{"id":10706,"date":"2026-10-14T14:59:32","date_gmt":"2026-10-14T12:59:32","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=publications&p=10706"},"modified":"2026-10-14T14:59:33","modified_gmt":"2026-10-14T12:59:33","slug":"navigating-care-for-rare-clinical-practice-guidelines-for-rare-genetic-neurodevelopmental-disorders","status":"publish","type":"publications","link":"https:\/\/ern-ithaca.eu\/fr\/our-research-activities\/publications\/navigating-care-for-rare-clinical-practice-guidelines-for-rare-genetic-neurodevelopmental-disorders\/","title":{"rendered":"G\u00e9rer la prise en charge des maladies rares : recommandations de pratique clinique pour les troubles neurod\u00e9veloppementaux g\u00e9n\u00e9tiques rares"},"content":{"rendered":"","protected":false},"template":"","tags":[],"class_list":["post-10706","publications","type-publications","status-publish","hentry"],"acf":[],"yoast_head":"\nNavigating care for rare: Clinical practice guidelines for rare genetic neurodevelopmental disorders - ERN ITHACA<\/title>\n<meta name=\"description\" content=\"This PhD thesis is situated within the European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism, and Congenital Anomalies), a network of European centres of expertise and patient advocacy groups that aims to improve healthcare for rare (multiple) malformation syndromes and intellectual and other neurodevelopmental disorders, amongst others, through the development of guidelines. Evidence-based medicine integrates the best available evidence, clinical expertise and the values of the patient to arrive at the right medical decision. This thesis aims to advance evidence-based medicine for rare genetic neurodevelopmental disorders by improving guideline development. The first chapters of this thesis provide a general overview of available guidelines and their quality, and of quality criteria for rare disease guidelines. The subsequent chapters address the different steps of the guideline development process, including (1) priority-setting of guideline topics and clinical questions, (2) partnering with patients and collaborating effectively in guideline panels, (3) using evidence-based methods, and (4) integrating values of individuals and families\/carers in recommendations. Then, (5) the ERN-ITHACA guideline on the transition to adult healthcare is presented as an example of guideline development within ERN-ITHACA. Finally, the findings and their implications for research and practice are discussed.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/fr\/our-research-activities\/publications\/navigating-care-for-rare-clinical-practice-guidelines-for-rare-genetic-neurodevelopmental-disorders\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Navigating care for rare: Clinical practice guidelines for rare genetic neurodevelopmental disorders - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"This PhD thesis is situated within the European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism, and Congenital Anomalies), a network of European centres of expertise and patient advocacy groups that aims to improve healthcare for rare (multiple) malformation syndromes and intellectual and other neurodevelopmental disorders, amongst others, through the development of guidelines. Evidence-based medicine integrates the best available evidence, clinical expertise and the values of the patient to arrive at the right medical decision. This thesis aims to advance evidence-based medicine for rare genetic neurodevelopmental disorders by improving guideline development. The first chapters of this thesis provide a general overview of available guidelines and their quality, and of quality criteria for rare disease guidelines. The subsequent chapters address the different steps of the guideline development process, including (1) priority-setting of guideline topics and clinical questions, (2) partnering with patients and collaborating effectively in guideline panels, (3) using evidence-based methods, and (4) integrating values of individuals and families\/carers in recommendations. Then, (5) the ERN-ITHACA guideline on the transition to adult healthcare is presented as an example of guideline development within ERN-ITHACA. 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Evidence-based medicine integrates the best available evidence, clinical expertise and the values of the patient to arrive at the right medical decision. This thesis aims to advance evidence-based medicine for rare genetic neurodevelopmental disorders by improving guideline development. The first chapters of this thesis provide a general overview of available guidelines and their quality, and of quality criteria for rare disease guidelines. The subsequent chapters address the different steps of the guideline development process, including (1) priority-setting of guideline topics and clinical questions, (2) partnering with patients and collaborating effectively in guideline panels, (3) using evidence-based methods, and (4) integrating values of individuals and families\\\/carers in recommendations. Then, (5) the ERN-ITHACA guideline on the transition to adult healthcare is presented as an example of guideline development within ERN-ITHACA. 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