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Introduction Patient-reported outcome measures (PROMs) can be employed in both research and clinical care to enhance our understanding of outcomes that matter to patients. This narrative review aims to describe PROM use in recent pediatric surgical research, identify and describe psychometrically robust PROMs, providing an overview of those derived from pediatric patient input, and make recommendations for future research. Materials and Methods A search was conducted to identify articles published from 2021 to August 2023 describing the availability and/or use of at least one valid or reliable PROM in children with conditions including anorectal malformations, biliary atresia, congenital diaphragmatic hernia, duodenal atresia, esophageal atresia, abdominal wall defects, Hirschsprung's disease, sacrococcygeal teratoma, and short bowel syndrome. Articles were categorized based on their objectives in applying PROMs. Psychometrically robust PROMs were identified and described. Results Out of the 345 articles identified, 49 met the inclusion criteria. Seventeen focused on esophageal atresia and 14 on Hirschsprung's disease. Twenty-nine PROMs were identified, with 12 deemed psychometrically robust. Seven psychometrically robust PROMs were developed using patient input in the primary item generation. Most PROMs were applied to advance understanding of conditions and/or treatment and fewer were developed or psychometrically evaluated. No PROMs were assessed for their impact or incorporated into an implementation study. Conclusions This review reveals gaps in the application of PROMs in recent pediatric surgical research. Emphasis should be placed on the development and utilization of psychometrically robust PROMs, broadening the scope of covered diseases, conducting impact assessments, and evaluating implementation strategies. [ABSTRACT FROM AUTHOR]

The importance of multidisciplinary long-term follow-up for adults born with esophageal atresia (EA) is increasingly recognized. Hence, a valid, condition-specific instrument to measure health-related quality of life (HRQoL) becomes imperative. This study aimed to develop and validate such an instrument for adults with EA. The Specific Quality of life in Esophageal atresia Adults (SQEA) questionnaire was developed through focus group-based item generation, pilot testing, item reduction and a multicenter, nationwide field test to evaluate the feasibility, reliability (internal and retest) and validity (structural, construct, criterion and convergent), in compliance with the consensus-based standards for the selection of health measurement instruments guidelines. After pilot testing (n  = 42), items were reduced from 144 to 36 questions. After field testing (n  = 447), three items were discarded based on item-response theory results. The final SQEA questionnaire (33 items) forms a unidimensional scale generating an unweighted total score. Feasibility, internal reliability (Cronbach's alpha 0.94) and test–retest agreement (intra-class coefficient 0.92) were good. Construct validity was discriminative for esophageal replacement (P  < 0.001), dysphagia (P  < 0.001) and airway obstruction (P  = 0.029). Criterion validity showed a good correlation with dysphagia (area under the receiver operating characteristic 0.736). SQEA scores correlated well with other validated disease-specific HRQoL scales such as the GIQLI and SGRQ, but poorly with the more generic RAND-36. Overall, this first condition-specific instrument for EA adults showed satisfactory feasibility, reliability and validity. Additionally, it shows discriminative ability to detect disease burden. Therefore, the SQEA questionnaire is both a valid instrument to assess the HRQoL in EA adults and an interesting signaling tool, enabling clinicians to recognize more severely affected patients. [ABSTRACT FROM AUTHOR]

A condition-specific instrument (EA-QOL©) to assess quality of life of children born with esophageal atresia (EA) was developed in Sweden and Germany. Before implementing this in the Netherlands, we evaluated its psychometric performance in Dutch children. After Swedish–Dutch translation, cognitive debriefing was conducted with a subset of EA patients and their parents. Next, feasibility, reliability, and validity were evaluated in a nationwide field test. Cognitive debriefing confirmed the predefined concepts, although some questions were not generally applicable. Feasibility was poor to moderate. In 2-to-7-year-old children, 8/17 items had >5% missing values. In 8-to-17-year-old children, this concerned 3/24 items of the proxy-report and 5/14 items of the self-report. The internal reliability was good. The retest reliability showed good correlation. The comparison reliability between self-reports and proxy-reports was strong. The construct validity was discriminative. The convergent validity was strong for the 2-to-7-year-old proxy-report, and weak to moderate for the 8-to-17-year-old proxy-report and self-report. In conclusion, the Dutch-translated EA-QOL questionnaires showed good reliability and validity. Feasibility was likely affected by items not deemed applicable to an individual child's situation. Computer adaptive testing could be a potential solution to customizing the questionnaire to the individual patient. Furthermore, cross-cultural validation studies and implementation-evaluation studies in different countries are needed. [ABSTRACT FROM AUTHOR]

