Cognitive phenotypes in typical development and Autism Spectrum Disorder

Objective: To investigate if different cognitive subtypes occur within typical development and Autism Spectrum Disorder (ASD).

Cognitive atypicalities in central coherence (CC), executive function (EF) and theory of mind (ToM) are highly prevalent in ASD. These cognitive atypicalities could potentially be cognitive endophenotypes of ASD. Latent class analysis (LCA) was used to identify more homogenous cognitive subgroups in typical development and ASD based on cognitive task performance.

158 adolescents diagnosed with ASD, 71 of their unaffected co-twins, and 159 controls completed twelve cognitive tasks to assess cognitive domains of local processing, central coherence (CC), executive function (EF) and theory of mind (ToM).

Performance on cognitive tasks was used to index if a participant had an atypicality in a cognitive domain, defined as atypical performance in at least one task in that cognitive domain. This index was used in 6 LCAs conducted separately for each participant group.

The best LCA model had 4 subgroups for ASD, 3 subgroups for co-twins and 4 subgroups for the control group. For ASD; subgroup 1 had CC, EF, ToM atypicalities, subgroup 2 had CC atypicalities, subgroup 3 had no atypicalities, and subgroup 4 had multiple atypicalities.

Few individuals had cognitive atypicalities in typical development. However, multiple cognitive atypicalities were highly prevalent in ASD. These cognitive subgroups may useful for informing diagnosis and treatment options.