Objective: Recognition of the phenotypic spectrum and prognosis of a genetic disorder is critical to proper patient care. A 7-year-old boy with Sphrintzen-Goldberg syndrome (SGS) was studied to investigate speech, language and voice patterns associated with this syndrome.
Methods: The child's language (expressive and receptive) and speech was characterized with regard to overall intelligibility, articulation (phonetic and phonological errors), voice (flexible videolaryngostroboscopy, quality, pitch and loudness) and resonance (type of disorders).
Results: Based on this detailed study the most striking communication characteristics in this child with SGS appear to be a delayed speech and language onset, an expressive and receptive language disorder, a moderately impaired speech intelligbility, relatively good phonetic but poorer phonological abilities, an oral hypotonia, a high-pitched soft voice and a slight hypernasality.
Conclusions: The explanation for this communication disorder is not completely straightforward. It is not clear either to what extent the present case can be considered as typical for SGS. Only more data will allow to determine whether or not SGS is associated with a typical syndrome specific pattern of communication disorders. Not only detailed speech and language analyses of additional cases of SGS are necessary, but also studies that compare the speech and language of individuals with SGS with that of individuals with other genetic syndrome.