A Osteogênese Imperfeita (OI) é caracterizada por fragilidade óssea e susceptibilidade a fraturas. As complicações da patologia podem afetar o desenvolvimento físico e motor, comprometendo as habilidades funcionais, o nível da marcha e a independência do indivíduo. Objetivo: Avaliar as características clínico-funcionais de crianças e adolescentes com Osteogênese Imperfeita (OI). Métodos: Estudo transversal no qual foram avaliados sujeitos de ambos os gêneros com idade entre 0 e 18 anos e diagnóstico de OI, em tratamento no CROI-RS. Os dados clínicos e funcionais foram coletados através de fichas específicas e avaliação funcional. Foram avaliados aspectos relacionados à presença de fraturas e deformidades ósseas, habilidade da marcha, força muscular e amplitude de movimento articular. A densidade mineral óssea (DMO) foi mensurada através do Dual Energy X-Ray Absoptometry (DEXA). O nível de significância adotado foi de 5% (p≤0,05). Resultados: Encontramos diferença significativa na ocorrência de fraturas, presença de deformidades ósseas, uso de haste intramedular, baixa densidade mineral óssea, tratamento medicamentoso e aspectos relacionados à marcha comparando OI tipo I, III e IV. As formas mais graves de OI (tipo III e IV) apresentaram fraturas nos primeiros meses de vida, maior deformidade óssea. Associação inversa entre amplitude de movimento articular geral e o nível da marcha e uma associação direta com idade de início de marcha, o número total de fraturas e a presença de deformidades ósseas. Encontrou-se uma associação direta entre a força muscular geral e o nível da marcha e uma associação inversa com a idade de início de marcha e presença de deformidades ósseas. Conclusão: Estes dados sugerem que as características clínico-funcionais variam de acordo com os tipos de OI. Nas formas moderada e grave de OI há maior limitação funcional influenciada pelo número de fraturas e presença de deformidades ósseas afetando negativamente o nível da marcha. / Osteogenesis Imperfecta (OI) is characterized by bone fragility and susceptibility to fractures. Complications of the disease can affect the physical and motor development, compromising the functional skills, level of gait and independence of the individual. Objective: To evaluate the clinical and functional features of children and adolescents with OI. Methods: A cross-sectional study which evaluated subjects of both genders aged between 0 and 18 years attended in the Reference Center for Treatment of OI of Rio Grande do Sul (CROI-RS). Clinical and functional data were evaluated through specific tokens and functional assessment. We evaluated aspects related to the presence of fractures and bone deformities, gait ability, muscle strength, joint range of motion and use of intramedullary rod. Bone mineral density (BMD) was measured by Dual Energy X-Ray Absoptometry (DEXA). The level of significance was set at 5% (p ≤ 0.05). Results: We found significant differences in the occurrence of fractures, presence of bone deformities, use of intramedullary rod, bone mineral density, drug therapy and aspects related to gait comparing OI types I, III and IV. The age of gait acquisition showed a direct association with overall joint range of motion and an inverse relationship with overall muscle strength. The level of ambulation was directly associated with overall muscle strength and inversely associated with overall joint range of motion. Conclusion: Our findings confirm that clinical and functional features vary according to OI type. Moderate and severe forms of OI are associated with greater functional limitation, influenced by fractures in early life, number of fractures and the presence of bone deformities, which negatively affect the acquisition and level of ambulation.

