European Child & Adolescent Psychiatry

, Volume 9, Issue 2, pp 109–114

Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes

  • S. Eliez
  • F. Palacio-Espasa
  • A. Spira
  • M. Lacroix
  • C. Pont
  • F. Luthi
  • C. Robert-Tissot
  • C. Feinstein
  • D. F. Schorderet
  • S. E. Antonarakis
  • B. Cramer
ORIGINAL CONTRIBUTION

DOI: 10.1007/s007870050005

Cite this article as:
Eliez, S., Palacio-Espasa, F., Spira, A. et al. European Child & Adolescent Psychiatry (2000) 9: 109. doi:10.1007/s007870050005

Abstract

This is the first clinical description of a detailed psychological, speech, and language phenotype of four young children (<5 years) with Velo-Cardio-Facial syndrome (VCFS) due to a deletion on chromosome 22 (22q11.2). The reported elevated risk of developing schizophrenia or bipolar disorder in adolescence for individuals with this chromosomal deletion led us to examine the psychiatric and cognitive status of young children with VCFS.

Our observations suggest a phenotype comprised of a borderline to mildly retarded level of intellectual functioning, a language delay, a general deficit in social initiation, difficulties with attention/concentration, and a perturbed train of thought.

Key words Velo-Cardio-Facial syndromeVCF22q11 deletionneurobehavioral phenotype

Copyright information

© Steinkopff Verlag 2000

Authors and Affiliations

  • S. Eliez
    • 1
  • F. Palacio-Espasa
    • 2
  • A. Spira
    • 2
  • M. Lacroix
    • 2
  • C. Pont
    • 2
  • F. Luthi
    • 2
  • C. Robert-Tissot
    • 2
  • C. Feinstein
    • 1
  • D. F. Schorderet
    • 3
  • S. E. Antonarakis
    • 4
  • B. Cramer
    • 2
  1. 1.Division of Child Psychiatry Stanford School of Medicine 401 Quarry Road, Stanford CA 94305, USA e-mail: eliez@stanford.eduUS
  2. 2.Division of Child Psychiatry Geneva University Medical School 41 ch. des Crêts-de-Champel CH-1206 Geneva, SwitzerlandCH
  3. 3.Division of Medical Genetics Lausanne University Medical School and CHUV les falaises 1 CH-1011 Lausanne, SwitzerlandCH
  4. 4.Division of Medical Genetic Geneva University Medical School and Hospital, 1 Rue Michel-Servet CH-1211 Geneva 4, SwitzerlandCH