questionsmedicales.fr
Phénomènes génétiques
Structures génétiques
Génome
Composants de génome
Gènes
Composants de gène
Sites d'épissage d'ARN
Sites d'épissage d'ARN : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Épissage de l'ARN
Séquençage de l'ARN
Électrophorèse
Séquençage de l'ARN
Mutations génétiques
Diagnostic médical
Bioinformatique
Prédiction des sites d'épissage
Anomalies génétiques
Tests génétiques
Symptômes
5
Troubles neurologiques
Anomalies congénitales
Mutations génétiques
Symptômes cliniques
Fatigue
Troubles cognitifs
Symptômes néonatals
Développement
Évolution des symptômes
Conditions médicales
Prévention
5
Prévention
Conseil génétique
Dépistage prénatal
Risques génétiques
Facteurs environnementaux
Toxines
Alimentation
Prévention des maladies
Suivi médical
Détection précoce
Traitements
5
Thérapie génique
Médicaments ciblés
Efficacité thérapeutique
Thérapie génique
Traitements symptomatiques
Gestion des symptômes
Médecine personnalisée
Mutations génétiques
Essais cliniques
Nouvelles thérapies
Complications
5
Complications médicales
Troubles neurologiques
Réversibilité
Gestion des complications
Qualité de vie
Soutien médical
Handicaps
Complications à long terme
Variabilité individuelle
Complications médicales
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Âge parental
Mutations génétiques
Produits chimiques
Facteurs environnementaux
Mode de vie
Prévention des maladies
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Sites d'épissage d'ARN : Questions médicales les plus fréquentes",
"headline": "Sites d'épissage d'ARN : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Sites d'épissage d'ARN : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-02-14",
"dateModified": "2025-02-08",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Sites d'épissage d'ARN"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Composants de gène",
"url": "https://questionsmedicales.fr/mesh/D040461",
"about": {
"@type": "MedicalCondition",
"name": "Composants de gène",
"code": {
"@type": "MedicalCode",
"code": "D040461",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "G05.360.340.024.340.137"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Sites d'épissage d'ARN",
"alternateName": "RNA Splice Sites",
"code": {
"@type": "MedicalCode",
"code": "D022821",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Přemysl Souček",
"url": "https://questionsmedicales.fr/author/P%C5%99emysl%20Sou%C4%8Dek",
"affiliation": {
"@type": "Organization",
"name": "Centre for Cardiovascular Surgery and Transplantation, 65691, Brno, Czech Republic. premysl.soucek@cktch.cz."
}
},
{
"@type": "Person",
"name": "Tomáš Freiberger",
"url": "https://questionsmedicales.fr/author/Tom%C3%A1%C5%A1%20Freiberger",
"affiliation": {
"@type": "Organization",
"name": "Centre for Cardiovascular Surgery and Transplantation, 65691, Brno, Czech Republic."
}
},
{
"@type": "Person",
"name": "Matthew R Gazzara",
"url": "https://questionsmedicales.fr/author/Matthew%20R%20Gazzara",
"affiliation": {
"@type": "Organization",
"name": "Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Phildelphia, United States."
}
},
{
"@type": "Person",
"name": "Yoseph Barash",
"url": "https://questionsmedicales.fr/author/Yoseph%20Barash",
"affiliation": {
"@type": "Organization",
"name": "Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Phildelphia, United States."
