Bladder and bowel symptoms experienced by children with osteogenesis imperfecta / Sintomas urinários e intestinais apresentados por crianças com osteogênese imperfeita

Abstract Objective: 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. Method: 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. Results: 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. Conclusion: 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.

Resumo Objetivo: Estimar a prevalência e a apresentação de sintomas urinários, intestinais e urinários e intestinais combinados sofridos por crianças com osteogênese imperfeita e descrever o perfil sociodemográfico e clínico dessas crianças. Método: Foi realizado um estudo descritivo com uma amostra de conveniência de pares de pais-filhos de crianças treinadas para usar o banheiro com idades entre três e 18 anos. Os pares foram entrevistados utilizando três instrumentos: 1) o Questionário Sociodemográfico e Clínico; 2) o questionário Dysfunctional Voiding Scoring System; 3) os Critérios de Roma III juntamente com a Escala de Bristol para Consistência de Fezes. Os dados foram estratificados por variáveis sociodemográficas e clínicas e analisados com estatísticas descritivas. Resultados: Participaram do estudo 31 pares de pais-filhos, 38,7% (n = 12) crianças relataram sintomas intestinais, 19,4% (n = 6) relataram uma combinação de problemas urinários (como segurar e urgência miccional) e sintomas intestinais (como fezes duras ou evacuações dolorosas e fezes de grande dimensão). Não houve relatos de problemas urinários isolados. Entre as crianças, 16 (51,7%) eram meninas e 20 (64,5%) tinham entre 5 e 14 anos. O tipo mais prevalente de osteogênese imperfeita foi o III (n = 12; 38,7%) e 8 (25,8%) crianças relataram usar cadeira de rodas. Conclusão: Este é o primeiro estudo a examinar a prevalência e a apresentação de sintomas urinários, intestinais e urinários e intestinais combinados em crianças com osteogênese imperfeita e que mostra um perfil sociodemográfico e clínico preliminar dessas crianças. Nossa pesquisa é um passo importante com relação ao efetivo rastreamento, detecção e acesso ao cuidado e tratamento, principalmente para os profissionais de saúde que trabalham com esse grupo de pacientes tão frágeis.

Bladder and bowel symptoms experienced by children with osteogenesis imperfecta.

OBJECTIVE: 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. METHOD: 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. RESULTS: 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. CONCLUSION: 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.

Body Composition in Children and Adolescents with Osteogenesis Imperfecta.

OBJECTIVE: To use peripheral quantitative computed tomography to determine the cross-sectional area (CSA) of subcutaneous fat and muscle (fat CSA, muscle CSA) in transverse forearm scans in patients with osteogenesis imperfecta (OI). STUDY DESIGN: Fat and muscle CSA were quantified in 266 individuals (142 female) aged 5-20 years who had a diagnosis of OI type I, III, or IV and who had mutations in COL1A1 or COL1A2. Results were compared with those of 255 healthy controls. RESULTS: In a subgroup of 39 patients with OI type I, % fat CSA correlated closely with total body percentage fat mass as determined by dual-energy x-ray absorptiometry (R(2) = 0.69; P < .001). In the entire study cohort, muscle CSA adjusted for age, sex, and forearm length was lower in OI type I and III than in controls (P < .05 each), but fat CSA was similar between OI types and controls. No relationship between the type of disease-causing mutation in the COL1A1 or COL1A2 genes and fat CSA or muscle CSA was found. CONCLUSIONS: Children and adolescents with OI have low muscle size but a normal amount of subcutaneous fat at the forearm.

Evaluation of a Modified Pamidronate Protocol for the Treatment of Osteogenesis Imperfecta.

Intravenous pamidronate is widely used to treat children with osteogenesis imperfecta (OI). In a well-studied protocol ('standard protocol'), pamidronate is given at a daily dose of 1 mg per kg body weight over 4 h on 3 successive days; infusion cycles are repeated every 4 months. Here, we evaluated renal safety of a simpler protocol for intravenous pamidronate infusions (2 mg per kg body weight given in a single infusion over 2 h, repeated every 4 months; 'modified protocol'). Results of 18 patients with OI types I, III, or IV treated with the modified protocol for 12 months were compared to 18 historic controls, treated with standard protocol. In the modified protocol, mild transient post-infusion increases in serum creatinine were found during each infusion but after 12 months serum creatinine remained similar from baseline [0.40 mg/dl (SD: 0.13)] to the end of the study [0.41 mg/dl (SD: 0.11)] (P = 0.79). The two protocols led to similar changes in serum creatinine during the first pamidronate infusion [modified protocol: +2% (SD: 21%); standard protocol: -3% (SD: 8%); P = 0.32]. Areal lumbar spine bone mineral density Z-scores increased from -2.7 (SD: 1.5) to -1.8 (SD: 1.4) with the modified protocol, and from -4.1 (SD: 1.4) to -3.1 (SD: 1.1) with standard protocol (P = 0.68 for group differences in bone density Z-score changes). The modified pamidronate protocol is safe and may have similar effects on bone density as the standard pamidronate protocol. More studies are needed with longer follow-up to prove anti-fracture efficacy.

Tooth extraction socket healing in pediatric patients treated with intravenous pamidronate.

Osteonecrosis of the jaw (ONJ) has been described as a complication of bisphosphonate therapy in adults. In the present study, we did not find a case of ONJ among 278 pediatric patients who had received intravenous pamidronate during childhood or adolescence.

Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta.

OBJECTIVE: To evaluate the functional abilities and the level of ambulation during pamidronate therapy in children with moderate to severe osteogenesis imperfecta. STUDY DESIGN: Functional abilities, ambulation, and grip force were assessed in 59 patients (mean age, 6.1 years; range, 0.5-15.7 years; 30 girls) during 3 years of pamidronate treatment. Functional skills (mobility and self-care) were both assessed by using the Pediatric Evaluation of Disability Inventory. Ambulation level was assessed by using the modified Bleck score. For 48 patients, results after 3 years of pamidronate treatment could be matched to those of patients with similar age and disease severity who had not received pamidronate. RESULTS: Mobility and self-care scores increased during the study period (+43% and +30%, respectively). The average ambulation score changed from 0.8 to 1.9. Maximal isometric grip force increased by 63%. Mobility and ambulation scores and grip force measures were significantly higher than in patients who had not received pamidronate. The difference in self-care scores did not reach significance. CONCLUSION: This study suggests that cyclical pamidronate treatment improves mobility, ambulation level, and muscle force in children with moderate to severe osteogenesis imperfecta.

Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control.

OBJECTIVE: To study the relation between muscle force, bone mass, and metabolic control in patients with glycogen storage disease type (GSD 1). STUDY DESIGN: Distal radius bone mass and density were evaluated in 19 patients with GSD 1 (15 GSD 1a, 4 GSD 1b) by means of peripheral quantitative computed tomography. Grip force was quantified with a dynamometer. RESULTS: Height, weight, bone mass, and grip force were significantly decreased in the patients with GSD 1a, mainly as the result of low values in the poorly controlled subgroup. Boys had lower bone mass than girls. Patients with GSD 1b had higher values for bone mineral density in the trabecular compartment. In most of the study participants bone mass appeared to be adequately adapted to the mechanical requirements imposed by muscle contraction. However, 3 patients with GSD 1a had evidence for a low bone mass. CONCLUSIONS: In GSD 1, both reduced muscle strength and a direct disease effect can contribute to low bone mass. The quality of treatment is crucial to prevent disturbances in musculoskeletal development.