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Speech characteristics in the Kabuki syndrome.

Sheila Upton1, Carmella S Stadter, Pat Landis

  • 1Division of Pediatric Genetics, University of Maryland, School of Medicine, Baltimore, Maryland 21201, USA. ewulfberg@peds.umaryland.edu

American Journal of Medical Genetics. Part A
|January 11, 2003
PubMed
Summary
This summary is machine-generated.

Children with Kabuki syndrome exhibit persistent speech issues, including articulation errors and abnormal pitch/loudness that don't mature with age. These findings highlight challenges for speech therapy and Kabuki syndrome management.

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Area of Science:

  • Genetics
  • Speech-Language Pathology
  • Pediatric Medicine

Background:

  • Kabuki syndrome is a rare genetic disorder with diverse clinical manifestations.
  • Speech and language impairments are common in individuals with Kabuki syndrome.
  • Understanding specific speech patterns is crucial for targeted interventions.

Purpose of the Study:

  • To investigate the detailed speech characteristics in children with Kabuki syndrome.
  • To analyze the maturation of speech parameters (articulation, pitch, loudness, prosody) over time.
  • To identify challenges for speech-language pathology services in managing these individuals.

Main Methods:

  • A cohort of six children with Kabuki syndrome was studied.
  • Speech was assessed for articulation, intelligibility, pitch, loudness, and prosody.
  • Longitudinal evaluation of two participants from childhood to adolescence was performed.

Main Results:

  • All participants exhibited articulation errors and abnormal oral resonance, attributed to hypotonia and poor oral-motor coordination.
  • Speech and language acquisition were delayed in all six children.
  • Pitch, loudness, and prosody failed to mature appropriately into adolescence in the two longitudinally studied individuals, despite articulation improvements.

Conclusions:

  • Kabuki syndrome is associated with distinctive speech characteristics, including a lack of maturation in pitch and loudness.
  • These persistent speech differences present challenges for social integration and require tailored therapeutic approaches.
  • Identifying these specific speech patterns aids in expanding the clinical understanding of Kabuki syndrome and refining treatment strategies.