Communication in people with 22q11 deletion syndrome: Voice and speech: voz y habla

Background and objectives: Currently there are few studies that define the psycholinguistic profile of people with 22q11 deletion syndrome (S22q11) with Spanish and/or Catalan as their mother tongue. The aim of this study was to define the characteristics of the voice and speech of people with S22q11. Method: A study was performed with a sample of 30 subjects aged between 5 and 21 years (12.14 ± 4.20) with S22q11. Ad hoc questionnaires were administered to parents, and participants’ voice, execution of oral praxis, hearing discrimination, and speech were assessed. Results: More than half of the participants had a sharper voice than expected by sex and age, and half showed signs of hypophonia, although the maximum intensity results showed that they could use more intensity. In terms of speech, the younger participants had a delay in the acquisition of phonemes (except nasal consonants) compared to their normative group, and most made use of the compensatory sound ʔ. Participants older than 8 years correctly produced late-acquisition phonemes, although specific articulation difficulties persisted. Conclusions: Participants showed specific voice and speech characteristics.