Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome

J Dev Orig Health Dis. 2016 Dec;7(6):616-625. doi: 10.1017/S2040174416000428.


Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex developmental disorder with serious medical, cognitive and emotional symptoms across the lifespan. This genetic deletion also imparts a lifetime risk for developing schizophrenia that is 25-30 times that of the general population. The origin of this risk is multifactorial and may include dysregulation of the stress response and immunological systems in relation to brain development. Vitamin D is involved in brain development and neuroprotection, gene transcription, immunological regulation and influences neuronal signal transduction. Low levels of vitamin D are associated with schizophrenia, depression and anxiety in the general population. Yet, little is known about how vitamin D levels in children with 22q11.2DS could mediate risk of psychosis in adulthood. Blood plasma levels of vitamin D were measured in children aged 7-16 years with (n=11) and without (n=16) 22q11.2DS in relation to parent reports of children's anxiety and atypicality. Anxiety and atypicality in childhood are risk indicators for the development of schizophrenia in those with 22q11.2DS and the general population. Children with 22q11.2DS had lower vitamin D levels, as well as elevated anxiety and atypicality compared with typical peers. Higher levels of anxiety, depression and internalizing problems but not atypicality were associated with lower levels of vitamin D. Vitamin D insufficiency may relate to higher levels of anxiety and depression, in turn contributing to the elevated risk of psychosis in this population. Further study is required to determine casual linkages between anxiety, stress, mood and vitamin D in children with 22q11.2DS.

Keywords: DiGeorge syndrome; developmental disorder; genetic deletion; schizophrenia risk; velocardiofacial syndrome.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Anxiety Disorders / etiology*
  • Anxiety Disorders / psychology
  • Child
  • Depressive Disorder / etiology*
  • Depressive Disorder / psychology
  • DiGeorge Syndrome / physiopathology*
  • Female
  • Humans
  • Male
  • Problem Behavior / psychology*
  • Vitamin D / blood
  • Vitamin D Deficiency / complications*


  • Vitamin D