Background Endoscopic surveillance of adults with esophageal atresia is advocated, but the optimal surveillance strategy remains uncertain. This study aimed to provide recommendations on appropriate starting age and intervals of endoscopic surveillance in adults with esophageal atresia. Methods Participants underwent standardized upper endoscopies with biopsies. Surveillance intervals of 3–5 years were applied, depending on age and histopathological results. Patient's age and time to development of (pre)malignant lesions were calculated. Results A total of 271 patients with esophageal atresia (55% male; median age at baseline endoscopy 26.7 (range 15.6–68.5) years; colon interposition n  = 17) were included. Barrett's esophagus was found in 19 (7%) patients (median age 32.3 (17.8–56.0) years at diagnosis). Youngest patient with a clinically relevant Barrett's esophagus was 20.9 years. Follow-up endoscopies were performed in 108 patients (40%; median follow-up time 4.6 years). During surveillance, four patients developed Barrett's esophagus but no dysplasia or cancer was found. One 45-year-old woman with a colon interposition developed an adenoma with high-grade dysplasia which was radically removed. Two new cases of esophageal carcinoma were diagnosed in patients (55 and 66 years old) who were not under surveillance. One of them had been curatively treated for esophageal carcinoma 13 years ago. Conclusions This study shows that endoscopic screening of patients with esophageal atresia, including those with a colon interposition, can be started at 20 years of age. Up to the age of 40 years a surveillance interval of 10 years appeared to be safe. Endoscopic surveillance may also be warranted for patients after curative esophageal cancer treatment. [ABSTRACT FROM AUTHOR]

Background Although the survival rate of esophageal atresia (EA) has increased to over 90%, the risk of functional long-term neurodevelopmental deficits is uncertain. Studies on long-term outcomes of children with EA show conflicting results. Therefore, we provide an overview of the current knowledge on the long-term neurodevelopmental outcome of children with EA. Methods We performed a structured literature search in Embase, Medline Ovid, Web of Science, Cochrane CENTRAL, and Google scholar on November 8, 2020 with the keywords 'esophageal atresia', 'long-term outcome', 'motor development', 'cognitive development', and 'neurodevelopment'. Results The initial search identified 945 studies, of which 15 were included. Five of these published outcomes of multiple tests or tested at multiple ages. Regarding infants, one of six studies found impaired neurodevelopment at 1 year of age. Regarding preschoolers, two of five studies found impaired neurodevelopment; the one study assessing cognitive development found normal cognitive outcome. Both studies on motor function reported impairment. Regarding school-agers, the one study on neurodevelopmental outcome reported impairment. Cognitive impairment was found in two out of four studies, and motor function was impaired in both studies studying motor function. Conclusions Long-term neurodevelopment of children born with EA has been assessed with various instruments, with contrasting results. Impairments were mostly found in motor function, but also in cognitive performance. Generally, the long-term outcome of these children is reason for concern. Structured, multidisciplinary long-term follow-up programs for children born with EA would allow to timely detect neurodevelopmental impairments and to intervene, if necessary. [ABSTRACT FROM AUTHOR]

Increasing numbers of children and adults with chronic disease status highlight the need for a value-based healthcare system. Patient-reported outcome measures (PROMs) are essential to value-based healthcare, yet it remains unclear how they relate to clinical outcomes such as health and daily functioning. We aimed to assess the added value of self-reported PROMs for health status (HS) and quality of life (QoL) in the long-term follow-up of children with foregut anomalies. We evaluated data of PROMs for HS and/or QoL among eight-year-olds born with congenital diaphragmatic hernia (CDH), esophageal atresia (EA), or congenital lung malformations (CLM), collected within the infrastructure of a multidisciplinary, longitudinal follow-up program. Clinical outcomes were categorized into different outcome domains, and their relationships with self-reported HS and QoL were assessed through multivariable linear regression analyses. A total of 220 children completed HS and/or QoL self-reports. In children with CDH and EA, lower cognition was significantly associated with lower self-reported HS. Due to the low number of cases, multivariable linear regression analysis was not possible in children with CLM. HS, QoL, and clinical outcomes represent different aspects of a child’s wellbeing and should be measured simultaneously to facilitate a more holistic approach to clinical decision making. [ABSTRACT FROM AUTHOR]

Background: Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. We hypothesized that defects disturbing foregut morphogenesis are responsible for this combination of malformations. Methods: We investigated the genetic variation of 15 patients with both EA and IHPS with unaffected parents using exome sequencing and SNP array‐based genotyping, and compared the results to mouse transcriptome data of the developing foregut. Results: We did not identify putatively deleterious de novo mutations or recessive variants. However, we detected rare inherited variants in EA or IHPS disease genes or in genes important in foregut morphogenesis, expressed at the proper developmental time‐points. Two pathways were significantly enriched (p < 1 × 10−5): proliferation and differentiation of smooth muscle cells and self‐renewal of satellite cells. Conclusions: None of our findings could fully explain the combination of abnormalities on its own, which makes complex inheritance the most plausible genetic explanation, most likely in combination with mechanical and/or environmental factors. As we did not find one defining monogenetic cause for the EA/IHPS phenotype, the impact of the corrective surgery could should be further investigated. [ABSTRACT FROM AUTHOR]

