Studying the Emergence of Autism Spectrum Disorders in High-risk Infants: Methodological and Practical Issues

Abstract

Detecting early signs of autism is essential for timely diagnosis and initiation of effective interventions. Several research groups have initiated prospective studies of high-risk populations including infant siblings, to systematically collect data on early signs within a longitudinal design. Despite the potential advantages of prospective studies of young children at high-risk for autism, there are also significant methodological, ethical and practical challenges. This paper outlines several of these challenges, including those related to sampling (e.g., defining appropriate comparison groups), measurement and clinical implications (e.g., addressing the needs of infants suspected of having early signs). We suggest possible design and implementation strategies to address these various challenges, based on current research efforts in the field and previous studies involving high-risk populations.

Social and attention factors during infancy and the later emergence of autism characteristics

“…In the hope of discovering early markers of the condition, attention has recently turned to the study of infant siblings of children with autism (Elsabbagh & Johnson, 2010;Yirmiya & Charman, 2010;Zwaigenbaum et al, 2007). Since the condition is highly heritable, later-born siblings of diagnosed children are at substantially higher risk for developing the condition than the general population (Bolton, Pickles, Murphy, & Rutter, 1998).…”

Variation in Vocal-Motor Development in Infant Siblings of Children with Autism

“…Our focus is on the later-born infant siblings of children diagnosed with autism. These infant siblings are themselves at especially high risk for an autism or ASD diagnosis (e.g., Zwaigenbaum et al, 2005; see also Zwaigenbaum et al, 2006). The larger ongoing study observes infants prospectively at monthly intervals from the ages of 5-14 months with follow-up at 3-month intervals from 18 to 36 months.…”

Early Identification of Autism Spectrum Disorder: Recommendations for Practice and Research

“…[11][12][13] Rich insights from these data (complemented by experimental work that helped delineate key foundational processes impaired in ASD, such as affect sharing and joint attention 14,15 ) helped to inform the development of ASD-screening tools and surveillance efforts by community health professionals. 16 Over the past decade, important advances in research have been made into the early development of ASD, incorporating prospective research designs 17 and new technologies aimed at more precisely delineating the early emergence of ASD. 18,19 Advances have also been made in identifying potential biomarkers (eg, genetic, neuroimaging), although there are important clinical and ethical considerations regarding their potential application.…”