Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review / Nadia Y. VAN SILFHOUT in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review Type de document : texte imprimé Auteurs : Nadia Y. VAN SILFHOUT, Auteur ; Maud M. VAN MUILEKOM, Auteur ; Clara D. VAN KARNEBEEK, Auteur ; Joost G. DAAMS, Auteur ; Lotte HAVERMAN, Auteur ; Agnies M. VAN EEGHEN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Clinical Trials as Topic  Intellectual Disability/therapy/psychology/genetics  Patient Reported Outcome Measures  Quality of Life  Genetic intellectual disability  Patient reported outcome measures  Patient reported outcomes  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The impact of genetic intellectual disability (GID) on daily life is significant. To better understand the impact of GID, it is essential to measure relevant patient reported outcomes (PROs). The aim of this study is to provide an overview of PROs used for individuals with GID, laying the groundwork for a future generic core PRO set for GID. METHODS: To identify PROs used for individuals with GID, results of two literature reviews were integrated; (1) PROs extracted from a scoping review on outcomes in clinical trials, and (2) PROs identified from a scoping review on core outcome sets (COSs) for specific GIDs through a search in MEDLINE (Ovid), PsycINFO, Embase, and the COMET database. Descriptive analyses were performed. RESULTS: In the first scoping review, 66 different PROs were identified. In the second scoping review, 22 different PROs were identified. After integrating PROs, 18 unique PROs remained, which were classified into a conceptual framework. Most frequently reported PROs were quality of life, perceived health, cognitive functioning, anxiety/stress, and depressive symptoms. CONCLUSION: This study provides an overview of PROs used for individuals with GID. These results will assist in developing a generic core PRO set for GID, to harmonize PROs used in care and research. En ligne : https://dx.doi.org/10.1186/s11689-025-09633-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review [texte imprimé] / Nadia Y. VAN SILFHOUT, Auteur ; Maud M. VAN MUILEKOM, Auteur ; Clara D. VAN KARNEBEEK, Auteur ; Joost G. DAAMS, Auteur ; Lotte HAVERMAN, Auteur ; Agnies M. VAN EEGHEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Clinical Trials as Topic  Intellectual Disability/therapy/psychology/genetics  Patient Reported Outcome Measures  Quality of Life  Genetic intellectual disability  Patient reported outcome measures  Patient reported outcomes  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The impact of genetic intellectual disability (GID) on daily life is significant. To better understand the impact of GID, it is essential to measure relevant patient reported outcomes (PROs). The aim of this study is to provide an overview of PROs used for individuals with GID, laying the groundwork for a future generic core PRO set for GID. METHODS: To identify PROs used for individuals with GID, results of two literature reviews were integrated; (1) PROs extracted from a scoping review on outcomes in clinical trials, and (2) PROs identified from a scoping review on core outcome sets (COSs) for specific GIDs through a search in MEDLINE (Ovid), PsycINFO, Embase, and the COMET database. Descriptive analyses were performed. RESULTS: In the first scoping review, 66 different PROs were identified. In the second scoping review, 22 different PROs were identified. After integrating PROs, 18 unique PROs remained, which were classified into a conceptual framework. Most frequently reported PROs were quality of life, perceived health, cognitive functioning, anxiety/stress, and depressive symptoms. CONCLUSION: This study provides an overview of PROs used for individuals with GID. These results will assist in developing a generic core PRO set for GID, to harmonize PROs used in care and research. En ligne : https://dx.doi.org/10.1186/s11689-025-09633-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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