Early language measures associated with later psychosis features in 22q11.2 deletion syndrome

Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):392-400. doi: 10.1002/ajmg.b.32812. Epub 2020 Jul 27.

Abstract

The 22q11.2 deletion syndrome (22q11DS) is associated with impaired cognitive functions and increased risk for schizophrenia spectrum disorders. Speech and language deficits are prominent, with evidence of decline anteceding emergence of psychosis. There is paucity of data examining language function in children with 22q11DS with follow-up assessment of psychosis spectrum (PS) symptoms. We examined the association between early language measures, obtained clinically, and PS status, obtained on average 10.1 years later, in 166 youths with 22q11DS, with repeated language testing in 48. Participants were administered the Preschool Language Scale (receptive/expressive), and/or, for school aged children, the Clinical Evaluation of Language Fundamentals (receptive/expressive), and age appropriate IQ tests. The structured interview for prodromal syndromes (SIPS) assessed PS symptoms. We found that performance on all preschool measures showed age associated decline, and males performed more poorly on core composite (receptive/expressive) and receptive language measures. For language assessment later in childhood, poorer performance was consistently associated with subsequent PS status. Furthermore, steeper age-related decline was seen in the PS group across language measures and marginally for full-scale IQ. These findings suggest that while preschool language testing is useful in characterizing performance decline in individuals with 22q11DS, it does not robustly differentiate those with subsequent PS from those without. However, language testing in the school age population can help identify individuals with 22q11DS who are at risk for psychosis. Such data are needed for elucidating a lifespan trajectory for affected individuals and may help understand pathways to psychosis applicable to the general population.

Keywords: 22q11.2 deletion syndrome; cognitive development; language; psychosis spectrum.

Publication types

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

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Cognition
  • DiGeorge Syndrome / genetics
  • DiGeorge Syndrome / physiopathology*
  • Female
  • Humans
  • Intelligence Tests
  • Language
  • Male
  • Prodromal Symptoms
  • Psychotic Disorders / genetics*
  • Schizophrenia / complications
  • Speech / physiology
  • Verbal Behavior / physiology*