The experiences of the families with children diagnosed with osteogenesis imperfecta: A Qualiative study in Turkey.

BACKGROUND: The diagnosis of osteogenesis imperfecta affects the whole lives of family members. This study aims to investigate the lived experience of families with children diagnosed with osteogenesis imperfecta. DESIGN AND METHODS: This study used a qualitative, phenomenological design. The study sample consisted of parents of the children who were followed up with the diagnosis of osteogenesis imperfecta in the pediatric endocrinology clinic in Turkey. In order to collect data, a semi-structured interview form was prepared, and data were collected by way of face-to-face interviews. The lived experience of families were analyzed using qualitative methods. The life experiences of the families were analyzed in depth using qualitative methods. RESULTS: In the study, six themes were identified, including having a child diagnosed with osteogenesis imperfecta, family process, life patterns, emotional dimension, social life, and economic dimension. The results revealed that parents did not know about the disease upon learning of the child's diagnosis. Parents stated that they experienced anxiety, disappointment, sadness, denial, and despair when they first learned about their children's diagnosis. They also indicated that having a child with osteogenesis imperfecta affected the whole family in physiological, psychological, and social aspects. CONCLUSION: Parents and children should be given information about the disease since the first diagnosis of osteogenesis imperfecta, and psychosocial support should be provided. Families that can not get sufficient psychosocial support experience difficulties in the medical and care management of the disease. PRACTICE IMPLICATIONS: Knowing and understanding the lived experiences of families living with osteogenesis imperfecta can guide the planning and implementation of quality nursing care processes.

Multimodal Pain Management of Children Diagnosed with Osteogenesis Imperfecta: An Integrative Literature Review.

OBJECTIVES: The objective of this literature review was to evaluate multimodal therapies and interventions that help prevent progression and manage pain in children with OI. DESIGN: A systematic review of literature utilizing PRISMA guidelines. DATA SOURCES: The Cumulative Index to Nursing and Allied Health Literature (CINAHL) Complete, PubMed, PsycINFO, UpToDate, and ProQuest Nursing & Allied Health Source. REVIEW/ANALYSIS METHODS: Existing literature on pain management in pediatric patients diagnosed with OI was reviewed and appraised. Fifteen studies met the criteria for review. RESULTS: Results indicated that therapies addressing pain management are most effective when they use a multimodal approach that promotes bone strength, psychological support, reduces the risk of fractures, increases bone stability, and maintains physiological function. Four multimodal treatments for pain management in children with OI were identified including bisphosphonate therapy, surgical intervention, physical therapy, and psychosocial support. CONCLUSIONS: Developing a finite understanding of the utilization of multimodal therapies to manage and treat pain can assist in engineering treatments that improve the quality of life for children diagnosed with OI.

Living with osteogenesis imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic condition characterised by increased bone fragility. Recurrent fractures, pain and fatigue have a considerable impact on many aspects of the life of a person affected with OI and their families. OBJECTIVE: To improve our understanding of the impact of OI on the daily lives of individuals and families and consider how the condition is managed so that support needs can be better addressed. METHODS: Semi-structured qualitative interviews (n = 56) were conducted with adults affected with OI, with (n = 9) and without children (n = 8), parents of children affected with OI (n = 8), health professionals (n = 29) and patient advocates (n = 2). Interviews were digitally recorded, transcribed verbatim and analysed using thematic analysis. RESULTS: Three overarching themes are described: OI is not just a physical condition, parenting and family functioning and managing the condition. Fractures, chronic pain and tiredness impact on daily life and emotional well-being. For parents with OI, pain, tiredness and mobility issues can limit interactions and activities with their children. Specialist paediatric health services for OI were highly valued. The need for more emotional support and improved coordination of adult health services was highlighted. CONCLUSIONS: Our findings allow a better understanding of the day-to-day experiences of individuals and families affected with OI. Supporting emotional well-being needs greater attention from policy makers and researchers. Improvements to the coordination of health services for adults with OI are needed and an in-depth exploration of young people's support needs is warranted with research focused on support through the teenage years.

