Spina Bifida Children Research Articles

Socioeconomic profile of families with spina bifida children in Turkey

BackgroundSpina bifida’s prevalence and incidence vary across geographical regions with sociodemographic characteristics and socioeconomic status of the populations having a significate influence over its epidemiology. This study aimed to outline the socioeconomic profile of families with spina bifida children, based on sociodemographic characteristics.MethodsBetween August and December 2022, 86 surveys completed by parents of children that underwent spina bifida repair in our institution were included in this analysis. The first part of the survey included questions based on sociodemographic characteristics. The second part of the survey was based on care provided by the families, regular follow-ups, participation in rehabilitation programs, and type of burdens perceived by the caregivers.ResultsA close look at the highest level of parent education showed that more than half of them were only middle school graduates. Occupational status in the perioconceptional period revealed that 77% of mothers were housewives/unemployed. 23% had a history of induced or spontaneous abortion. A high number of consanguine marriages were registered with 58% of the subjects being biologically related. 53% of the spina bifida children came from families with low household income. Only 15% of the spina bifida children had access to physiotherapy and 18% to rehabilitation programs.ConclusionsChildren with spinal dysraphism were more likely to come from families resulted from consanguineous marriages, with at least two children, low level of parent education and household income. Emotional and financial burden perceived by caregivers should be addressed in order to diminish the numerous challenges that this group of families encounter.

Intradetrusor botox injection and augmentation cystoplasty trends among spina bifida patients at US freestanding children's hospitals

Intra-detrusor botulinum toxin (Botox) injection is a minimally invasive alternative to augmentation cystoplasty in patients with refractory neurogenic bladder. Botox was first used for neurogenic bladder children two decades ago. However, there are no existing guidelines on indications or use among patients with spina bifida. Furthermore, there are little data regarding its use relative to bladder augmentation and patient volume on a national scale. We sought to investigate the contemporary trends of intra-detrusor Botox injection and augment cystoplasty in free-standing children's hospitals. We queried the Pediatric Health Information System database to identify spina bifida patients from 2016 to 2019 who underwent intra-detrusor Botox injection and augment cystoplasty based on CPT and ICD-10 codes. Total spina bifida population under care in the free-standing children's hospitals was estimated by all inpatient and ambulatory surgery encounters as denominators to calculate frequency by time for both intra-detrusor Botox injections and augmentation cystoplasty. In total, we included 1924 intra-detrusor Botox injections and 842 augmentation cystoplasties. 1413 (51.1%) patients were female. Median age at surgery was 10.0 (interquartile range 6.98-13.5) years. There was a significant increase in intra-detrusor Botox injection frequency (p<0.001). While there was an overall decreasing, but not significant, trend for augmentation cystoplasty, there was a significant increase in this procedure during the summer months compared to the rest of the year (p<0.001, Figure1). Sensitivity analysis using only first intra-detrusor Botox injection per patient demonstrated similarly significant increasing trend. Use of intra-detrusor Botox injection for the management of neurogenic bladder has significantly increased among patients with spina bifida while augmentation cystoplasty has slightly decreased, but not significantly. Over time, practice patterns for the treatments of neurogenic bladder among spina bifida children have favored minimally invasive Botox injections while augmentation cystoplasty use has not significantly changed.

Renal Outcomes and Predictors in Spina Bifida Children: A 10-year Review in Two Tertiary Hospitals

Objective: The study aims to determine long-term renal outcomes and their predictors in spina bifida (SB) children. Methods: A 10-year retrospective record review was conducted involving paediatric patients who were diagnosed with SB. Baseline data was recorded,including type of SB, level of spinal lesion, neurological sequelae (bladder, bowel incontinence, ability to walk), renal function and imaging findings (ultrasound, MCUG, DMSA). The socio-demographic characteristics were described using descriptive analysis. Multiple logistic regression analyses were used to determine the association between significant predictors for renal scarring and chronic kidney disease (CKD). Results: A total of 60 SB children with a mean age 11.8±3.8 years during data collection were recruited. Most of the lesions were at L5 and below. The majority were complicated by urinary (88.3%) and bowel incontinence (93.3%). Despite the majority performing clean intermittent catheterization (CIC), almost two-thirds had symptomatic urinary tract infections (UTI). One-third of them had both hydroureter and hydronephrosis. 50% of them were shown to have vesicoureteric reflux. Half of the cohort progressed to CKD. The odds of developing renal scarring were 8.3 times higher in females compared to males (p = 0.046). The presence of hydroureter and hydronephrosis on ultrasound was identified as a significant factor in the development of CKD (OR 3.8; 95% CI 1.239, 11.385). Conclusion: The presence of hydroureter and hydronephrosis were the predictors for the development of CKD, whereas female gender is associated with renal scarring.

