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 Perceived Self-management Needs of Young Adults With Osteogenesis Imperfecta.

PURPOSE: To explore the perceived self-management needs of young adults with osteogenesis imperfecta (OI) with the goal of optimizing the self-management and transitional care services. METHODS: A qualitative descriptive study was performed with young adults diagnosed with OI. Two semistructured interviews were conducted before and after their first appointment with a nurse practitioner in the adult healthcare settings (a new partnership initiated by the pediatric hospital). Data were transcribed and descriptively analyzed. RESULTS: Seven participants with OI types I, III, and IV were interviewed. Ages ranged from 23 to 34 years, and years since discharge from the pediatric hospital ranged from 3 to 10. Four themes emerged including (1) dropped in the jungle, with no one to call; (2) they do not know how to treat me; (3) I feel like I'm going to get back in the loop; and (4) self-managing what I know, how I know. CONCLUSIONS: Similar to other childhood-onset conditions, adolescents and young adults with OI require education and mentorship, and clinicians in the adult healthcare system need to be prepared and supported to receive them. Collective efforts are needed to improve the self-management and transitional care needs for young adults with OI.

Brittle bone disease.

Brittle bone disease is also known as osteogenesis imperfecta, Vrolik syndrome and Lobstein syndrome. The condition is not gender specific and is present in all cultures. As the name of the disease suggests, the bones of people who have it are brittle and prone to fracture.

Difficulties experienced by caregivers of patients diagnosed with osteogenesisimperfecta (OI): example of a hospital.

OBJECTIVE: To identify the difficulties experienced by medical caregivers of inpatients diagnosed with osteogenesisimperfecta. METHODS: The descriptive, cross-sectional study was conducted at a university hospital in western Turkey from April to May, 2012, and comprised relatives providing care to patients who were diagnosed with osteogenesisimperfecta and were being treated in the paediatric endocrinology unit. Data was collected via face-to-face interviews with patient relatives. The 35-itemquestionnaire had 16 open-ended and 19 close-ended questions. RESULTS: The mean age of the 46 caregivers was 35.52±6.65 years, and 43(93.5%) of them were mothers. All of them said they felt anxious (100%), while 44(95.7%) felt sad/sorrow, 41(89.1%) puzzled, 40(87.0%) nervous, 40(87.0%) frightened, 39(84.8%) disappointed, 29(63%) shocked, and 28(60.9%) depressed when they first heard the diagnosis. Overall, 26(56.5%) experienced physical, 45(97.8%) psychological, 45(97.8%) social, and 35(76.1%) economic changes and difficulties, while 24(52.1%) had no social support. Of all the patient relatives, 38(82.6%) were unable to obtain adequate information about the disorder from the healthcare team. CONCLUSIONS: Caregivers of patients diagnosed with osteogenesisimperfecta experienced psychological and social difficulties..

Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta.

BACKGROUND: Osteogenesis imperfecta (OI) is a group of genetic disorders of collagen biosynthesis, characterized by low bone density leading to fractures. Most patients exhibit functional impairment and require the aid of a caregiver. The aim of this study is to assess the quality of life (QoL) of caregivers of patients with OI. METHODS: In this cross-sectional study, a convenience sampling strategy was used to enroll adult caregivers of children and adolescents with OI who attended a referral center in southern Brazil. The WHOQOL-BREF instrument was used to assess QoL. RESULTS: Twenty-four caregivers of 27 patients (10 with type I, 4 with type III, and 13 with type IV OI) were included in the study. Eighteen caregivers were the patients' mothers, two had OI, and 22 cared for only one patient. Mean WHOQOL-BREF scores were 14.59 for the physical health domain, 13.80 for the psychological domain, 15.19 for the social relationships domain, and 12.87 for the environmental domain; the mean total QoL score was 14.16. QoL scores did not differ significantly according to patients' OI type or number of fractures. Economic status was not correlated significantly with QoL scores. CONCLUSIONS: QoL appears to be impaired in caregivers of patients with OI. Additional studies are required to confirm these findings and to ascertain which factors account for this phenomenon.

