Developmental profile and trajectory of neuropsychological skills in a child with kabuki syndrome: Implications for assessment of syndromes associated with intellectual disability

Jacqueline H. Sanz, Paul Lipkin, Kenneth Rosenbaum, E. Mark Mahone

Research output: Contribution to journalArticle

Abstract

Kabuki syndrome (KS) is a rare genetic syndrome involving dysmorphic facial features, and reports of intellectual disability (ID). We examined the developmental trajectory of neuropsychological skills in a child with KS (seen at ages 4, 6, 7, 9, and 11). Examination of raw and age-corrected standard scores suggests that language-based skills developed appropriately, but visually based skills slowed and reached a plateau. Executive dysfunction and mood symptoms were also observed. While ID is described as a core feature of KS, some patients may not meet diagnostic criteria for ID, and may be better described as having specific deficits in nonverbal skills. Longitudinal neuropsychological assessment of children with KS and other syndromes associated with ID is warranted to understand the true prevalence of ID versus isolated cognitive impairments.

Original languageEnglish (US)
Pages (from-to)1181-1192
Number of pages12
JournalClinical Neuropsychologist
Volume24
Issue number7
DOIs
StatePublished - Oct 1 2010

Keywords

  • Cognition
  • Kabuki syndrome
  • Mental retardation
  • Neuropsychology
  • Niikawa-Kuroki syndrome

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Developmental and Educational Psychology
  • Clinical Psychology
  • Arts and Humanities (miscellaneous)
  • Psychiatry and Mental health

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