}
},
{
"@type": "Person",
"name": "Akihide Yoshimi",
"url": "https://questionsmedicales.fr/author/Akihide%20Yoshimi",
"affiliation": {
"@type": "Organization",
"name": "Division of Cancer RNA Research, National Cancer Center Research Institute."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Psychometric evaluation of the WHODAS 2.0 and prevalence of disability in a Swedish general population.",
"datePublished": "2023-04-05",
"url": "https://questionsmedicales.fr/article/37020121",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1186/s41687-023-00580-0"
}
},
{
"@type": "ScholarlyArticle",
"name": "Health disparities associated with access to disability evaluations for toddlers in Early Head Start.",
"datePublished": "2022-12-27",
"url": "https://questionsmedicales.fr/article/36575049",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1111/jir.13003"
}
},
{
"@type": "ScholarlyArticle",
"name": "Multidimensional Disability Evaluation and Confirmatory Analysis of Older Adults in a Home-Based Community in China.",
"datePublished": "2022-06-21",
"url": "https://questionsmedicales.fr/article/35801251",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3389/fpubh.2022.899303"
}
},
{
"@type": "ScholarlyArticle",
"name": "Evaluation of Disability Progression in Multiple Sclerosis via Magnetic-Resonance-Based Deep Learning Techniques.",
"datePublished": "2022-09-13",
"url": "https://questionsmedicales.fr/article/36142563",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/ijms231810651"
}
},
{
"@type": "ScholarlyArticle",
"name": "Health professionals' experiences with the PEDI-UG: What do Ugandan occupational therapists say about the utility and value of the Pediatric Evaluation of Disability Inventory (PEDI-UG) for children with disabilities?",
"datePublished": "2022-10-28",
"url": "https://questionsmedicales.fr/article/36251008",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1111/cch.13071"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Phénomènes génétiques",
"item": "https://questionsmedicales.fr/mesh/D055614"
},
{
"@type": "ListItem",
"position": 3,
"name": "Structures génétiques",
"item": "https://questionsmedicales.fr/mesh/D040342"
},
{
"@type": "ListItem",
"position": 4,
"name": "Génome",
"item": "https://questionsmedicales.fr/mesh/D016678"
},
{
"@type": "ListItem",
"position": 5,
"name": "Composants de génome",
"item": "https://questionsmedicales.fr/mesh/D040481"
},
{
"@type": "ListItem",
"position": 6,
"name": "Gènes",
"item": "https://questionsmedicales.fr/mesh/D005796"
},
{
"@type": "ListItem",
"position": 7,
"name": "Composants de gène",
"item": "https://questionsmedicales.fr/mesh/D040461"
},
{
"@type": "ListItem",
"position": 8,
"name": "Sites d'épissage d'ARN",
"item": "https://questionsmedicales.fr/mesh/D022821"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Sites d'épissage d'ARN - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Sites d'épissage d'ARN",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-07",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Sites d'épissage d'ARN",
"description": "Comment identifier un site d'épissage ?\nQuels tests sont utilisés pour le diagnostic ?\nLes mutations affectent-elles le diagnostic ?\nQuels outils bioinformatiques sont utilisés ?\nComment les anomalies sont-elles détectées ?",
"url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Disability+Evaluation#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Sites d'épissage d'ARN",
"description": "Quels symptômes sont liés aux défauts d'épissage ?\nLes symptômes varient-ils selon les mutations ?\nY a-t-il des symptômes spécifiques à surveiller ?\nLes symptômes apparaissent-ils tôt ?\nComment les symptômes évoluent-ils ?",
"url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Disability+Evaluation#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Sites d'épissage d'ARN",
"description": "Peut-on prévenir les défauts d'épissage ?\nLe dépistage prénatal est-il utile ?\nQuels facteurs environnementaux influencent ?\nL'alimentation joue-t-elle un rôle ?\nLe suivi médical est-il important ?",
"url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Disability+Evaluation#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Sites d'épissage d'ARN",
"description": "Quels traitements existent pour les défauts d'épissage ?\nLa thérapie génique est-elle efficace ?\nY a-t-il des traitements symptomatiques ?\nLes traitements sont-ils personnalisés ?\nDes essais cliniques sont-ils disponibles ?",
"url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Disability+Evaluation#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Sites d'épissage d'ARN",
"description": "Quelles complications peuvent survenir ?\nLes complications sont-elles réversibles ?\nComment les complications affectent-elles la qualité de vie ?\nY a-t-il des complications à long terme ?\nLes complications varient-elles selon les individus ?",
"url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Disability+Evaluation#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Sites d'épissage d'ARN",
"description": "Quels sont les facteurs de risque génétiques ?\nL'âge parental influence-t-il le risque ?\nLes infections pendant la grossesse sont-elles un risque ?\nL'exposition à des produits chimiques est-elle un facteur ?\nLe mode de vie influence-t-il le risque ?",
"url": "https://questionsmedicales.fr/mesh/D022821?mesh_terms=Disability+Evaluation#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment identifier un site d'épissage ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'identification se fait par analyse bioinformatique et séquençage de l'ARN."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour le diagnostic ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent l'électrophorèse et le séquençage de l'ARN."