Patient-reported experience of clinical care of osteogenesis imperfecta (OI) during the COVID-19 pandemic.

Background: Research on the effects of the COVID-19 pandemic on people with rare diseases is limited. Few studies compare healthcare throughout the progression of the ongoing pandemic. Aims: To assess the impact of the pandemic on individuals with osteogenesis imperfecta across two consecutive years, understand what challenges were encountered, and analyse the experience of remote consultation. Methods: An initial survey was distributed following the first lockdown in August 2020, and a second survey in April 2021. The surveys explored four themes- effects on therapy, alternatives to consultation, effect on mental health, and perceived risks of COVID-19. Results: In the 2020 survey, of the 110 respondents, 69 (63%) had at least one appointment delayed due to the lockdown, compared with 89 of the 124 respondents (72%) in 2021. Of the 110 respondents in 2020, 57 (52%) had a remote consultation, increasing to 92 of 124 (74%) in the follow-up survey. In the 2020 survey 63 of 91 respondents (69%) expressed anxiety due to lockdown, compared with 76 of 124 (61%) in 2021. The percentage of total respondents expressing a preference for remote consultation was 48% in 2020, increasing to 71% in 2021. Conclusions: The pandemic has had widespread effects on the mental and physical health of those with OI. These effects, alongside appointment delays, have increased as the pandemic progresses. Encouragingly, the increasing preference for remote consultation may indicate that this could be a viable long-lasting alternative to face-to-face appointments, especially for patients who previously traveled vast distances for specialist care.

Health-related quality of life in adults with osteogenesis imperfecta.

Patient-reported outcome measures (PROMs) are increasingly utilized as endpoints in clinical trials. The Short Form Health Survey-12 (SF-12v2) is a generic PROM for adults. We sought to evaluate the validity of SF-12v2 in adults with osteogenesis imperfecta (OI). Physical and mental health-related quality of life (HRQoL) were assessed in a large cohort of adults in a multicenter, observational, natural history study. Physical HRQoL scores were correlated with the Gillette Functional Assessment Questionnaire (GFAQ). We calculated sample sizes required in clinical trials with crossover and parallel-group designs to detect clinically meaningful changes in physical HRQoL. Three hundred and two adults with OI types I, III, and IV were enrolled. Physical HRQoL scores in the study population were lower than population norms. Physical HRQoL scores moderately correlated with GFAQ for OI types I and IV. We found no correlations between mental and physical HRQoL. From a clinical trial readiness perspective, we show that SF-12v2 reliably measures physical function in adults with OI and can be utilized in crossover trials to detect meaningful physical HRQoL changes with small sample sizes. This study shows that SF-12v2 can be used to measure changes in physical HRQoL in response to interventions in OI.

Trajetórias afetivo-sexuais de jovens e adultos com osteogênese imperfeita / Affective-sexual trajectories of young people and adults with osteogenesis imperfecta

O presente estudo tem como objetivo geral estudar as trajetórias afetivo-sexuais de jovens e adultos homens e mulheres com osteogênese imperfeita (OI). Considerando que a juventude é uma etapa da vida onde as relações de afetividade e sexualidade passam a ser mais significativas e onde a autonomia desses sujeitos é fundamental nessas relações. Trata-se de uma pesquisa de natureza qualitativa, o campo de pesquisa foi o ambulatório de osteogênese imperfeita do Instituto Estadual de Diabetes e Endocrinologista (IEDE). O método utilizado para a coleta de dados foi o de história de vida de 18 a 49 anos, com posterior análise temática proposta por Bardin. Foram convidados 16 jovens, dos quais quatro se recusaram a participar. Perfazendo um total de 12 entrevistas. Para os resultados emergiram quatro núcleos temáticos : 1) A Construção da masculinidade e da feminilidade no contexto da deficiência; 2) Dependência x independência: a questão da autonomia e suas implicações nas trajetórias afetivo-sexuais; 3) Vida afetiva, sexual e reprodução: entre medos e desejos; 4) O papel da internet e das redes sociais digitais na sexualidade das pessoas com osteogênese imperfeita. As conclusões deste estudo apontam para a necessidade de desconstruções dos padrões normativos impostos ao corpo; a superproteção por parte dos pais repercute negativamente nas relações afetivas e sexuais das pessoas com OI; as pessoas com OI tem dificuldade em conversar sobre sexualidade com os pais e com os profissionais de saúde; a internet acaba por se tornar uma ferramenta bastante utilizada para suprir a necessidade dessas informações; espaços coletivos de discussão com pessoas que enfrentam as mesmas questões são muito importantes; também verificou-se a necessidade de políticas públicas voltada para a sexualidade da pessoa com deficiência.

