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Background/purpose: The aims were to present the framework for the development a condition-specific health-related quality-of-life (HRQOL) questionnaire for children with esophageal atresia (EA) and to describe HRQOL experiences reported by children and by their parents., Methods: Utilizing the well-established DISABKIDS methodology, standardized focus group discussions were held and transcribed. HRQOL experiences were identified, content analyzed and evaluated using descriptive statistics., Results: 30 families (18 children 8-17years, 32 parents of children 2-17years) participated in ten focus group discussions. 1371 HRQOL experiences were identified referencing social, emotional and physical aspects of eating and drinking (n=368), relationships with other people (n=283), general life issues; physical activity, sleep and general health (n=202), communicative/interactive processes of one's health condition (n=161), body issues (n=109), bothersome symptoms (n=81), impact of health care use/medical treatment (n=78), confidence in oneself and in the future (n=65) and difficulties because of concomitant anomalies (n=24). A basis of two age-related HRQOL questionnaires for children with EA (2-7years, 8-17years) was subsequently constructed., Conclusions: EA interacts with various aspects of the child's life. In addition to HRQOL issues of eating and drinking, social dimensions like relationships and interactions with other people seem to be prominent condition-specific HRQOL parameters. The settings for the development of the first condition-specific HRQOL questionnaires for patients with EA are established., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background: Esophageal atresia (EA) often leads to persistent symptoms and impaired respiratory function in adulthood. The role of peripheral airways in this impairment has not been previously investigated. Furthermore, asthma-like symptoms are common in these patients., Purpose: The purpose of this study was to investigate pulmonary outcome, including possible peripheral airway dysfunction, perhaps missed by conventional pulmonary function tests and to see if the diagnosis asthma was accurate., Methods: Twenty eight patients operated for EA in Gothenburg 1968-1983 answered a questionnaire regarding respiratory symptoms and underwent pulmonary function tests. Peripheral airway function was measured by multiple breath washout., Results: 22/28 (79%) patients had a history of respiratory symptoms. Abnormal peripheral airway function was found in 17 (61%) patients, while only 6 (21%) patients displayed values indicating central obstruction. Nine patients had restrictive disease. Airway hyperresponsiveness was frequent and associated with atopy and airway inflammation. However, respiratory symptoms or doctor-diagnosed asthma did not correlate with any specific lung function test abnormality., Conclusion: Different lung function abnormalities are present in EA survivors, and peripheral airway disease is common. Classical asthma seems to be difficult to diagnose in this patient group. Given the high prevalence of respiratory morbidity, long-term follow-up of pulmonary function, including peripheral airway function, is warranted., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Purpose: Megarectosigmoid (MRS) is commonly seen in children with anorectal malformations (ARM) and contributes to the high incidence of constipation. Surgical resection has been advocated by some, whereas others propose intense bowel management as the treatment of choice. The aim of this study was to evaluate outcome of both bowel function and configuration after surgical or conservative treatment of MRS in ARM patients., Materials and Methods: The study included 79 patients with ARM, excluding perineal fistula, (48 boys, 31 girls) from 1986 to 2007. MRS was diagnosed at colostomy formation or contrast enema performed in the neonatal period. Early in the period, the majority of the patients were treated surgically, whereas in the late 1990 s, a conservative approach with intensified bowel treatment was implemented. Contrast enema and bowel function investigations were performed repeatedly during follow-up., Results: MRS, according to radiological criteria, was diagnosed in 26/79 (33%) of the ARM children. Bowel functional outcome was similar regardless of surgical or conservative treatment and comparable to function in ARM children with non-MRS. The radiological signs of rectal dilatation and elongation disappeared after surgical intervention, but normalisation of the rectosigmoidal configuration was also seen with age in the conservative group., Conclusions: Bowel functional outcome in ARM children with MRS was similar after either surgical or conservative treatment during follow-up. The radiological signs of rectal dilatation and elongation disappeared also in the conservatively treated patients over time., (© 2014.)

Purpose: Longitudinal follow-up of changes in bowel function in children with anorectal malformations (ARMs) with or without spinal cord pathology and neurogenic bladder dysfunction (NBD) as they grow. Another purpose was to identify predictors influencing bowel functional outcome., Material and Methods: The study included 41 patients with ARM, excluding perineal fistula (21 boys and 20 girls). Bowel function was evaluated at ages 5, 10 and 15 years using a structured questionnaire and a three-week registration of number and time of bowel movements, episodes of fecal leakage and soiling. Additional bowel treatment with enemas and stool softeners and use of diapers were recorded. A group of 52 healthy boys and girls was used as control., Results: A successive improvement in functional outcome with age in children with ARM and normal spinal cord was seen with respect to continence, soiling and constipation. Continence was achieved earlier in girls than in boys (at 10 years: girls 80%, boys 36%). Soiling and constipation decreased with age both in grade and frequency (at 10 years low grade soiling: girls 53%, boys 64%). Boys with spinal cord malformation with NBD in combination with prostatic/bladder neck fistula (PRF/BNF) and sacral agenesis had the worst functional outcome with minimal possibility of improvement over time. Functional outcome in girls with NBD and tethered cord did not differ significantly from those without NBD and with a normal spinal cord. Psychosocial co-morbidity, neuropsychiatric disorders, developmental delay and megarectosigmoid were also risk factors impeding the functional outcome., Conclusion: In the present study there was a successive improvement in bowel function during childhood and adolescence in ARM children, but they did not achieve the level of healthy children. NBD, spinal cord malformation, sacral malformation and PRF all were negative predictive factors for bowel score at 5 years., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Purpose: Risk factors for the presence of neurogenic bladder dysfunction (NBD) in children born with high anorectal malformations (ARMs), were investigated, to identify the need for urodynamics in these patients., Material and Methods: The study included 37 patients with high ARMs (21 boys and 16 girls). Bladder function was evaluated with urodynamics both before and after anorectoplasty (posterior sagittal anorectoplasty [PSARP]). All patients were investigated with spinal radiograph. Spinal ultrasound was performed in the neonatal period, and magnetic resonance imaging was added in case of abnormal ultrasound or urodynamics and in case of cloacal malformation., Results: In ARM patients with rectourethral and vestibular fistulas and cloacas, NBD was identified in 9 children (25%). The bladder dysfunction was innate in all cases except in one girl with cloaca, indicating that the risk of iatrogenic denervation seems minimal using the PSARP technique. All children with innate NBD had a spinal cord malformation either as spinal cord regression or tethering with or without a lipoma. Concerning vertebral status, almost all children with NBD had partial sacral agenesis. Abnormal perineal appearance was highly correlated to NBD in boys, especially in those with a spinal cord regression malformation. Innate NBD was not found in any child with normal spinal cord., Conclusion: From these results, we suggest that spinal ultrasound and perineal inspection are used as screening procedures for NBD in children with ARM. Urodynamic investigation is recommended only when spinal cord anomalies or other signs indicative of NBD are present. In case of spinal cord malformation, repeated urodynamics during follow-up is mandatory because of the risk for developing tethered cord syndrome.