Article

A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment.

Department of Psychiatry and Behavioral Sciences, Emory Autism Center, Emory University School of Medicine, Atlanta, GA 30322, USA.
Current Psychiatry Reports (impact factor: 2.71). 05/2007; 9(2):148-58. pp.148-58
Source: PubMed

ABSTRACT 22q11 deletion syndrome (22q11DS) is a chromosomal disorder that results in variable multisystem abnormalities, including conotruncal cardiac malformations, aplasia or hypoplasia of the thymus and/or parathyroid glands, immunodeficiency, dysmorphic facial features, and cleft palate and other nasopharyngeal and dental anomalies. Individuals with 22q11DS also exhibit cognitive and behavioral difficulties, including delayed motor and speech-language development, mental retardation, low academic achievement, impaired spatial reasoning, poor attentional and executive functioning, attention-deficit hyperactivity disorder, autism spectrum disorders, mood disorders, and/or schizophrenia spectrum disorders. Interventions should be designed based on the results of periodic developmental and neuropsychological assessments and psychiatric screening. Future research should focus on understanding deletion-related gene-environment interactions and their effects on developmental and behavioral outcomes, identifying neurodegenerative processes in 22q11DS, and developing preventive models of behavioral and psychopharmacologic treatment.

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Keywords

22q11 deletion syndrome
 
aplasia
 
autism spectrum disorders
 
behavioral difficulties
 
behavioral outcomes
 
cleft palate
 
dental anomalies
 
developmental
 
Future research
 
immunodeficiency
 
low academic achievement
 
neuropsychological assessments
 
parathyroid glands
 
periodic developmental
 
preventive models
 
psychopharmacologic treatment
 
spatial reasoning
 
speech-language development
 
understanding deletion-related gene-environment interactions
 
variable multisystem abnormalities