A Osteogênese Imperfeita (OI) é caracterizada por fragilidade óssea e susceptibilidade a fraturas. As complicações da patologia podem afetar o desenvolvimento físico e motor, comprometendo as habilidades funcionais, o nível da marcha e a independência do indivíduo. Objetivo: Avaliar as características clínico-funcionais de crianças e adolescentes com Osteogênese Imperfeita (OI). Métodos: Estudo transversal no qual foram avaliados sujeitos de ambos os gêneros com idade entre 0 e 18 anos e diagnóstico de OI, em tratamento no CROI-RS. Os dados clínicos e funcionais foram coletados através de fichas específicas e avaliação funcional. Foram avaliados aspectos relacionados à presença de fraturas e deformidades ósseas, habilidade da marcha, força muscular e amplitude de movimento articular. A densidade mineral óssea (DMO) foi mensurada através do Dual Energy X-Ray Absoptometry (DEXA). O nível de significância adotado foi de 5% (p≤0,05). Resultados: Encontramos diferença significativa na ocorrência de fraturas, presença de deformidades ósseas, uso de haste intramedular, baixa densidade mineral óssea, tratamento medicamentoso e aspectos relacionados à marcha comparando OI tipo I, III e IV. As formas mais graves de OI (tipo III e IV) apresentaram fraturas nos primeiros meses de vida, maior deformidade óssea. Associação inversa entre amplitude de movimento articular geral e o nível da marcha e uma associação direta com idade de início de marcha, o número total de fraturas e a presença de deformidades ósseas. Encontrou-se uma associação direta entre a força muscular geral e o nível da marcha e uma associação inversa com a idade de início de marcha e presença de deformidades ósseas. Conclusão: Estes dados sugerem que as características clínico-funcionais variam de acordo com os tipos de OI. Nas formas moderada e grave de OI há maior limitação funcional influenciada pelo número de fraturas e presença de deformidades ósseas afetando negativamente o nível da marcha. / Osteogenesis Imperfecta (OI) is characterized by bone fragility and susceptibility to fractures. Complications of the disease can affect the physical and motor development, compromising the functional skills, level of gait and independence of the individual. Objective: To evaluate the clinical and functional features of children and adolescents with OI. Methods: A cross-sectional study which evaluated subjects of both genders aged between 0 and 18 years attended in the Reference Center for Treatment of OI of Rio Grande do Sul (CROI-RS). Clinical and functional data were evaluated through specific tokens and functional assessment. We evaluated aspects related to the presence of fractures and bone deformities, gait ability, muscle strength, joint range of motion and use of intramedullary rod. Bone mineral density (BMD) was measured by Dual Energy X-Ray Absoptometry (DEXA). The level of significance was set at 5% (p ≤ 0.05). Results: We found significant differences in the occurrence of fractures, presence of bone deformities, use of intramedullary rod, bone mineral density, drug therapy and aspects related to gait comparing OI types I, III and IV. The age of gait acquisition showed a direct association with overall joint range of motion and an inverse relationship with overall muscle strength. The level of ambulation was directly associated with overall muscle strength and inversely associated with overall joint range of motion. Conclusion: Our findings confirm that clinical and functional features vary according to OI type. Moderate and severe forms of OI are associated with greater functional limitation, influenced by fractures in early life, number of fractures and the presence of bone deformities, which negatively affect the acquisition and level of ambulation.

Abstract Genetic factors and their resulting phenotypes were evaluated in three different bone disorders: osteogenesis imperfecta (OI), juvenile idiopathic osteoporosis (JIO), and stress fractures. The spectrum of the OI phenotypes caused by mutations in the COL1A1 and COL1A2 genes is well defined, but the mechanisms by which the variations affect the hearing phenotype are not well-known. A total of 54 Finnish OI patients with previously diagnosed hearing loss, or aged 35 or more years, were analyzed here for mutations in COL1A1, or COL1A2. Altogether, 49 mutations were identified, of which 41 were novel. No correlation was observed between the mutated gene, or the mutation type, and the hearing pattern. This indicates that the basis of hearing loss in OI is complex, and is a result of multifactorial, still unknown genetic effects, or of variable expressions of the COL1A1 and COL1A2 genes. JIO presents peri-pubertally as an acute symptomatic osteoporosis (bone pain and fractures) in otherwise healthy children, and no underlying cause has yet been identified for this disorder. Here, the analysis of the low-density lipoprotein receptor-related protein 5 gene (LRP5) in 20 patients with JIO revealed two missense mutations (A29T and R1036Q) and one frameshift mutation (C913fs) in 3 of the patients. The LRP5 gene has recently been shown to be also involved in osteoporosis-pseudoglioma syndrome and a high-bone-mass phenotype. Stress fractures are a significant problem among athletes and soldiers. Genetic factors may increase the fracture risk, but no susceptibility genes have yet been identified. Seven genes involved in bone metabolism, or pathology, were studied in terms of their roles in stress fracture. No disease-causing, or predisposing variations were found in the candidate gene, or association analyses, but a highly significant association was found between the phenotype and a vitamin D receptor (VDR) haplotype, TGT, which is composed of three polymorphic sites, FokI, BsmI and TaqI. We showed that femoral neck stress fractures are associated with a certain VDR haplotype, accounting for a five-fold increase in the risk of developing stress fractures, with an associated attributable risk of 12%. The results of this study show that genetic factors play a role in different pathological bone phenotypes. These findings provide new information on the pathogenesis of the disorders and for the development of genetic testing and targeted treatment for the disorders.

