Universidade de Brasília, Faculdade de Ciências da Saúde, Departamento de Enfermagem, Brasília, DF, Brazil.
McGill University, Medical School, Ingram School of Nursing, Montreal, Canada.
J Pediatr (Rio J). 2020 Jul-Aug;96(4):472-478. doi: 10.1016/j.jped.2018.12.008. Epub 2019 Feb 22.
To estimate the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms experienced by children with osteogenesis imperfecta and to describe the socio-demographic and clinical profile of these children.
A descriptive study was conducted with a convenience sample of parent-child pairs of toilet-trained children aged from 3 to 18 years. Pairs were interviewed using three tools: (1) Socio-Demographic and Clinical Questionnaire; (2) Dysfunctional Voiding Scoring System; (3) Rome III Criteria along with the Bristol Stool Scale. Data were stratified by socio-demographic and clinical variables and analyzed using descriptive statistics.
Thirty-one parent-child pairs participated in the study; 38.7% (n=12) children reported bowel symptoms, 19.4% (n=6) reported a combination of bladder issues (such as holding maneuvers and urgency) and bowel symptoms (such as hard or painful bowel movements and large diameter stools). There were no reports of isolated bladder issues. Among the child participants, 16 (51.7%) identified as female and 20 (64.5%) were 5-14 years old. The most prevalent type of osteogenesis imperfecta was type III (n=12; 38.7%) and eight (25.8%) children reported using a wheelchair.
This is the first study to examine the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms in children with osteogenesis imperfecta, offering a preliminary socio-demographic and clinical profile of these children. This research is an important step toward effective screening, detection, and access to care and treatment, especially for clinicians working with this group of very fragile patients.
评估患有成骨不全症儿童的膀胱、肠道和膀胱-肠道混合症状的流行率和表现，并描述这些儿童的社会人口统计学和临床特征。
本研究采用便利抽样法对 3 至 18 岁已接受如厕训练的儿童及其父母进行了描述性研究。使用以下三种工具对亲子对子进行访谈：（1）社会人口统计学和临床问卷；（2）排尿功能障碍评分系统；（3）罗马 III 标准和布里斯托粪便量表。根据社会人口统计学和临床变量对数据进行分层，并使用描述性统计进行分析。
共有 31 对亲子参与了研究；38.7%（n=12）的儿童报告有肠道症状，19.4%（n=6）报告同时存在膀胱问题（如憋尿和尿急）和肠道症状（如硬便或疼痛的排便和大直径粪便）。没有报告孤立的膀胱问题。在儿童参与者中，16 名（51.7%）为女性，20 名（64.5%）为 5-14 岁。最常见的成骨不全症类型是 III 型（n=12；38.7%），8 名（25.8%）儿童使用轮椅。
这是第一项研究成骨不全症儿童膀胱、肠道和膀胱-肠道混合症状的流行率和表现的研究，提供了这些儿童初步的社会人口统计学和临床特征。这项研究是实现有效筛查、检测以及获得护理和治疗的重要一步，特别是对于与这群非常脆弱的患者合作的临床医生。
