The moral experiences of children with osteogenesis imperfecta.

BACKGROUND: Serious ethical problems have been anecdotally identified in the care of children with osteogenesis imperfecta (OI), which may negatively impact their moral experiences, defined as their sense of fulfillment towards personal values and beliefs. RESEARCH AIMS: To explore children's actual and desired participation in discussions, decisions, and actions in an OI hospital setting and their community using art-making to facilitate their self-expression. RESEARCH DESIGN: A focused ethnography was conducted using the moral experiences framework with data from key informant interviews; participant observations, semi-structured interviews, and practice-based research (art-making) with 10 children with OI; and local documents. PARTICIPANTS AND RESEARCH CONTEXT: The study was conducted at a pediatric, orthopedic hospital. ETHICAL CONSIDERATIONS: This study was approved by McGill University Institutional Review Board. FINDINGS/RESULTS: Children expressed desires to participate in their care, but sometimes lacked the necessary resources and encouragement from healthcare providers. Art-making facilitated children's voice and participation in health-related discussions. CONCLUSIONS: Healthcare providers are recommended to consider the benefits of art-making and educational resources to reduce discrepancies between children's actual and desired participation in care and promote positive moral experiences.

The day-to-day experiences of caring for children with Osteogenesis Imperfecta: A qualitative descriptive study.

AIMS AND OBJECTIVES: To explore the day-to-day experiences of family caregivers who are caring for children with Osteogenesis Imperfecta (OI). BACKGROUND: Osteogenesis Imperfecta is a rare genetic condition known to cause bone fragility. Family caregivers of children with OI play an important role in helping these children live well at home. DESIGN: A qualitative descriptive design was used. METHODS: A qualitative descriptive study was conducted in accordance with the COREQ guidelines. Adult family caregivers (n = 18) of children with OI were recruited from a university-affiliated, paediatric orthopaedic hospital in Montreal, Canada. Individual interviews were conducted, transcribed verbatim and inductively thematically analysed. RESULTS: Osteogenesis Imperfecta family caregiving entailed: (a) managing regular day-to-day caregiving activities, including morning routines, evening routines and the facilitation of their child's mobilisation; (b) coping with periods that made the caregiving routine more challenging, such as fractures, surgeries and pain; and (c) devising long-term strategies to support day-to-day care, such as managing the environment, accessing medical and school resources, and coordinating care and respite. CONCLUSIONS: The day-to-day routine of caring for a child with OI may be disrupted by challenging periods and improved by long-term strategies developed to ease day-to-day care. These strategies suggest future directions for clinicians and policymakers to improve health services and caregiver well-being. RELEVANCE TO CLINICAL PRACTICE: Clinical, policy and research endeavours need to incorporate new interventions to support the needs of family caregivers. These recommendations may be relevant to other clinicians and policymakers working with families living with rare and chronic physical conditions.

Exploring the Views of Osteogenesis Imperfecta Caregivers on Internet-Based Technologies: Qualitative Descriptive Study.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic condition that can lead to frequent debilitating bone fractures. Family caregivers of children with OI face unique challenges in providing care, which may include limited access to information about the condition, feelings of distress, and experiences of social isolation. Internet-based technologies (IBTs) have been useful for supporting other types of caregivers. However, the views of OI caregivers on IBTs have not been explored. OBJECTIVE: This study aimed to explore the views of OI caregivers on the uses of IBTs to support them in caring for their children with OI. METHODS: A qualitative descriptive study was conducted. Caregivers of children with OI were recruited at a pediatric hospital in Montreal, Canada. Interviews were used to explore each caregiver's views on the applicability of IBTs in supporting their caregiving needs. The interviews were transcribed verbatim and thematically analyzed. RESULTS: A total of 18 caregivers participated. The caregivers shared that IBTs were useful for facilitating the following activities: daily activities of caregiving (such as providing physical care, supporting relationships, supporting self-care and hope, and managing the logistics of caregiving), OI medical information seeking, and OI social networking. However, they also revealed concerns about the health consequences of IBT use and the quality of IBT content. Concerns regarding IBTs varied somewhat with caregivers' geographies. Caregivers offered suggestions and strategies for how IBTs can be optimized for caregiving. CONCLUSIONS: Family caregivers of children with OI face unique challenges in providing care, which may include lacking access to information about the rare condition and feeling socially isolated. OI caregivers use IBTs to overcome some of these challenges and to support their specific caregiving needs. These findings contribute to the paucity of knowledge by offering varied IBT strategies to support caregiving activities, which may be beneficial for other caregivers. Participants' suggestions for IBT services can inform the development of new resources for OI caregivers and potentially for other caregivers of children living with rare conditions.