}
},
{
"@type": "Question",
"name": "Les mutations affectent-elles le diagnostic ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les mutations dans les sites d'épissage peuvent entraîner des erreurs de diagnostic."
}
},
{
"@type": "Question",
"name": "Quels outils bioinformatiques sont utilisés ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des outils comme SpliceAI et MaxEntScan aident à prédire les sites d'épissage."
}
},
{
"@type": "Question",
"name": "Comment les anomalies sont-elles détectées ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les anomalies sont détectées par des analyses de l'ARN et des tests génétiques."
}
},
{
"@type": "Question",
"name": "Quels symptômes sont liés aux défauts d'épissage ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent inclure des troubles neurologiques et des anomalies congénitales."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon les mutations ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes dépendent du type de mutation et du gène affecté."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques à surveiller ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Surveillez les signes de fatigue, de douleur musculaire et de troubles cognitifs."
}
},
{
"@type": "Question",
"name": "Les symptômes apparaissent-ils tôt ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains symptômes peuvent apparaître dès la naissance, d'autres plus tard."
}
},
{
"@type": "Question",
"name": "Comment les symptômes évoluent-ils ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'évolution des symptômes peut être progressive ou soudaine, selon la condition."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les défauts d'épissage ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais le conseil génétique peut aider les familles à risque."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal est-il utile ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage prénatal peut identifier certains risques de défauts d'épissage."
}
},
{
"@type": "Question",
"name": "Quels facteurs environnementaux influencent ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs comme l'exposition à des toxines peuvent influencer les défauts d'épissage."
}
},
{
"@type": "Question",
"name": "L'alimentation joue-t-elle un rôle ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée peut réduire certains risques, mais ne prévient pas tous les défauts."
}
},
{
"@type": "Question",
"name": "Le suivi médical est-il important ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi médical régulier peut aider à détecter précocement des anomalies."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour les défauts d'épissage ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la thérapie génique et les médicaments ciblés."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle efficace ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle peut être efficace pour corriger certains défauts d'épissage, mais pas tous."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements symptomatiques ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des traitements symptomatiques peuvent aider à gérer les symptômes associés."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils personnalisés ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traitements peuvent être adaptés en fonction des mutations spécifiques."
}
},
{
"@type": "Question",
"name": "Des essais cliniques sont-ils disponibles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des essais cliniques évaluent de nouvelles thérapies pour ces conditions."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques et des maladies métaboliques."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent gravement affecter la qualité de vie, nécessitant un soutien continu."
}
},
{
"@type": "Question",
"name": "Y a-t-il des complications à long terme ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications à long terme peuvent inclure des handicaps physiques ou mentaux."
}
},
{
"@type": "Question",
"name": "Les complications varient-elles selon les individus ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent varier considérablement d'un individu à l'autre."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque génétiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de maladies génétiques augmentent le risque de défauts d'épissage."
}
},
{
"@type": "Question",
"name": "L'âge parental influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'âge avancé des parents peut augmenter le risque de mutations génétiques."
}
},
{
"@type": "Question",
"name": "Les infections pendant la grossesse sont-elles un risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections peuvent affecter le développement embryonnaire et augmenter les risques."
}
},
{
"@type": "Question",
"name": "L'exposition à des produits chimiques est-elle un facteur ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à certains produits chimiques peut augmenter le risque de défauts d'épissage."
}
},
{
"@type": "Question",
"name": "Le mode de vie influence-t-il le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie sain peut réduire certains risques, mais ne les élimine pas complètement."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 08/02/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Centre for Cardiovascular Surgery and Transplantation, 65691, Brno, Czech Republic. premysl.soucek@cktch.cz.