Thesis (Ph. D.)--University of Missouri-Columbia, 2006. / Title from title screen of research.pdf file (viewed on December 22, 2006). The entire dissertation/thesis text is included in the research.pdf file; the official abstract appears in the short.pdf file (which also appears in the research.pdf); a non-technical general description, or public abstract, appears in the public.pdf file. Vita. "May 2006" Includes bibliographical references.

Introduction: L’ostéogenèse imparfaite (OI) est un désordre de collagène héréditaire caractérisé par du tissu conjonctif défectueux avec une incidence de 1 sur 20 000 naissances. Il y a une surreprésentation marquée des malocclusions de Classe III, une occlusion croisée antérieure et postérieure dans la population d’OI. L’objectif principal de cette recherche est d’évaluer si la sévérité des malocclusions présente chez les patients atteints d’OI est proportionnelle à la gravité du syndrome. L’objectif secondaire de cette recherche est d’évaluer si la sévérité de la malocclusion augmente avec l’âge. Matériels et méthodes: Étude rétrospective d’observation effectuée par calcul du Discrepancy Index (DI) de 56 modèles dentaires de patients atteints d’OI. Les résultats du DI ont été comparés à trois variables qui caractérisent la gravité du syndrome: type de OI, type génétique et le Z-score de la grandeur de chaque patient. En outre, l’analyse longitudinale d’un sous-ensemble de 20 modèles a été faite pour déterminer si la sévérité de la malocclusion augmente avec le temps. Résultats: La médiane du DI était de 33,5 [1, 109]. Le DI est plus augmenté chez les patients atteints d’un type de OI plus sévère (p = 0,001) ainsi chez les patients avec un Z-score de grandeur plus bas (p <0,0001). L'analyse longitudinale a démontré une augmentation statistiquement significative de DI au fil du temps. (p=0.05) Conclusion: La malocclusion des patients atteints d’OI semble liée à la gravité de ce syndrome. En outre, la sévérité de la malocclusion semble augmenter avec l'âge. / Introduction: Osteogenesis imperfecta (OI) is an inherited collagen disorder characterized by defective connective tissue with an incidence of 1 in 20,000 births. There is a marked over-representation of Class III malocclusion, negative overjet and lateral openbite in the OI population. Objectives: Primary objective is to evaluate whether the severity of the malocclusions present in OI patients is proportional to the severity of the syndrome. Secondary objective is to evaluate whether the malocclusion severity increases with age. Methods: Retrospective observational study performed by calculating the Discrepancy Index (DI) of 56 dental casts of patients with mild to severe OI. DI scores were compared to three variables that characterize the severity of the syndrome: OI type, genetic type and height z-score of each patient. In addition, longitudinal analysis of a subset of 20 OI casts was done to determine whether the malocclusion increases in severity with time. Results: The median DI score was 33.5 [1, 109]. The DI score increased with increasing severity of OI type (p=0.001) and decreasing height z-score (p<0.0001). In addition, longitudinal analysis of 20 OI patients demonstrated a statistically significant increase in DI over time (p=0.05). Conclusion: The malocclusion characteristic of OI patients seems linked to the severity of the syndrome. In addition, the malocclusion severity seems to increase with age.

