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Speech patterns in Kabuki make-up syndrome: a case report.

K M Van Lierde1, J Van Borsel, P Van Cauwenberge

  • 1Department of Otorhinolaryngology, Audiology and Speech Pathology, University of Ghent, Belgium. kristiane.vanlierde@rug.ac.be

Journal of Communication Disorders
|January 5, 2001
PubMed
Summary

This case study reports on a young girl with Kabuki make-up syndrome, highlighting her specific speech and language challenges. The findings focus on her morphosyntactic deficits and phonological processes, offering insights into communication disorders.

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Area of Science:

  • Genetics and Developmental Pediatrics
  • Speech-Language Pathology

Background:

  • Kabuki make-up syndrome is a rare genetic disorder associated with developmental delays and distinctive facial features.
  • Early identification and intervention are crucial for managing associated health and developmental issues.

Observation:

  • A 3-year-old girl with Kabuki make-up syndrome presented with normal cognitive function, history of otitis media, submucous cleft palate, and hypotonia.
  • Language assessment revealed normal receptive skills and expressive vocabulary, but significant deficits in morphosyntax.
  • Speech analysis indicated variability in sound production and inconsistent use of phonological processes.

Findings:

  • The patient exhibited specific challenges in morphosyntactic abilities, impacting grammatical structure and sentence formation.

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  • Phonological processes were inconsistently applied, leading to word simplification and reduced speech intelligibility.
  • Variability in sound production further contributed to communication difficulties.

    • Implications:

    • This case underscores the heterogeneity of speech and language impairments in Kabuki make-up syndrome.
    • Understanding these specific deficits is vital for tailoring targeted speech and language therapy interventions.
    • Further research is needed to elucidate the neurobiological underpinnings of communication disorders in this syndrome.