Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome

Kerri L. Tang, Kevin M. Antshel, Wanda P. Fremont, Wendy R. Kates

Research output: Contribution to journalArticle

Abstract

ABSTRACT:: 22q11.2 Deletion syndrome (22q11.2DS) is a chromosomal microdeletion that affects approximately 40 to 50 genes and affects various organs and systems throughout the body. Detection is typically achieved by fluorescence in situ hybridization after diagnosis of one of the major features of the deletion or via chromosomal microarray or noninvasive prenatal testing. The physical phenotype can include congenital heart defects, palatal and pharyngeal anomalies, hypocalcemia/hypoparathyroidism, skeletal abnormalities, and cranial/brain anomalies, although prevalence rates of all these features are variable. Cognitive function is impaired to some degree in most individuals, with prevalence rates of greater than 90% for motor/speech delays and learning disabilities. Attention, executive function, working memory, visual-spatial abilities, motor skills, and social cognition/social skills are affected. The deletion is also associated with an increased risk for behavioral disorders and psychiatric illness. The early onset of psychiatric symptoms common to 22q11.2DS disrupts the development and quality of life of individuals with the syndrome and is also a potential risk factor for later development of a psychotic disorder. This review discusses prevalence, phenotypic features, and management of psychiatric disorders commonly diagnosed in children and adolescents with 22q11.2DS, including autism spectrum disorders, attention deficit/hyperactivity disorder, anxiety disorders, mood disorders, and schizophrenia/psychotic disorders. Guidelines for the clinical assessment and management of psychiatric disorders in youth with this syndrome are provided, as are treatment guidelines for the use of psychiatric medications.

Original languageEnglish (US)
JournalJournal of Developmental and Behavioral Pediatrics
DOIs
StateAccepted/In press - Sep 11 2015
Externally publishedYes

Fingerprint

DiGeorge Syndrome
Psychiatry
Phenotype
Psychotic Disorders
Cognition
Guidelines
Language Development Disorders
Hypoparathyroidism
Motor Skills
Hypocalcemia
Congenital Heart Defects
Learning Disorders
Executive Function
Attention Deficit Disorder with Hyperactivity
Anxiety Disorders
Fluorescence In Situ Hybridization
Mood Disorders
Short-Term Memory
Schizophrenia
Quality of Life

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental and Educational Psychology
  • Psychiatry and Mental health

Cite this

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome. / Tang, Kerri L.; Antshel, Kevin M.; Fremont, Wanda P.; Kates, Wendy R.

In: Journal of Developmental and Behavioral Pediatrics, 11.09.2015.

Research output: Contribution to journalArticle

Tang, Kerri L. ; Antshel, Kevin M. ; Fremont, Wanda P. ; Kates, Wendy R. / Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome. In: Journal of Developmental and Behavioral Pediatrics. 2015.
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