Analysis of the question–answer service of the Emma Children’s Hospital information centre

The information centre of the Emma Children’s Hospital AMC (EKZ AMC) is a specialised information centre where paediatric patients and persons involved with the patient can ask questions about all aspects of disease and its social implications. The aim of the study was to evaluate the question–answer service of this information centre in order to determine the role of a specialised information centre in an academic children’s hospital, identify the appropriate resources for the service and potential positive effects. For this purpose, a case management system was developed in MS ACCESS. The characteristics of the requester and the question, the time it took to answer questions, the information sources used and the extent to which we were able to answer the questions were registered. The costs of the service were determined. We analysed all questions that were asked in the year 2007. Fourteen hundred thirty-four questions were asked. Most questions were asked by parents (23.3%), healthcare workers (other than nurses; 16.5%) and nurses (15.3%). The scope of the most frequently asked questions include disease (20.2%) and treatment (13.0%). Information on paper was the main information source used. Most questions could be solved within 15 min. Twelve percent to 28% of total working hours are used for the question–answer service. Total costs including staff salary are rather large. In conclusions, taking over the task of providing additional medical information and by providing readily available, good quality information that healthcare professionals can use to inform their patients will lead to less time investment of these more expensive staff members. A specialised information service can anticipate on the information need of parents and persons involved with the paediatric patient. It improves information by providing with relatively simple resources that has the potential to improve patient and parent satisfaction, coping and medical results. A specialised information centre is therefore a valuable and affordable asset to an academic children’s hospital

Will the right Robin patient rise, please? Definitions and criteria during management of Robin sequence patients in the Netherlands and Belgium

Robin Sequence (RS) is characterized by micrognathia and upper airway obstruction (UAO), with or without cleft palate, causing respiratory and feeding problems. Management options are: positioning; nasopharyngeal airway (NPA); tongue-lip adhesion (TLA); mandibular distraction (MDO); and tracheostomy. Controversy exists in literature regarding RS definition and management. Here we describe definitions, management strategies and criteria in opting for management strategies, used by Dutch and Belgian cleft teams. A specifically designed questionnaire was sent to members of all 16 Dutch and Belgian cleft teams. 14 cleft teams returned 35 questionnaires. All used micrognathia as definition criterion, 93.4% cleft palate, 51.5%glossoptosis and 45.7% UAO. Six different RS definitions were used; even within a single team >1 definition was used. All teams used different management strategies: all used positioning, 10 NPA, 6 TLA, 7 MDO, 8 tracheostomy, 5 refer patients with invasive treatment indication. Criteria in opting management modalities were: O2-saturation (89.3%), clinical presentation (86.2%), growth and feeding problems (69.0%), polysomnography (62.1%), and differed within teams. The Dutch and Belgian cleft teams use variable RS definitions, different management modalities and criteria in choosing management strategies. A single, strict definition and evidence-based management guidelines should be formulated for optimal patient car

Differences in analysis and treatment of upper airway obstruction in Robin sequence across different countries in Europe