The art of introducing clean intermittent catheterization: How families respond andadapt: A qualitative study.

Since its inception >50 years ago,clean intermittent catheterization(CIC) has become ubiquitous in managing lower urinary tract dysfunction in children. Emphasis has been on its impact on daily life, but little on its implementation and adjustment in families. The aim of the current study was to discover how families learned to implement and manage their child's CIC needs by interviewing caregivers, adolescents, and young adults about their experiences. Interviews were designed to uncover facilitators and barriers to beginning CIC to initiate potential improvements in a multidisciplinary approach. A semi-structured interview guide was developed and piloted initially to 12 families for validation. Between August 2018 and October 2019, 40 families (52 interviews of caregivers and patients >12 years) were then interviewed with open-ended questions interspersed with more specific ones to generate discussion. Transcripts were coded using Dedoose software to create a base list with emergent codes. Inductive and deductive methods were employed to generate themes. Consensus was reached during successive team meetings. Five major and several subthemes emerged regarding implementation of CIC by caregivers and patients learning CIC for the first time. THEME 1: Parental reaction to CIC: Caregivers described benefits of an adjustment period on learning their child's need for CIC. Prenatal information to caregivers of spina bifida children gave them time to mentally process the need for CIC. THEME 2: Ease of learning CIC: impact of age and gender: caregivers identified advantages of initiating CIC in infancy. Caregivers speculated CIC was physically easier in boys than girls due to meatus location. Developmentally ready children expressed a desire for independence and privacy as they learned to initiate CIC. THEME 3: The impact of additional caregiver support in learning and performing CIC: presence of multiple caregivers optimized learning and implementation of CIC. Having secondary caregivers available provided peace of mind and more flexibility in maintaining reliable CIC care. Patients learning CIC found it helpful to have a parent present at the teaching session. Occasionally, female caregivers reported feelings of anger and frustration when male caregivers were reluctant to be involved in catheterization, irrespective of their child's gender. THEME 4: Satisfaction with healthcare team's approach: The healthcare team's responsiveness to their learning needs affected how they mastered CIC. The healthcare team's teaching and reassurance helped build caregiver confidence. Developmentally appropriate children were able to learn self-catheterization when supported by the healthcare team. Patients learning self-CIC articulated having a supportive healthcare team was helpful with implementation. THEME 5: Effect of CIC on employment status relative to job changes, insurance, and daycare: implementing and performing CIC presented a spectrum of issues related to employment. Educating employers regarding CIC facilitated a caregiver's ability to both remain at work and administer to their child. Caregivers underscored the importance of adequate insurance when considering employment choices. Concerns about daycare availability affected caregivers' work schedules. It is anticipated this information will aid healthcare personnel to more effectively teach and initiate CIC in families, and in individuals learning for the first time. The findings should serve as the basis for conducting future patient satisfaction studies, which would determine the effectiveness and reproducibility of these approaches.

The correlation between the transverse rectal diameter and urodynamic findings in children with neurogenic bowel and bladder dysfunction.

BackgroundThe aim of this study was to examine the correlation between the transverse rectal diameter and urodynamic findings in children with neurogenic bowel and bladder dysfunction.MethodsBetween 2014 and 2022, we prospectively evaluated 81 consecutive spina bifida children with neurogenic bowel and bladder dysfunction (35 boys and 46 girls, mean age 9.5 ± 3.4 years). All patients underwent echosonographic measurement of transverse rectal diameter and urodynamic studies.ResultsWe found a strong negative correlation between transverse rectal diameter and maximum bladder capacity (r = −0.682, p < 0.001) and compliance (r = −0.690, p < 0.001). There was also a strong positive correlation between transverse rectal diameter and maximal detrusor pressure (r = 0.650, p < 0.001), leak point pressure (r = 0.793, p < 0.001), and PVR (r = 0.762, p < 0.001). In ROC analysis, transverse rectal diameter demonstrated good performance for distinguishing children with upper urinary tract deterioration, with an AUC of 0.857 (95% CI 0.761–0.953). A transverse rectal diameter ≥40 mm was 83.3% sensitive and 100% specific for the diagnosis of unfavorable urodynamic patterns.ConclusionThere is a correlation between the transverse rectal diameter and urodynamic findings in children with neurogenic bowel and bladder dysfunction. Ultrasonographically assessed transverse rectal diameter of ≥40 mm may be used as a risk factor for upper urinary tract deterioration (unfavorable urodynamic findings). We suggest the transverse rectal diameter echosonographic measurement use as an integral part of the diagnostic approach in children with neurogenic bowel and bladder dysfunction, as it can help decision-making while waiting for urodynamic testing.