RESUMO Introdução: Osteogênese imperfeita (OI) é uma enfermidade que leva à fragilidade e redução da massa óssea, não secundária a qualquer outra condição conhecida. Devido à importância do estado nutricional para a saúde óssea, há necessidade de melhor conhecimento sobre o estado nutricional, a composição corporal e a ingestão alimentar de indivíduos com OI. Objetivo: Avaliar o estado nutricional e o consumo alimentar de adolescentes e adultos com OI. Métodos: Estudo caso-controle, com adolescentes e adultos de ambos os sexos. Todos os indivíduos foram submetidos a avaliações do estado nutricional (IMC, comprimento supino e envergadura), da composição corporal e densidade mineral óssea (DMO) pelo Dual energy X-ray absorptiometry DXA, ingestão alimentar (diário alimentar de 3 dias), avaliação bioquímica [cálcio total, fósforo, creatinina, albumina, CTX, PTH e vitamina D], avaliação da atividade física, determinação da Taxa de Metabolismo Basal (TMB). Para análise dos resultados foram utilizados One Way ANOVA, teste T-Student e testes de correlação de Pearson e considerados os valores de p<0,05. Resultados: Participaram do estudo 26 indivíduos com OI (50% OI tipo I/ 50% OI tipo III) e 8 indivíduos saudáveis pareados por sexo e idade. O nº de fraturas foi maior nos indivíduos com OI tipo III, em média 60 fraturas comparado a 19 no OI tipo I. A DMO em coluna lombar L1-L4 foi significativamente maior no grupo controle comparado aos tipos de OI I e III [-0,4(0,5) vs. -2,7(1,0) e - 2,7(0,6) g/cm2, p<0,05], respectivamente. Segundo o IMC, 100% dos indivíduos do grupo controle encontram-se eutróficos, 46% dos indivíduos com OI tipo III obesos e 31% dos indivíduos OI tipo I com sobrepeso. Quanto ao percentual de gordura corporal, encontrou-se 14% de indivíduos com excesso de gordura corporal no grupo controle, 83% nos indivíduos com OI tipo III e 42% nos indivíduos com OI tipo I. No grupo caso houve correlação negativa entre número de fraturas e massa magra e correlações positivas entre número de fraturas e porcentagem de gordura corporal e IMC. Não houve diferença na ingestão de cálcio e de fósforo entre os grupos. Entretanto, a vitamina D foi significativamente menor no grupo controle. Somando-se a ingestão e a suplementação de nutrientes, 58% e 12% dos indivíduos do grupo caso não alcançaram os valores recomendados de ingestão de cálcio e vitamina D, respectivamente. Os indivíduos com OI tipo III apresentaram concentrações séricas de fósforo significativamente maiores quando comparados aos com OI tipo I [4,3 (0,8) vs. 3,3 (0,4)mg/dl, p<0,05], respectivamente. Foi observada 71%, 77% e 69% de indivíduos com insuficiência de vitamina D no grupo controle, OI tipos I e III, respectivamente. Quanto à TMB, observou-se diferença significativa na TMB em kcal/dia entre os gêneros dos indivíduos adultos com OI tipo III, sendo significativamente maior no feminino. Conclusão: Observou-se elevada porcentagem de indivíduos com OI com excesso de peso e excesso de gordura corporal, principalmente entre os indivíduos com OI tipo III. A ingestão de cálcio e vitamina D foi inferior a recomendação na maioria dos indivíduos com OI e também no grupo controle. Estes resultados apontam a necessidade de uma intervenção nutricional direcionada a estes pacientes, uma vez que o estado nutricional e alimentar adequado podem contribuir para a saúde óssea. / Background: Osteogenesis imperfecta (OI) is a disease that leads to fragility and reduced bone mass, not secondary to another known condition. Due to the importance of nutritional status for bone health, there is a need for better knowledge on the nutritional status, body composition and dietary intake of individuals with OI. Objective: To evaluate the nutritional status and nutrient intakes of adolescents and adults with OI. Methods: A case-control study with adolescents and adults of both genders. Nutritional status (BMI, supine length and armspan), body composition and bone mineral density (BMD) by Dual Energy X-Ray Absorptiometry - DXA, dietary intake (3 days Dietary Records), biochemical measurements (total calcium, phosphorus, albumin, creatinina, PTH, CTX and vitamin D), physical activity assessment and determination of basal metabolic rate (BMR) were evaluated. Statistical analyses comprised One Way ANOVA and Student-T test to calculated differences between groups and Pearson\'s correlation