ArticleBrain sciences2024
A Normative Model Representing Autistic Individuals Amidst Autism Spectrum Phenotypic Heterogeneity.
Article in Brain sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Neurobiological Relationships Between Neurodevelopmental Disorders and Mood Disorders.Brain sciences · 2025Review
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10 authors.
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Abstract
backgroundCurrently, there is a need for approaches to understand and manage the multidimensional autism spectrum and quantify its heterogeneity. The diagnosis is based on behaviors observed in two key dimensions, social communication and repetitive, restricted behaviors, alongside the identification of required support levels. However, it is now recognized that additional modifiers, such as language abilities, IQ, and comorbidities, are essential for a more comprehensive assessment of the complex clinical presentations and clinical trajectories in autistic individuals. Different approaches have been used to identify autism subgroups based on the genetic and clinical heterogeneity, recognizing the importance of autistic behaviors and the assessment of modifiers. While valuable, these methods are limited in their ability to evaluate a specific individual in relation to a normative reference sample of autistic individuals. A quantitative score based on axes of phenotypic variability could be useful to compare individuals, evaluate the homogeneity of subgroups, and follow trajectories of an individual or a specific group. Here we propose an approach by (i) combining measures of phenotype variability that contribute to clinical presentation and could impact different trajectories in autistic persons and (ii) using it with normative modeling to assess the clinical heterogeneity of a specific individual.
methodsUsing phenotypic data available in a comprehensive reference sample, the Simons Simplex Collection (
resultsThree PCs embedded 72% of the normative sample variance. PCA-projected dimensions supported normative modeling where a multivariate normal distribution was used to calculate percentiles. A Multidimensional General Functionality Score (MGFS) to evaluate new prospective single subjects was developed based on percentiles.
conclusionsOur approach proposes a basis for comparing individuals, or one individual at two or more times and evaluating homogeneity in phenotypic clinical presentation and possibly guides research sample selection for clinical trials.
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