Early Identification and Interventions for Autism Spectrum Disorder: Executive Summary

Abstract

Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by impaired social communication skills and isolated areas of interest. 1 The current prevalence of these disorders is estimated to be 1 in 68, 2 and recent estimates of the risk of recurrence in families with at least 1 child diagnosed with ASD are 10% to 19%. [3][4][5] Advances have been made in identifying genetic variants that can account for biological vulnerability to ASD, 6,7 although recent studies examining patterns of heredity implicate environmental factors and potential gene-by-environment interactions. 8 Although the exact etiology remains unknown in most families, some researchers suggest that the pathogenesis of the disorder begins during prenatal life. 9,10 It is likely that ASD is heterogeneous in its etiology as well as in its clinical presentation. 11The American Academy of Pediatrics has recommended screening for ASDs at 18 and 24 months of age, 12 but recent research suggests that atypical behaviors may be detectable in some children at even younger ages. 13,14 However, we are still learning how the timing and developmental course of early ASD symptoms vary across children and how best to detect such symptoms across the continuum of children seen in community practice. In addition, reports 15 that early intervention can improve developmental and behavioral outcomes in infants and toddlers have lent urgency to identifying children across the autism spectrum at an earlier age. Advances in genetic, neuroimaging, and other neurobiological research have also raised the potential of biomarker screening. Given the progress in these areas, a review of the current state of the science on early identification, screening, and intervention of ASD was warranted.These issues were the focus of an international, multidisciplinary panel of clinical practitioners and researchers with expertise in ASD and developmental disabilities. A meeting of the panel was convened in Marina del Rey, California in October, 2010, to develop best practice standards for early identification, screening, and early intervention for ASD in very young children and to identify priorities for future research. To complement previously published reports, our literature review on early identification and screening for ASD focused on children aged #24 months, whereas our review of intervention studies focused on children aged #36 months. The panel reached consensus in 3 areas:What are the earliest signs and symptoms of ASD in children aged #24 months that can be used for early identification?How can we optimize developmental course and outcomes through ASD screening programs for children aged #24 months?What interventions have shown efficacy in children with ASD aged ,36 months?

In Search of Biomarkers for Autism Spectrum Disorder

“…Drug development for core impairments in the social and communicative domains has been limited, in part due to a lack of well validated, sensitive measures suitable for clinical trials across the life span [Anagnostou et al, ; Baxter et al, ; Brugha, Doos, Tempier, Einfeld, & Howlin, ; Zwaigenbaum et al, ; Zwaigenbaum, Bryson, & Garon, ], in contrast to restricted interests, repetitive behaviors, and anxiety, where such measures are available [Lecavalier et al, ; Scahill et al, ]. There are even larger gaps in the development of valid core symptom outcome measures and biomarkers (defined as “a characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes or pharmacologic responses to a therapeutic intervention” [Strimbu & Tavel, ]), for adults with ASD [Brugha et al, ].…”

Psychophysiological responses to emotions of others in young children with autism spectrum disorders: Correlates of social functioning

“…Over the past two decades, research dedicated to the assessment and treatment of Autism Spectrum Disorder (ASD) has made a shift to early childhood and even infancy [Bradshaw, Steiner, Gengoux, & Koegel, ; Daniels, Halladay, Shih, Elder, & Dawson, ; Dawson & Bernier, ; Zwaigenbaum et al, ]. While there is increased consensus for reliable identification of ASD before 24 months, interventions for infants in this period remain limited [Bradshaw et al, ].…”

“…Early identification of ASD is mainly based on behavioral characteristics, parent concerns, and early markers observed in clinical practice. In addition to these important observations, integrating early biological processes of derailing social behavior is necessary to identify and target the developmental trajectory of ASD, especially considering the large heterogeneity in ASD [Zwaigenbaum et al, ]. Objectively and sensitively studying mechanisms that are closely related to social functioning during critical periods of development in childhood could not only contribute to the identification of early markers but may also serve as indicators for tailored treatment approaches in these early years [Dawson & Bernier, ; Landa, ].…”

Research Review: Outcomes of 24‐ to 36‐month‐old children with autism spectrum disorder vary by ascertainment strategy: a systematic review and meta‐analysis

“…To date, no studies have attempted to probe these potential sources of sampling bias. In the first 3 years of life, ASD expression can be fluid and highly variable, and clinical diagnosis is a complicated, and, to some degree, a subjective process (Zwaigenbaum et al., ). Given the current framework of categorical boundaries defining ASD, we do not have any evidence on the extent, or direction, to which dynamic and evolving symptom expression may be biasing the outcomes of children with ASD across ascertainment strategies.…”