items were examined. A composite score was formed with six items with the best psychometric performance: poor eye gaze directed to faces, limited showing and pointing, limited coordination of nonverbal communication, less interest in people than objects, repetitive use of objects, and excessive interest in particular objects, actions, or activities. The 6-item composite provides a brief measure with optimal performance, while the RF may be instrumental for clinicians who are interested in characterizing the range of observed symptoms. The SORF shows promise as a practical alternative to currently available screening methods for implementation by nonexperts with the potential to increase feasibility and reduce common obstacles to access to care. Autism Res 2020, 13: 122-133. © The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: Research suggests that current autism spectrum disorder (ASD) screening tools are not accurate enough to use in routine screening. The Systematic Observation of Red Flags was developed as a practical option for children at high risk for ASD. It can be used with video-recorded samples of parent-child interactions in the home and by raters who are not experts in ASD. It shows promise in predicting ASD risk in toddlers to determine if a full diagnostic evaluation is necessary.

https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2226

Screening for autism spectrum disorder in a naturalistic home setting using the systematic observation of red flags (SORF) at 18-24 months.

The earliest signs of autism spectrum disorder (ASD) may appear at 12 to 14 months of age, and a diagnosis of ASD can be made in the second year of life by experienced professionals.1-3 Research indicates that early intervention is effective in improving children’s developmental trajectories and reducing autism symptoms.4,5 However, the average age of diagnosis for ASD is approximately 41⁄2 years,6 and the age of diagnosis is further delayed for children from underserved areas, low-income, and minority families.7 The American Academy of Pediatrics (AAP) recommends screening all children for ASD at 18 to 24 months.8 However, a recent US Preventive Services Task Force report found inconclusive evidence to support universal screening in primary care prior to parents’ expression of concerns.9 One barrier to consistent early screening is lack of well-validated ASD-specific screeners for younger toddlers.10 Studies of the Modified Checklist for Autism in Toddlers (M-CHAT),11 a widely used screening tool for ASD, suggest that it may miss more children with ASD than it catches when implemented at 18 months12 and may perform better for older (eg, 24-30 months) than younger (eg, 16-23 months) toddlers.13,14 In addition, surveys of health care professionals suggest variability in the rates at which they follow the screening guidelines set forth by the AAP.15,16 Bridging research to practice gaps is a national priority, as the reported prevalence of ASD6 and societal costs increase.17 Building capacity of providers to recognize early signs of ASD is critical to early detection and increased access to early intervention services. Approximately 95% of children complete routine health supervision visits from birth to 3 years of age.18 Therefore, primary care physicians represent a crucial target for support on screening, diagnosis, and evidencebased intervention.19,20 Online professional development and the utilization of digital screening tools are 2 potential avenues to facilitate large-scale practice change. Online coursework is cost-efficient, timeflexible, delivered with high procedural fidelity, and has been found to be as effective as other training methods.21 Evidence suggests that using digital platforms for screening in primary care is feasible, may identify more children, may increase follow-up screens, and that families from diverse socioeconomic backgrounds report positive experiences with online screening tools.22,23

https://journals.sagepub.com/doi/pdf/10.1177/0009922819900947

Charly Nottke

Papers

Early diagnosis of autism spectrum disorder: stability and change in clinical diagnosis and symptom presentation

Screening for autism spectrum disorder in a naturalistic home setting using the systematic observation of red flags (SORF) at 18-24 months.

Integrating a New Online Autism Screening Tool in Primary Care to Lower the Age of Referral