Learning from atypical development: A systematic review of executive functioning in children and adolescents with the 22q11.2 deletion syndrome
Bibliographic record
Abstract
In this systematic review, we investigate executive functioning (EF) in a selected population: children and adolescents with 22q11.2 Deletion Syndrome (22q11DS). Studying a selected subset of the population can inform our understanding of typical development by reducing the etiological variability associated with phenotypic expression of EF. In 22q11DS, EF deficits are, at least in part, the consequence of the deletion on chromosome 22. However, the expression of EF phenotype in 22q11DS varies and is possibly influenced by certain risk factors that occur at increased rates in this population. As such, 22q11DS allows us to study the impact of these factors on EF in the context of one underlying genetic etiology. This review shows that inhibition and shifting are impaired in children with 22q11DS, while updating may be spared in childhood. Notably, EF deficits are found in this population after controlling for intellectual abilities, supporting the hypothesis that EF and intelligence do not reflect the same construct. Current evidence suggests that risk factors previously identified in the general population, such as congenital heart defects or low socioeconomic status, may not impact EF in a similar way in 22q11DS. In the process of demonstrating how studying the 22q11DS population can inform and advance our understanding of EF development, we identify gaps in the literature and highlight opportunities for future research.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.011 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.004 | 0.003 |
| Bibliometrics | 0.007 | 0.007 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".