test. Significance was considered when p<0.05. Results: There were 26 subjects with OI (50% OI type I / type III OI 50%) and 8 healthy subjects matched by sex and age in the control group. The number of fractures was higher in subjects with OI type III, an average of 60 fractures compared to 19 in the OI type I. The BMD in the lumbar spine L1-L4 was significantly higher in the control group compared to the types of OI I and III [-0.4 (0.5) vs -2.7 (1.0) and -2.7 (0.6) g/cm2, p<0.05], respectively. According to BMI, 100% of subjects in the control group were considered normal weight, 46% of individuals with OI type III are obese and 31% of individuals type I OI, overweight. Regarding percentage of body fat, 14% of individuals with in the control group, 83% in OI type III and 42% in individuals with type I presented excess of body fat. In the case group, there was negative association between number of fractures and fat-free body mass and positive association between number of fractures and body fat% and BMI. There was no difference of calcium and phosphorus intakes between the groups. However, vitamin D was significantly lower in the control group. In addition considering foods and supplementation, 58% and 12% of individuals in the case group did not reach the recommended levels of calcium and vitamin D, respectively. Individuals with type III showed serum phosphorus significantly higher when compared with OI type I [4.3 (0.8) vs. 3.3 (0.4) mg/dl, p<0.05], respectively. Was observed 71%, 77% and 69% of insufficiency vitamin D in individuals of control group, OI types I and III, respectively. A significant difference between BMR in kcal/day between genders of adults with OI type III was observed being significantly higher in females. Conclusion: There was a high percentage of individuals with OI with higher body weight and body fat, mainly among OI type III. The calcium and vitamin D intakes was under recommended levels in most individuals with OI and in the control group. These results demonstrates that a nutritional intervention program is necessary for these patients, such an adequate nutritional status and dietary pattern could contribute to bone health.

RESUMO Introdução: Osteogênese imperfeita (OI) é uma enfermidade que leva à fragilidade e redução da massa óssea, não secundária a qualquer outra condição conhecida. Devido à importância do estado nutricional para a saúde óssea, há necessidade de melhor conhecimento sobre o estado nutricional, a composição corporal e a ingestão alimentar de indivíduos com OI. Objetivo: Avaliar o estado nutricional e o consumo alimentar de adolescentes e adultos com OI. Métodos: Estudo caso-controle, com adolescentes e adultos de ambos os sexos. Todos os indivíduos foram submetidos a avaliações do estado nutricional (IMC, comprimento supino e envergadura), da composição corporal e densidade mineral óssea (DMO) pelo Dual energy X-ray absorptiometry DXA, ingestão alimentar (diário alimentar de 3 dias), avaliação bioquímica [cálcio total, fósforo, creatinina, albumina, CTX, PTH e vitamina D], avaliação da atividade física, determinação da Taxa de Metabolismo Basal (TMB). Para análise dos resultados foram utilizados One Way ANOVA, teste T-Student e testes de correlação de Pearson e considerados os valores de p<0,05. Resultados: Participaram do estudo 26 indivíduos com OI (50% OI tipo I/ 50% OI tipo III) e 8 indivíduos saudáveis pareados por sexo e idade. O nº de fraturas foi maior nos indivíduos com OI tipo III, em média 60 fraturas comparado a 19 no OI tipo I. A DMO em coluna lombar L1-L4 foi significativamente maior no grupo controle comparado aos tipos de OI I e III [-0,4(0,5) vs. -2,7(1,0) e - 2,7(0,6) g/cm2, p<0,05], respectivamente. Segundo o IMC, 100% dos indivíduos do grupo controle encontram-se eutróficos, 46% dos indivíduos com OI tipo III obesos e 31% dos indivíduos OI tipo I com sobrepeso. Quanto ao percentual de gordura corporal, encontrou-se 14% de indivíduos com excesso de gordura corporal no grupo controle, 83% nos indivíduos com OI tipo III e 42% nos indivíduos com OI tipo I. No grupo caso houve correlação negativa entre número de fraturas e massa magra e correlações positivas entre número de fraturas e porcentagem de gordura corporal e IMC. Não houve diferença na ingestão de cálcio e de fósforo entre os grupos. Entretanto, a vitamina D foi significativamente menor