Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.

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TitleNeurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.
Publication TypeJournal Article
Year of Publication2014
AuthorsGur, RE, Yi, JJ, McDonald-McGinn, DM, Tang, SX, Calkins, ME, Whinna, D, Souders, MC, Savitt, A, Zackai, EH, Moberg, PJ, Emanuel, BS, Gur, RC
JournalMol Psychiatry
Volume19
Issue11
Pagination1205-11
Date Published2014 Nov
ISSN1476-5578
KeywordsAdolescent, Child, Child Development, Cognition, Comorbidity, Cross-Sectional Studies, Developmental Disabilities, DiGeorge Syndrome, Executive Function, Face, Female, Humans, Male, Memory, Episodic, Neuropsychological Tests, Pattern Recognition, Visual, Psychomotor Performance, Social Perception, Young Adult
Abstract

The 22q11.2 deletion syndrome (22q11DS) presents with medical and neuropsychiatric manifestations including neurocognitive deficits. Quantitative neurobehavioral measures linked to brain circuitry can help elucidate genetic mechanisms contributing to deficits. To establish the neurocognitive profile and neurocognitive 'growth charts', we compared cross-sectionally 137 individuals with 22q11DS ages 8-21 to 439 demographically matched non-deleted individuals with developmental delay (DD) and medical comorbidities and 443 typically developing (TD) participants. We administered a computerized neurocognitive battery that measures performance accuracy and speed in executive, episodic memory, complex cognition, social cognition and sensorimotor domains. The accuracy performance profile of 22q11DS showed greater impairment than DD, who were impaired relative to TD. Deficits in 22q11DS were most pronounced for face memory and social cognition, followed by complex cognition. Performance speed was similar for 22q11DS and DD, but 22q11DS individuals were differentially slower in face memory and emotion identification. The growth chart, comparing neurocognitive age based on performance relative to chronological age, indicated that 22q11DS participants lagged behind both groups from the earliest age assessed. The lag ranged from less than 1 year to over 3 years depending on chronological age and neurocognitive domain. The greatest developmental lag across the age range was for social cognition and complex cognition, with the smallest for episodic memory and sensorimotor speed, where lags were similar to DD. The results suggest that 22q11.2 microdeletion confers specific vulnerability that may underlie brain circuitry associated with deficits in several neuropsychiatric disorders, and therefore help identify potential targets and developmental epochs optimal for intervention.

DOI10.1038/mp.2013.189
Alternate JournalMol. Psychiatry
PubMed ID24445907
PubMed Central IDPMC4450860
Grant ListT32 MH019112 / MH / NIMH NIH HHS / United States
U01 MH087626 / MH / NIMH NIH HHS / United States
MH089924 / MH / NIMH NIH HHS / United States
K08 MH079364 / MH / NIMH NIH HHS / United States
RC2 MH089924 / MH / NIMH NIH HHS / United States
MH087626 / MH / NIMH NIH HHS / United States
K08 MH 079364 / MH / NIMH NIH HHS / United States
MH089983 / MH / NIMH NIH HHS / United States
MH087636 / MH / NIMH NIH HHS / United States
U01 MH087636 / MH / NIMH NIH HHS / United States
RC2 MH089983 / MH / NIMH NIH HHS / United States
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