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Neurodevelopmental outcome in 22q11.2 deletion syndrome and management

Ann Swillen1, Edward Moss2, Sasja Duijff3

  • 1Department of Human Genetics, KU Leuven, Leuven, Belgium.

American Journal of Medical Genetics. Part A
|April 27, 2018
PubMed

Insights

22q11.2 deletion syndrome (22q11.2 DS) increases risk for neurodevelopmental and behavioral issues. Early identification of risk and protective factors is crucial for timely intervention and improved outcomes in affected individuals.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Psychology

Background:

  • 22q11.2 deletion syndrome (22q11.2 DS) is associated with significant neurodevelopmental challenges.
  • Individuals with 22q11.2 DS often experience cognitive deficits, behavioral problems, and social-emotional difficulties.

Purpose of the Study:

  • To review factors influencing neurodevelopmental outcomes in 22q11.2 DS.
  • To discuss the cognitive phenotype and developmental trajectories in 22q11.2 DS.
  • To highlight implications for clinical practice and management.

Main Methods:

  • This is a review article, synthesizing existing research.
  • Focuses on identifying early risk and protective factors.
  • Examines cognitive and behavioral phenotypes across the lifespan.

Main Results:

  • Common issues include intellectual disability, attention deficits, and social processing impairments.
  • Early life factors can predict neurodevelopmental outcomes.
  • Understanding developmental trajectories is key for intervention.

Conclusions:

  • Early detection of risk and resilience factors in 22q11.2 DS is clinically vital.
  • Tailored interventions based on individual trajectories can improve outcomes.
  • Further research is needed to refine clinical management strategies.

Keywords:
22q11.2 DScontributing factorsneurodevelopmental outcomepractice and management

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