The present study sought to know the affective-sexual trajectories of young and adult men and women with osteogenesis imperfecta (OI). Considering that youth is a stage of life where the relationships of affection and sexuality become more significant and where the autonomy of these subjects is fundamental in these relationships. It is a qualitative research, the research field was the outpatient osteogenesis imperfect of the State Institute of Diabetes and Endocrinologist (IEDE). The method used for data collection was life history from 18 to 49 years, with subsequent thematic analysis proposed by Bardin. 16 young people were invited, of whom four refused to participate. Making a total of 12 interviews. For the results, four thematic groups emerged: 1) The construction of masculinity and femininity in the context of disability; 2) Dependency x independence: the question of autonomy and its implications for affective-sexual trajectories; 3) Affective, sexual and reproductive life: between fears and desires; 4) The role of the internet and digital social networks in the sexuality of people with imperfect osteogenesis. The conclusions of this study point to the need to deconstruct the normative standards imposed on the body; overprotection on the part of parents has a negative impact on the affective and sexual relationships of people with OI; people with OI find it difficult to talk about sexuality with parents and health professionals; the internet turns out to be a widely used tool to supply the need for this information; collective spaces for discussion with people who face the same issues are very important; there was also a need for public policies aimed at the sexuality of people with disabilitie.

Respiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalities.

Respiratory insufficiency is the leading cause death in people with osteogenesis imperfecta (OI). Adults with OI reported that respiratory symptoms negatively impacted psychosocial wellbeing and limited daily physical activities, irrespective of OI type, age, stature, or scoliosis. The impact of respiratory status on quality of life in this population warrants further investigation. PURPOSE: Respiratory insufficiency is the leading cause of mortality in osteogenesis imperfecta (OI), a heterogeneous group of heritable connective tissue disorders characterized by fractures, bone fragility, and scoliosis. There is little research on how respiratory health influences daily life in this population. This study explores the relationship between respiratory function and quality of life in adults with OI. METHODS: One hundred fifty-seven adults with OI completed the St. George's Respiratory Questionnaire (SGRQ) and provided demographic and health information through REDCap. SGRQ scores were compared to reference scores for the general population, and comparisons were made between OI type, presence of scoliosis, stature, and other factors such as age or comorbidities. RESULTS: Average age was 45.87 years (range 19-81). Respondents scored worse on average (32 ± 23) than the normative data (6 ± 1). Those with type I OI scored better than those with type IV (p = 0.002) or type III (p = 0.024). Total scores correlated with age, activity level, assistive device use, and presence of pulmonary or cardiac comorbidities but did not correlate with stature or degree of scoliosis. CONCLUSION: Respiratory symptoms negatively impact both psychosocial wellbeing in the OI population and limit daily physical activity. These limitations occur irrespective of their OI type, age, stature, or scoliosis and reflect the dramatic impact of respiratory status on quality of life for people with OI. Future studies should examine the etiology of respiratory insufficiency in this population so guidelines for management can be established.

Fatigue in adults with Osteogenesis Imperfecta.

BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability. The aim of this study is to investigate whether adults with Osteogenesis Imperfecta are significantly more fatigued than the normal population. METHODS: The Fatigue Severity Scale (FSS) was distributed by mobile phone application among 151 adult patients with different OI types. Results of the FSS in the OI group were compared with two control populations from America (n = 20) and the Netherlands (n = 113). RESULTS: Ninety-nine patients (OI type 1 (n = 72), OI type 3 (n = 13), OI type 4 (n = 14) completed the FSS questionnaire. The mean FSS score of this cohort was 4.4 and significantly higher than the control populations (2.3/2.9). 65% of our cohort reported at least moderate fatigue compared with 2 control populations from America and the Netherlands. CONCLUSION: Fatigue in patients with OI is a frequently encountered problem in our expert clinic but research into this topic is sparse. This pilot study is the largest study to date investigating fatigue in patients with OI and results have been compared with two control groups. The mean FSS score of 4.4 in the OI group indicates that people with OI are generally significantly more fatigued than the control population. Further evaluation of fatigue and its influencers in a larger group of OI patients is important for future management.

Gait Deviations in Children With Osteogenesis Imperfecta Type I.

BACKGROUND: Osteogenesis imperfecta (OI) is a congenital connective tissue disorder often characterized by orthopaedic complications that impact normal gait. As such, mobility is of particular interest in the OI population as it is associated with multiple aspects of participation and quality of life. The purpose of the current study was to identify and describe common gait deviations in a large sample of individuals with type I OI and speculate the etiology with a goal of improving function. METHODS: Gait analysis was performed on 44 subjects with type I (11.7±3.08 y old) and 30 typically developing controls (9.54±3.1 y old ). Spatial temporal, kinematic, and kinetic gait data were calculated from the Vicon Plug-in-Gait Model. Musculoskeletal modeling of the muscle tendon lengths (MTL) was done in OpenSim 3.3 to evaluate the MTL of the gastrocnemius and gluteus maximus. The gait deviation index, a dimensionless parameter that evaluates the deviation of 9 kinematic gait parameters from a control database, was also calculated. RESULTS: Walking speed, single support time, stride, and step length were lower and double support time was higher in the OI group. The gait deviation index score was lower and external hip rotation angle was higher in the OI group. Peak hip flexor, knee extensor and ankle plantarflexor moments, and power generation at the ankle were lower in the OI group. MTL analysis revealed no significant length discrepancies between the OI group and the typically developing group. CONCLUSIONS: Together, these findings provide a comprehensive description of gait characteristics among a group of individuals with type I OI. Such data inform clinicians about specific gait deviations in this population allowing clinicians to recommend more focused interventions. LEVEL OF EVIDENCE: Level III-case-control study.

Stress, Depression, and Quality of Life Among Caregivers of Children With Osteogenesis Imperfecta.

INTRODUCTION: The purpose of this study was to evaluate stress, depressive symptoms, and quality of life (QOL) among caregivers of children with osteogenesis imperfecta (OI) and to determine if associations exist with patient disease-related characteristics. METHODS: Psychosocial outcomes were evaluated in 33 caregivers of 31 patients with OI using the Pediatric Inventory for Parents (assessing stress), PedsQL Family Impact Module (assessing QOL), and Center for Epidemiologic Studies Depression Scale (assessing depressive symptoms). RESULTS: Higher levels of patient pain and lower patient physical functioning were significantly associated with both higher caregiver stress and poorer QOL (p < .05). Center for Epidemiologic Studies Depression Scale scores were not associated with patient pain or physical functioning. DISCUSSION: Parents caring for children with OI with higher levels of pain and/or lower physical functioning are at higher risk of suffering from increased stress and poorer QOL. Interventions should be developed to screen for and target these at-risk caregiver groups with resources and support.

Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review.

