Table 2 Characteristics of included articles in chronological order
Author(s) [ref] | Year of publication | Type and title of article | Type of patient representation | Research step | Highest degree of engagement (Arnstein) |
|---|---|---|---|---|---|
Axelrad [19] | 2004 | Clinical study CS Adaptive skills, cognitive and behavioral characteristics of Costello syndrome | Patient representative organisation | Collecting data | Informing |
Gripp [23] | 2007 | Clinical study CS and CFC Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome | Patient representative organisation | Collecting data | Informing |
Rauen [30] | 2008 | Proceedings CS Research Symposium Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium | Patients Relatives representing patients Patient representative organisation | Choosing research topic Writing content and other ways of representing findings | Consultation |
Rauen [31 ] | 2010 | Proceedings symposium on the Ras/MAPK pathway Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back | Patients Relatives representing patients Patient representative organisation | Choosing research topic Writing content and other ways of representing findings | Consultation |
Romano [3] | 2010 | Guidelines as a result of a conference NS Noonan syndrome: clinical features, diagnosis, and management guidelines | Patient representative organisation | Analyzing and interpreting data Writing content and other ways of representing findings | Partnership |
Pierpont [ 29] | 2014 | Guidelines as a result of a conference CFCS Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines | Patient representative organisation | Analyzing and interpreting data Wwriting content and other ways of representing findings | Partnership |
Rauen [4] | 2015 | Proceedings symposium NF and RASopathies Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues | Patients Relatives representing patients Patient representative organisation | Choosing research topic Writing content and other ways of representing findings | Consultation |
Korf [27] | 2015 | Proceedings of International Meeting on Rasopthies The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach | Patients Relatives representing patients Patient representative organisation | Choosing research topics Formulating plan and technology Writing content and other ways of representing findings | Consultation |
Niemczyk [28 ] | 2015 | Clinical study NS Incontinence in persons with Noonan Syndrome | Patient representative organisation | Collecting data | Informing |
Johnson [ 26] | 2015 | Clinical study CF and CFC Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome | Patient representative organisation | Collecting data | Informing |
Croonen [20 ] | 2016 | Clinical study NS Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives | Patient representative organisation | Collecting data Aanalyzing and interpreting data | Consultation |
Templin [34] | 2016 | Clinical study CFC Prenatal findings in cardio-facio-cutaneous syndrome | Patient representative organisation | Collecting data | Informing |
Stevenson (33] | 2016 | Proceedings of International Symposium on Rasopthies Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome | Relatives representing-patients Patient representative organisation | Choosing research topics Writing content and other ways of representing findings | Consultation |
Garg [21] | 2017 | Clinical study NS, CS and CFC Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway | Patient representative organisation | Collecting data | Informing |
Grant [22] | 2018 | Clinical study NS Reclassification of the BRAF p.Ile208Val variant by case-level data sharing | Relatives representing patients | Choosing research topic | Consultation |
Rauen [32] | 2018 | Proceedings International RASopathies symposium Proceedings of the fifth international RASopathies symposium: When development and cancer intersect | Patients Relatives representing patients Patient representative organisation | Choosing research topic Writing content and other ways of representing findings | Consultation |
Gross [25] | 2020 | Proceedings of meeting to discuss advancing RAS/ RASopathv therapies Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies | Patients Relatives representing patients Patient representative organisation | Choosing research topics Formulating plan and technology Writing content and other ways of representing findings | Placation |
Gripp [24] | 2020 | Proceedings of international meeting on RASopathies The sixth international RASopathies symposium: Precision medicine-From promise to practice | Patient representative organisation | Choosing research topic Writing content and other ways of representing findings | Placation |