Characterization of Language and Communication in a Child with Syndromic Microphthalmia Type 3 SOX2 Gene Mutation: Case Report

Abstract

Syndromic microphthalmia type 3, associated with a mutation in the SOX2 gene, is a rare congenital condition that is usually accompanied by multisystem alterations and significant impairment of neurological, sensory, and communicative development. The aim of this case report was to characterize language and communication in a six-year-old child diagnosed with syndromic microphthalmia type 3 and bilateral congenital blindness. A speech-language assessment was conducted through direct observation in a natural context, complemented by the application of standardized instruments for pediatric populations and visual impairment. The Rossetti Infant-Toddler Language Scale, the Leonhardt Scale, the Reynell-Zinkin Scales, and the Functional Communication Classification System (CFCS) were administered. The results demonstrated a global developmental delay, with communicative functioning equivalent to a developmental age below twelve months. Absence of functional verbal language was observed, along with limited use of vocalizations and gestures, few symbolic abilities, and marked dependence on adults to sustain interaction. According to the CFCS classification, the child was placed at Level IV, corresponding to an inconsistent communicator even with familiar partners, despite preserved communicative intent and relative strengths in nonverbal and pragmatic communication. In conclusion, this case confirms that mutation of the SOX2 gene is associated with a severely compromised and heterogeneous communicative profile, in which nonverbal communication constitutes a central axis for speech-language intervention and for the planning of early, specialized, individualized, and continuous support.