Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient numbers are typically small. Despite the value of real-world data collected through ...registries, adequate design and maintenance are integral to data quality. We aimed to describe an overview of the challenges in design, quality management, and maintenance of rare disease registries.A systematic search of English articles was conducted in PubMed, Ovid Medline/Embase, and Cochrane Library. Search terms included "rare diseases, patient registries, common data elements, quality, hospital information systems, and datasets". Inclusion criteria were any manuscript type focused upon rare disease patient registries describing design, quality monitoring or maintenance. Biobanks and drug surveillances were excluded.A total of 37 articles, published between 2001 and 2021, met the inclusion criteria. Patient registries covered a wide range of disease areas and covered multiple geographical locations, with a predisposition for Europe. Most articles were methodological reports and described the design and setup of a registry. Most registries recruited clinical patients (92%) with informed consent (81%) and protected the collected data (76%). Whilst the majority (57%) collected patient-reported outcome measures, only few (38%) consulted PAGs during the registry design process. Few reports described details regarding quality management (51%) and maintenance (46%).Rare disease patient registries are valuable for research and evaluation of clinical care, and an increasing number have emerged. However, registries need to be continuously evaluated for data quality and long-term sustainability to remain relevant for future use.
•Patient registries play an important role in research on anorectal malformations and Hirschsprung disease by facilitating the sharing and collating of data.•The Australia New Zealand Congenital ...Colorectal Registry (ANZCCoRe) is an international, multicentre patient registry aiming to improve clinical outcomes, standardise care, and enhance collaborations between paediatric surgical centres.•In publishing the ANZCCoRe methodology, an example is provided for development of other rare disease patient registries in areas where patients as well as healthcare sites are dispersed.
Colorectal paediatric surgeons, rare and complex colorectal patients, and data on this patient group are dispersed far and wide in Australia and New Zealand (ANZ). Online databases facilitate sharing and collating of data, and may help to connect physically separated clinicians and researchers. The Australia New Zealand Congenital Colorectal Registry (ANZCCoRe) is an international, multicentre patient registry that aims to improve clinical outcomes, standardise care, and enhance collaborations between centres with expertise in paediatric colorectal conditions across ANZ.
The ANZCCoRe will collect retrospective and prospective clinical data of patients with anorectal malformations (ARM) and/or Hirschsprung disease (HD) through an electronic data capturing platform. Collected data will include demographic characteristics, diagnostics, care pathways, associated anomalies, surgical details and complications, and functional outcomes. The datapoints will be categorised into required core data elements and requested additional data elements. Data will be deidentified and stored on secured servers, meeting ethical and legal requirements. Data quality procedures will exist and feasible application of the findability, accessibility, interoperability, and reusability (FAIR) principles will promote data sharing and reuse with other registries.
Besides gaining a better understanding of the patient and disease characteristics, monitoring care, and evaluating health-related outcomes, the ANZCCoRe provides a source for potential research participants. Lastly, the ANZCCoRe enhances advocacy for patients and families affected by colorectal conditions.
The ANZCCoRe is the first multicentre congenital colorectal patient registry in this geographical region. Its strengths lie in facilitating research, standardisation of care, patient advocacy, and collaboration with paediatric surgical centres across ANZ and beyond.
Level of Evidence: IV
Aim: To describe over‐the‐counter (OTC) medicine use by Australian parents for children aged birth to 24 months; types of medicines used and indications for use.
Methods: A cross‐sectional survey ...of parents was conducted using a self‐administered over‐the‐counter medicine use questionnaire. A total of 640 questionnaires were distributed to parents of children who attended a hospital outpatient clinic, maternal and child health centre, or a childcare service in Melbourne, Australia.
