Caregiver perceptions of the impact of Dravet syndrome on the family, current supports and hopes and fears for the future: A qualitative study.

BACKGROUND: Dravet syndrome (DS) is a Developmental and Epileptic Encephalopathy (DEE) with onset typically in infancy. Seizures are pharmaco-resistant, and neurodevelopment is compromised in almost all children. There is limited data on the impact of the condition on the family, support needs and hopes and fears in Sweden. METHODS: Interviews were undertaken with the caregivers of 36 of 48 (75%) living children with DS in Sweden focusing on the perceived impact on the family, current supports and hopes and fears for the future. Data from the interviews were analyzed by two raters using reflexive thematic analysis. RESULTS: The analysis revealed seven main themes focusing on the perceived negative impact the disease has on caregivers and family functioning. These negative impacts concerned: caregiver sleep (e.g., frequent night waking), siblings (e.g., gets less attention/time), social life (e.g., limited vacations), family finances (e.g., limited career progression), parental health (both mental and physical) and need for constant supervision (e.g., child's need for constant supervision for fear of seizures). Another theme concerned the impact on family relationships. Whilst some caregivers perceived the impact to be negative (e.g., limited time for each other) others felt that having a child with DS lead to stronger relationships and more 'teamwork'. With respect to supports, the caregivers identified a number of areas where they felt the family could access appropriate supports. Themes regarding supports included: support from the wider family and friends, support from DS support groups (online or in-person), support from the child's hospital or disability service and respite care (e.g., child was looked after on weekends or had paid carers in the home). Regarding hopes and fears for the future, responses focused mainly on fears, including concerns about premature death of the child, transition to adult healthcare services and care arrangements for child when parents are dead. Hopes for the future included better treatment for epilepsy and associated neurodevelopmental problems and finding a cure for DS. CONCLUSIONS: Caregivers of children with DS report that the disease can have a very comprehensive negative impact on caregiver and family functioning. Identifying and providing the supports to ameliorate these negative impacts is vital to optimize caregiver and family wellbeing and quality of life.

Diagnosis, epilepsy treatment and supports for neurodevelopment in children with Dravet Syndrome: Caregiver reported experiences and needs.

BACKGROUND: Dravet syndrome is a rare infantile onset epilepsy syndrome encompassing treatment resistant epilepsy and neurodevelopmental difficulties. There is limited data regarding caregiver experiences of diagnosis, treatment and supports for the associated neurodevelopmental problems. METHOD: Semi-structured interviews were conducted with caregivers of 36/48 children (75% of total population in Sweden) with Dravet syndrome. Data was analysed using thematic analysis. RESULTS: Regarding the diagnostic experience, themes were: Delays in diagnostic process, genetic testing not optimal, communication of Dravet syndrome diagnosis and support and information soon after diagnosis. Caregivers felt that delays in diagnosis and testing could have been avoided whilst experiences of communication of diagnosis and support after diagnosis varied. In terms of treatment for seizures, the themes were: Satisfied with treatment, emergency treatment, treatment with antiseizure medications, strategies to control seizures via temperature regulation/avoidance of infections and use of equipment and aids. Caregivers were in the main accepting that seizures in Dravet syndrome are very difficult to treat and that seizure freedom is often an unachievable goal. Many felt frustrated that they were expected to take responsibility with respect to choice of medication. They often employed strategies (e.g., avoidance of physical activity) to reduce seizures or their impact. In terms of supports for neurodevelopmental problems, the themes were: Struggled to access support, lack of integrated healthcare and satisfaction with school. Many caregivers felt that accessing necessary supports for their children and developmental and behavioural needs was a struggle and that the provision of support often lacked integration e.g., lack of collaboration between child's disability service and school. Caregivers also expressed a desire that there would be better knowledge of Dravet syndrome in emergency departments and schools, that care would be better integrated and that there would be more supports for assessment and interventions regarding the associated neurodevelopmental problems. CONCLUSION: The responses of caregivers of children with Dravet syndrome highlight the need for supports from diagnosis for both epilepsy and neurodevelopmental problems. Good examples of provision were identified but parents often felt they lacked support and support often came from providers who lacked knowledge of the syndrome. Collaboration between medical, disability and school services was often lacking.

