Standards of Care

The activities grouped under this area of work are linked to ERN CRANIO’s objective to maximise the quality of care provided to patients with rare and/or complex craniofacial anomalies and ENT disorders.

Clinical guideline development:

For some rare or complex conditions, there are no clinical guidelines available at present. Some do have clinical guidelines available. However, some of these are in need of review and revision. ERN CRANIO seeks to endorse, develop and/or revise existing clinical guidelines to ensure clinical recommendations are standardised and made available to clinicians and patients based on research of the highest quality.

ERN CRANIO-developed guidelines: 

A European guideline on Craniofacial Microsomia is currently in development. 

ERN CRANIO endorsed guidelines: 

Dutch guideline for craniosynostosis (Published in 2015). 

- Dutch guideline for 'schisis' (Published in 2017)

[The term “schisis” in Dutch encompasses all types of facial clefts, most commonly clefts of the lip and/or palate]

- English version of the Dutch guideline for 'schisis' (Translated in 2018 with an ERN CRANIO grant) 

[The type of cleft is clearly specified where needed as there is no direct English translation for the Dutch word 'schisis']. Click here for more information on this translation work. 

Next steps

-Clinical guidelines/consensus statements for more diseases

-Implementation of guidelines in ERN CRANIO centres

-Patient versions of guidelines

 

Patient Journeys: 

With the support of EURORDIS, ERN CRANIO’s patient representatives have worked on developing ‘patient journey’ documents. Creation of these documents asks patient representatives to reflect on their own personal journey with the rare disease they represent and map what their needs were against what would have been the 'ideal clinical care' at each stage. These journeys are then reviewed and added to by others in their rare disease community. Professional experts can also help to review clinical content. 

The patient journeys are presented in visual form. This initiative was started by ERN GENTURIS and representatives have recently published a paper outlining the approach and its benefits. Click here to read. 

Within ERN CRANIO patient journeys are in development for: 

- Cleft Lip/Palate 

- Pierre Robin Sequence 

- Craniosynostosis 

- Genetic hearing loss 

- Craniofacial microsomia 

4/5 of these patient journeys were presented as part of the ERN CRANIO 2019 annual meeting.