Results: A total of 325 questionnaires were completed (50.1%). Of these, 98.2% of parents had reportedly purchased at least one OTC medicine for their child in the previous 12 months. The most commonly purchased medicines were: paracetamol (acetaminophen) (95.9%), choline salicylate (47.3%), ibuprofen (36.4%), and cough and cold products (46.7%). Paracetamol was commonly used for a high temperature (82.4%) and non‐specific pain (62.3%). Over 40% of parents had used cough and cold products to treat cold and flu symptoms. Nineteen (6.1%) parents had used OTC medicines to induce sleep or settle their child.
Conclusions: Most parents had used at least one OTC medicine to manage childhood symptoms. Of concern is that over 40% of parents had used cough and cold products for their young child, despite a lack of evidence surrounding their efficacy. In order to minimise risks associated with OTC medicine use, particularly cough and cold products, health‐care providers need to continue the provision of current evidence‐based information to parents regarding safe and appropriate use of medicines for their child.
Aim: Our aim was to examine the long‐term bowel dysfunction that followed surgery for Hirschsprung's disease.
Methods: Of 414 patients diagnosed with Hirschsprung's disease between 1974 and 2002, ...98 were interviewed using a structured questionnaire to provide an assessment of bowel function, medication, diet, physical and social limitations. Forty‐two completed a prospective 4‐week toileting diary and 16 underwent anorectal manometry.
Results: Four of the 98 patients had permanent stomas and 10 had Down's syndrome. Of the remaining 84 patients (mean age 12 ± 8 years, range 1.9–41.9 years), 13% (11/84) had heavy soiling by day and 17% (14/84) by night. Fifty percent reported episodic urgency, but 36% also reported episodic constipation. Stool consistency was looser in patients with a history of long segment disease. Some aspects of bowel function improved with age. Enuresis was much more frequent than expected. Sixty‐four percent reported adverse reactions to foods, particularly to fruit, vegetables, fats and diary products, and 15% limited their social activities because of fecal incontinence. There were no significant differences in manometric parameters between those patients who soiled and those who did not.
Conclusions: Fecal incontinence is common after surgery for Hirschsprung's disease and has a significant impact on social activities. Some aspects of bowel function did improve with age. Adverse reactions to food were unexpectedly frequent and need to be further studied.
Despite surgical correction, children with anorectal malformations may experience long-term bowel dysfunction, including fecal incontinence and/or disorders of evacuation. Anorectal manometry is the ...most widely used test of anorectal function. Although considerable attention has been devoted to its application in the anorectal malformation cohort, there have been few attempts to consolidate the findings obtained. This systematic review aimed to (1) synthesize and evaluate the existing data regarding anorectal manometry results in children following anorectal malformation repair, and (2) evaluate the manometry protocols utilized, including equipment, assessment approach, and interpretation. We reviewed four databases (Embase, MEDLINE, the Cochrane Library, and PubMed) for relevant articles published between 1 January 1985 and 10 March 2022. Studies reporting post-operative anorectal manometry in children (<18 years) following anorectal malformation repair were evaluated for eligibility. Sixty-three studies were eligible for inclusion. Of the combined total cohort of 2155 patients, anorectal manometry results were reported for 1755 children following repair of anorectal malformations. Reduced resting pressure was consistently identified in children with anorectal malformations, particularly in those with more complex malformation types and/or fecal incontinence. Significant variability was identified in relation to manometry equipment, protocols, and interpretation. Few studies provided adequate cohort medical characteristics to facilitate interpretation of anorectal manometry findings within the context of the broader continence mechanism. This review highlights a widespread lack of standardization in the anorectal manometry procedure used to assess anorectal function in children following anorectal malformation repair. Consequently, interpretation and comparison of findings, both within and between institutions, is exceedingly challenging, if not impossible. Standardized manometry protocols, accompanied by a consistent approach to analysis, including definitions of normality and abnormality, are essential to enhance the comparability and clinical relevance of results.