The Swedish PedsQL gastrointestinal symptoms scale and symptoms module showed good psychometric performance.

AIM: There is no validated symptom scale for Swedish children with gastrointestinal disorders. Our aim was to validate the Swedish version of the Paediatric Quality of Life Inventory (PedsQL) gastrointestinal symptoms scale and symptoms module. METHODS: Families were recruited from two hospitals in Gothenburg, Sweden, from 1 March 2021 to 31 October 2022. The instruments were completed by 115 children with functional, congenital or organic acquired gastrointestinal disorders and 149 of their parents. These were the gastrointestinal symptoms scales, symptoms module and the 4.0 Generic core scale. Data were analysed for feasibility, construct validity and reliability, including internal consistency, re-test reliability and child-parent agreement. RESULTS: Feasibility was good, with a failure to respond of ≤5%. Construct validity showed strong correlation in the PedsQL gastrointestinal symptoms module. The known-group validity agreed with the expectations associated with the disease characteristics (p < 0.05). Cronbach's alpha was 0.96, which indicated excellent internal reliability. The intraclass correlation coefficient for the child self-report and parent-proxy report was 0.74, which indicated good agreement. CONCLUSION: The Swedish PedsQL Gastrointestinal Symptoms Scales, the symptoms module provided acceptable measurement properties and can be used to evaluate symptoms of gastrointestinal disorders and quality of life during clinical work or research projects.

Mortality rates, cause and risk factors in people with spina bifida, register-based study over five decades.

AIM: Care for people with spina bifida can be improved. This may be done by evaluating mortality rates and causes of death. METHODS: Between 1973 and 2021, 1735 people with spina bifida appeared in registers of the Swedish population. Survival rates and causes of death were calculated according to age and decade. RESULTS: Over almost 50 years, the prevalence of spina bifida decreased from 5.2 to 1.2 per 10 000 births. Mortality fell sharply during the first year of life, with survival rising from 75% to 94%. For children aged 2-18 years and adults, mortality rates were low and differences between decades were minimal. Causes of childhood deaths were congenital abnormalities, hydrocephalus and infections, the latter two also in adults. Adult causes also included self-inflicted injuries and substance abuse, with suicidal or unclear intent, both more common than in the general population. Bladder malignancies were also more frequent, although after reconstructive bladder surgery, mortality rates were similar. CONCLUSION: Survival in the first year of life increased in children with spina bifida, whereas there was no difference in survival rates between adults born between 1973 and 1999. For adults, proactive prevention methods regarding self-inflicted injury, substance abuse and bladder cancer are warranted.

Linguistic and content validity of the Swedish version of the PedsQL™ gastrointestinal symptoms scales and symptoms module for paediatric patients.

AIM: To describe the process of linguistic and content validity of the Swedish version of the PedsQL™ Gastrointestinal Symptoms Scales and Symptoms Module, measuring health-related quality of life (HRQOL) in children with gastrointestinal (GI) disorders. METHODS: The establishment of linguistic and content validity was carried out in compliance with international standards on patient-reported outcome measurements. The process included forward translation, expert review and reconciliation, backward translation, backward translation review and interviews with 15 children aged 5-18 years with GI tract symptoms and 20 parents of children with GI tract symptoms aged 2-18 years. RESULTS: The Swedish version of the PedsQL™ Gastrointestinal Symptoms Scales and Symptoms Module (child report 5-18 years, parent report for children 2-18 years) was achieved without major difficulties. Eight issues needed discussion after forward translation, and there was one change after backward translation and three revisions following patient and parent testing. CONCLUSION: A conceptually equivalent Swedish language version of PedsQL™ Gastrointestinal Symptoms Scale and Symptoms Module for children aged 2-18 years old was developed. This enables improved HRQOL evaluations in children with GI disorders in Sweden. Future research using a larger sample is recommended to evaluate validity and reliability of the Swedish language version of the module.

Health-related quality of life among children, adolescents, and adults with bladder exstrophy-epispadias complex: a systematic review of the literature and recommendations for future research.