BACKGROUND: Osteogenesis Imperfecta (OI) is a rare genetic condition whose key characteristic is increased bone fragility. OI has the potential to impact upon all family members, making it important to consider the challenges families face, how they cope and their support needs as the affected individual moves from childhood through to adult life. OBJECTIVE: To conduct a mixed-methods systematic review investigating the experiences of families when a family member is affected with OI. METHODS: A systematic search of seven electronic databases, relevant patient organisation websites and reference lists was conducted. Data extraction was performed for all studies that met the eligibility and quality criteria. Results were synthesised following the principles of thematic analysis. RESULTS: One mixed-method, six qualitative and six quantitative studies were included in the review. Three overarching themes were identified through thematic analysis: Impact of OI on the psychosocial wellbeing of families, impact on family life and evolving roles and relationships. Fear of fractures and the uncertainty of when the next fracture will occur are key issues that permeate all areas of family life and impact upon all family members. CONCLUSION: The experiences, coping strategies and support needs of families affected by OI were highly variable and changed over time. Future research should address the need for adaptive health and education interventions that support all family members.

Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.

There is limited research which examines health concerns of individuals with osteogenesis imperfecta (OI). Discussion groups with leaders of the adult OI community identified a broad range of medical priorities beyond fractures and brittle bones. Our work underscores the need to include patient-reported outcomes in rare bone disease research. INTRODUCTION: Osteogenesis imperfecta (OI) is a rare genetic disorder affecting collagen protein leading to brittle bones and a number of other medical complications. To date, there is limited research which examines the life-long process of aging with this rare disease, much less the perspective of individuals with OI. METHODS: In order to explore and prioritize health concerns that adults with OI feel have been inadequately addressed in health care and research, investigators held discussions with leaders from the global adult OI community. The meetings were held in August 2017 at the 13th International Conference on OI in Oslo, Norway as part of the preconference seminar "Patient Participation in OI Research". Investigators were part of the Brittle Bone Disease Consortium (BBDC), a multicenter research program devoted to the study of OI, and their focus was on patient-reported outcomes (PRO). RESULTS: Participants noted that while fractures and brittle bones are the most common feature of OI, a number of body systems are under-studied in this disorder. They particularly emphasized breathing, hearing, and the effects of aging as primary concerns that researchers and physicians may not fully understand or address. Other areas included pain, gastrointestinal problems, mental health, nutrition, menopause/pregnancy, and basilar invagination. Participants also emphasized that they must be informed of study results. They underscored that outcome measures incorporated into future drug trials must look beyond fractures and consider the whole patient. CONCLUSIONS: This work will help guide the incorporation of PROs into the next phase of the BBDC Natural History Study of OI and underscores the importance of including PROs in the study of rare diseases.

Health-related quality of life in children with osteogenesis imperfecta: a large-sample study.

In this large-sample study, we demonstrated that osteogenesis imperfecta (OI) significantly impaired the quality of life (QoL) in children. Moderate/severe OI patients had worse QoL scores than patients with mild OI. Furthermore, the QoL for OI patients was correlated with the presence of pathogenic gene mutations. INTRODUCTION: Osteogenesis imperfecta (OI) is a hereditary disease characterized by multiple fragility fractures and progressive skeletal deformities. No detailed investigations about the quality of life (QoL) have been carried out in a large sample of patients with OI. We evaluated the QoL and its influencing factors in a large and well-characterized OI cohort. METHODS: We used a validated questionnaire of PedsQL 4.0 to evaluate the health-related quality of life (HRQoL) of children and adolescents with OI. We compared HRQoL among patients with OI types I, III, and IV. The relationship between HRQoL and pathogenic mutations in candidate OI genes was investigated. We also evaluated the influencing factors of HRQoL in OI patients. RESULTS: A total of 138 children with OI and 138 healthy controls were enrolled in this study. The HRQoL scores of OI patients were 64.4 ± 30.0, 71.9 ± 22.2, 75.7 ± 24.8, 63.7 ± 24.5, and 68.9 ± 22.0 in physical, emotional, social, school functioning, and total score, respectively, which were significantly lower than those of healthy children (86.5 ± 12.7, 83.3 ± 16.0, 92.1 ± 11.8, 87.5 ± 11.8, and 87.3 ± 10.7, all p < 0.01). Moderate and severe OI (type III/IV) patients had poorer HRQoL scores than patients with mild OI (type I). Gene mutations inducing qualitative defects in type I collagen led to worse HRQoL scores than those with quantitative defects in type I collagen, except in emotional functioning. The total HRQoL score was positively correlated with family income, lumbar, and femoral bone mineral density (BMD) Z-scores and negatively correlated with disease severity and fracture frequency. CONCLUSION: HRQoL was significantly impaired in OI patients, and patients with more severe OI had poorer HRQoL scores. For the first time, we found that children with qualitative defects in type I collagen had poorer HRQoL scores than those with quantitative defects in type I collagen.