PD02-03 THE UTILITY OF URODYNAMICS IN YOUNG CHILDREN WITH SPINA BIFIDA

You have accessJournal of UrologyCME1 May 2022PD02-03 THE UTILITY OF URODYNAMICS IN YOUNG CHILDREN WITH SPINA BIFIDA Ruthie Su, Rocio Goodman, Jennika Finup, Vinaya Bhatia, Ann Byrne, Walid Farhat, and Shannon Cannon Ruthie SuRuthie Su More articles by this author , Rocio GoodmanRocio Goodman More articles by this author , Jennika FinupJennika Finup More articles by this author , Vinaya BhatiaVinaya Bhatia More articles by this author , Ann ByrneAnn Byrne More articles by this author , Walid FarhatWalid Farhat More articles by this author , and Shannon CannonShannon Cannon More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002517.03AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Optimal urologic management for infants with spina bifida remains unclear. Since the goal of early UDS is to identify those at risk for upper tract injury, the Urologic Management to Preserve Initial Renal Function (UMPIRE) protocol calls for routine urodynamics (UDS) by 3 months old and annually for 5 years. However, pediatric UDS can be fraught for patients and families. We evaluate the utility of routine UDS in this retrospective study of children with spina bifida. METHODS: We included all infants with lipo- or myelomeningocele from 2015 - 2020. We recorded all ultrasound, voiding cystourethrogram (VCUG), and UDS results from birth to 3 years old per the UMPIRE protocol. Given poor inter-rater reliability in reading detrusor sphincter dyssynergia, we defined hostility on UDS as an end fill pressure >40 cm H2O in the absence of a detrusor contraction. Upper tract changes (UTC) were defined as any bilateral increase of ≥1 in Society of Fetal Urology (SFU) grade or unilateral increase of ≥2 in grade on either ultrasound or VCUG. Urinary tract infection (UTI) was defined as symptoms (fever or lower urinary tract symptoms), >100,000 cfu/mL of a single organism and >10 WBCs/hpf. We then determined if hostile UDS findings preceded UTC or UTI from birth to 3 years old. Fisher’s exact test was used to test the association between hostility on UDS and UTC or UTI. RESULTS: Twenty-seven infants were included; demographic, imaging and UDS findings are shown in the Table. In the first 3 years of life, 2 patients (7%) developed hostility on UDS while one had hostility from birth. Nine patients (33%) had a UTI, and 3 were febrile. Nine patients (33%) developed changes on RBUS, including 4 with new bilateral grade 2 or 3 hydronephrosis. Two patients (7%) developed bilateral VUR, 1 with bilateral grade 4 reflux. Of 16 patients (57%) with UTI or UTC, 15 (94%) did not have preceding hostile changes on UDS. Hostile UDS results, either evident initially or in the interval, were not significantly associated with UTC or UTI (p=0.57, p=0.24, respectively). Four patients who did not have routine UDS never had UTC or UTI. CONCLUSIONS: Routine UDS in the first 3 years of life did not predict development of UTC or UTI; even if hostile UDS patterns are observed, UTC or UTI may not occur. Further studies are needed to more precisely identify the subset of spina bifida children, if any, who benefit from routine UDS testing after birth. Source of Funding: None © 2022 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 207Issue Supplement 5May 2022Page: e36 Advertisement Copyright & Permissions© 2022 by American Urological Association Education and Research, Inc.MetricsAuthor Information Ruthie Su More articles by this author Rocio Goodman More articles by this author Jennika Finup More articles by this author Vinaya Bhatia More articles by this author Ann Byrne More articles by this author Walid Farhat More articles by this author Shannon Cannon More articles by this author Expand All Advertisement PDF DownloadLoading ...

