Dataset Information

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

ABSTRACT:

Background

Pompe disease (PD) is a disorder of lysosomal glycogen storage. The introduction of enzyme replacement therapy (ERT) has shifted the focus of care from survival to quality of life. The presence of lower urinary tract symptoms (LUTS) and incontinence has not been previously described in children with PD.

Methods

Children with PD followed in the Duke Lysosomal Storage Disease Clinic completed a validated bladder control symptom score (BCSS) and additional questions regarding urinary tract infections (UTIs), giggle, and stress incontinence. Descriptive statistics were used to discriminate urinary symptoms between gender, age, and different types of PD.

Results

Sixteen of 23 children (aged 4-14 years) seen in our clinic participated. Seven were girls; ten had classic infantile PD, two atypical infantile PD, and four childhood presentation late-onset PD (LOPD). When stratified by PD subtype, median BCSS was worst for the classic PD subtype followed by atypical PD and LOPD. Daytime urinary incontinence accompanied by constipation was noted in six. Eight reported urinary incontinence with laughing: giggle incontinence in six and stress incontinence in two. Four girls reported a history of UTI. Longitudinal follow-up in 11 patients showed stable BCSS in six, improvement in three, and worsening in two. Worsening corresponded with changes in bowel function and improvement with increase in ERT dose or treatment of constipation.

Conclusions

LUTS and incontinence are common in children with PD with greater symptoms noted with infantile-type PD. Improved bowel function and increase in ERT dose may lead to improvements in BCSS.

SUBMITTER: Ajay D

PROVIDER: S-EPMC5059197 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Publications

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

Ajay Divya D McNamara Erin R ER Austin Stephanie S Wiener John S JS Kishnani Priya P

JIMD reports 20151105

<h4>Background</h4>Pompe disease (PD) is a disorder of lysosomal glycogen storage. The introduction of enzyme replacement therapy (ERT) has shifted the focus of care from survival to quality of life. The presence of lower urinary tract symptoms (LUTS) and incontinence has not been previously described in children with PD.<h4>Methods</h4>Children with PD followed in the Duke Lysosomal Storage Disease Clinic completed a validated bladder control symptom score (BCSS) and additional questions regard ...[more]

PMID: 26537578

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Project description:The International Consultation on Incontinence Questionnaire-Pediatric Lower Urinary Tract Symptoms (ICIQ-CLUTS) is a 12-item self-administered tool to screen lower urinary tract symptoms (LUTS) in children. The aim of this study is to translate and validate the ICIQ-CLUTS into Spanish (ICIQ-CLUTS-Sp) and to study its psychometric properties. The cross-cultural adaptation of the ICIQ-CLUTS was performed following international recommendations. The psychometric analysis of the ICIQ-CLUTS-Sp was carried out to determine the reliability, validity, and diagnostic accuracy in a sample of 155 children and parents who completed the Spanish version ICIQ-CLUTS. The reliability indicators for the ICIQ-CLUTS-Sp were excellent (Cronbach's alpha was > 0.8 and ICC > 0.9 both for children's and parents' versions). There was a high Pearson r > 0.6 and a high agreement level between children's and parents' answers (ICC > 0.6), except in 4 items. For parents, the standard error of measurement (SEm) was 0.41, and the minimal detectable change (MDC) was 1.14 points. In children, these results were 0.42 and 1.16 points, respectively. Cut-off points greater than 15 points in the parent version or 16 points in the children version have the highest sensitivity and specificity for detecting LUTS. Conclusion: The Spanish version of the ICIQ-CLUTS questionnaire is a valid, reliable, and diagnostically accurate instrument to identify cases of children with LUTS. Therefore, it can be used to screen for lower urinary tract symptoms in Spanish speaking children and/or parents, as well as to monitor the effects of interventions. What is Known: • Lower urinary tract symptoms in children should be assessed multimodally using minimally invasive diagnostic procedures. One way to do this is to use the questionnaire to differentiate these cases in paediatric patients. • A cross-cultural adaptation of the ICIQ-CLUTS questionnaire to Spanish has not yet been done. What is New: • Based on a comprehensive validation methodology, this study highlights that the ICIQ-CLUTSSp questionnaire has good psychometric properties.

Project description:BackgroundIn men aged above 50 yr, lower urinary tract symptoms (LUTS), benign prostate hyperplasia, and prostate cancer are common urological conditions. Current guidelines for general practitioners frequently recommend prostate-specific antigen (PSA) testing in patients with LUTS for the detection of prostate cancer.ObjectiveTo assess the performance of PSA, PSA density, and the Stockholm3 blood test for identification of prostate cancer among men with LUTS.Design setting and participantsIn this post hoc analysis of a population-based diagnostic trial (STHLM3, n = 58 588), 4588 men aged 50-69 yr, without previous prostate cancer, with International Prostate Symptom Score (IPSS) data, and having PSA ≥ 3 ng/mL were identified. Men with at least moderate LUTS, defined as an IPSS score of ≥8, were included. PSA density and Stockholm3 scores were calculated.InterventionParticipants underwent 10-12-core systematic prostate biopsies.Outcome measurements and statistical analysisThe primary outcome was significant prostate cancer (sPCa) defined as International Society of Urological Pathology (ISUP) grade ≥2. Logistic regression analysis adjusted for age and previous biopsy status was performed. The area under the receiver operating characteristic curve (AUC) was calculated, and decision curve analysis was performed.Results and limitationsOut of 4588 men, 1544 (34%) reported at least moderate LUTS. The median age was 64 yr, and 11% had undergone a previous prostate biopsy. The Stockholm3 test showed superior discrimination for sPCa to PSA density, which in turn showed superior discrimination to PSA (AUC 0.77 vs 0.70 vs 0.61, p < 0.02). Calibration of the Stockholm3 test was adequate. Performing biopsy only in men with PSA ≥5 ng/mL saved 64% of biopsies, but resulted in missing 52% of detectable sPCa. Recommending biopsy for men with PSA density ≥0.07 resulted in sparing 26% of biopsy procedures and delaying the diagnosis of 12% of sPCa cases, with a 6.1% risk of sPCa among unbiopsied men. Recommending men with Stockholm3 ≥ 0.11 for biopsy resulted in sparing 53% of biopsy procedures and delaying the diagnosis of 20% of sPCa cases, with a 5.1% risk of finding sPCa in unbiopsied men.ConclusionsPSA density and the Stockholm3 blood test were superior to PSA for the identification of prostate cancer among men with LUTS.Patient summaryIn this analysis of a large Swedish study, we find that the use of prostate-specific antigen (PSA) density or the Stockholm3 blood test instead of only PSA might improve the detection of prostate cancer among men with lower urinary tract symptoms.

Dataset Information

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

Background

Methods

Results

Conclusions

Publications

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

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