Faculty of Medicine, Masaryk University, 62500, Brno, Czech Republic. premysl.soucek@cktch.cz.
Publications dans "Sites d'épissage d'ARN" :
3 publications dans cette catégorie
Affiliations :
Centre for Cardiovascular Surgery and Transplantation, 65691, Brno, Czech Republic.
Faculty of Medicine, Masaryk University, 62500, Brno, Czech Republic.
Publications dans "Sites d'épissage d'ARN" :
3 publications dans cette catégorie
Affiliations :
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Phildelphia, United States.
Publications dans "Sites d'épissage d'ARN" :
3 publications dans cette catégorie
Affiliations :
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Phildelphia, United States.
Publications dans "Sites d'épissage d'ARN" :
3 publications dans cette catégorie
Affiliations :
Division of Cancer RNA Research, National Cancer Center Research Institute.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, Shanghai, China; danlu125@163.com.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, Shanghai, China; gongxl@shchildren.com.cn.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, Shanghai, China; guoxb@shchildren.com.cn.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, Shanghai, China; chenyw@shchildren.com.cn.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, Shanghai, China; ytzeng@stn.sh.cn.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Shanghai Children's Hospital, 24/1400 West Beijing Road, Shanghai, --- Select One ---, China, 200040; simg1978@126.com.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
MRC Laboratory of Molecular Biology, Cambridge CB2 0QH, United Kingdom; email: mwilkin@mrc-lmb.cam.ac.uk, ccharent@mrc-lmb.cam.ac.uk.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Centre for Cardiovascular Surgery and Transplantation, 65691, Brno, Czech Republic.
Faculty of Medicine, Masaryk University, 62500, Brno, Czech Republic.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Centre for Cardiovascular Surgery and Transplantation, 65691, Brno, Czech Republic.
Faculty of Medicine, Masaryk University, 62500, Brno, Czech Republic.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
School of Computing, Newcastle University, Newcastle, United Kingdom.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Weill Cornell Medical College, New York, NY 10065, USA.
Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Mayo Clinic, Rochester, MN, USA.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Division of Cancer RNA Research, National Cancer Center Research Institute.
Publications dans "Sites d'épissage d'ARN" :
2 publications dans cette catégorie
Affiliations :
Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
Publications dans "Sites d'épissage d'ARN" :
The World Health Organization Disability Assessment Schedule (WHODAS 2.0) is a generic questionnaire that captures health and disability-related functioning information corresponding to six major life...
A cross-sectional survey was performed. Internal consistency reliability was assessed with Cronbach's alpha. The construct validity was evaluated with item-total correlation, Pearson's correlation bet...
Three thousand four hundred and eighty two adults aged 19-103 years (response rate 43%) participated. Significantly higher degrees of disability were reported by the oldest age group (≥ 80 years), adu...
The psychometric properties of the self-administered Swedish 36-item version of the WHODAS 2.0 are comparable to those of other language versions of the instrument. Data of the prevalence of disabilit...
The aim of this investigation was to examine developmental, sociodemographic and familial factors associated with parent reported access to an evaluation in an Early Head Start sample. Children with d...
This study (n = 191) examined how developmental, sociodemographic and parent factors at age 2 were associated with parent reporting the child being evaluated by age 3. Two logistic regression analyses...
The first model found that children in the monitoring zone of developmental risk were more likely to be evaluated per parent report if they were born preterm, male, with increased behaviour problems, ...
This study highlights barriers associated with access to developmental and disability evaluations for children in at-risk families. Health disparities are negatively associated with children's access ...
A robust multi-dimensional disability assessment standard was constructed to consider physical condition, care resources, and social interaction that might lead to disability, to provide a basis for a...
Short-term disability progression was predicted from a baseline evaluation in patients with multiple sclerosis (MS) using their three-dimensional T1-weighted (3DT1) magnetic resonance images (MRI). On...
The Uganda version of Pediatric Evaluation of Disability Inventory (PEDI-UG) was culturally adapted and validated from the PEDI-US, a tool used to evaluate the functional capability of children with o...
