ERN CRANIO

The care and treatment of patients with craniosynostosis and the new developments were described for health care professionals involved in this in the guideline "Treatment and Management of Craniosynostosis", which was revised in 2020. A patient version was written based on the professional guideline to make the information accessible to patients and parents too. In this patient version, each chapter consists of several sections. Firstly, an introduction and background information is provided in each chapter. Various questions are then answered based on scientific literature. Finally, the recommendations indicate the importance of the literature for care in practice and how this care should be provided in practice. This patient version is an abbreviated and simplified representation of the professional guideline. The introduction, conclusions, and recommendations sections of each chapter were revised and, where necessary, rewritten. With some surgical techniques, links to animation videos (recognizable by underlined references) have been added in the text for clarification. An attempt was made to stay as close as possible to the original guideline in terms of content, questions, numbering, and classification. The patient version can therefore easily be read side by side with the professional guideline if more information is required about a specific subject. As this patient version is a summary and does not deal with all aspects in detail, no rights can be derived from its content and the professional guideline takes precedence at all times. Originally, this patient version has been written in response to the established Dutch guideline on craniosynostosis for health care professionals.2 This professional guideline has been specifically tailored to the Dutch health care setting and policy. There are however differences between health care systems and national health policies of other countries and the Netherlands. It is important to keep in mind that this may, at some points, result in the management of care in your country and/or hospital different from outlined here.

BACKGROUND: The CLEFT-Q, a questionnaire developed and validated specifically for cleft patients, contains seven appearance scales. The International Consortium of Health Outcomes Measurement (ICHOM) has incorporated only some CLEFT-Q appearance scales in the Standard Set to minimize burden. This study evaluates which appearance scales provide the most meaningful information in the different cleft types at specific ages, for the most efficient cleft appearance outcome assessment. METHODS: Within this international multicenter study, outcomes of the seven appearance scales were collected, either as part of the ICHOM Standard Set, or as part of the field test study performed to validate the CLEFT-Q. Analyses were performed in separate age groups and cleft types, and involved univariate regression analyses, trend analyses, t tests, correlations, and floor and ceiling effects. RESULTS: A total of 3116 patients were included. Scores for most appearance scales showed a downward trend by age group, with the exception of the Teeth and Jaw scales. In all cleft types, several scales correlated strongly with each other. No floor effects were observed, but ceiling effects were found in several scales in different age groups, most often in the CLEFT-Q Jaw scale. CONCLUSIONS: A proposition for the most meaningful and efficient appearance outcome assessment in cleft patients is made. It was composed so that recommendations are of value for different cleft protocols and initiatives. Suggestions for the use of scales in the ICHOM Standard Set at different ages are given, and also from a clinical perspective. Use of the CLEFT-Q Scar, Lips, and Nose scales will provide additional relevant information.

Facial dysostosis syndromes (FDS) are rare congenital conditions impacting facial development, often leading to diverse craniofacial abnormalities. This study addresses the scarcity of evidence on these syndromes about optimal diagnostic and treatment practices. To overcome this scarcity, European experts from ERN CRANIO collaborated to develop a clinical consensus statement through the Delphi consensus method. A systematic search of Embase, MEDLINE/PubMed, Cochrane, and Web of Science databases was conducted until February 2023. The quality of evidence was evaluated using various tools depending on the study design. Statements were subsequently formed based on literature and expert opinion, followed by a Delphi process with expert health care providers and patient representatives. In total, 92 experts from various specialties and three patient representatives were involved in the Delphi process. Over 3 voting rounds, consensus was achieved on 92 (46.9%), 58 (59.2%), and 19 (70.4%) statements, respectively. These statements cover the topics of general care; craniofacial reconstruction; the eyes and lacrimal system; upper airway management; genetics; hearing; speech; growth, feeding, and swallowing; dental treatment and orthodontics; extracranial anomalies; and psychology and cognition. The current clinical consensus statement provides valuable insights into optimal diagnostic and treatment practices and identifies key research opportunities for FDS. This consensus statement represents a significant advancement in FDS care, underlining the commitment of health care professionals to improve the understanding and management of these rare syndromes in Europe.

Background:The CLEFT-Q is a questionnaire developed for patients with a cleft lip and/or palate (CL/P). Numerous scales have been implemented as part of the ICHOM Standard Set for CL/P. Although validated for completion by patients only, clinicians noted that caregivers are often involved in completion of the scales. Aim of the study was to promote further standardization of Patient Reported Outcome Measures (PROMs) in pediatric patients by examining the preferences of patients and parents concerning the reporter type. Moreover, possible discrepancies in outcomes between reporter types were explored. Methods: Data from 567 patients with CL/P and their caregivers that completed scales of the CLEFT-Q questionnaire were collected. Reporter group sizes and proportions were examined at the ages of 8, 12, and 15 years to determine the preferred manner of completion. Mean outcomes were analyzed per scale at the 3 ages, and compared between the 3 reporter groups: “patient,” “caregiver,” and “together.” Results: In all age-groups, the majority completed the PROMs together. Concerning the reporter types per age-group, an upward trend was seen in the proportion of patients that completed the scales alone. In the caregiver group, a downward trend was observed, and the highest proportion of parents that completed the scales was found at age 8. No significant differences were found between the reporter types in any of the scales. Conclusion: Even if a PROM questionnaire is validated for patient report only, it is recommended to record the reporter type when a pediatric PROM is completed. In order to capture outcomes that represent the patient’s voice validly and reliably, though with support of the caregiver, a pediatric PROM should be filled out by the patient alone and thereafter evaluated with the caregiver(s). Concerning the CLEFT-Q, there seems to be demand for a validated parent-version of the scales.

