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Table 2 Characteristics of included articles in chronological order

From: Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review

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