PURPOSE: Bladder exstrophy-epispadias complex (BEEC) is a rare spectrum of genitourinary malformations. Children risk long-term urinary and genital dysfunctions. To achieve a comprehensive understanding, this study aimed to review the literature on generic and disease-specific health-related quality of life (HRQOL) in BEEC patients, and methodologies used. METHODS: A literature search was conducted in Pubmed/CINAHL/Embase/PsycINFO/Cochrane, from inception to May 2018. A meta-analysis of HRQOL in BEEC patients compared to healthy references was performed. RESULTS: Twenty-one articles (published 1994-2018), describing HRQOL of children and adolescents (n = 5) and adults only (n = 5), or integrated age populations (n = 11), were identified (median sample size 24, loss to follow-up 43%, response rate 84%). Overall HRQOL was reduced in BEEC patients compared to healthy references in 4/4 studies. Impaired physical or general health in BEEC patients has been described in 9 articles, diminished mental health in 11, restricted social health in 10, and sexual health/functioning or body perception impairments in 13 articles. Urinary incontinence was the most common factor related to worse HRQOL (12 studies). In six studies, HRQOL was better than healthy norms. In eligible studies (n = 5), the pooled estimate of the effect of BEEC indicated worse HRQOL for children and adults (0 > effect sizes < 0.5). Thirty-six HRQOL assessments were used, none developed and validated for BEEC. CONCLUSIONS: HRQOL in BEEC patients may be negatively impacted, particularly considering mental and social HRQOL. Sexual health/functioning or body perception impairments may be present in adolescents and adults. However, HRQOL is heterogeneously assessed and subsequent findings are differently reported. Additional research is warranted and can be improved.

Agreement between mothers', fathers', and children's' ratings on health-related quality of life in children born with esophageal atresia - a German cross-sectional study.

BACKGROUND: Esophageal atresia (EA) is a rare congenital malformation, which is characterized by the discontinuity of the esophagus. We investigated the agreement between mothers', fathers', and children's' ratings on health-related quality of life (HRQOL) in children born with EA. We aimed to broaden the understanding of subjective experiences of HRQOL from different perspectives. We hypothesized that the agreement between mother and father ratings would be high, whereas the agreement between child and mother ratings as well as child and father ratings would show more substantial differences. METHODS: We obtained data from 40 families (23 mother-father dyads of children aged 2-7 years and 17 mother-father-child triads of children and adolescents aged 8-18 years) with children born with EA, who were treated in two German hospitals. HRQOL was measured using the generic PedsQL™ questionnaires and the condition-specific EA-QOL© questionnaires. We calculated intraclass coefficients and performed one-way repeated measures ANOVAs to analyze differences for each domain as well as for the total scores. RESULTS: Intraclass correlation coefficients (ICCs) indicated a strong agreement (≥.80) between mother and father reports of children's HRQOL for both generic and condition-specific measurements. The ICCs for the generic HRQOL for mother/father-child-dyads revealed only fair to good agreement, whereas ICCs for condition-specific HRQOL showed high agreement for mother-child and father-child-agreement. Analyses of Covariance revealed differences in mother/father-child agreement in the generic domain School, both parents reporting lower HRQOL scores than the children themselves. Fathers reported significantly higher scores in the condition-specific domain Social than their children. CONCLUSIONS: Results showed that mothers' and fathers' reports corresponded to each other. Nonetheless, these reports might not be interchangeably used because mother-child and father-child agreement showed differences. Children might know the best on how they feel, and parent proxy-report is recommended when reasons such as young age, illness, or cognitive impairments do not allow to ask the child. But parent-report - no matter if reported by mother or father - should only be an additional source to broaden the view on the child's health status and well-being. The current study contributes to a better understanding of the complex family relationships involved when parenting a child born with EA.

Health-related quality of life experiences in children and adolescents born with esophageal atresia: A Swedish-German focus group study.