Miller syndrome is an extremely rare condition in the group of facial dysostosis syndromes. These syndromes have great phenotypic overlap and variability, even within families. To facilitate the differentiation of Miller syndrome from related facial dysostosis syndromes, such as Treacher Collins and Nager syndrome, this study aims to provide an overview of the phenotypic spectrum of the syndrome. A systematic literature search of Embase, MEDLINE/PubMed, Web of Science, and CINAHL was conducted until November 2024. Case reports and case series of patients with a clinical or genetic diagnosis of Miller syndrome in all languages were included. The quality of the included reports was assessed using the Joanna Briggs Institute critical appraisal tool and the Fichas de Lectura Critica 3.0 web application. In total, 44 cases of Miller syndrome were found, with only 18.2% having genetic confirmation. Craniofacial anomalies were prominent, including midface hypoplasia (72.7%) and micrognathia (75.0%), orofacial clefts (77.3%), eyelid anomalies (70.5%), and external ear anomalies (63.6%). Limb anomalies were present in all cases, primarily involving the hands (95.5%), forearms (52.3%), and feet (90.9%). Anomalies in other extracraniofacial tracts were also reported. Despite limitations, including limited genetic confirmation and reliance on literature, this study provides valuable insights into the phenotypic spectrum of Miller syndrome. Efforts for genetic confirmation, international collaboration, and comprehensive reporting are essential to advance research and care for rare conditions like Miller syndrome. Therefore, a detailed checklist for phenotypic evaluation in Miller syndrome cases is provided in this study.

Facial dysostosis syndromes (FDS) are rare congenital conditions that significantly impact facial function and appearance. At the time of this writing, standardised monitoring protocols for FDS are lacking, hampering research, and evidence-based care. Thus, a comprehensive dataset was developed within the European Reference Network for Rare and Complex Craniofacial Anomalies (ERN CRANIO). Candidate data elements were identified through a systematic literature review (1985-2024) and supplemented with elements from existing ERN CRANIO datasets and expert panel suggestions. A Delphi survey was then conducted among 61 clinicians and 3 patient representatives to assess each element's relevance and reliability using a 9-point Likert scale. A subsequent hybrid consensus meeting with the expert panel shaped the final dataset, ensuring comprehensive coverage, avoiding overlap, and determining the appropriate timing for data collection. Of 200 data elements that entered the Delphi voting, 98 were strongly recommended, 102 scored neutral, and none were strongly discouraged. Ultimately, 110 elements were included, organised into 2 levels: Level 1, comprising exclusively patient-reported and parent-reported outcome measures; and Level 2, encompassing patient characteristics, treatment information, clinical outcomes, and imaging/diagnostics. This newly developed dataset marks the first international registry for FDS, offering considerable potential for collaborative research, cross-centre comparisons, and substantial improvements in care for patients with FDS worldwide. Real-world implementation will be essential to evaluate its feasibility and guide further refinements.

BACKGROUND: A good patient-clinician relationship is an important aspect of quality of care according to patients living with a rare congenital craniofacial condition and their parents. Despite efforts, the challenging question remains how to improve this relationship. OBJECTIVE: The authors describe the value and impact of using arts-based methods as a catalyst for bringing the 2 'worlds' of patients and their parents and that of clinicians together. METHODS: FACE ME, developed by 2 visual artists, consisted of reorganizing the house of a surgeon with a group of patients (n=3), surgeons (n=3), and a parent (n=1) resulting in 2 artworks. The following data were analyzed using reflexive thematic analysis: the film recording the process, photos of the artworks (i.e., end-results of 2 reorganizations), conversations and reflections of the project group involved, and survey results of respondents who watched the film and photos. RESULTS: Four intertwined themes describe the impact and value of FACE ME: (1) importance of exchanging trust, (2) seeing each other as a person, (3) imagine standing in each other's shoes, and 4) working as a team. These themes represent both perspectives and their similarities in expectations of a good relationship, and findings were supported by the views of the project group and the audience watching the film. CONCLUSION: FACE ME crossed the boundaries of clinicians, patients, and their parents, and created a better mutual understanding. This arts-based project started a different conversation, and reflection, changed mindsets, and provoked actions towards a better relationship.

Currently, it is unclear which tasks and competencies nurse specialists provide within the European Reference Network for Craniofacial Anomalies and Ear, Nose, Throat Disorders (ERN CRANIO). This study aims to establish an expert consensus on the needed competencies for this nursing role. A narrative literature search on the role of nurses within cleft and craniofacial care was conducted. Statements on competencies and tasks were formed based on literature and expert opinion and categorized according to the Canadian Medical Education Directives for Specialists roles. A Delphi consensus process was conducted with nurse specialists from ERN CRANIO centers. A 9-point Likert Scale was used to measure consensus, which was defined as a mean score of ≥7 and ≤1 outliers. In total, 31 nurse specialists from 19 centers in 12 countries participated in the Delphi process. Overall, 105 statements on competencies and tasks achieved consensus. The domain "communicator" reached consensus on all items, while the domains "manager" and "scholar" perceived lesser and slower consensus. The nursing title, education, and nursing scope of practice revealed a great variety. This study provides valuable insight into the utilization of nursing roles with ERN CRANIO centers. Apart from demonstrating similarities, it also shows that national health care regulations and education pathways lead to different positions and (clinical) responsibilities of nurses. A European unification of nursing education and titles could ensure easier communication and collaboration between health professionals and might support a greater establishment of well-defined nurse specialist roles in ERN CRANIO centers.