no grupo controle. Somando-se a ingestão e a suplementação de nutrientes, 58% e 12% dos indivíduos do grupo caso não alcançaram os valores recomendados de ingestão de cálcio e vitamina D, respectivamente. Os indivíduos com OI tipo III apresentaram concentrações séricas de fósforo significativamente maiores quando comparados aos com OI tipo I [4,3 (0,8) vs. 3,3 (0,4)mg/dl, p<0,05], respectivamente. Foi observada 71%, 77% e 69% de indivíduos com insuficiência de vitamina D no grupo controle, OI tipos I e III, respectivamente. Quanto à TMB, observou-se diferença significativa na TMB em kcal/dia entre os gêneros dos indivíduos adultos com OI tipo III, sendo significativamente maior no feminino. Conclusão: Observou-se elevada porcentagem de indivíduos com OI com excesso de peso e excesso de gordura corporal, principalmente entre os indivíduos com OI tipo III. A ingestão de cálcio e vitamina D foi inferior a recomendação na maioria dos indivíduos com OI e também no grupo controle. Estes resultados apontam a necessidade de uma intervenção nutricional direcionada a estes pacientes, uma vez que o estado nutricional e alimentar adequado podem contribuir para a saúde óssea. / Background: Osteogenesis imperfecta (OI) is a disease that leads to fragility and reduced bone mass, not secondary to another known condition. Due to the importance of nutritional status for bone health, there is a need for better knowledge on the nutritional status, body composition and dietary intake of individuals with OI. Objective: To evaluate the nutritional status and nutrient intakes of adolescents and adults with OI. Methods: A case-control study with adolescents and adults of both genders. Nutritional status (BMI, supine length and armspan), body composition and bone mineral density (BMD) by Dual Energy X-Ray Absorptiometry - DXA, dietary intake (3 days Dietary Records), biochemical measurements (total calcium, phosphorus, albumin, creatinina, PTH, CTX and vitamin D), physical activity assessment and determination of basal metabolic rate (BMR) were evaluated. Statistical analyses comprised One Way ANOVA and Student-T test to calculated differences between groups and Pearson\'s correlation test. Significance was considered when p<0.05. Results: There were 26 subjects with OI (50% OI type I / type III OI 50%) and 8 healthy subjects matched by sex and age in the control group. The number of fractures was higher in subjects with OI type III, an average of 60 fractures compared to 19 in the OI type I. The BMD in the lumbar spine L1-L4 was significantly higher in the control group compared to the types of OI I and III [-0.4 (0.5) vs -2.7 (1.0) and -2.7 (0.6) g/cm2, p<0.05], respectively. According to BMI, 100% of subjects in the control group were considered normal weight, 46% of individuals with OI type III are obese and 31% of individuals type I OI, overweight. Regarding percentage of body fat, 14% of individuals with in the control group, 83% in OI type III and 42% in individuals with type I presented excess of body fat. In the case group, there was negative association between number of fractures and fat-free body mass and positive association between number of fractures and body fat% and BMI. There was no difference of calcium and phosphorus intakes between the groups. However, vitamin D was significantly lower in the control group. In addition considering foods and supplementation, 58% and 12% of individuals in the case group did not reach the recommended levels of calcium and vitamin D, respectively. Individuals with type III showed serum phosphorus significantly higher when compared with OI type I [4.3 (0.8) vs. 3.3 (0.4) mg/dl, p<0.05], respectively. Was observed 71%, 77% and 69% of insufficiency vitamin D in individuals of control group, OI types I and III, respectively. A significant difference between BMR in kcal/day between genders of adults with OI type III was observed being significantly higher in females. Conclusion: There was a high percentage of individuals with OI with higher body weight and body fat, mainly among OI type III. The calcium and vitamin D intakes was under recommended levels in most individuals with OI and in the control group. These results demonstrates that a nutritional intervention program is necessary for these patients, such an adequate nutritional status and dietary pattern could contribute to bone health.