BACKGROUND: Esophageal atresia (EA) is a rare malformation of the esophagus, which needs surgical treatment. Survival rates have reached 95%, but esophageal and respiratory morbidity during childhood is frequent. Child and parent perspectives and cultural and age-specific approaches are fundamental in understanding children's health-related quality of life (HRQoL) and when developing a pediatric HRQoL questionnaire. We aimed to increase the conceptual and cross-cultural understanding of condition-specific HRQoL experiences among EA children from Sweden and Germany and investigate content validity for an EA-specific HRQoL questionnaire. METHODS: Eighteen standardized focus groups (FGs) with 51 families of EA children aged 2-17 years in Sweden (n = 30 families) and Germany (n = 21 families) were used to explore HRQoL experiences, which were content analyzed into HRQoL domains. The Swedish HRQoL domains were analyzed first and used as framework to evaluate HRQoL content reported in the German FGs. HRQoL experiences were then categorized as physical, social, and emotional HRQoL burden or resource. RESULTS: One thousand nine hundred eight HRQoL statements were recorded. All nine EA-specific HRQoL domains identified in the Swedish FGs (eating, social relationships, general life issues, communication, body issues, bothersome symptoms, confidence, impact of medical treatment, and additional difficulties due to concomitant anomalies) were recognized in the FGs held in Germany, and no additional EA-specific HRQoL domain was found. The HRQoL dimensions referenced physical burden (n = 655, 34.5%), social burden (n = 497, 26.0%), social resources (n = 303, 15.9%), emotional burden (n = 210, 11.0%), physical resources (n = 158, 8.3%), and emotional resources (n = 85, 4.5%). CONCLUSION: This first international FG study to obtain the EA child and his or her parents' perspective on HRQoL suggests Swedish-German qualitative comparability of the HRQoL domains and content validity for a cross-cultural EA-specific HRQoL questionnaire. EA children make positive and negative HRQoL experiences, but prominently related to physical and social burden, which underlines appropriate follow-up care and future research.

The Esophageal-Atresia-Quality-of-life Questionnaires: Feasibility, Validity and Reliability in Sweden and Germany.

OBJECTIVES: Esophageal atresia (EA) is a rare malformation characterized of discontinuity of the esophagus, concurrent with or without a tracheoesophageal fistula (TEF). We report the feasibility validity and reliability of a condition-specific quality-of-life (QOL) tool for EA/TEF children, the age-adapted EA-QOL-questionnaires, when used in Sweden and Germany. METHODS: A total of 124 families of children with EA/TEF participated in the study; 53 parents completed the EA-QOL-questionnaire for children aged 2 to 7 years; 62 children/71 parents the EA-QOL-questionnaire for children 8 to 17 years. Feasibility was determined from the percentage of missing item responses. Based on clinical data and previously validated generic QOL-instruments (PedsQL 4.0, DISABKIDS-12), the final EA-QOL scores were evaluated against hypotheses of validity (known-groups/concurrent/convergent) and reliability (internal consistency/retest reliability of scores for 3 weeks). Significant level was P < 0.05. RESULTS: In the questionnaire for EA/TEF children aged 2 to 7 years, 16/18 items were completed with missing values <6% (range 0%-7.5%), and in the questionnaire for 8 to 17-year-olds, 24/24 child-reported items (range 0%-4.8%) and 21/24 parent-reported items (range 0%-7.0%). In both age-specific EA-QOL-questionnaires, desirable standards for known-groups and concurrent validity were fulfilled; digestive symptoms and feeding difficulties negatively impacted EA-QOL-Total-scores (P < 0.001), and as hypothesized, in 2 to 7-year-olds, respiratory symptoms decreased EA-QOL-Total-scores (P = 0.002). Correlations between the EA-QOL and generic QOL questionnaires supported convergent validity. Internal consistency reliability was satisfactory. The level of agreements of EA-QOL-scores between the field- and retest study were good to excellent. CONCLUSIONS: The overall psychometric performance of the EA-QOL-questionnaires for EA/TEF children is satisfactory and can enhance outcome evaluations in future research and clinical practice.

Macrophage Phenotype Is Associated With the Regenerative Response in Experimental Replacement of the Porcine Esophagus.