VP21.14: Association between ambulatory skills in spina bifida children and corpus callosum white matter DTI analysis

VP21.14: Association between ambulatory skills in spina bifida children and corpus callosum white matter DTI analysis

The influence of bowel management on urodynamic findings in spina bifida children with detrusor overactivity and detrusor sphincter dyssynergia

To examine the effects of bowel management on urodynamic findings in spina bifida children with detrusor overactivity (DO) and detrusor sphincter dyssynergia (DSD). Between 2014 and 2019 we prospectively evaluated 39 consecutive spina bifida children with DO and DSD (18 (46.2%) boys and 21 (53.8%) girls, aged 4-16 years; mean age 9.5±3.7 years) who received bowel management and we treated their bowel dysfunction with an aim of alleviating the symptoms of constipation, preventing constant overdistension of the rectosigmoid, providing regular emptying of the colon and faecal continence. Bowel management included daily enema, laxative application and a special diet who was performed during 12 months. All children had undergone urodynamic studies before and after starting bowel management, with no changes in their urological treatment. Bowel management caused an increase in maximum bladder capacity from 183.0 (112.0-234.0) to 237.0 (165.0-298.0) (p<0.001). When maximal bladder capacity adjusted for age there was also significant increment (adjusted before 0.54 (0.47-0.64), adjusted after 0.75 (0.70-0.82), p<0.001). In addition, we observed a decrease in maximal detrusor pressure from 64.3 (49.0-77.0) to 46.4 (32.0-59.0) cm H2O (p<0.001) and an increase in bladder compliance from 3.0 (2.0-3.3) to 5.6 (3.9-6.6) ml/cm H2O (p<0.001). There was also significant reductions in leak point pressure from 62.0 (48.0-69.0) to 39.0 (30.0-43.0) cm H2O (p=0.001), and significant reductions in post-void residual volume (PVR) from 165.0 (128.0-187.0) to 98.0 (68.0-136.0) ml in our 13 patients who could achieve spontaneous voiding (p=0.001). Administering bowel management may be useful for bladder function and urodynamic findings in spina bifida children with DO and DSD. Therefore, bowel management should form an integral part of the treatment in spina bifida children with DO and DSD.

Central precocious puberty in spina bifida children: Guidelines for the care of people with spina bifida.

Children with spina bifida are at greater risk of developing central precocious puberty (CPP) compared to others. Therefore, early recognition and timely referral for further evaluation by a pediatric endocrinologist allows appropriate management that reduces the impact of CPP. This article discusses the diagnosis and management of CPP in children with spina bifida. This guideline was developed for SB Transition Healthcare Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida.

Complications and patient satisfaction with urethral clean intermittent catheterization in spina bifida patients: comparing coated vs uncoated catheters

Many types of catheters are available in market for clean intermittent catheterization (CIC). Each company claim superiority of their products, but strong evidence is lacking. To assess the complications due to CIC in spina bifida children and its possible relationship to hydrophilic-coated catheter (HCC) or uncoated catheters (UCCs), with a view to decrease catheter related complications, and improve patients experience and compliance. The authors retrospectively reviewed the spina bifida patients aged between 0 and 16 years, who had no surgical intervention, and were performing CIC urethrally for at least 6 months. General information was recorded from electronic patient record, followed by telephonic/outpatient interview. Patients were divided into two groups: UCCor HCC. Patients in both groups had also used catheter from the other group at times. This study recorded the type/size of catheter used, its duration, complications, and their possible relation to type of catheter. Carer/patients overall satisfaction was recorded on a scale of 1-10 and their preference about the type of catheter they wish. The data were analyzed using SPSS (P-value<0.05 as significant). One hundred one patients were included in the study: 53 UCC and 48 HCC. There was no significant difference between gender/associated conditions/age at start of CIC or duration of CIC. The mean time taken to perform the procedure was similar in both groups: UCC 9.7min vs HCC 8.8min. Difficulty in insertion was felt in 20, UCC 12 vs HCC 8 (P=0.15), recurrent UTIs UCC 12 vs HCC 17 (P=0.09), median patient satisfaction UCC 8/10 (3-10) and HCC 10/10 (7-10) (P=0.63). Request for change of catheter was made by 10 from UCC group to HCC vs none from HCC (P ≤ 0.05).When given a choice, 28/53 (52.8%) in UCC and none (0%) in HCC group (P ≤ 0.0001) preferred to change to the other type of catheter, mainly for convenience of use of the product. Per year per patient cost was UCC US$ 389 vs HCC US$ 2820. Many un-modifiable factors contribute to the outcome of CIC. Despite claims of superiority by manufactures of some catheters over others, strong evidence is lacking especially in children. This study has shown no difference in the complications between UCC and HCC. There is no significant difference in complication rates with urethral CIC in patients using either UCC or HCC. A significant majority would prefer to use HCC mainly because of convenience of use of the product though at a seven times higher cost.

