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Related Experiment Videos

Developmental outcome in Kabuki syndrome.

Keith K Vaux1, Kenneth L Jones, Marilyn C Jones

  • 1Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

American Journal of Medical Genetics. Part A
|November 4, 2004
PubMed
Summary

Kabuki syndrome (KS) patients show variable developmental outcomes, with intelligence ranging from normal to severe intellectual disability. Malformations and hearing loss do not predict developmental prognosis in KS.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Kabuki syndrome (KS) is associated with numerous congenital anomalies.
  • Limited data exists on the developmental outcomes for individuals with KS.
  • Recent observations suggest a proportion of KS patients may have normal intelligence.

Purpose of the Study:

  • To describe developmental outcomes in 15 patients with Kabuki syndrome.
  • To identify any recognizable patterns of disability in KS.
  • To correlate developmental outcomes with the presence of specific malformations.

Main Methods:

  • Retrospective review of 15 Kabuki syndrome patients from clinical genetics services.
  • Analysis of available developmental milestones and formal developmental testing.

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  • Literature review to supplement patient data.

    • Main Results:

    • In the absence of major brain anomalies, average IQ falls in the mild intellectual disability range.
    • Developmental outcomes are highly variable, from severe intellectual disability to normal intelligence.
    • Absence of hearing loss or non-brain malformations did not predict developmental outcome.

    Conclusions:

    • Kabuki syndrome presents a wide spectrum of developmental outcomes.
    • Developmental prognosis in KS is not reliably predicted by the presence of malformations or hearing loss, excluding major brain anomalies.
    • Further research is needed to understand the factors influencing developmental trajectories in KS.