European Journal of Pediatrics

, Volume 169, Issue 8, pp 983–989 | Cite as

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

  • Kari Lima
  • Ivar Følling
  • Kristin L. Eiklid
  • Solveig Natvig
  • Tore G. Abrahamsen
Original Paper
First Online:
Received:
Accepted:

Abstract

Patients with the 22q11.2 deletion syndrome display a wide phenotypic variation that is important for clinical follow-up. In this national survey of 60 patients (ages 1 to 54 years) diagnosed by Fluorescence in situ hybridization test, data were collected from medical records, a physical examination, and a semistructured interview. Ultrasound investigation of the kidneys was also performed. In addition, multiplex ligation probe amplification assay was performed to detect deletion size. Phenotypic features leading to the genetic diagnosis were noted. The patients showed a variety of organ malformations including 39 with heart anomalies. Only 20 individuals had been diagnosed with 22q11.2 DS in the first year of life. Four patients had renal and five males had genital malformations. The increased infection susceptibility (excluding otitis media) and most feeding difficulties subsided during early childhood. Speech difficulties started early and were a major problem for many patients at least until 10 years of age. Ten patients developed kyphoscoliosis in late childhood. In teenagers and adults, abnormal social behavior, learning disabilities, and psychiatric symptoms dominated. Our study which also includes adult patients emphasizes a marked change in challenges in individuals with the 22q11.2 deletion syndrome with increasing age.

Keywords

22q11.2 deletion syndrome DiGeorge syndrome Velocardiofacial syndrome Congenital cardiac anomalies 

Abbreviations

ADHD

Attention-deficit hyperactivity disorder

22q11.2 DS

22q11.2 deletion syndrome

CTCA

Conotruncal cardiac anomaly

FISH test

Fluorescence in situ hybridization test

MLPA

Multiplex ligation probe amplification

PEG

Percutaneous endoscopic gastrostomy

VPI

Velopharyngeal insufficiency

VSD

Ventricular septum defect

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Notes

Acknowledgements

We would like to thank all the patients for participating in this study. We also thank Ingunn Holm for performing the MLPA analyses of our samples, Anne-Mette Aamodt for administrative help, and Ingegerd Aagenaes for performing some of the ultrasound investigations. The work has been financed by Akershus University Hospital, The South-Eastern Norway Regional Health Authority, and The Faculty Division Akershus University Hospital, University of Oslo.

Conflict of interest

The authors have no conflict of interest to disclose or financial relationship with the organization that sponsored the research.

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Kari Lima
    • 1
    • 2
    • 3
  • Ivar Følling
    • 2
  • Kristin L. Eiklid
    • 4
  • Solveig Natvig
    • 5
  • Tore G. Abrahamsen
    • 3
    • 6
  1. 1.Department of Endocrinology, Division of MedicineAkershus University HospitalLørenskogNorway
  2. 2.Faculty Division Akershus University HospitalUniversity of OsloLørenskogNorway
  3. 3.Department of PaediatricsOslo University HospitalOsloNorway
  4. 4.Department of Medical GeneticsOslo University HospitalOsloNorway
  5. 5.Department of RadiologyOslo University HospitalOsloNorway
  6. 6.Faculty of MedicineUniversity of OsloOsloNorway

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