The goal of this study was to explore the availability of diagnostic and treatment options for managing upper airway obstruction (UAO) in infants with Robin Sequence (RS) in Europe. Countries were divided in lower- (LHECs, i.e., PPP per capita < $4000) and higher-health expenditure countries (HHECs, i.e., PPP per capita ≥$4000). An online survey was sent to European healthcare professionals who treat RS. The survey was designed to determine the availability of diagnostic tools such as arterial blood gas analysis (ABG), pulse oximetry, CO2 analysis, polysomnography (PSG), and sleep questionnaires, as well as to identify the used treatment options in a specific center. Responses were received from professionals of 85 centers, originating from 31 different countries. It was equally challenging to provide care for infants with RS in both LHECs and HHECs (3.67/10 versus 2.65/10, p = 0.45). Furthermore, in the LHECs, there was less access to ABG (85% versus 98%, p = 0.03), CO2 analysis (45% versus 70%, p = 0.03), and PSG (54% versus 93%, p < 0.01). There were no significant differences in the accessibility concerning pulse oximetry, sleep questionnaires, home saturation monitoring, nasopharyngeal tubes, Tuebingen plates, and mandibular distraction. Conclusion: This study demonstrates a large difference in available care for infants with RS throughout Europe. LHECs have less access to diagnostic tools in RS when compared to HHECs. There is, however, no difference in the availability of treatment modalities between LHECs and HHECs.What is Known:• Patients with Robin sequence (RS) require complex and multidisciplinary care. They can present with moderate to severe upper airway obstruction (UAO). There exists a large variety in the use of diagnostics for both UAO treatmentindications and evaluations. In most cases, conservative management of UAO in RS is sufficient. Patients with UAO that persist despite conservative management ultimately need surgical intervention. To determine which intervention is best suitable for the individual RS patient, the level of UAO needs to be determined through diagnostic testing.• There is a substantial variation among institutions across Europe for both diagnostics and treatment options in UAO. A standardized, internationally accepted protocol for the assessment and management of UAO in RS could guide healthcare professionals in the timing of assessment and indications to prevent escalation of UAO. Creating such a protocol might be a challenge, as there are large financial differences between countries in Europe (e.g., health expenditure per capita in purchasing power parity in international dollars ranges from $600 to over$8500).What is New:• There is a substantial variation in the availability of objective diagnostic tools between European countries. Arterial blood gas analysis, CO2 analysis and polysomnography are not equally accessible for lower-healthcare expenditure countries (LHECs) compared to higher-healthcare expenditure countries (HHECs). These differences are not only limited to availability; there is also a difference in quality of these diagnostic tools. Surprisingly, there is no difference in access to treatment tools between LHECs and HHECs.• There is national heterogeneity in access to tools for diagnosis and treatment of RS, which suggests centralization of health care, showing that specialized care is only available in tertiary centers. By centralization of care for RS infants, diagnostics and treatment can be optimized in the best possible way to create a uniform European protocol and ultimately equal care across Europe. Learning what is necessary for adequate monitoring could lead to better allocation of resources, which is especially important in a low-resource setting

Objective measurements for upper airway obstruction in infants with Robin sequence: what are we measuring? A systematic review

Study Objectives: Identifying optimal treatment for infants with Robin sequence (RS) is challenging due to substantial variability in the presentation of upper airway obstruction (UAO) in this population.Objective assessments of UAOand treatments are not standardized. A systematic review of objectivemeasures ofUAO was conducted as a step toward evidence-based clinical decision-making for RS. Methods: A literature search was performed in the PubMed and Embase databases (1990-2020) following PRISMA guidelines. Articles reporting on RS and UAO treatment were included if the following objective measures were studied: Oximetry, polysomnography, and blood gas. Quality was appraised by the methodological index for nonrandomized studies (range: 0-24). Results: A total of 91 articles met the inclusion criteria. The mean methodological index for nonrandomized studies score was 7.1 (range: 3-14). Polysomnography was most frequently used (76%) followed by oximetry (20%) and blood gas (11%). Sleep position of the infantwas reported in 35%of studies, with supine position most frequently, and monitoring time in 42%, including overnight recordings, in more than half. Of 71 studies that evaluated UAO interventions, the majority used polysomnography (90%), of which 61% did not specify the polysomnography technique. Reported polysomnography metrics included oxygen saturation (61%), apnea-hypopnea index (52%), carbon dioxide levels (31%), obstructive apnea-hypopnea index (27%), and oxygen desaturation index (16%). Only 42 studies reported indications for UAO intervention, with oximetry and polysomnography thresholds used equally (both 40%). In total, 34 distinct indications for treatment were identified. Conclusions: This systematic review demonstrates a lack of standardization, interpretation, and reporting of assessment and treatment indications for UAO in RS. An international, multidisciplinary consensus protocol is needed to guide clinicians on optimal UAO assessment in RS

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. It is caused by variants in the transcription factor TCF4. Heterogeneity in the clinical and molecular diagnostic criteria and care practices has prompted a group of international experts to establish guidelines for diagnostics and care. For issues, for which there was limited information available in international literature, we collaborated with national support groups and the participants of a syndrome specific international conference to obtain further information. Here, we discuss the resultant consensus, including the clinical definition of PTHS and a molecular diagnostic pathway. Recommendations for managing particular health problems such as dysregulated respiration are provided. We emphasize the need for integration of care for physical and behavioral issues. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimization of diagnostics and care