High Prevalence of Neurodevelopmental Disorders in Pediatric Long QT Syndrome: A Single Centre Experience
Bibliographic record
Abstract
Background: Long QT Syndrome (LQTS) is a rare familial ion channelopathy that may result in syncope, cardiac arrest and sudden death. Ion channel gene variants have been implicated in neurodevelopmental disorders (NDDs), however the link between LQTS and NDDs in children is not well characterized. Methods: This retrospective observational cohort study included patients diagnosed with LQTS at <19 years of age with an NDD diagnosis, prospectively enrolled in an inherited arrhythmia registry at a tertiary hospital between April 2015- June 2021. Patients with hypoxic ischemic injury were excluded. Demographics, genetics, therapy and outcomes were evaluated. Results: Among 106 LQTS patients in the registry, we identified 15 (14%) with NDDs. Eleven (73%) of 15 patients were male compared with 4 (27%) females (p=0.02). Thirteen (87%) were KCNQ1 -positive, with mean age at LQTS diagnosis of 6.6 years (SD: 4.3) and baseline QTc of 446ms (SD: 24). Eight (53%) patients had attention deficit hyperactivity disorder, followed by 4 (27%) with learning/communication disorder, 3 (20%) with autism spectrum disorder and 2 (13%) with motor disorder. Nine of 15 (60%) patients received an NDD diagnosis 4.4 (SD: 2.1) years post-LQTS diagnosis; 4 (27%) pre-LQTS diagnosis, and 2 (13%) were unknown. Thirteen (87%) patients were treated with Nadolol monotherapy, 1 (7%) with flecainide and 1 (7%) with lifestyle modifications only. Five (33%) patients were taking a concomitant psychostimulant for their NDD, and none experienced arrhythmic events on therapy. LQTS-related event was experienced by 1 (7%) patient over a mean follow-up of 5.7 (SD: 3.9) years. Conclusion: The prevalence of NDD in LQTS patients (14%) was higher compared to the general population (4.5-9%). Larger studies investigating the link between KCNQ1 , other LQTS-related genes and NDDs are warranted.
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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 | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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".