Purpose
Chronic diseases are notorious in the way that they interfere with many aspects of a child’s development, and this holds true for children with Hirschsprung disease (HD). The present research ...aims to (1) determine whether the health-related quality of life (HRQoL) of HD children differs from healthy paediatric populations; and (2) explore the relationship between HD children’s HRQoL and psychosocial outcomes of parents.
Methods
Using a cross-sectional survey study design, children’s HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL), while parental psychosocial outcomes were measured using the Patient-Reported Outcomes Measurement Information System (PROMIS) anxiety and depression short-forms, Family Management Measure (FaMM), and Parent Experience of Child Illness. Surveys were administered over telephone to parents of 48 Australian children treated for HD (87.5% male, median age 4.5 years) during the period May to November 2021.
Results
While postoperative HRQoL of HD children was comparable to that of healthy age-matched controls, psychosocial quality of life of HD children was significantly poorer (mean difference = 3.40, CI 0.05, 6.76). All parental outcome measures were significantly correlated with the PedsQL (
r
= − 0.77–0.67,
p
< 0.05) in expected directions, with FaMM subscales (except parent mutuality) demonstrating the most variation (
R
2
= 0.41–0.59). Of note, 31.3% of parents reported moderate to severe symptoms of anxiety on the PROMIS.
Conclusion
Despite overall positive results for children, parents reported elevated symptoms of anxiety. This study highlights the importance of long-term follow-up care for HD patients and their families.
Despite surgical advances for complex congenital colorectal conditions, such as anorectal malformation (ARM) and Hirschsprung disease (HD), many adolescents require transfer from specialist pediatric ...to adult providers for ongoing care.
A systematic review of PubMed, MEDLINE and Embase was conducted to identify what is known about the transitional care of patients with ARM and HD (PROSPERO # CRD42022281558). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) framework guided our reporting of studies that focused on the transition care of 10–30-year-olds with ARM and HD.
Eight studies were identified that included patient and parent (n = 188), and/or clinician perspectives (n = 334). Patients and clinicians agreed that transitional care should commence early in adolescence to support transfer to adult care when a suitable level of maturation is reached. There was little evidence from patients that transfer happened in a timely or coordinated manner. Patients felt that clinicians did not always understand the significance of transfer to adult services. No models of transition care were identified. Surgeons ranked ARM and HD as the most common conditions to experience delayed transfer to adult care. Beyond pediatric surgeons, patients also highlighted the importance of general practitioners, transitional care coordinators and peer support groups for successful transition.
There is little research focused on transitional care for patients with ARM and HD. Given evidence of delayed transfer and poor experiences, the development of models of transitional care appears essential.
•The nature of health issues faced by adolescents with congenital colorectal conditions, and the health professionals who care for them, is complex, but poorly described in the literature. We did not identify any successful models of transitional care for this surgical cohort.
Morbidity following repair of Hirschsprung disease (HD) is common. However, quality of life (QoL) results focused on HD children are contradictory. We aimed to measure QoL outcomes in HD children ...using validated questionnaires.
Patients with HD, managed at a large tertiary pediatric institution between 2004 and 2013, were identified. Parents completed validated questionnaires. Results were compared with published healthy population controls. QoL outcomes were measured using Pediatric Quality of Life (PedsQL) and Fecal Incontinence and Constipation Quality of Life (FIC QOL). Functional outcomes were assessed using Baylor Continence Scale, Cleveland Clinic Constipation Scoring System, and Vancouver Dysfunctional Elimination Syndrome Survey.
Parents of 60 HD patients M:F 49:11; median age 6.4years (2.3–10.9) were interviewed (59% participation). The majority (47/60, 78%) had rectosigmoid disease. There was significant reduction in psychosocial (social and emotional) QoL compared with healthy children (p=0.03). Psychosocial functioning was affected by increasing age (r=−2.72, p<0.001), fecal incontinence (r=−0.475, p=0.007), constipation (r=−1.58, p=0.006), and dysfunctional elimination (r=−2.94, p=0.004). Fecal incontinence also reduced physical functioning QoL (r=−0.306, p=0.007). Children with HD had significantly higher levels of fecal incontinence (p<0.01).
