Transition services in 22q11 deletion syndrome: Hit or miss
Bibliographic record
Abstract
Introduction: 22q11 deletion syndrome (22q11DS) is a rare genetic condition and the most common microdeletion in humans. The symptomatology is broad and variable between individuals. It is usually diagnosed in childhood and requires a multidisciplinary lifelong approach including a structured transitional care process. This study therefore seeks to enrich our understanding of transitional care for individuals with 22q11DS by exploring the insights from healthcare professionals (HCPs) from Europe and Canada with multidisciplinary backgrounds. Methods: This interview study was part of a larger mixed-methods research project, with the qualitative component concentrating on gathering insights from HCPs involved in patient care through semi-structured interviews. We conducted qualitative thematic analysis while focusing on transitional care within families caring for a child with 22q11DS from the perspective of HCPs. Results: The 20 HCPs interviewed came from diverse professional backgrounds and all had clinical experience with 22q11DS. Our analysis of the data identified three primary themes. Our participants emphasized the inadequacy of the transitional care system, despite its critical importance. HCPs tried their best to overcome the challenges by relying on longer follow-up with their patients, with some even merging children and adult services. There was a shared desire among HCPs for a structured transitional care plan, better access to adult services for 22q11DS, and a more integrated, collaborative approach. Conclusion: This study highlights the inadequacy of transitional care for individuals with 22q11DS and their families, showing a need to better align policies and clinical practice. Filling the gap between existing policies and the desired transitional care services is essential. The latter includes: an appropriate longitudinal transition plan, strong psychological support not only for the individual with 22q11DS but also for their family, a coordination system, and accessible adult services with expertise on 22q11DS.
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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 | 0.007 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.007 | 0.003 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.009 |
| Research integrity | 0.002 | 0.003 |
| Insufficient payload (model declined to judge) | 0.009 | 0.001 |
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".