Developmental Profile and Trajectory of Neuropsychological Skills in A Child With Kabuki Syndrome: Implications for Assessment of Syndromes Associated with Intellectual Disability

Autor: Paul H. Lipkin, Jacqueline H. Sanz, E. Mark Mahone, Kenneth N. Rosenbaum
Rok vydání: 2010
Předmět:
Male
medicine.medical_specialty
Developmental Disabilities
Neuropsychological Tests
Executive Function
Arts and Humanities (miscellaneous)
Intellectual Disability
Adaptation
Psychological

Intellectual disability
Developmental and Educational Psychology
medicine
Humans
Abnormalities
Multiple

Longitudinal Studies
Neuropsychological assessment
Child
Psychiatry
Language
Intelligence Tests
medicine.diagnostic_test
Intelligence quotient
Mood Disorders
Age Factors
Neuropsychology
Neuropsychological test
Verbal Learning
medicine.disease
Hematologic Diseases
Developmental disorder
Psychiatry and Mental health
Clinical Psychology
Neuropsychology and Physiological Psychology
Vestibular Diseases
Face
Visual Perception
Female
Cognition Disorders
Psychology
Kabuki syndrome
Psychomotor Performance
Executive dysfunction
Zdroj: The Clinical Neuropsychologist. 24:1181-1192
ISSN: 1744-4144
1385-4046
Popis: 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.
Databáze: OpenAIRE