Clean intermittent catheterization of spina bifida children: A review of literature

Clean intermittent catheterization of spina bifida children: A review of literature

Value of urodynamic findings in predicting upper urinary tract damage in neuro-urological patients: A systematic review.

The main goals of neurogenic lower urinary tract dysfunction (NLUTD) management are preventing upper urinary tract damage (UUTD), improving continence, and quality of life. Here, we aimed to systematically assess all available evidence on urodynamics predicting UUTD in patients with NLUTD. A systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement was performed in March 2017. Only neuro-urological patients assessed by urodynamics were included. Any outcome of upper urinary tract function were evaluated. Forty-nine studies (1 randomized controlled trial, 9 prospective, and 39 retrospective case series) reported urodynamic data on 4930 neuro-urological patients. Of those, 2828 (98%) were spina bifida (SB) children. The total number of adults was 2044, mainly having spinal cord injury (SCI) (60%). A low bladder compliance was found in 568 (46.3%) and 341 (29.3%) of the paediatric and adult population, respectively. Hydronephrosis (HDN) was detected in 557 children (27.8%) in 19/28 studies and 178 adults (14.6%), mainly SCI, in 14/21 studies. Nine out of 30 multiple sclerosis (MS) patients affected by HDN (16.8%) showed low compliance in 4/14 studies. Patients with SB and SCI have a higher risk of developing UUTD (mainly reported as HDN) compared to those with MS. Reduced compliance and high DLPP were major risk factors for UUTD. Although our findings clarify the mandatory role of urodynamics in the management of NLUTD, standardization and better implementation of assessments in daily practice may further improve outcomes of neuro-urological patients based on objective measurements, that is, urodynamics.

Efficacy of high intensity laser therapy in the management of foot ulcers: a systematic review.

[Purpose] The aim of this systematic review was to assess the efficacy of high intensity laser therapy (HILT) on wound surface area in patients with foot ulcers. [Methods] Four databases including PubMed, MEDLINE, the Cochrane library, and the Physiotherapy Evidence Database (PEDro) were searched up to the end of April 2018 to identify relevant studies. Studies were included if they met the following criteria: randomised controlled trial (RCT), assessed the efficacy of HILT in patients with foot ulcers, evaluated wound surface area, and written in English language with available full text. The PEDro scale was used to evaluate the quality of studies. [Results] A total of three RCTs met the inclusion criteria, with two studies of the efficacy of HILT in adult patients with diabetic foot ulcers and one in spina bifida children with neuropathic foot ulcers. According to the PEDro scale assessment, all three studies were rated as a fair quality. All studies found that HILT provided significantly better outcomes compared to sham laser or standard medical therapy. [Conclusion] This systematic review suggests that HILT is an effective modality for wound healing in patients with foot ulcers, but further large-scale studies are required to confirm its efficacy.

Comparison of Health-Related Quality of Life in Mothers of Children with Spina Bifida and Cerebral Palsy

Background Spina bifida (SB) is the most common abnormalities in neural tube defects in Iran. The aim of this study was to assess health-related quality of life in mothers of children with spina bifida and to compare their quality of life with mothers of children with cerebral palsy (CP). Materials and Methods Two-hundred and three mothers were recruited using the convenience sampling strategy in a cross-sectional study. Quality of life (QOL) in mothers was assessed using a validated Persian version of 36-item Short Form Health Survey questionnaire according to the different levels of Hoffer criteria and types of Spina Bifida of their children. Also, the quality of life of mothers in this study was compared with data on Iranian healthy women and Iranian mothers of children with cerebral palsy. Results This study showed that the Sf-36 scores were significantly different between mothers having Spina Bifida children of different levels of Hoffer criteria and Spina Bifida types in terms of mean of physical component summary and mental component summary scores of SF-36 (P 0.05). Conclusion This study indicated that mothers of children with Spina Bifida suffer from poor quality of life similar to mothers of children with cerebral palsy, and should create supportive strategies for the physical and psychological aspects of their quality of life.

