Neuropsychiatric disorders in the 22q11 deletion syndrome

Genet Med. Jan-Feb 2001;3(1):79-84. doi: 10.1097/00125817-200101000-00017.


Purpose: This study was undertaken with a view to establishing the occurrence of neuropsychiatric disorders in the 22q11 deletion syndrome.

Methods: Thirty-two children and young adults with genetically confirmed 22q11 deletion were given comprehensive neuropsychiatric assessments.

Results: Altogether, 56% had a neuropsychiatric disorder. Only 6% were of normal IQ and free of physchiatric disorder. Attention-deficit/hyperactivity disorder was diagnosed in 44% and 31% had an autism spectrum problem. In 16% criteria for both these diagnoses were met. Fifty-three percent had mental retardation, often with a test-profile suggesting a nonverbal learning disorder.

Conclusion: The findings imply that a majority of children and adolescents with 22q11 deletion syndrome are in need of neuropsychiatric assessment and intervention.

MeSH terms

  • Adolescent
  • Adult
  • Attention Deficit Disorder with Hyperactivity / genetics*
  • Autistic Disorder / genetics
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Mental Disorders / genetics*
  • Neuropsychological Tests