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.

Temporomandibular disorders and psychosocial status in osteogenesis imperfecta - a cross-sectional study.

BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by a number of deviations in the orofacial region. The aims of the present study were to investigate the occurrence of temporomandibular disorders, to evaluate the psychosocial status, and to assess the dental occlusion in a population of adult OI patients. METHODS: Participants (n = 75) were classified with mild OI, type I (n = 56), or moderate-severe OI, type III and IV (n = 19). OI patients were examined according to the Research Diagnostic Criteria for Temporomandibular Disorders (axis I and II). RESULTS: Temporomandibular disorders and functional limitations in the orofacial region were rare and did not differ between patients with mild and moderate-severe OI (P > 0.050). No significant differences between Graded Chronic Pain Scale grades 0, 1, and 2 were found in mild OI vs. moderate-severe OI (P > 0.160). Few patients (16%) had signs of depression, but close to half (48%) had signs of somatization. Patients with moderate-severe OI had a lower mean number of teeth compared to patients with mild OI (P <  0.050). In general, malocclusions were prevalent, and mandibular overjet and posterior cross-bite were found more often in moderate-severe OI compared with mild (P <  0.050). CONCLUSIONS: Patients with moderate-severe OI had more malocclusions than patients with mild OI. The psychosocial status of OI patients was remarkably healthy considering the severity of this disabling systemic disorder. The bodily pain complaints frequently reported in OI patients were not largely reflected in the orofacial area as painful temporomandibular disorders.

Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™.

BACKGROUND: Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy and physical therapy, as well as specific daily care practices. In addition, they have an increased incidence of fractures, which require immobilization and cause severe discomfort and short-term disability. This study evaluated the health-related quality of life of children and adolescents with OI in two reference centers for OI treatment in southern Brazil. METHODS: In this prospective cross-sectional study, the Pediatric Quality of Life Inventory (PedsQLTM) was applied in two university-affiliated reference centers for OI treatment in southern Brazil. Children and adolescents aged ≥ 5 years with clinical diagnoses of OI were included. Clinical data and socioeconomic status was evaluated. RESULTS: The sample consisted of 52 children and adolescents with OI (aged 5-17 years); 26 (50%) participants with type I OI, 13 (25%) type IV, 12 (23.1 %) type III, and 1 (1.9%) type V OI. Physical and social functioning domains differed significantly according to clinical presentation of OI with lowest scores in the severe type (OI type III). Pain seems to be the variable that is most associated with impact on the PedsQL domains. CONCLUSIONS: Overall, this study revealed differences in physical functioning and social functioning in relation to OI clinical presentation. These results reinforcing the importance of the clinical management of these patients with the aim of functional improvement and importance of pain control.