Introduction Anastomotic stricture formation is the most common postoperative complication after oesophageal atresia (OA) repair. The standard of care is endoscopic dilatation. A possible adjuvant treatment is intralesional steroid injection, which is thought to inhibit scar tissue formation and thereby to prevent stricture recurrence. We hypothesise that this intervention could prevent refractory strictures and reduce the total number of dilatations needed in these children. Methods and analysis This is an international multicentre randomised controlled trial. Children with OA type C (n=110) will be randomised into intralesional steroid injection followed by balloon dilatation or dilatation only. Randomisation and intervention will take place when a third dilatation is performed. The indication for dilatation will be confirmed with an oesophagram. One radiologist—blinded for randomisation—will review all oesophagrams. The primary outcome parameter is the total number of dilatations needed with <28 days’ interval, which will be analysed with a linear-by- linear χ2 association test. Secondary outcome parameters include the level of dysphagia, the luminal oesophageal diameter and stricture length (measured on the oesophagrams), the influence of comedication on stricture formation, systemic effects of intralesional steroids (cortisol levels, length and weight) and the cost-effectiveness. Patients will undergo a second oesophagram; length and weight will be measured repeatedly; a scalp hair sample will be collected; and three questionnaires will be administered. The follow-up period will be 6 months, with evaluation at 2–3 weeks, 3 and 6 months after the intervention. Ethics and dissemination Patients will be included after written parental informed consent. The risks and burden associated with this trial are minimal. The institutional review board of the Erasmus Medical Centre approved this protocol (MEC-2018–1586/NL65364.078.18). The results of the trial will be published in a peer-reviewed scientific journal and will be presented at international conferences. [ABSTRACT FROM AUTHOR]

Unlabelled: Pulmonary hypertension (PH) is a life-threatening disease with a high mortality rate and a broad variety of underlying etiologies. The current golden standard for diagnosing PH and monitoring efficiency of treatment is right heart catheterization. As an alternative, serum biomarkers have been suggested. Cardiac troponin T (TnT), brain natriuretic peptide (BNP), and NT-proBNP seem the most potential. The aim of this systematic review was to evaluate the current literature on the prognostic value of these biomarkers in children with PH and their usefulness as a diagnostic tool. A systematic literature search yielded 14 studies on patients ≤18 years with proven PH with (NT-pro)BNP or TnT as primary outcome. TnT is suggested to be a promising biomarker, but its usefulness in clinical practice has not been proven. The levels of (NT-pro)BNP seemed to be reliable within one PH category, but differed significantly between categories. NT-proBNP showed a good correlation with mortality and might have a prognostic value.Conclusion: The lack of absolute levels makes (NT-pro)BNP unsuitable as a diagnostic marker, but in view of the relative changes, it could be used to monitor patients. Further investigation should explore differences in normal (NT-pro)BNP levels between the different categories of PH.What Is Known: • Pulmonary hypertension is a life-threatening disease. Diagnosis can be challenging in children; the current diagnostic options-right heart catheterization and echocardiography-are invasive and/or investigator-dependent procedures. • Biomarkers could be useful in this context because they are investigator independent and easy to obtain through blood samples. Brain natriuretic peptide (BNP) and its N-terminal cleavage product (NT-proBNP) seem to be the most promising. The value of these biomarkers in the diagnostic approach of PH has already been investigated in adults, with promising results. Pediatric studies are still scarce. What is new: • The levels of BNP and NT-proBNP in pediatric patients differ strongly between the different categories of PH. Within the same category, the levels are more or less equal. • The relative changes could render them a prognostic marker in the follow-up of a certain individual patient. At this moment there is not enough evidence to rely on BNP or NT-proBNP in clinical treatment of patients with PH. [ABSTRACT FROM AUTHOR]

