Author

Giulia Spoto

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Open access Sep 2026

Association Between Toe Walking and Repetitive Behaviors in Children with Autism Spectrum Disorder: A Cross-Sectional Phenotypic Analysis

Background and Objectives: Toe walking (TW) is frequently observed in children with Autism Spectrum Disorder (ASD), yet its clinical significance remains incompletely understood. While previous studies have linked TW to ASD severity and multisystem involvement, its relationship with the behavioral phenotype of repetiti...

M. Gnazzo, G. Bargiacchi, B. Gallai et al. · Medicina · 0 citations

Open access Aug 2026

Genetic Heterogeneity in Autism Spectrum Disorder: Diagnostic Yield, Recurrent Genes, and Rare Variant-Phenotype Associations from Whole-Exome Sequencing

Overall, this integrative WES study provides clinically actionable diagnoses, highlights recurrent genes, and uncovers phenotype-specific signals, supporting convergent pathways with gene-level heterogeneity.

Zainab Gaouzi, Giulia Spoto, F. Polito et al. · International Journal of Mol... · 0 citations

Case report Open access Aug 2026

RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome

This case expands the clinical spectrum associated with RFX3 variants, supporting a potential role in IESS and early neurodevelopmental disruption, and highlights the relevance of including RFX3 in the genetic evaluation of patients with IESS and co-occurring neurodevelopmental disorders.

Graziana Ceraolo, Giulia Spoto, M. Trivisano et al. · International Journal of Mol... · 0 citations