Osteogênese Imperfeita (OI) é uma doença da formação do colágeno que leva à baixa densidade mineral óssea e consequentemente a fraturas relacionadas ou não aos mínimos traumas. Pacientes com OI requerem acompanhamento médico regular, cirurgia corretiva, terapia periódica de medicamentos e fisioterapia, bem como as práticas específicas de cuidados diários. Além disso, na ocorrência de fraturas necessitam de imobilização que causam importante desconforto e podem gerar limitações a curto e longo prazo. Objetivo: Avaliar a Qualidade de Vida (QV) de crianças, adolescentes e adultos com OI e seus cuidadores. Métodos: Estudo prospectivo transversal utilizando diferentes questionários para avaliação da QV, de acordo com a idade e condição médica. Em crianças e adolescentes foi utilizado o Pediatric Quality of Life Inventory (PedsQLTM), em adultos foi aplicado The 36-Item Short form Health Survey Questionnaire (SF-36) e em cuidadores foi utilizado WHOQOL-Bref. A classificação socioeconômica foi realizada utilizando o questionário desenvolvido pela Associação Brasileira de Empresas de Pesquisa (ABEP). Para classificação clínica da OI os participantes foram agrupados em forma leve (tipo I) ou f moderada/grave (tipos III-V). A dor e o número de fraturas foram avaliados por auto relato. Resultados: Na avaliação de crianças e adolescentes a amostra foi composta por 52 pacientes com OI (com idade entre 5-17 anos); Em relação ao tipo de OI, 26 (50%) do tipo I, 13 (25%) do tipo IV, 12 (23,1%) do tipo III, e 1 (1,9%) do tipo V. A menor média dos domínios avaliados foi no domínio físico (62,07 ± 2,9), sendo observado diferença significativa entre OI leve versus moderada/grave (69,23 ± 3,3 vs 54,56 ± 4,4; p= 0,01), e correlacionada positivamente com a mobilidade (r= 0,43, p= 0,01) e negativamente com a dor (r= -0,33, p= 0,025). Na avaliação dos adultos com diagnóstico de OI a amostra foi composta por 31 indivíduos, com média de idade de 32,84 anos (± 12,11), destes 24 (77,4%) eram do sexo feminino. Em relação ao tipo de OI, 24 (77,4%) apresentavam OI tipo I, 2 (6,4 %) tipo III, 2 (6,4%) tipo IV, 3 (9,8%) tipo V. Com relação à QV, o escore que apresentou menor média foi de capacidade funcional (41,9±12,3) e o que apresentou melhor média foi a vitalidade (53,3±9,3). Quando comparados pela condição física, forma moderada/grave versus forma leve, o domínio de capacidade funcional continuou com a menor média (30,91), não sendo observada diferença significativa entre os grupos, por condição física. A variável dor mostrou correlação negativa nos escores capacidade funcional (p=0,04 r=-0,3), aspectos sociais (p=0,02 r=-0,4) e aspectos emocionais (p=0,02 r=-0.4). Foi testada a correlação das variáveis classe econômica e número de fraturas em relação aos escores de QV estudados, não sendo encontrada significância estatística. Em relação à avaliação dos cuidadores foram incluídos 24 cuidadores de 27 pacientes com OI, 10 com OI tipo I, 4 com tipo III e 13 com tipo IV. Dezoito dos cuidadores eram mães, dois também apresentavam diagnóstico de OI, e 22 cuidavam de um indivíduo com OI, as demais cuidavam de dois ou mais. As médias dos domínios avaliados foram 14,59 (±3,29) para o domínio físico, 13,80 (±2,8) para o domínio psicológico, 15,19 (±3,7) para o domínio relações sociais, e 12,87 (±2,9) para o domínio ambiental; a pontuação QV total foi de 14,16. Os domínios de QV não diferiram significativamente de acordo com o tipo de OI ou com o número de fraturas. O nível socioeconômico não se correlacionou significativamente com os domínios de QV avaliados. Conclusões: De um