Early intervention and sibling imitation in autism spectrum disorder: A twin case report with exploratory SNP analysis

Abstract

We present a fraternal twin case study that underscores the importance of early diagnosis and targeted intervention in autism spectrum disorder (ASD), demonstrating the potential for substantial symptom reduction or even loss of diagnosis. Despite shared genetics and environment, the twins showed markedly different outcomes: Patient 1 exhibited substantial improvement, and no longer met ASD criteria, while Patient 2 progressed more slowly. Notably, Patient 1 displayed negative imitation, mirroring behaviors of his more severely affected twin. Genetic analysis of Patient 2 revealed ASD- associated variants (CNTNAP2 rs7794745 A/T, NRP2 rs849563 T/G, and OXTR rs2254298 G/G), which are implicated in neuronal development, synaptic pruning, and social cognition. These findings highlight the influence of sibling dynamics in multi-affected families and underscore the need for larger cohort studies to clarify the role of these polymorphisms in ASD within the Azerbaijani population.