title: Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability.
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.
authors.affiliation: Department of Neuropsychology, Kennedy Krieger Institute, 1750 East Fairmount Ave., Baltimore, MD 21231, USA.
authors.forename: Jacqueline H
authors.initials: JH
authors.lastname: Sanz
authors.forename: Paul
authors.initials: P
authors.lastname: Lipkin
authors.forename: Kenneth
authors.initials: K
authors.lastname: Rosenbaum
authors.forename: E Mark
authors.initials: EM
authors.lastname: Mahone
mesh_terms: D000015:Abnormalities, Multiple / Q000523:psychology; D000223:Adaptation, Psychological; D000367:Age Factors; D002648:Child; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000209:etiology*; D056344:Executive Function / Q000502:physiology; D005145:Face / Q000002:abnormalities; D005260:Female; D006402:Hematologic Diseases / Q000150:complications / Q000523:psychology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology*; D007361:Intelligence Tests; D007802:Language; D008137:Longitudinal Studies; D008297:Male; D019964:Mood Disorders / Q000175:diagnosis / Q000209:etiology; D009483:Neuropsychological Tests; D011597:Psychomotor Performance / Q000502:physiology; D014706:Verbal Learning / Q000502:physiology; D015837:Vestibular Diseases / Q000150:complications / Q000523:psychology; D014796:Visual Perception / Q000502:physiology