A qualitative research design was chosen to explore the participants' viewpoints concerning the utility and value of the PEDI-UG for children with disabilities. Purposive sampling was used to recruit ...
Several challenges concerning the contextual use of PEDI-UG were reported. For example, PEDI-UG being culturally adapted in two languages (English and Luganda) makes it difficult for health profession...
The findings of this study suggest that health professionals are challenged with the use of the PEDI-UG assessment in diverse cultural contexts and/or languages. These challenges are important conside...
The prevention of disability over the long term is the main treatment goal in multiple sclerosis (MS); however, randomized clinical trials evaluate only short-term treatment effects on disability. Thi...
In total, 14,802 6-month confirmed disability progression events were identified in 8741 patients from the global MSBase registry. For each 6-month confirmed progression event (13,321 in the developme...
The score was based on age, sex, MS phenotype, relapse activity, disability score and its change from baseline, number of affected functional system domains and worsening in six of the domains. In the...
Clinicodemographic characteristics of 6-month confirmed disability progression events identify those at high risk of sustained long-term disability. This knowledge will allow future trials to better a...
Our objectives were to examine cross-sectional correlations of headache disability with measures of resilience, anxiety, and depression, and to determine if resilience modified the association between...
Resilience is associated with quality of life and functioning among patients with chronic conditions. We investigated whether resilience strongly mitigates headache-related disability as measured by t...
We prospectively recruited 160 patients with primary headache disorders seen in a tertiary headache medicine program between February 20, 2018 and August 2, 2019. Each participant completed the MIDAS,...
The CDRS-25 score was negatively correlated with the total MIDAS (r = -0.21, p = 0.009), GAD-7 (r = -0.56, p < 0.001), and PHQ-9 scores (r = -0.34, p < 0.001). Well-being inversely correlated with dis...
Traits associated with resilience decreased the odds of severe disability from headaches, whereas anxiety, depression, and headache frequency were strongly associated with higher disability from heada...
To investigate clinically meaningful change for ROADS and ALSFRS-R using a patient-defined approach....
Data were reviewed from participants assessed at the Emory ALS Center from 2019-2022 with two assessments using both ROADS and ALSFRS-R and a completed patient-reported global impression of change sca...
Data were included from 162 participants. For ROADS (total possible normed score = 146), MID = 5.81 and MDC = 2.83 points. For ALSFRS-R (total possible sum-score = 48), MID = 3.24 and MDC = 1.59 point...
Changes that are on average less than 5.81 points (3.98%) on the normed ROADS score or less than 3.24 points (6.75%) on the ALSFRS-R sum-score may not be clinically meaningful according to a patient-d...
To evaluate the impact and acceptability of outpatient physical or occupational therapy (PT/OT) for breast cancer survivors (BCS) with varying levels of upper extremity disability (UED)....
We retrospectively extracted patient and therapy characteristics, UED measured by quick-disabilities of the arm, shoulder and hand (QuickDASH, 0-100 pts.), and patient-rated acceptability (1-item, 0-1...
Patients (N = 417) were 59.89 ± 12.06 years old, 99% female, and attended approximately 10 PT/OT sessions (IQR = 6.0-16.0). Most had high baseline UED (62%), followed by moderate (25%) or low UED (13%...
Outpatient cancer rehabilitation is associated with significant improvement in UED for BCS and was acceptable to patients regardless of UED severity at baseline....
To ensure the validity and therapeutic utility of the Neck disability index (NDI) scale, translations, cultural adaptations and psychometric evidence is necessary. This study aimed to address the abse...
Following guidelines provided by the American Association of Orthopedic Surgeons, the original English NDI scale was cross-culturally adapted into Hindi. The adaptation process included translations (...
The NDI-Hi version exhibited favorable psychometric properties, including good test-retest reliability with an intra-class correlation coefficient (ICC) of 0.87. Internal consistency of the scale was ...
The NDI-Hi demonstrated validity and reliability as an outcome tool for assessing neck disability. It can be effectively utilized in clinical practice and research settings involving Hindi-speaking in...