A porcine model for bridging circumferential defects in the intrathoracic esophagus has been developed in order to improve the treatment of children born with long-gap esophageal atresia. The aim of this study was to identify factors beneficial for tissue regeneration in the bridging area in this model and to describe the histological progression 20 days after replacement with a silicone-stented Biodesign mesh. Resection of 3 cm of intrathoracic esophagus and replacement with a bridging graft was performed in six newly weaned piglets. They were fed through a gastrostomy for 10 days, and then had probe formula orally for another 10 days prior to sacrifice. Two out of six piglets had stent loss prior to sacrifice. In the four piglets with the stent in place, a tissue tube, with visible muscle in the wall, was seen at sacrifice. Histology showed that the wall of the healing area was well organized with layers of inflammatory cells, in-growing vessels, and smooth muscle cells. CD163+ macrophages was seen toward the esophageal lumen. In the animals where the stent was lost, the bridging area was narrow, and histology showed a less organized structure in the bridging area without the presence of CD163+ macrophages. This study indicates that regenerative healing was seen in the porcine esophagus 20 days after replacement of a part of the intrathoracic esophagus with a silicone-stented Biodesign mesh, if the bridging graft is retained. If the graft is lost, the inflammatory pattern changes with invasion of proinflammatory, M1 macrophages in the entire wall, which seems to redirect the healing process toward scar formation.

Health-related quality of life among children, young people and adults with esophageal atresia: a review of the literature and recommendations for future research.

PURPOSE: Esophageal atresia (EA) is a rare congenital malformation requisite of surgical treatment. Survival rates have significantly increased in recent decades, but treated children are at risk of chronic morbidity. This study aims to review the literature on health-related quality of life (HRQOL) in patients with EA and describe the questionnaires used. METHODS: A literature search was conducted in Pubmed, Cinahl and PsycINFO, from inception to January 2015. A meta-analysis of studies investigating HRQOL in patients with EA compared to healthy references was performed. The effect size was calculated as Cohen's d. RESULTS: Twelve articles (published 1995-2014) describing HRQOL among children, young people and adults were identified. Only European studies were found, and these had variable sample sizes (8-128). Overall HRQOL was reported to be reduced in five of the seven studies that compared overall HRQOL with a healthy reference population. Impaired physical or general health was described in eight articles. In the meta-analysis, eight eligible studies provided 16 estimates of the effect of EA, six of which reached statistical significance for worse HRQOL (p < 0.05). Using Cohen's criteria, the pooled estimate of the effect of EA was small for overall and physical HRQOL, and <0.2 for the mental and social HRQOL components. Altogether, 15 different questionnaires were used, and none were condition specific for EA. CONCLUSIONS: Different findings are reported; however, this study suggests that patients with EA may have a reduced HRQOL. Moreover, HRQOL is not adequately measured in this group. Additional research is required.

Parents' experiences of communication with neonatal intensive-care unit staff: an interview study.

BACKGROUND: An infant's admission to a neonatal intensive-care unit (NICU) inevitably causes the parents emotional stress. Communication between parents and NICU staff is an essential part of the support offered to the parents and can reduce their emotional stress. The aim of this study was to describe parents' experiences of communication with NICU staff. METHODS: A hermeneutic lifeworld interview study was performed with 18 families whose children were treated in the level III NICU at a university hospital in Sweden. The interviews were analysed to gain an interpretation of the phenomenon of how parents in the NICU experienced their communication with the staff, in order to find new ways to understand their experience. RESULTS: Parents' experience of communication with the staff during their infant's stay at the NICU can be described by the main theme 'being given attention or ignored in their emotional situation'. The main theme derives from three themes; (1) meeting a fellow human being, (2) being included or excluded as a parent and (3) bearing unwanted responsibility. CONCLUSIONS: This study shows that parents experienced communication with the NICU staff as essential to their management of their situation. Attentive communication gives the parents relief in their trying circumstances. In contrast, lack of communication contributes to feelings of loneliness, abandonment and unwanted responsibility, which adds to the burden of an already difficult situation. The level of communication in meetings with staff can have a decisive influence on parents' experiences of the NICU. The staff should thus be reminded of their unique position to help parents handle their emotional difficulties. The organization should facilitate opportunities for good communication between parents and staff through training, staffing and the physical health care environment.

Parents' experiences with neonatal home care following initial care in the neonatal intensive care unit: a phenomenological hermeneutical interview study.