Validation of the Adolescent Pediatric Pain Tool for the Multidimensional Measurement of Pain in Children and Adolescents Diagnosed with Osteogenesis Imperfecta.

Background: The Adolescent Pediatric Pain Tool (APPT) is a self-reported, multidimensional assessment of pain location, intensity, and quality in children and adolescents. Yet, it has not been validated for use in children and adolescents with osteogenesis imperfecta (OI). Aims: This study aimed to validate and evaluate the feasibility of the APPT for pain assessment in children and adolescents with OI. Methods: A prospective observational study was conducted at a university-affiliated pediatric hospital in Canada. Thirty-three children and adolescents with OI participated by completing the APPT pre-bisphosphonate intravenous infusion and 1 week post-bisphosphonate intravenous infusion. Main outcomes were internal consistency, convergent and discriminative validity, and feasibility. Results: The Kuder-Richardson test of internal consistency was 0.863, 0.661, and 0.729 for the Sensory, Affective, and Evaluative subscales, respectively. For the entire pain quality scale, the Cronbach's alpha was 0.835. Regarding convergent validity, a moderate correlation was observed between the ratings on the pain intensity scale and the Faces Pain Scale-Revised (Spearman's rho = 0.711). Patients for whom pain was a problem reported higher pain intensity (Mann Whitney U = 41.50, P = 0.032) and more pain quality descriptors (Mann Whitney U = 45.50, P = 0.020) and painful body areas (Mann-Whitney U = 25.50, P = 0.001) than those for whom it was not (Mann-Whitney U, P < 0.05). In terms of feasibility, completing the tool may require a considerable time commitment and assistance from a clinician or parent, especially if the patient is experiencing pain and provides detailed pain location and quality information by completing the APPT. Conclusions: This study suggests that the APPT is valid for the multidimensional assessment of pain in children and adolescents with OI, but feasibility needs to be enhanced.

Contexte: L'outil d'évaluation de la douleur des adolescents en pédiatrie (APPT) est une évaluation multidimensionnelle auto-déclarée de l'emplacement, de l'intensité et de la qualité de la douleur chez les enfants et les adolescents. Toutefois, l'utilisation de cet outil auprès des enfants et des adolescents souffrant d'ostéogénèse imparfaite n'a pas encore été validée.But: Cette étude avait pour but de valider et d'évaluer la faisabilité de l'APPT pour l'évaluation de la douleur dans cette population.Méthodes: Une étude observationnelle prospective a été menée dans un centre hospitalier universitaire à vocation pédiatrique au Canada. Trente-trois enfants et adolescents atteints d'ostéogénèse imparfaite ont participé à cette étude en répondant à l'APPT avant l'infusion intraveineuse de bisphosphonate et une semaine après celle-ci. Les principaux résultats étaient la cohérence interne, la validation convergente et discriminante, et la faisabilité.Résultats: Le résultat du test de Kuder-Richardson pour mesurer la cohérence interne était de 0,863 pour le sensoriel, 0,661 pour l'affectif et 0,729 pour les sous-échelles d'évaluation. Pour l'échelle de qualité de la douleur au complet, l'indice alpha de Cronbach était de 0,835. En ce qui concerne la validation convergente, une corrélation modérée a été observée entre les scores obtenus à l'échelle d'intensité de la douleur et le FPS-R (Rho de Spearman= 0,711). Les patients pour lesquels la douleur était problématique ont fait état d'une intensité de la douleur plus élevée, ont eu recours à un plus grand nombre de descripteurs de la qualité de la douleur et ont identifié davantage de parties du corps douloureuses que ceux pour lesquels la douleur n'était pas problématique (Mann-Whitney U, p < 0,05). En ce qui concerne la faisabilité, le temps requis pour répondre au questionnaire peut être considérable et l'aide d'un clinicien ou d'un parent peut être nécessaire, particulièrement si le patient ressent de la douleur et donne de l'information détaillée sur la localisation et la qualité de la douleur en répondant à l'APPT.Conclusions: Selon cette étude, l'APPT est valide pour l'évaluation multidimensionnelle de la douleur chez les enfants et les adolescens souffrant d'oastéogénèse imparfaite, mais sa faisabilité doit être améliorée.

