Childhood cognitive development in 22q11.2 deletion syndrome: case-control study

Area of Science:

• Neuroscience
• Genetics
• Developmental Psychology

Background:

• 22q11.2 deletion syndrome (22q11.2DS) is linked to increased risk of psychiatric disorders, including schizophrenia.
• Previous studies suggested childhood cognitive decline in 22q11.2DS, but lacked control groups.
• Understanding cognitive trajectories is crucial for managing 22q11.2DS.

Purpose of the Study:

• To compare cognitive trajectories between children with 22q11.2DS and their unaffected siblings.
• To investigate potential cognitive deterioration in children with 22q11.2DS over time.
• To determine if cognitive changes are specific to 22q11.2DS.

Main Methods:

• Longitudinal neurocognitive assessment (IQ, executive function, processing speed, attention).
• Study included 75 children with 22q11.2DS and 33 control siblings.
• Participants were assessed over a mean age range from approximately 10 to 13 years.

Main Results:

• Children with 22q11.2DS showed deficits across cognitive domains.
• Average cognitive scores did not reveal deterioration over time.
• Individual cognitive fluctuations were observed, but at similar rates in both 22q11.2DS and control groups.

Conclusions:

• Childhood cognitive deterioration is not a characteristic of 22q11.2DS.
• Observed cognitive changes likely represent normal developmental variations.
• Recommending cognitive monitoring for early schizophrenia risk identification in 22q11.2DS is premature.