The burden of genetic disease among hospitalized children in Newfoundland
Notice bibliographique
Résumé
Background: The Newfoundland and Labrador (NL) population is enriched for certain genetic diseases due to genetic drift and founder effects. Five previous studies have examined the amount of genetic disease among children admitted to a single pediatric hospital. The frequency of strongly genetic disorders (chromosomal and Mendelian disorders) ranged from 4 to ~11%, and all the hospitals served admixed populations. We conducted a similar study, hypothesizing that the amount of genetic disease among hospitalized NL children might be higher than in the previously published studies. Objectives: We determined the genetic content of 4,144 consecutive hospitalizations to Newfoundland and Labrador's only pediatric hospital. By reviewing the discharge summary, each admission was retrospectively classified into one of 11 genetic content groups. We also compared the utilization of hospital resources by children with strongly genetic versus minimally genetic conditions. Finally, we determined the appropriateness of referrals for genetic services. -- Results: Out of 4,144 children, 8.3% had a strongly genetic disease (342 patients with a Mendelian or chromosomal syndrome). Another ~25% (1,033 patients) had a moderately genetic disease and 67% (2,769 cases) were classified as minimally genetic. Children in the strongly genetic group had a mean length of stay (8.01 d) that was significantly longer than the non-genetic group (3.99 d), with more cumulative surgeries and cumulative hospital days. Children with single-gene disorders were at risk for prolonged lengths of stay (> 7 days). Of 3,281 unique admissions, 1 in 4 children with a diagnosis that is an indication for genetic consultation failed to be referred. The largest deficit occurred for children with mental retardation and for those with birth defects that have a significant genetic component. -- Conclusions: The proportion of admitted children with chromosomal and Mendelian disorders was comparable to previous studies, so that even though certain genetic diseases are overrepresented in NL, this is not reflected among hospitalized children. Our dataset may be enriched for children with high heritability multifactorial diseases (including diabetes and asthma), but comparison with earlier studies is complicated by differences in classification schemes and/or by the fact that the incidence of some of these diseases has increased over the past three decades.
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Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,001 | 0,001 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,002 | 0,000 |
| Intégrité de la recherche | 0,001 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».