Osteogenesis imperfecta--multi-systemic and life-long disease that affects whole family.

Osteogenesis imperfecta or brittle bone disease, a heritable disorder of connective tissue, is the most common of the inherited disorders primarily affecting bone. There are approximately 400 individuals with OI in Croatia alone. It is estimated that twice that number is present, represented by individuals with mild OI in whom the diagnosis has not been made. Due to the relatively low number of patients in the general population, treating physicians have limited experience with this disease, either with children or adults. The basis of this disease in European populations is mostly the result of defects in the structure or processing of collagen type I, an important protein of the extracellular matrix of many tissues. Presently, molecular defects in 16 different genes have been discovered to result in at least one type of OI of which 14 are not COL1 mutation loci. Although fractures occurring with no injury or minor injury are the hallmark of OI, other non-mineralized tissues can be affected as well and the pathological changes can be present in skin, tendons, eyes, teeth and blood vessels. Clinical manifestations are very heterogeneous and numerous signs and symptoms such as blue sclera, deafness, abnormal teeth development, joint hypermobility, increased risk of hernias, capillary fragility, aneurysms etc. Although there is no cure for this disease, there are specific therapies that can reduce the pain and complications associated with OI. The purpose of this review is to provide a brief overview of the molecular basis of this disease, describe clinical presentations, as well as to present orthopaedic therapeutic modalities for the patients with OI.

Osteogenesis imperfecta types I-XI: implications for the neonatal nurse.

Osteogenesis imperfecta (OI), also called "brittle bone disease," is a rare heterozygous connective tissue disorder that is caused by mutations of genes that affect collagen. Osteogenesis imperfecta is characterized by decreased bone mass, bone fragility, and skin hyperlaxity. The phenotype present is determined according to the mutation on the affected gene as well as the type and location of the mutation. Osteogenesis imperfecta is neither preventable nor treatable. Osteogenesis imperfecta is classified into 11 types to date, on the basis of their clinical symptoms and genetic components. This article discusses the definition of the disease, the classifications on the basis of its clinical features, incidence, etiology, and pathogenesis. In addition, phenotype, natural history, diagnosis and management of this disease, recurrence risk, and, most importantly, the implications for the neonatal nurse and management for the family are discussed.

Osteogensis imperfecta and role of nurse in management.

Osteogenesis imperfecta (OI) is a rare but striking cause of bone fragility and fractures. It usually presents in children or young adults. Consider it in the differential diagnosis when a child presents with a history of recurrent fractures. Early detection can improve morbidity. Nurses, if have the knowledge of the disease, can protect the child in hospital and can educate parents appropriately how to take care the child.

[Nursing care of osteogenesis imperfecta child: implications for nursing practice. A review of the literature]. / Nursing del bambino affetto da osteogenesi imperfetta:implicazioni per la pratica infermieristica. Una revisione della letteratura.

This work provides a systematic review of literature, a careful analysis, synthesis and critical review, gathering the relevant findings and results of 20 clinical studies on Osteogenesis Imperfecta all with the ultimate goal of generating an overview of nursing assistance addressed to the child with this rare chronic disease. The works come from texts considered scientifically validated. The review will serve as a stimulus to improve nursing care and lead nurses to care conscious choices based on scientific evidence, as it is only by an experienced and experimental evidence that can rise to the optimal treatment for each patient (R. Iovine, 2000).

Cuidados de enfermería en pacientes con osteogénesis imperfecta. Estudio de un caso / Nursing care in patients with osteogenesis imperfecta. A case study

La osteogénesis imperfecta (OI) constituye, dentro del grupo de las displasias óseas, un conjunto de trastornos congénitos de las fibras de colágeno tipo I. Estas mutaciones generan un defecto bioquímico que se traduce en un complejo cuadro clínico: talla baja, deformidades óseas, osteopenia, problemas respiratorios y cardiovasculares, y dentinogénesis imperfecta. Las 3 líneas principales de tratamiento de la OI sobre las que se desarrollan los cuidados de enfermería son: a) prevenir y controlar las manifestaciones clínicas de la enfermedad, de manera que se favorezca el desarrollo normal del niño; b) promover la máxima independencia física, emocional y social del afectado, evitando la aparición de complicaciones, como fracturas y deformidades, y c) realizar educación sanitaria al afectado y su entorno, en particular los padres. El objetivo de este trabajo es proporcionar, a través del estudio de un caso clínico, los conocimientos básicos sobre esta patología de gran relevancia terapéutica debido a las graves deformidades y discapacidades asociadas

