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Table 1 Actionable guiding clinical questions

From: Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis

1.For patients with suspected or confirmed FSS, SHS, DA1, or DA3, is a craniofacial team, compared with individual speciality referrals, reasonably expected to improve clinical care and to improve achievement of overall treatment outcomes?
2.For patients with suspected FSS, do plastic surgeons, paediatricians, clinical geneticists, orthopaedic surgeons, anaesthesiologists, or dental surgeons have the highest diagnostic accuracy for FSS and should therefore be the first referral option for providers suspecting a diagnosis of FSS, according to the Stevenson criteria?
3.For patients with suspected FSS, SHS, DA1, and DA3, are there non-overlapping definable feature (physical findings or historical data) frequency clusters or individual features that are predictive of diagnosis and that providers must be aware of to improve treatment-related decision-making?
4.For patients with suspected or confirmed FSS, SHS, DA1, or DA3, are there definable feature (physical findings or historical data) frequency clusters or individual features that are predictive of treatment outcome and that providers must be aware of to improve treatment-related decision-making?
5.For patients with FSS, SHS, DA1, or DA3, is aggressive non-operative therapy (e.g., braces, splints, passive manipulation), compared with surgical correction, reasonably expected to improve achievement of overall treatment outcomes?
6.For patients with suspected or confirmed FSS, SHS, DA1, or DA3, is neurological consultation, compared with general evaluation, reasonably expected to improve treatment-related decision-making (i.e., distinguishing myopathic processes from primary neurological processes) and outcomes (i.e., monitoring patients with craniosynostosis).
7.For patients and families affected by FSS, SHS, DA1, or DA3, is early psychiatric consultation, compared with only a general explanation of anticipated clinical course and treatment plans, appropriate to assist in reducing psychosocial sequelae relevant to diagnosis burden?
8.For preschool and school-age patients with FSS, SHS, DA1, or DA3, is intelligence testing, compared with subjective parent and teacher observation, appropriate to assist in improving access to appropriate academic services?
9.For patients with FSS, SHS, DA1, or DA3, is ophthalmological consultation, compared with general evaluation, appropriate to assist in improving reconstructive surgery-related decision-making and to improve achievement of overall treatment outcomes?
10.For patients with FSS, SHS, DA1, or DA3, is otorhinolaryngology consultation, compared with general evaluation, appropriate to assist in improving reconstructive surgery and dysphagia-related decision-making and to improve achievement of overall treatment outcomes?
11.For patients with FSS, SHS, DA1, or DA3, is paediatric dentistry and oral-maxillofacial surgery referral, compared with general dentistry, required to expect reasonable treatment-related decision-making and reduce dental-related health burdens?
12.For patients with FSS, SHS, DA1, or DA3, is physiatry referral, compared with orthopaedic surgery evaluation, required to reduce morbidity from extremity and spinal deformities and other functional burdens and to improve achievement of overall treatment outcomes?
13.For patients with FSS, SHS, DA1, or DA3, is dietectics consultation, compared with general evaluation, appropriate to ensure adequate nutritional intake?
14.For patients with FSS, SHS, DA1, or DA3, are cardiology and pulmonology consultations, compared with general evaluation, appropriate to reduce consequences of recurrent lower respiratory infections and potential right heart strain?
15.For patients with FSS, SHS, DA1, and DA3 who have well vascularised equinovarus resistant to non-operative treatment, should referral for fabrication of prosthetic limb without amputation, compared with surgical intervention, be offered to improve achievement of overall treatment outcomes?
16.Do patients with FSS, SHS, DA1, or DA3, compared with the general population, have special problems that anaesthesia and general emergency medicine providers must consider to expect reasonable treatment-related decision-making and adverse-event free survival?
17.Do patients with FSS, SHS, DA1, or DA3, compared with the general population, have special imaging findings and considerations that radiologists and pathologists must be aware of that are relevant to improving treatment-related decision-making?
18.For patients who may have a risk for a FSS, SHS, DA1, or DA3 pregnancy, is genetic counselling, pre-conception molecular testing, post-conception molecular testing, prenatal ultrasound, or elective abortion reasonably expected to improve decision-making and quality of life outcomes?
19.For delivery of an infant with suspected or confirmed FSS, SHS, DA1, or DA3 or delivery in mother with FSS, SHS, DA1, or DA3, is elective caesarian delivery, compared with vaginal delivery, reasonably expected to reduce foetal and maternal distress and improve adverse-event free survival?