FACTORS ASSOCIATED WITH HEALTH-RELATED QUALITY OF LIFE IN CHILDREN WITH CONGENITAL MYOTONIC DYSTROPHY
Notice bibliographique
Résumé
BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder that results from a CTG trinucleotide repeat in the DMPK gene. Congenital myotonic dystrophy (CDM) is the most severe form of DM1, and patients with CDM are reported to have reduced health-related quality of life (HRQoL). However, the relationship between disease manifestations in CDM and HRQoL has not been well-characterized. Most studies assessing HRQoL have focused on adult-onset DM1, showing that excessive daytime sleepiness, fatigue, cognitive deficits, and muscle weakness negatively impact HRQoL. OBJECTIVES: The objective of this study was to evaluate the relationship between HRQoL and neuropsychological function, physical capacity, comorbidities, and disease severity in children with CDM. DESIGN/METHODS: Children with CDM aged 0-13 years were enrolled at two sites. PedsQL Generic Core Scales and Neuromuscular Module Parent Proxy-Reports were used to measure HRQoL. Neuropsychological function was assessed using Pediatric Daytime Sleepiness Scale, Social Communication Questionnaire, Vineland Adaptive Functioning Scale, and Wechsler Intelligence Scale for Children or Wechsler Preschool and Primary Scale of Intelligence. The Six-Minute Walk Test (6MWT) Z-score was used as a measure of physical capacity. CTG repeats, a measure of disease severity, and comorbidities were retrieved from patient histories. Correlations between patient characteristics and HRQoL were computed with the Spearman correlation coefficient in Stata 13.0. RESULTS: Forty-eight participants with CDM were enrolled: 24 females and 24 males with an average age of 6.5 years (SD 3.4). Greater daytime sleepiness was significantly associated with poor overall HRQoL determined by generic (=-0.41, P=0.007) and neuromuscular (=-0.40, P=0.01) measures, as well as psychosocial HRQoL (=-0.46, P=0.002). Higher adaptive functioning (Vineland subscales) was significantly associated with better HRQoL determined by the neuromuscular module: communication (=0.39, P=0.03), daily living skills (=0.54, P=0.002), and socialization (=0.52, P=0.005). Higher physical capacity, determined by 6MWT Z-score, was associated with better physical (=0.37, P=0.04) but not overall HRQoL. An increased number of comorbidities was associated with poor overall HRQoL determined by generic (=-0.40, P=0.009) and neuromuscular (=-0.32, P=0.05) measures. CTG repeats did not correlate with HRQoL. CONCLUSION: This study has identified several factors that are associated with HRQoL in children with CDM. Daytime sleepiness, adaptive functioning, and higher comorbidities had the most pronounced effect on HRQoL. These may be promising factors to target in treatment plans.
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Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,003 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,001 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,001 | 0,000 |
| Science ouverte | 0,000 | 0,001 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,002 | 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 source (Gemma direct ou Codex distillé), 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 ».