Cognitive and Daily Life Functioning in Adults with 22q11.2 Deletion Syndrome
Author Information
Author(s): Claudia Vingerhoets, Julia Ruiz-Fernandez, Emma von Scheibler, Elfi Vergaelen, Nele Volbragt, Nele Soons, Chaira Serrarens, Annick Vogels, Erik Boot, Therese van Amelsvoort, Ann Swillen
Primary Institution: Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands
Hypothesis
Adults with 22q11.2DS would function at a lower intellectual and adaptive level than previously described in children with 22q11.2DS.
Conclusion
Low levels of cognitive and adaptive functioning are common in adults with 22q11.2DS.
Supporting Evidence
- 65% of individuals demonstrated a low level of adaptive functioning.
- 56% functioned at an intellectual disability level.
- Male sex, lower FSIQ, and autism spectrum disorder were predictors of lower adaptive functioning.
Takeaway
This study found that many adults with a specific genetic condition called 22q11.2 deletion syndrome have trouble with thinking and daily activities.
Methodology
This was a retrospective study that included data from clinical files of 250 adults with 22q11.2DS, assessing cognitive and adaptive functioning using standardized tests.
Potential Biases
Ascertainment bias may have occurred due to recruitment from specialized clinics.
Limitations
The study's retrospective nature may introduce bias, and not all individuals had assessments of adaptive functioning.
Participant Demographics
Participants were Dutch-speaking adults aged 16-69 years, with a mean age of 28.66 years.
Statistical Information
P-Value
P < 0.001
Confidence Interval
95% CI 1.01–2.83
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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