AIM: A descriptive study of parents' experiences with neonatal home care following initial care in the neonatal intensive care unit. BACKGROUND: As survival rates improve among premature and critically ill infants with an increased risk of morbidity, parents' responsibilities for neonatal care grow in scope and degree under the banner of family-centred care. Concurrent with medical advances, new questions arise about the role of parents and the experience of being provided neonatal care at home. DESIGN: An interview study with a phenomenological hermeneutic approach. METHODS: Parents from a Swedish neonatal (n = 22) home care setting were extensively interviewed within one year of discharge. Data were collected during 2011-2012. FINDINGS: The main theme of the findings is that parents experience neonatal home care as an inner emotional journey, from having a child to being a parent. This finding derives from three themes: the parents' experience of leaving the hospital milieu in favour of establishing independent parenthood, maturing as a parent and processing experiences during the period of neonatal intensive care. CONCLUSIONS: This study suggests that neonatal home care is experienced as a care structure adjusted to incorporate parents' needs following discharge from a neonatal intensive care unit. Neonatal home care appears to bridge the gap between hospital and home, supporting the family's adaptation to life in the home setting. Parents become empowered to be primary caregivers, having nurse consultants serving the needs of the whole family. Neonatal home care may therefore be understood as the implementation of family-centred care during the transition from NICU to home.

Parents' experiences of treatment and outcomes in high-grade vesicoureteral reflux in infants - One piece in the puzzle of VUR management?

INTRODUCTION: Countless papers have been published regarding the management and clinical outcome of vesicoureteral reflux (VUR), still no active treatment has been proven superior to another, regarding preserving renal function. When considering comparable treatment alternatives, qualitative research is needed to understand the parents' perspectives and preferences. OBJECTIVE: This study aims to describe the parents' experiences of infant high-grade VUR (hVUR) regarding continuous antibiotic prophylaxis (CAP), surgical intervention (SI), urinary tract infection (UTI) and renal damage. MATERIALS AND METHODS: We performed four randomized, semi-structured focus groups (FG) with 19 parents to 15 children (aged 1,5-6 years). All children had been diagnosed with hVUR at <8 months of age and treated with CAP (all groups) and SI (two groups). Discussions were recorded, transcribed and analysed to content. The sample size for the FGs was based on category saturation, which was confirmed through comparison analysis in multiple FGs. RESULTS: The FGs generated 2,897 parent-reported experiences, of which this study reports on 1,123, sorted into the abovementioned four themes and underlying categories. Negative experiences regarding CAP, such as stress regarding the daily intake and worries about long-term use and side effects, were abundant, whereas positive experiences were few. The experiences regarding SI were negatively affected by inadequate information and postoperative difficulties and positively by empathy, accurate information and adequate preparations. The increased risk of UTIs were described as a constant emotional stress causing restricted social activities, frequent visits to the hospital and challenges regarding urine-sampling. There was a common awareness of renal damage, but few experiences reflected any actual worry. DISCUSSION: The daily struggle with medications and monitoring for symptoms, concerns of future antibiotic resistance and a parental preference of SI have been documented in previous studies. FG methodology effectively collects data from several participants during the same occasion, the goal being to generate discussions that enable researchers to see the world from the participants' perspective. Since the management of infants with hVUR is still under debate, qualitative research can remind of valuable patient and parent perspectives. CONCLUSION: This study shows that CAP and the risk of UTI have non-negligible, everyday impact on family life, while renal damage seems of secondary importance. The concerns of surgical treatment are related to an isolated occasion, which can be optimized with proper care and improved preoperative preparations. Awareness of parents' experiences and preferences is helpful when managing children with hVUR.

Linguistic, Content and Face Validity of the Swedish Version of a Quality-of-Life Assessment for Children, Teenagers and Adults with Spina Bifida.