A Best Practice Initiative to Optimize Transfer of Young Adults With Osteogenesis Imperfecta From Child to Adult Healthcare Services.

PURPOSE: The aims of this study were (1) to review the current body of knowledge on the transition experiences of adolescents with osteogenesis imperfecta (OI) and appraise the evidence available on transfer summary tools, (2) to develop guidelines for the successful transition of adolescents with OI from child to adult healthcare services, and (3) to create a transfer tool tailored to adolescents with OI. DESIGN AND METHODS: This knowledge synthesis study was overseen by an interprofessional expert task force at Shriners Hospitals for Children-Canada and entailed (1) review of the literature, (2) development of guidelines, and (3) creation of a tool. RESULTS: The tool was created from evidence compiled from case reports, clinical examples, and nonexperimental studies. CONCLUSION: The transfer tool proposes guidelines designed to facilitate a smooth transition from child to adult healthcare services. It also offers creation of a clinically meaningful, person-focused, OI transfer tool that may in turn help improve the transition experience for adolescents. This study significantly contributes to the dearth of literature on transition experiences in OI and on transfer tools in general. Future research is needed to evaluate the implementation and evaluation of the OI transfer tool in practice.

Pain and quality of life of children and adolescents with osteogenesis imperfecta over a bisphosphonate treatment cycle.

The objective was to describe the pain and quality of life among children and adolescents with any osteogenesis imperfecta (OI) type over one intravenous bisphosphonate treatment cycle from a child and parental perspective. A prospective, observational study was conducted, where children and adolescents evaluated their pain intensity, location, and quality, as well as quality of life before, 1 week after treatment, and 6 months later. Quality of life was also evaluated from the parental perspective at the same three time points. Thirty-three child/parent dyads participated. The results showed that pain intensity on the 0-10 self-report scale after the Zoledronate infusion (median = 0, range = 0-6) was not different from pre (median = 2, range = 0-10) and 6-months post-scores (median = 2, range = 0-8) (p = 0.170). Children and adolescents with OI reported experiencing pain mainly in the ankles and the anterior and posterior shoulders. They selected evaluative pain descriptors such as uncomfortable (n = 16, 48%) and annoying (n = 13, 39%). Children and adolescents' functioning and quality of life did not change significantly across the bisphosphonate treatment cycle (p = 0.326), parents perceived an improvement immediately after the treatment compared to before (p = 0.016). CONCLUSION: Children and adolescents with OI experience mild, yet complex pain localized across several body areas. There is little fluctuation in the pain intensity and functioning of children with OI undergoing bisphosphonate treatment. What is Known: • Acute and chronic musculoskeletal pain remains a major issue in OI. • Pain has a negative impact on quality of life. What is New: • New and unpublished methods and findings describing the pain and quality of life of children and adolescents with OI over one intravenous bisphosphonate treatment cycle from a child- and parental-proxy perspective. • Children and adolescents with OI experience pain intensity that is mild, yet complex in quality and localized across several body areas.

Post-augmentation bladder perforation during urodynamic investigation.

AIMS: To report for the first time bladder rupture during filling cystometry many years after bladder augmentation. METHODS: A 17-year-old girl with T10 meningomyelocele had received an ileocystoplasty, continent catheterizable stoma, and bladder neck sling for neurogenic bladder dysfunction and intractable incontinence 8 years previously. She was continent with clean intermittent self-catheterization four times per day. Yearly urodynamics showed a bladder capacity of up to 700 ml with good compliance and low bladder pressures. In March 2006, filling cystometry was performed. RESULTS: Bladder pressure was normal until 400 ml, after which it increased due to lower compliance. At 620 ml filling, the detrusor pressure was 52 cm H2O, and the patient complained suddenly of abdominal discomfort and bilateral shoulder pain, and the infusion was stopped. A catheter was placed and cystography showed intraperitoneal leakage along the left lateral bladder aspect and at the Mitrofanoff insertion site on the bladder dome. The perforations were closed via a midline incision and a ventriculoperitoneal shunt had to be exteriorized. There were no post-operative complications and a control cystogram revealed no leakage. CONCLUSIONS: Augmentation ileocystoplasty has been used extensively in order to increase bladder capacity and decrease intravesical pressure. Although spontaneous or traumatic perforation of the augmented bladder has been described previously, it was never reported in correlation with urodynamic investigation. Extreme caution is warranted in the face of decreased compliance during filling cystometry in these patients, even though urodynamics showed good bladder compliance and low bladder pressures many years after ileocystoplasty.