A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment.
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.
Ousley
Opal
O
Department of Psychiatry and Behavioral Sciences, Emory Autism Center, Emory University School of Medicine, Atlanta, GA 30322, USA. oousley@emory.edu
Rockers
Kimberly
K
Dell
Mary Lynn
ML
Coleman
Karlene
K
Cubells
Joseph F
JF
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003299:Cooperative Behavior; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000523:psychology / Q000628:therapy; D018479:Early Intervention, Educational; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D001523:Mental Disorders / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D009483:Neuropsychological Tests; D010348:Patient Care Team; D010552:Personality Assessment; D012931:Social Environment; D013577:Syndrome