Table 2.
Clustered findings occurrence among identified records
|
Finding 20
|
Current state of medical education for approaching rare diseases is inadequate |
[5,8,10,13-15,17-19,22,23,25,28,31,34,35,45,49,54,56-59,62,63,66,73-76,78,79,81] |
|
Finding 12
|
Longitudinal care for patients with rare diseases is fundamental and should be integrated |
[1-4,7-11,16,18,21,23,25-29,32,34,36,42,45,47,53,58,60,62,66-70] |
|
Finding 13
|
Primary health care level can identify some signs and symptoms before any health care level, favouring an early diagnosis |
[1,2,4,8,21,23,27,32,35,38-40,42,44,45,47,52,58,61,69-71,80] |
|
Finding 29
|
There is a need to establish and create specific-disease emergency protocols |
[7,16,22,23,34-36,38,46,59,60,62,63,66,69,71,74-76] |
|
Technology
|
Technology – the use of digital health solutions has been significantly impacting the diagnosis, treatment, and long-term follow-up of patients with rare diseases |
[12,14,16,19,20,24,29,36,39,46,48,50,51,58,64,65,71,73,74] |
|
Finding 1
|
Diagnoses of rare diseases is difficult |
[18,21,25,35-38,48,52,57,58,72-74] |
|
Finding 32
|
Patients and families experience an extensive number of consultations until a definitive diagnosis if a misdiagnose is not established priorly |
[8,9,18,25,43,45,50,58,63,68] |
|
Finding 17
|
The feeling of general practitioners to prioritize access to secondary and tertiary levels of care is relevant |
[4,7,11,17,23,25,34,42,43,45,53,57] |
|
Finding 15
|
There is a notable low interest in pharmaceutical industries in identifying new drugs for rare diseases because of their low prevalence |
[4,14,15,25,33,35,45,49,58,61,77] |
|
Finding 31
|
Primary health care system is the gateway for approaching and following up with patients with rare diseases |
[8,11,15,26,30,34,39,47,59,69,71] |
|
Finding 23
|
Healthcare providers usually seek information about rare diseases on websites and in peer-to-peer discussions |
[4-6,8,15,22,23,29,53,61] |
|
Finding 27
|
Continuous educational and training programs are primarily unknown by health care providers |
[6,11,40,41,56,61,62,73,75,78] |
|
Finding 30
|
Translating results from genetic counselling to “patients and parent’s language” should be endorsed and performed |
[7,14,26,34,41,52,56,57,74,78] |
|
Finding 36
|
The care for patients with rare diseases must be multidisciplinary |
[11,14,21,30,32,58,60,67,73,75] |
|
Finding 35
|
The prevalence of rare diseases is globally unknown and controversial |
[10,18,25,43,45,50,58,63,68] |
|
Finding 16
|
Lawmakers and multiple stakeholders are alert and engaged in improving the quality of life of patients with rare diseases |
[4,14,19,35,42,46] |
|
Finding 21
|
Family and advocacy agencies commonly request actions to offer an integrated and person-centred delivery of care |
[4,23,32,34,35,42,67,72] |
|
Finding 3
|
There is a remarkable difference in-between medical specialty |
[25,40,50,53,54,58,76,78] |
|
Finding 18
|
The global impact of rare diseases on patient’s lives is still unknown by health care providers |
[4,-6,8,14,37,39,81] |
|
Finding 9
|
There is a substantial economic impact caused by rare diseases in households, mostly related to expensive medications and diagnosis tests |
[23,37,45,49,52,58,72] |
|
Finding 10
|
Pre-natal and post-natal screening is essential to identify some rare diseases |
[16,19,41,49,67,78] |
|
Finding 11
|
Current health care systems settings do not allow a good experience for patients with rare diseases |
[22,30,42,48,72,77] |
|
Finding 33
|
Patients’ and family’s needs and concerns are not addressed by most health care professionals |
[8,25,26,36,45,79] |
|
Finding 25
|
Physicians fear delaying diagnosis because of lack of experience and believe that they have an active role in managing patients with rare diseases |
[5,25,47,53,78] |
|
Finding 7
|
Knowledge diffusion might help with diseases misunderstanding and lack of knowledge |
[16,22,27,34,58] |
|
Finding 19
|
Current state of medical education for approaching rare diseases is adequate |
[4,10,22] |
|
Finding 37
|
Judicialization is beneficial for patients with rare diseases |
[49,55,77] |
|
Finding 14
|
The complex knowledge needed for the management of rare diseases is incompatible with the primary health care |
[2,81] |
|
Finding 22
|
A critical complaint reported by health care providers is associated with the difficulty to information access about rare diseases |
[54,81] |
|
Finding 26
|
The impact of rare diseases on families stimulates health care providers to improve their knowledge |
[5,23] |
|
Finding 28
|
By anticipating and recognizing available regional interventions, health care providers can increase the delivery of care to patients with rare diseases |
[7,30] |
|
Finding 34
|
Strong medications are commonly prescribed for patients with rare diseases until a definite diagnose |
[8,61] |
|
Finding 38
|
Patients with rare diseases have significantly lower social interaction than patients without rare diseases |
[48,79] |
|
Finding 39
|
“Expert patients” might have a conflicting relationship with physicians during the management of their disorders |
[23,29] |
|
Finding 5
|
Fast identification of a rare disease results in the decrease of impact provoked by the disease and allow fast delivery of medical interventions |
[47,19] |
|
Finding 2
|
Nutritional follow-up of patients with rare diseases is crucial, particularly among patients with inborn errors of metabolism |
[38] |
|
Finding 4
|
The shortage of patients for research, including rare diseases patients, can be overcome with online recruiting platforms |
[39] |
|
Finding 6
|
Domestic (in-house) delivery of medical treatment should be considered in some rare diseases |
[11] |
|
Finding 8
|
Non-pharmacological interventions are effective and should be investigated |
[30] |
|
Finding 24
|
Social health care workers have a slightly increased experience than other health care providers in assessing and managing rare diseases |
[5] |
| Finding 40 | The roles of the primary health care level are numerous and should be strengthened | [60] |