Speech Therapy Summary

Most individuals with Kabuki syndrome experience delay in speech and language acquisition, exacerbated by craniofacial anomalies, hypotonia, and poor coordination.
Articulation errors are common and are likely due to oral-motor hypotonia and general poor coordination. It is not felt that structural abnormalities such as velopharyngealiRutherford insufficiency, dental malocclusioni and cleft palatei are major contributors. Also common is abnormal oral resonance, again likely due to oral-motor hypotonia and not structural abnormalities. Resonance is the quality of the voice as the result of sound vibrations in the pharnyx (throat), oral cavity (mouth) and nasali cavity (nose). Abnormal  prosody, defined as the rhythm, stress and intonation of speech, is evident in many children. One study showed that the prosody and articulation errors became more pronounced when spontaneous speech increased in length and complexity. It also found that pitch, loudness and prosody did not mature significantly over time, despite ongoing speech services, resulting in inappropriate and difficult to understand speech production by adolescence. More long term follow-up studies of the distinctive speech patterns of Kabuki Syndrome are needed. This will hopefully lead to better tailoring of speech-language therapies, specific for Kabuki.

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