The influence of antibiotic prophylaxis on bacterial resistance in urinary tract infections in children with spina bifida

BackgroundBacterial resistance to antibiotics is an increasingly threatening consequence of antimicrobial exposure for many decades now. In urinary tract infections (UTIs), antibiotic prophylaxis (AP) increases bacterial resistance. We studied the resistance patterns of positive urinary cultures in spina bifida children on clean intermittent catheterization, both continuing and stopping AP.MethodsIn a cohort of 176 spina bifida patients, 88 continued and 88 stopped using AP. During 18 months, a fortnightly catheterized urine sample for bacterial pathogens was cultured. UTIs and significant bacteriuria (SBU) were defined as a positive culture with a single species of bacteria, respectively with and without clinical symptoms and leukocyturia. We compared the percentage of resistance to commonly used antibiotics in the isolated bacteria in both groups.ResultsIn a total of 4917 cultures, 713 (14.5%) had a positive monoculture, 54.3% of which were Escherichia coli. In the group stopping AP, the resistance percentage to antibiotics in UTI / SBU bacteria was lower than in the group remaining on AP, even when excluding the administered prophylaxis.ConclusionStopping antibiotic prophylaxis for urinary tract infections is associated with reduced bacterial resistance to antibiotics in children with spina bifida.Trial registrationISRCTN ISRCTN56278131. Registered 20 December 2005.

Neuromonitoring in Neuromuscular Scoliosis

Neuromuscular disease was first described in 1836 by Conte and is accompanied by spine deformity in 60% to 75% of quadriplegic cerebral palsy children, 90% of spina bifida children (above the sacral level), and nearly 100% of Duchenne muscular dystrophy (DMD) children, who have not been treated with long term deflazacort glucocorticoid. Neuromuscular scoliosis (NMS) presents earlier than idiopathic scoliosis (IS), and is progressive because of the abnormal biomechanical loading of the spine due to muscular imbalance and asymmetrical, Heuter-Volkmann induced growth of immature spinal vertebrae. Anticipation is regarded by DiMeglio as a very successful method of managing NMS scoliosis, and while orthoses may be used indefinitely to treat children with mild cerebral palsy or alternatively to maximize the nonoperative management of sitting ability and postural care in children with severe scoliosis, bracing does not alter progressive neuromuscular deformities that are ≥ 20°. Iatrogenic spinal cord injury remains one of the most devastating complications of neuromuscular spine deformity surgery. The incidence of neurological complications in NMS scoliosis, varies from 0.5% to 4.6%, and is higher than that in IS (0.5% to 0.72%). Higher intraoperative blood loss that compromises spinal cord vascularity, in combination with distraction techniques, that are occasionally adopted to address the severest and stiffest n neuromuscular deformities, may account for this discrepancy.

Development and validation of a spina bifida-specific pediatric quality of life questionnaire: the Spina Bifida Pediatric Questionnaire, SBPQ.

Based on existing questionnaires and patient interview, a health-related quality of life (HRQoL) questionnaire in spina bifida (SB) children is created and validated, the Spina Bifida Pediatric Questionnaire (SBPQ). SB patients from the SB reference centre Ghent University Hospital, Belgium, with mental ability between 6 and 18years old and their parents were asked to participate in the study, together with a control group. Thirty-nine patients and parents answered the questionnaire once, 20 patients and their parents the test-retest. Thirty-five controls answered the questionnaire once, 34 controls and their parents the test-retest. The final questionnaire was retained when 3 consecutive patients approved all items. Visual clues were added for children with a mental ability below 10years of age. The test-retest showed a good to excellent agreement for child self-report in 5 domains (not for social functioning), for parent proxy report in all domains (6), for control self-report in 4 domains (not for domain home) and for control parent proxy report in all domains (5). Internal consistency reliability was good in child self-report and in parent proxy report, except for physical functioning in child self-report. There was parent-child agreement for 4 out of 6 domains. Regarding social and emotional functioning, QoL was rated lower by parents than by children themselves. A SB HRQoL questionnaire was developed and validated. Because of visual aid, this questionnaire can be used by both young children and adolescents.