Spina bifida includes a spectrum of different neural tube defects. Myelomeningocele is the most serious type and is associated with a risk of paralysis and sensory dysfunction below the affected level, bladder/bowel dysfunction, brain dysmorphology, and impaired health-related quality of life (HRQoL). The aim of this study was to describe the establishment of linguistic, content and face validity of the Swedish version of a Quality-of-Life Assessment for children (QUALAS-C, n = 10 items), teenagers (QUALAS-T, n = 10 items) and adults with spina bifida (QUALAS-A, n = 15 items) based on the original US English versions. The process included close collaboration with the original instrument developer and complied with international standards on patient-reported outcome measurements. The procedure includes forward translation, expert and patient/parent review and reconciliation, back translation, back translation review and cognitive debriefing interviews with 16 people with spina bifida aged 8 to 33, providing them with the possibility of evaluating the clarity, adequacy, and comprehensiveness of QUALAS-C, QUALAS-T and QUALAS-A, respectively. The interviews lasted a median of 15 min (range 8-16) for QUALAS-C, 10 min (range 9-15) for QUALAS-T and 24 min (range 9-38) for QUALAS-A. Four main issues/topics needed attention and discussion after both the forward and back translation. Following the back translation review, all issues were resolved. The patient feedback revealed recognition of the HRQoL issues included in QUALAS, and also difficulties in understanding some questions. After the patients' evaluation, four items were reworded for clarity. No study participant reported a wish to add to or remove questions from QUALAS. Hence, the Swedish versions of QUALAS became conceptually equivalent to the original US English versions and achieved linguistic, content and face validity. While empowering the voices of people with spina bifida, these results also enable their HRQoL to be properly assessed in research and clinical care in Sweden and in international studies.

A Narrative Review of Patient-Reported Outcome Measures and Their Application in Recent Pediatric Surgical Research: Advancing Knowledge and Offering New Perspectives to the Field.

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.

The association of feeding difficulties and generic health-related quality of life among children born with esophageal atresia.

BACKGROUND: Children born with esophageal atresia experience feeding difficulties. This study investigates the association of feeding difficulties and generic health-related quality of life among children aged 2-7 and 8-17 years, born with esophageal atresia. METHODS: 108 families (n = 36 aged 2-7 years; n = 72 aged 8-17) answered a survey regarding difficulties in their child's mealtimes and a validated generic health-related quality of life instrument(PedsQL 4.0). Clinical data was collected from hospital records. The association of feeding difficulties and health-related quality of life was analysed trough Mann-Whitney U-test. Linear regression determined whether the number of concurrent feeding difficulties in the child decreased the health-related quality of life scores. P < 0.05 was considered significant. RESULTS: In children aged 2-7 and 8-17 years, to have a gastrostomy, to use a food infusion pump, need for energy-enriched food and eating small portions were respectively significantly associated with lower total health-related quality of life scores in the parent-reports (p < 0.05). Most of the feeding difficulties had a negative significant relationship with the domains of physical and social functioning. Additionally, in the older age group, long mealtimes and adult mealtime supervision were associated with lower scores in both child and parent reports. In both age groups, an increased number of feeding difficulties in the child decreased the total generic health-related quality of life scores (p < 0.01). CONCLUSION: Specific feeding difficulties are associated with low health-related quality of life among children with esophageal atresia. An increasing number of feeding difficulties is associated to decreasing health-related quality of life-scores. Further research is needed to understand these associations.

Prevalence of Mental Health Problems, Associated Factors, and Health-Related Quality of Life in Children with Long-Gap Esophageal Atresia in Sweden.