We have demonstrated that HD children have significant reductions in psychosocial QoL and functional outcomes.
Prognosis Study – Level II (Prospective cohort study).
Postoperative outcomes for Hirschsprung disease (HD) remain variable, with many patients affected by constipation and/or fecal incontinence. The long-term impact upon quality of life (QoL) for HD ...patients is unclear. We measured long-term QoL outcomes in adolescents with HD using validated questionnaires.
Patients with HD, managed at a large tertiary pediatric institution between 1997 and 2004, were identified. Patients and/or their proxy completed validated questionnaires. Results were compared with published healthy population controls. Two questionnaires assessed QoL: Pediatric Quality of Life Inventory (PedsQL) and Fecal Incontinence and Constipation Quality of Life (FICQOL). Three measures assessed functional outcomes: Baylor Continence Scale, Cleveland Clinic Constipation Scoring System, and Vancouver Dysfunctional Elimination Symptom Survey.
Interviews were completed for 58 (70% response rate) patients M:F, 49:9; median age, 14.5 years (11.1–18.7). No significant differences were found in general QoL scores between patients and healthy controls (84.84 versus 81.49, p = 0.28). Disease-specific questionnaires revealed reduced QoL in patients and families, with 17% of parents reporting the bowel dysfunction stopped their child from socializing and 47% of parents experiencing some degree of anxiety/depression regarding their child's bowel condition. Fecal incontinence (r = −0.59, p < 0.01), constipation (r = −0.36, p = 0.01), and dysfunctional elimination (r = −0.59, p < 0.01) all negatively correlated with QoL scores.
In this study, generic QoL in the adolescent HD population was comparable to healthy populations. However, children with HD have ongoing bowel dysfunction which negatively impacts upon their QoL.
Prognosis study:– level II (prospective cohort study).
The lifelong impact of Hirschsprung disease (HD) upon children and their families is increasingly well recognized. Parental psychosocial wellbeing and family functioning are determinants of ...psychological and health-related outcomes in children with chronic conditions. We performed a cross-sectional cohort study to evaluate the psychosocial functioning of parents/caregivers of children with HD, beyond early childhood.
Parents/caregivers of children with HD, aged 4–14 years, managed at a tertiary pediatric surgical center were surveyed. Parent psychosocial outcomes, including adjustment to illness and family response, were assessed using four validated measures: Family Management Measure (FaMM); Parent Experience of Child Illness (PECI); Patient Reported Outcomes Measurement Information System (PROMISR) anxiety; and PROMISR depression. The Pediatric Quality of Life Inventory (PedsQL) was administered to assess child quality of life (proxy-report).
Forty parents (mean age 38.7 ± 5.6 years) of children with HD (mean age 8.0 ± 2.5) participated. Parents expressed greater long-term uncertainty (PECI) and poorer perceived condition management ability (FaMM) than comparator chronic disease cohorts. Other scores for parental adjustment to their child's condition (PECI) and family response (FaMM) were comparable to reference cohorts. Symptoms of anxiety and depression were prevalent in our cohort (52.5 % and 42.5 % respectively); however, the proportion with moderate - severe PROMISR anxiety (χ2 = 2.50, p = 0.114) and depression (χ2 = 0.156, p = 0.693) scores did not significantly differ from the expected population distribution. Proxy-reported child quality of life (PedsQL) was significantly reduced relative to healthy children (p = 0.0003), but comparable to those with physical health problems with special healthcare needs (p = 0.624).
Parents of children with HD experience long-term uncertainty and have poorer perceived condition management ability than parents of children with other chronic childhood illnesses. This work highlights the importance of targeted parental education and support beyond primary surgical management, and provides a benchmark for this cohort, against which subsequent intervention-based studies may be assessed.
II.
