Association between prematurity and the evolution of psychotic disorders in 22q11.2 deletion syndrome

Yael Midbari Kufert1, Ariela Nachmani2,3, Einat Nativ4

  • 1The Child Psychiatry Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 5262000, Tel Hashomer, Israel.

Insights

This study on 22q11.2 deletion syndrome (22q11.2DS) found high rates of physical and psychiatric issues, including psychosis. Preterm birth was associated with an increased risk of psychotic disorders in individuals with 22q11.2DS.

Area of Science:

  • Genetics and Developmental Pediatrics
  • Psychiatry and Neurodevelopmental Disorders

Background:

  • 22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with diverse clinical manifestations.
  • Understanding the neurodevelopmental trajectory and risk factors for psychiatric disorders in 22q11.2DS is crucial.

Purpose of the Study:

  • To characterize the developmental, physical, and psychiatric features of 22q11.2DS in a large Israeli cohort.
  • To investigate the association between preterm birth and the risk of developing psychotic disorders in 22q11.2DS.

Main Methods:

  • A cohort of 128 individuals with 22q11.2DS underwent comprehensive medical evaluations.
  • Psychiatric evaluations were conducted on 104 subjects aged 5 years and older.
  • Statistical analysis was performed to identify associations between clinical factors and psychiatric outcomes.

Main Results:

  • Physical manifestations were consistent with previous literature.
  • Psychiatric disorders were prevalent, with 16.3% of evaluated individuals experiencing psychotic disorders.
  • A significant association was found between preterm birth and the occurrence of psychotic disorders.

Conclusions:

  • The findings confirm the high prevalence of psychiatric disorders in 22q11.2DS.
  • Preterm birth may serve as an early indicator for psychosis risk in 22q11.2DS.
  • Psychosis in 22q11.2DS appears to be a neurodevelopmental process influenced by early obstetric factors.

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