Diagnostic Stability and Phenotypic Differences Among School-Age Children Diagnosed With ASD Before Age 2

Abstract

Given the importance of early detection, it is critical to understand the non-linearity in manifestation of ASD before age 24 months, when ASD symptoms are beginning to consolidate, through the age of 36 months when stability of ASD diagnosis is reportedly high into school-age when increased demands may challenge previously successful compensatory processes and permit first ASD detection. We employed a prospective, longitudinal design focused on children with an older sibling with ASD (n = 210) who received diagnostic evaluations at mean ages of 15.4 months (Time 1), 36.6 months (Time 2), and 5.7 years (Time 3) to examine: (1) diagnostic stability, (2) developmental trajectories associated with different patterns of ASD vs. non-ASD classifications, and (3) predictors of classification group over time. Clinical best estimate (CBE) diagnosis of ASD or non-ASD was made at each time point. Linear mixed-effects models were implemented to examine differences in developmental trajectories of stable and dynamic diagnostic groups. Multinomial logistic regression analyses were used to examine predictors of the likelihood of belonging to each CBE diagnostic classification group. Results revealed that sensitivity and stability of an ASD diagnosis significantly increased from Time 1 (sensitivity: 52%; stability: 63%) to Time 2 (sensitivity: 86%; stability: 68%). Different developmental trajectories of autism symptom severity and non-verbal and verbal IQ were observed across groups, with differences first observed at Time 1 and becoming more pronounced through Time 3. Presence of restricted and repetitive behaviors as well as limitations in initiation of joint attention and expressive language skills differentially predicted the likelihood of belonging to the different CBE diagnostic classification groups. Results suggest that ASD symptoms may emerge or attenuate over time, with some children meeting diagnosis at follow-up, and other children no longer meeting diagnostic criteria. From a systems perspective, diagnostic non-linearity may be viewed as a dynamic developmental process, where emergent properties arising from various biological, genetic, and experiential factors interact, culminating in phenotypic phenomena that change over time. Clinical implications include extending universal ASD and social communication screening into school-age, supporting families' understanding of diagnostic shifts, and ensuring unbiased diagnostic decision-making when following children with ASD.