Aims Preconception care ( PCC) is care that aims to improve the health of offspring by addressing risk factors in the pre-pregnancy period. Consultations are recognized as a method to promote perinatal health. However, prospective parents underutilize PCC services. Uptake can improve if delivery approaches satisfy consumer preferences. Aim of this study was to identify preferences of women (consumers) as a first step to social marketed individual PCC consultations. Methods In depth, semi-structured interviews were performed to identify women's views regarding the four components of the social marketing model: product (individual PCC consultation), place (setting), promotion (how women are made aware of the product) and price (costs). Participants were recruited from general practices and a midwife's practice. Content analysis was performed by systematic coding with NVIVO software. Results The 39 participants reflected a multiethnic intermediately educated population. Product: Many participants had little knowledge of the need and the benefits of the product. Regarding the content of PCC, they wish to address fertility concerns and social aspects of parenthood. PCC was seen as an informing and coaching service with a predominant role for health-care professionals. Place: the general practitioner and midwife setting was the most mentioned setting. Promotion: A professional led promotion approach was preferred. Price: Introduction of a fee for PCC consultations will make people reconsider their need for a consultation and could exclude vulnerable patients from utilization. Conclusion This study provides consumer orientated data to design a social marketed delivery approach for individual PCC consultations. [ABSTRACT FROM AUTHOR]

Introduction: The growing population of survivors following pediatric surgery emphasizes the importance of long-term follow-up. The impact of surgical scars on daily life can be evaluated through patient-reported outcome measurements. The Stony Brook Scar Evaluation Scale (SBSES) and SCAR-Q questionnaire are two interesting instruments for this purpose. We evaluated their psychometric performance in Dutch children after pediatric surgery. Methods: After English-Dutch translation, we evaluated-following the COSMIN guidelines-the feasibility, reliability (internal and external), and validity (construct, criterion, and convergent) of the SBSES and SCAR-Q in Dutch patients < 18 years old with surgical scars. Results: Three independent observers completed the SB for 100 children (58% boys, median age 7.3 (IQR 2.5-12.1) years) in whom surgery had been performed a median of 2.8 (0.5-7.9) years ago. Forty-six of these children (61% boys, median age 12.1 (9.3-16.2) years) completed the SCAR-Q. Feasibility and internal reliability (Cronbach's alpha > 0.7) was good for both instruments. For the SB, external reliability was poor to moderate (interobserver variability: ICC 0.46-0.56; intraobserver variability: ICC 0.74). For the SCAR-Q, external reliability was good (test-retest agreement: ICC 0.79-0.93). Validity tests (construct, criterion, and convergent) showed poor to moderate results for both instruments. Conclusions: The Dutch-translated SBSES and SCAR-Q showed good feasibility and internal reliability. External reliability and validity were likely affected by differences in conceptual content between the questionnaires. Combining them would provide insight in the impact of scars on patients. Implementation of these instruments in longitudinal follow-up programs could provide new insights into the long-term psychological outcome after pediatric surgery.

The prevalence of Barrett's esophagus (BE) in adults born with esophageal atresia (EA) is four times higher than in the general population and presents at a younger age (34 vs. 60 years). This is (partly) a consequence of chronic gastroesophageal reflux. Given the overlap between genes and pathways involved in foregut and BE development, we hypothesized that EA patients have an intrinsic predisposition to develop BE. Transcriptomes of Esophageal biopsies of EA patients with BE ( n = 19, EA/BE); EA patients without BE ( n = 44, EA-only) and BE patients without EA ( n = 10, BE-only) were compared by RNA expression profiling. Subsequently, we simulated a reflux episode by exposing fibroblasts of 3 EA patients and 3 controls to acidic conditions. Transcriptome responses were compared to the differential expressed transcripts in the biopsies. Predisposing single nucleotide polymorphisms, associated with BE, were slightly increased in EA/BE versus BE-only patients. RNA expression profiling and pathway enrichment analysis revealed differences in retinoic acid metabolism and downstream signaling pathways and inflammatory, stress response and oncological processes. There was a similar effect on retinoic acid signaling and immune response in EA patients upon acid exposure. These results indicate that epithelial tissue homeostasis in EA patients is more prone to acidic disturbances.

Background: Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. We hypothesized that defects disturbing foregut morphogenesis are responsible for this combination of malformations., Methods: We investigated the genetic variation of 15 patients with both EA and IHPS with unaffected parents using exome sequencing and SNP array-based genotyping, and compared the results to mouse transcriptome data of the developing foregut., Results: We did not identify putatively deleterious de novo mutations or recessive variants. However, we detected rare inherited variants in EA or IHPS disease genes or in genes important in foregut morphogenesis, expressed at the proper developmental time-points. Two pathways were significantly enriched (p < 1 × 10 -5 ): proliferation and differentiation of smooth muscle cells and self-renewal of satellite cells., Conclusions: None of our findings could fully explain the combination of abnormalities on its own, which makes complex inheritance the most plausible genetic explanation, most likely in combination with mechanical and/or environmental factors. As we did not find one defining monogenetic cause for the EA/IHPS phenotype, the impact of the corrective surgery could should be further investigated., (© 2020 Wiley Periodicals, Inc.)