Family experience with osteogenesis imperfecta type 1: the most distressing situations.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by decreased bone mass and increased bone fragility. Despite increasing research on the biomedical aspects of the disease, only a few studies focus on the psychosocial implications of living with OI. This study aimed to explore the situations that are perceived by OI type-1 children, their parents and siblings, as being the most distressing and stressful in their experience with the disease. METHODS: Seven families of children diagnosed with OI type 1 for longer than four years participated. An in-depth semistructured interview with open-ended questions was used to separately collect each participant's (mother, father, patient and sibling) subjective report of their experience. Interviews were audiotaped and a qualitative discourse analysis was performed. RESULTS: Pain and fractures, hospitalization, home recovery, back to school and time of diagnosis emerged as the most challenging situations. Time of diagnosis was only mentioned by parents. Some commonalities but also relevant differences in the subjective experience of the same situations, depending on the family role, were found. CONCLUSIONS: Our results reinforce the assumption that OI is a family matter and point to the importance of providing comprehensive and family-centered health and educational services tailored to each family member and to the different situations faced by these families. Implications for rehabilitation Osteogenesis imperfecta is a chronic rare disease that impacts severely the patient's life and the life of all family members. The most distressing situations are related to fractures and pain, hospitalization, recovery from fractures while being at home and preparing for school reentry. All family members participate in the rehabilitation process, each one accomplishing different tasks. Rehabilitation should include educational and psychological intervention to enhance family strengths and support all family members. Tailored and effective communication from health providers may play a critical role in the rehabilitation process.

Weight loss surgery improves quality of life in pediatric patients with osteogenesis imperfecta.

BACKGROUND: Osteogenesis imperfecta (OI) is an inherited disorder, which causes brittle bones resulting in recurrent fractures. The associated poor mobility of children with OI increases susceptibility to obesity, and obesity further dramatically limits mobility and increases fracture risk. OBJECTIVES: The aim of this report is to describe outcomes of weight loss surgery (WLS) in 2 adolescents with severe obesity and OI. SETTING: Two University Hospitals (in the United Kingdom and in the United States). METHODS: Two cases of OI treated with WLS were identified. Pre- and postoperative anthropometric and biochemical data and clinical course were reviewed. RESULTS: In these 2 cases, preoperative Body Mass Index (BMI) values were 38 and 46 kg/m2. Following laparoscopic sleeve gastrectomy (LSG), BMI decreased by 55% and 60% by 26 and 24 months, respectively. There were no surgical complications, and both patients experienced improvement in their mobility and ability to perform activities of daily living. CONCLUSION: WLS effectively treated severe obesity in 2 OI patients and substantially improved mobility and quality of life, theoretically reducing fracture risk.

Nivel de participación social, recreativa, deportiva e independencia de adolescentes y adultos jóvenes con osteogénesis imperfecta / Osteogenesis imperfecta: Level of independence and of social, recreational and sports participation among adolescents and youth

Introducción. La osteogénesis imperfecta comprende un grupo heterogéneo de síndromes del tejido conectivo, que produce fragilidad ósea, amplia variabilidad clínica con diversos grados de discapacidad motora. Objetivos. Describir el nivel de independencia, la participación social, recreativa y deportiva en adolescentes con osteogénesis imperfecta. Población y métodos. Estudio descriptivo-analítico y transversal en pacientes con osteogénesis imperfecta mayores de 15, atendidos en el Consultorio de Displasias Esqueléticas del Hospital "Prof. Dr. Juan P. Garrahan" (mayo de 2013-diciembre de 2014). Encuesta autoadministrada. El déficit de talla fue una variable indicadora de gravedad. Resultados. 18 pacientes; edad: 19,17 (±3,4 sDE); 83%, con formas moderas-graves; mediana de talla: -7,9 sDE. El 50% usaba silla de ruedas. Promedio de años de estudio: 12,2; 56% participaba en actividades deportivas; 78%, en actividades recreativas y sociales. Alto nivel de independencia. Encontramos correlación entre el déficit de talla y el uso de silla de ruedas (r: -0,77) y entre el déficit de talla y la participación deportiva (r: 0,66). No encontramos correlación con años de estudio (r: -0,15), participación social (r: -0,22) o recreativa (r: 0,35).

