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Developmental trajectories in 22q11.2 deletion.

Ann Swillen, Donna McDonald-McGinn

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

|May 20, 2015

Summary

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a common neurogenetic condition with variable symptoms. This review details its cognitive and psychiatric developmental transitions from childhood to adulthood.

Keywords:

22q11.2 deletion Di George chromosome 22 developmental trajectories

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Area of Science:

Genetics
Neurodevelopmental Disorders
Pediatrics

Background:

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome, affecting approximately 1 in 2,000-4,000 live births.
It results from haploinsufficiency of around 50 genes, leading to a multisystem disorder with highly variable phenotypic expression.
Common medical issues include congenital heart disease, palatal abnormalities, immunodeficiency, hypocalcemia, genitourinary anomalies, gastrointestinal problems, and subtle dysmorphic features.

Purpose of the Study:

To review the developmental transitions in cognitive and behavioral phenotypes of 22q11.2DS from early childhood to adulthood.
To highlight the changing neurocognitive profile and increased risk of psychiatric disorders across different age groups.
To provide a comprehensive overview on a background of complex medical conditions associated with 22q11.2DS.

Main Methods:

This is a review article, synthesizing existing literature on 22q11.2DS.
Focus is on developmental trajectories of cognitive and psychiatric manifestations.
Analysis considers data from infancy through adulthood.

Main Results:

Motor delays, hypotonia, and speech/language deficits are common from infancy.
Learning difficulties are prevalent in preschool and school-aged children, with borderline intellectual functioning or mild-to-moderate intellectual disability in most.
Individuals with 22q11.2DS face an elevated risk for ADHD, ASD, anxiety, mood disorders, and psychosis, including schizophrenia, with evolving psychiatric phenotypes across the lifespan.

Conclusions:

22q11.2DS presents a complex and evolving neurodevelopmental and psychiatric profile throughout an individual's life.
Understanding these developmental transitions is crucial for timely diagnosis and management of associated medical and behavioral challenges.
Longitudinal monitoring and tailored interventions are essential for optimizing outcomes in individuals with 22q11.2DS.