BACKGROUND: Children with long-gap esophageal atresia (LGEA) face a high risk of digestive and respiratory morbidity, but their mental health outcomes have not been investigated. We aimed to identify the prevalence of mental health problems in children with LGEA, associated factors and health-related quality of life (HRQOL). METHODS: Twenty-six children with LGEA aged 3-17 were recruited nationwide in Sweden. One of their parents and adolescents aged 11-17 completed information on the child's mental health (Strength and Difficulties Questionnaire), generic (PedsQL 4.0) and condition-specific HRQOL (EA-QOL). Parents gave information on current child symptomatology. Mental health level was determined using validated norms; abnormal≥90 percentile/borderline≥80 percentile/normal. Elevated levels were considered borderline/abnormal. Data were analyzed using descriptives, correlation and Mann-Whitney-U test. Significance level was p < 0.05. RESULTS: Twelve children with LGEA aged 3-17 (46%) had elevated scores of ≥1 mental health domain in parent-reports, whereas 2 adolescents (15%) in self-reports. In parent-reports, 31% of the children had elevated levels of peer relationship problems, with associated factors being child sex male (p = 0.037), airway infections (p = 0.002) and disturbed night sleep (p = 0.025). Similarly, 31% showed elevated levels of hyperactivity/inattention, and associated factors were male sex (p = 0.005), asthma (p = 0.028) and disturbed night sleep (p = 0.036). Elevated levels of emotional symptoms, seen in 20%, were related to swallowing difficulties (p = 0.038) and vomiting problems (p = 0.045). Mental health problems correlated negatively with many HRQOL domains (p < 0.05). CONCLUSIONS: Children with LGEA risk mental health difficulties according to parent-reports, especially peer relationship problems and hyperactivity/inattention, with main risk factors being male sex, airway problems and sleep disturbances. This should be considered in follow-up care and research, particularly since their mental health problems may impair HRQOL. LEVELS OF EVIDENCE: Prognosis study, LEVEL II.

The International Network on Oesophageal Atresia (INoEA) consensus guidelines on the transition of patients with oesophageal atresia-tracheoesophageal fistula.

Oesophageal atresia-tracheoesophageal fistula (EA-TEF) is a common congenital digestive disease. Patients with EA-TEF face gastrointestinal, surgical, respiratory, otolaryngological, nutritional, psychological and quality of life issues in childhood, adolescence and adulthood. Although consensus guidelines exist for the management of gastrointestinal, nutritional, surgical and respiratory problems in childhood, a systematic approach to the care of these patients in adolescence, during transition to adulthood and in adulthood is currently lacking. The Transition Working Group of the International Network on Oesophageal Atresia (INoEA) was charged with the task of developing uniform evidence-based guidelines for the management of complications through the transition from adolescence into adulthood. Forty-two questions addressing the diagnosis, treatment and prognosis of gastrointestinal, surgical, respiratory, otolaryngological, nutritional, psychological and quality of life complications that patients with EA-TEF face during adolescence and after the transition to adulthood were formulated. A systematic literature search was performed based on which recommendations were made. All recommendations were discussed and finalized during consensus meetings, and the group members voted on each recommendation. Expert opinion was used when no randomized controlled trials were available to support the recommendation. The list of the 42 statements, all based on expert opinion, was voted on and agreed upon.

Reliability and Validity of the Polish Version of the Esophageal-Atresia-Quality-of-Life Questionnaires to Assess Condition-Specific Quality of Life in Children and Adolescents Born with Esophageal Atresia.

Aim: This study reports the reliability and validity of the Polish version of the Esophageal Atresia Quality of Life (EA-QOL) questionnaires, which were originally developed in Sweden and Germany. Methods: A total of 50 families of children (23 aged 2 to 7, and 27 aged 8 to 17) with EA/TEF (esophageal atresia/tracheoesophageal fistula) participated in the study. The development and validation of the Polish version of the EA-QOL involved forward-backward translation of the survey items following the guidelines for cross-cultural translation, cognitive debriefing and evaluation of psychometric properties, including assessment of internal and retest reliability, linguistic validity, content validity, known-group validity and convergent validity. The medical records of patients and standardized questionnaires were used to obtain clinical data. The level of significance was p < 0.05. Results: The Polish versions of the EA-QOL questionnaires demonstrated strong linguistic and content validity, are slightly discriminative for esophageal and respiratory problems, but do not show convergent validity with the PedsQL 4.0 generic core scales. In terms of reliability, the internal consistency of the subscale and total scale of Polish versions as measured by Cronbach's alpha is good, and retest reliability is excellent. Conclusions: The Polish versions of the EA-QOL questionnaires meet most psychometric criteria that confirm the EA-QOL questionnaires' reliability and validity. This study enables application of these questionnaires in future research among children with EA in Poland and participation in international multicenter studies focusing on advancing knowledge of condition-specific QOL in this population. Future cross-cultural research using larger sample sizes is still needed to better address the relationship between condition-specific and generic QOL, as well as the discriminative ability of the EA-QOL questionnaires.