Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion

Citation
M. Woodin et al., Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion, GENET MED, 3(1), 2001, pp. 34-39
Citations number
52
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETICS IN MEDICINE
ISSN journal
10983600 → ACNP
Volume
3
Issue
1
Year of publication
2001
Pages
34 - 39
Database
ISI
SICI code
1098-3600(200101/02)3:1<34:NPOCAA>2.0.ZU;2-R
Abstract
Purpose: Patients with one of the 22q11.2 deletion syndromes provide a uniq ue opportunity to research the interface between genetics and brain-behavio r relationships. This study investigates the neuropsychological characteris tics and behavioral phenotype of children with this deletion syndrome. Meth ods: We report updated findings from descriptive and nonparametric analyses of neuropsychological data from 80 children with the 22q11.2 deletion. Res ults: The subjects showed higher verbal than nonverbal IQ scores, assets in verbal memory, and deficits in the areas of attention, story memory, visuo spatial memory, arithmetic performance relative to other areas of achieveme nt, and psychosocial functioning. Conclusion: Children with 22q11.2 deletio n syndromes exhibit a behavioral phenotype reflective of nonverbal learning disabilities, concomitant language deficits, and social-emotional concerns .