A Review of Neurocognitive and Behavioral Profiles Associated With 22q11 Deletion Syndrome: Implications for Clinical Evaluation and Treatment

Curr Psychiatry Rep. 2007 Apr;9(2):148-58. doi: 10.1007/s11920-007-0085-8.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / psychology
  • Abnormalities, Multiple / therapy
  • Adolescent
  • Adult
  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics*
  • Autistic Disorder / psychology
  • Autistic Disorder / therapy
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Cooperative Behavior
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Developmental Disabilities / psychology
  • Developmental Disabilities / therapy
  • Early Intervention, Educational
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / psychology
  • Intellectual Disability / therapy
  • Language Development Disorders / diagnosis
  • Language Development Disorders / genetics*
  • Language Development Disorders / psychology
  • Language Development Disorders / therapy
  • Mental Disorders / diagnosis
  • Mental Disorders / genetics*
  • Mental Disorders / psychology
  • Mental Disorders / therapy
  • Neuropsychological Tests
  • Patient Care Team
  • Personality Assessment
  • Social Environment
  • Syndrome