Osteogenesis imperfecta (OI) constitutes, within the group of bone dysplasias, a set of congenital disorders of collagen type 1 fibers. These mutations generate a biochemical defect that translates into a complex clinical picture: low stature, bone deformities, osteopenia, respiratory and cardiovascular problems, and dentinogenesis imperfecta. The 3 main lines of treatment for OI within which nursing care is developed are: a) to prevent and control the clinical manifestations of the disease, so that normal development of the child is encouraged; b) to promote maximal physical, emotional and social independence of sufferers, preventing the development of complications such as fractures and deformities, and c) to provide health education to sufferers and those in their environment, especially their parents. The aim of the present article is to provide, through a case study, basic knowledge this disease, which is of great therapeutic importance because of its severe associated deformities and disabilities

Osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a rare congenital disorder of collagen production that results in brittle bones and affects other body systems containing collagen. This article reviews the current body of knowledge about OI and the management of infants with the disorder. Relieving pain, reducing the incidence of new fractures, establishing adequate follow-up, and connecting parents with community resources are the goals of management during the neonatal period. A case study illustrates management and the discharge process.

El niño con osteogénesis imperfecta. Plan de cuidados / A child with imperfect osteogenesis. Treatment plan

Se exponen los cuidados de enfermería en el niño afectado de osteogénesis imperfecta. El plan de cuidados está dividido en tres partes fundamentales: en la primera se planifica el apoyo psicosocial a los padres, cuestión decisiva para lograr la aceptación del niño afectado de una grave enfermedad. En la segunda, se describen los cuidados físicos y psicológicos que deben recibir los pacientes con O.l. para evitar graves complicaciones que puedan suceder durante el desarrollo, cuidados dirigidos a la familia y a los profesionales que se vayan a ocupar de él. Finalmente en la tercera parte se administrarán al niño con O.I. los conocimientos y habilidades necesarios para una óptima socialización (AU)

[The child with osteogenesis imperfecta. Care plans]. / El niño con osteogenesis imperfecta. Plan de cuidados.

The authors state what is the nursing care to follow with a child affected by imperfect osteogenesis. This treatment is divided into three fundamental parts. In the first part, one plans out the psycho-sociological assistance the parents in question need in order to achieve their acceptance of a child suffering from a serious illness. In the second part, the authors describe the physical and psychological treatment which patients suffering imperfect osteogenesis should receive in order to avoid serious complications which can develop during their growth, treatment directed towards the family and the professional who shall care for this child. Finally in the third part, a child suffering imperfect osteogenesis shall receive the necessary knowledge and skills so that he/she can achieve maximum social integration.

El niño con osteogénesis imperfecta. Una enfermedad infrecuente pero importante / A child with imperfect osteogenesis: an infrequent but important disease

La O.I. es una enfermedad que se engloba en el grupo de las displasias óseas de carácter genético heterogéneo y cuyo defecto básico es una alteración en la síntesis de procolágeno I. Ello va a dar lugar a una importante fragilidad tanto de las estructuras esqueléticas como extraesqueléticas, ocasionando múltiples fracturas y deformidades. La ausencia de un tratamiento médico, quirúrgico u ortopédico, verdaderamente eficaz, hace que unos cuidados de enfermería correctamente planificados, adquieran vital importancia al conseguir evitar y disminuir las fracturas y deformidades derivadas de un inadecuado manejo de estos pacientes, contribuyendo por el contrario a que logren una integración en la sociedad en las mejores condiciones. Este es el primero de dos artículos en que dividiremos la enfermedad; en él se hará una descripción de la enfermedad. El segundo se dedicará exclusivamente a los cuidados de enfermería (AU)