Introduction. Osteogenesis imperfecta is a group of hereditary connective tissue disorders that cause bone fragility, with a wide clinical variability resulting in varying degrees of motor disability. Objectives. To describe the level of independence and of social, recreational and sports participation among adolescents with osteogenesis imperfecta. Population and methods. Descriptive, analytical and crosssectional study conducted in patients with osteogenesis imperfecta older than 15 years old attending the Skeletal Dysplasia Office of Hospital "Prof. Dr. Juan P. Garrahan" (May 2013 through December 2014). Self-administered survey. Short stature was an outcome measure that indicated severity. Results. There were 18 patients; age: 19.17 (±3.4 sDE); 83% had moderate-severe forms of OI; median height: -7.9 sDE; 50% used a wheelchair. Average education years: 12.2; 56% participated in sporting activities; and 78% were involved in recreational and social activities. A high level of independence was observed. We found a correlation between short stature and use of wheelchair (r: -0.77) and between short stature and participation in sporting activities (r: 0.66). No correlation was observed with years of education (r: -0.15), participation in social activities (r: -0.22) or recreational activities (r: 0.35).

Osteogenesis imperfecta: Level of independence and of social, recreational and sports participation among adolescents and youth. / Nivel de participación social, recreativa, deportiva e independencia de adolescentes y adultos jóvenes con osteogénesis imperfecta.

INTRODUCTION: Osteogenesis imperfecta is a group of hereditary connective tissue disorders that cause bone fragility, with a wide clinical variability resulting in varying degrees of motor disability. OBJETIVES: To describe the level of independence and of social, recreational and sports participation among adolescents with osteogenesis imperfecta. POPULATION AND METHODS: Descriptive, analytical and crosssectional study conducted in patients with osteogenesis imperfecta older than 15 years old attending the Skeletal Dysplasia Office of Hospital "Prof. Dr. Juan P. Garrahan" (May 2013 through December 2014). Self-administered survey. Short stature was an outcome measure that indicated severity. RESULTS: There were 18 patients; age: 19.17 (±3.4 sDE); 83% had moderate-severe forms of OI; median height: -7.9 sDE; 50% used a wheelchair. Average education years: 12.2; 56% participated in sporting activities; and 78% were involved in recreational and social activities. A high level of independence was observed. We found a correlation between short stature and use of wheelchair (r: -0.77) and between short stature and participation in sporting activities (r: 0.66). No correlation was observed with years of education (r: -0.15), participation in social activities (r: -0.22) or recreational activities (r: 0.35).

INTRODUCCIÓN: La osteogénesis imperfecta comprende un grupo heterogéneo de síndromes del tejido conectivo, que produce fragilidad ósea, amplia variabilidad clínica con diversos grados de discapacidad motora. OBJETIVOS: Describir el nivel de independencia, la participación social, recreativa y deportiva en adolescentes con osteogénesis imperfecta. POBLACIÓN Y MÉTODOS: Estudio descriptivo-analítico y transversal en pacientes con osteogénesis imperfecta mayores de 15, atendidos en el Consultorio de Displasias Esqueléticas del Hospital "Prof. Dr. Juan P. Garrahan" (mayo de 2013-diciembre de 2014). Encuesta autoadministrada. El déficit de talla fue una variable indicadora de gravedad. RESULTADOS: 18 pacientes; edad: 19,17 (±3,4 sDE); 83%, con formas moderas-graves; mediana de talla: -7,9 sDE. El 50% usaba silla de ruedas. Promedio de años de estudio: 12,2; 56% participaba en actividades deportivas; 78%, en actividades recreativas y sociales. Alto nivel de independencia. Encontramos correlación entre el déficit de talla y el uso de silla de ruedas (r: -0,77) y entre el déficit de talla y la participación deportiva (r: 0,66). No encontramos correlación con años de estudio (r: -0,15), participación social (r: -0,22) o recreativa (r: 0,35).