22q11.2 Deletion Syndrome: Cognitive, Visuomotor, and Adaptive Functioning Followed Longitudinally

Area of Science:

• Neuroscience
• Genetics
• Psychology

Background:

• Limited longitudinal data exists on cognitive, visuomotor, and adaptive functions in adults with 22q11.2 deletion syndrome (22q11.2DS).
• Understanding long-term outcomes is crucial for this population.

Purpose of the Study:

• To longitudinally assess cognitive, visuomotor, and adaptive functioning in adults with 22q11.2DS.
• To examine the relationship between these functions and long-term outcomes.

Main Methods:

• A cohort of 79 adults with 22q11.2DS (aged 18-50 at follow-up) were assessed twice over a median of 15 years.
• Clinical, neuropsychological, and adaptive functioning assessments were conducted.

Main Results:

• Group-level Full-Scale Intelligence Quotient (FSIQ) was stable, but females showed declines in FSIQ and visuomotor integration.
• An increasing proportion of participants exhibited an uneven IQ profile (higher Verbal Function Index than Perceptual Function Index).
• Severe to moderate adaptive impairments were noted, with baseline FSIQ predicting later adaptive functioning.

Conclusions:

• Individual cognitive declines were observed despite group-level stability.
• Long-term follow-up is vital for personalized interventions.
• Declines in FSIQ and Verbal Intelligence Quotient (VIQ) in the psychosis subgroup may indicate or result from psychosis.