The speech and language profile of a child with Turner Syndrome– a case study

Abstract

Background: Turner syndrome is a genetic disorder that affects only females. It has specific cognitive characteristics, but speech and language data are scarce. Methods and procedures: Prospective case report; we report a girl aged seven’s cognitive and speech and language profile. Results: Cognitive assessment shows higher performance IQ (PIQ), and atypical cognitive profile for Turner syndrome. Speech and language assessment show a significant difference between receptive and expressive language levels. Although the girl did comprehend most of the language structure, there was a lack of it in spontaneous speech. She demonstrated inconsistency in the use of language morphology and complex linguistic structures, primarily because of significant inconsistency in her sound production. Although she produced the majority of phonemes correctly in isolation, her spontaneous speech production was incomprehensible. Conclusion: Case studies of speech and language development may reveal a specific characteristic in the cases with Turner syndrome to delineate genetic factors from individual developmental variabilities.