Long-term outcome of transanal irrigation for children with spina bifida.

Experimental, prospective study. We evaluated the long-term clinical efficacy of transanal irrigation (TAI) and its effect on the quality of life of spina bifida children and their caregivers. Republic of Korea. Forty-four spina bifida pediatric patients with constipation, fecal incontinence or both, underwent a TAI program at our spina bifida clinic between December 2010 and October 2013. The children and their caregivers were evaluated using a self-administered questionnaire before TAI and at 3 months and 3 years after initiation of the program. Successful treatment outcome was achieved in 38 (86.4%) children after a mean follow-up duration of 33 months (range, 30-36). The mean number of fecal incontinence episodes per week, the number of diaper changes and the total time for bowel care per day before the program decreased at the latest follow-up examination from 7.3 to 0.4 (P<0.001), 1.6 to 0.2 (P<0.001) and 29.2 to 19.4 min (P=0.038), respectively. These results remained constant from short-term follow-up at 3 months to 3 years. Caregivers and children could go out more often (P=0.002), and the emotional impact of bowel care on caregivers decreased (P<0.001). The reported mean overall satisfaction with TAI was 8/10. The common adverse effect during TAI was abdominal discomfort (60.5%). We observed a sustained significant improvement in defecation symptoms and quality of life for 3 years in spina bifida children who underwent continuous TAI.

C677T mutation in methylenetetrahydrofolate reductase gene and neural tube defects: Should Japanese women undergo gene screening before pregnancy?

We analyzed the role of maternal C677T mutation in methylenetetrahydrofolate reductase (MTHFR) gene on spina bifida development in newborns. A total of 115 mothers who had given birth to a spina bifida child (SB mothers) gave 10 mL of blood together with written informed consent. The genotype distribution of C677T mutation was assessed and compared with that of the 4517 control individuals. The prevalence of the homozygous genotype (TT) among SB mothers was not significantly different from that among the controls (odds ratio [OR] = 0.65; 95% confidence interval [CI] = 0.31-1.25; P = 0.182), suggesting that MTHFR 677TT genotype in Japan is not associated with spina bifida development in newborns. The T allele frequency was not increased in SB mothers (34.8%) as compared to that of the control individuals (38.2%). Further, the internationally reported association between the two groups was found to be similar in all 15 countries studied except the Netherlands, where the TT genotype was found to be a genetic risk factor for spina bifida. For the prevention of affected pregnancy every woman planning to conceive has to take folic acid supplements 400 μg a day and the government is asked to take action in implementing food fortification with folic acid in the near future. In conclusion, it is not necessary for Japanese women to undergo genetic screening C677T mutation of the MTHFR gene as a predictive marker for spina bifida prior to pregnancy, because the TT genotype is not a risk factor for having an affected infant.

Home screening for bacteriuria in children with spina bifida and clean intermittent catheterization

BackgroundSignificant bacteriuria (SBU) and urinary tract infections (UTIs) are common in patients with spina bifida and neuropathic detrusor sphincter dysfunction. Laboratory agar plated culture is the gold standard to establish SBU. It has the disadvantage of diagnostic and subsequent therapeutic delay. Leukocyte esterase tests (LETs) and dip slides proved to be useful in the general populations to exclude SBU and UTI. The aim of this study was to evaluate the reliability of LET and dip slide in children with spina bifida without symptoms of UTI. The reliability in children with asymptomatic SBU was not studied before.MethodsIn one hundred and twelve children with spina bifida on clean intermittent catheterization LETs and dip slides were compared with laboratory cultures. Both tests and agar plated cultures were performed on catheterized urine samples. The hypothesis was that the home tests are as accurate as laboratory cultures.ResultsA SBU was found in 45 (40%) of the 112 laboratory cultures. A negative LET excluded SBU (negative predictive value 96%), while a positive LET had a positive predictive value of 72%. The false positive rate was 28%. Dip slide determination of bacterial growth had no added value, other than serving as transport medium.ConclusionsIn spina bifida children, leukocyte esterase testing can be used to exclude significant bacteriuria at home, while dip slide tests have no added value to diagnose or exclude significant bacteriuria.