Disability versus Difference over Development in the Autisms

Introduction

Autism is an early developing condition diagnosed on the basis of difficulties in the domains of social-communication and restricted repetitive behaviors. However, the single label of ‘autism’ masks a large degree of heterogeneity at multiple scales, from genome to phenome, and may not signal differential needs and services required for some types of profoundly affected individuals.

Research Objectives

In order to better understand autism and develop more impactful ways to facilitate positive outcomes at an individualized level, we need better models that help to explain how autism may be differentiated in meaningful ways. This differentiation can help explain variability in:

1. Developmental paths
2. Responses to treatment
3. Differential underlying neurobiological mechanisms

The AUTISMS-3D Model

This research program develops and tests the AUTISMS-3D model – disability versus difference over development - as a first-level major distinction for explaining heterogeneity within the autism population.

Key Postulates

AUTISMS-3D postulates that the major first-level split within the autism population is between subtypes described by:

• Profound disability
• Difference in developmental outcomes

Methodology

Stratification Models

Stratification models using standardized clinical measures of:

1. Intellectual functioning
2. Language
3. Adaptive behavior

will be used to predict ‘disability’ versus ‘difference’ subtypes. These stratification models are based on highly reproducible data-driven clustering analyses from very large phenotypic datasets.

Longitudinal Analyses

We will then test how the subtypes may develop differently with analyses of big clinical longitudinal datasets and also within the context of early intervention.

Neurobiological Testing

Finally, we will test the subtypes for neurobiological differences via:

• Neuroimaging (MRI, fMRI, DTI)
• Electrophysiological (EEG)
• Gaze phenotypes (e.g., eye tracking) under static and naturalistic viewing conditions.

Conclusion

The research will help refine our understanding and concepts of autism and will be an important next step on the path to precision medicine for the autisms.