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22q11 deletion: a multisystem disorder requiring multidisciplinary input.

K L Greenhalgh1, I A Aligianis, G Bromilow

  • 1Department of Clinical Genetics, Level B, St Michael's Hospital, Southwell Street, Bristol BS2 8EG, UK. Lynn.Greenhalgh@ubht.swest.nhs.uk

Archives of Disease in Childhood
|May 27, 2003
PubMed
Summary

Recommendations for investigating 22q11 microdeletion in children are provided. This genetic disorder requires core investigations like echocardiograms and renal ultrasound scans for effective management.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • 22q11 microdeletion is a significant genetic disorder affecting multiple systems in children.
  • Effective management necessitates clear guidelines for diagnosis and ongoing care.
  • Previous diagnostic and management strategies may vary, impacting patient outcomes.

Purpose of the Study:

  • To establish evidence-based recommendations for the investigation and management of 22q11 microdeletion in pediatric patients.
  • To identify optimal diagnostic procedures and essential investigations for children diagnosed with this condition.
  • To ensure consistent and comprehensive care for individuals with 22q11 microdeletion across different age groups.

Main Methods:

  • Retrospective review of case notes from cytogenetic laboratories in South and West Britain.

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  • Analysis of 210 cases of chromosome 22q11 microdeletion identified over a four-year period.
  • Comparison of investigation rates and diagnostic yields across different pediatric age groups (infants, school-age, and older).

    • Main Results:

    • A total of 210 cases were identified, with diagnosis occurring across all age ranges.
    • School-aged children were investigated less frequently than infants for key indicators like echocardiography, serum calcium, renal ultrasound, lymphocyte count, and parental karyotype.
    • Despite lower investigation rates in older children, significant findings such as hypocalcemia (42%) and abnormal renal ultrasound results (25%) were still prevalent.

    Conclusions:

    • 22q11 microdeletion is a complex, multisystem disorder requiring a standardized set of core investigations at the time of diagnosis.
    • Recommended minimum investigations include echocardiogram, renal ultrasound, lymphocyte count and function assessment, serum calcium levels, and parental karyotyping.
    • Genetic counseling and community pediatric support are crucial for optimizing care and support for affected families.