Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability.

[kabuki syndrome]

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 .