modo geral podemos observar que a OI interfere na avaliação da QV, tanto na avaliação de crianças e adolescentes quanto em adultos, principalmente no dom físico, embora não avaliada por questionário específico, e, este domínio resultou em menores médias nos indivíduos com formas moderadas e graves de OI. Observamos que a dor foi frequentemente relatada e foi uma das variáveis que mais interferiu nos domínios avaliados, isto reforça a importância do manejo e acompanhamento clínico desses pacientes. Em relação aos cuidadores a QV mostrou-se prejudicada em decorrência da doença daquele que recebe o cuidado. Ressaltamos que estudos adicionais são necessários para confirmar estes resultados e determinar quais os fatores que mais influenciam os domínios de QV. / Osteogenesis Imperfecta (OI) is a congenital disorder of collagen biosynthesis which leads to low bone mineral density and consequently fractures related or not to minimum trauma. Patients are often requiring regular medical assistance, surgery, periodic drug therapy and physiotherapy, as well as specific practices for daily care activities. Moreover, immobilization leads to significant discomfort and physical limitations both at short and long term follow-up. Objective: To evaluate quality of life (QoL) of caregivers as well as children, adolescents and adults with OI. Methods: Cross-sectional study using different questionnaires to evaluate QoL, according to age and clinical data. The Pediatric Quality of Life Inventory (PedsQLTM), the 36-Item Short Form Health Survey Questionnaire (SF-36) and WHOQOL-Bref were used for QoL assessment in children/adolescents, adults and caregivers, respectively. The socioeconomic classification was assessed using the Brazilian Association of Research Companies (ABEP) survey. OI was classified as mild (type I) or moderate to severe forms (III-V types). Pain and number of fractures were assessed by self-report questionnaires. Results: The children and adolescents sample consisted of 52 patients with OI (aged 5-17 years); twenty-six (50%) of type I, 13 (25%) of type IV, 12 (23.1%) of type III, and 1 (1.9%) of type V. Physical domain reached lowest means (62.07 ± 2.9), with significant differences between mild versus moderate to severe OI (69.23 ± 3.3 vs 54.56 ± 4.4, p = 0, 01), being positively correlated with mobility (r = 0.43, p = 0.01) and negatively with pain (r = -0.33, p = 0.025). The adults sample consisted of 31 OI subjects with a mean age of 32.84 years (± 12.11), of these 24 (77.4%) were female. Twenty-four (77.4%) had type I, 2 (6.4%) type III, 2 (6.4%) type IV and 3 (9.8%) type V OI. Functional capacity reached the lowest score (41.9 ± 12.3) and vitality the highest (53.3 ± 9.3). No significant difference between severity groups were observed in the functional capacity domain when compared for physical condition. Pain showed negative correlation with the functional capacity scores (p = 0.04 r = -0.3), social aspects (p = 0.02 r = -0.4) and emotional aspects (p = 0.02 r = -0.4). Economic class and number of fractures did not reached statistical significance when tested with QoL scores. Twenty-four caregivers of 27 patients were included, 10 with type I, 4 with type III and 13 with type IV OI. Eighteen caregivers were mothers, two diagnosed with OI, 22 took care of single patients, and the remainder took care of two or more. The means were 14.59 (± 3.29) for the physical domain, 13.80 (± 2.8) for the psychological domain, 15.19 (± 3.7) for the social relationships domain, and 12.87 (± 2.9) for the environmental domain; the total score QoL was 14.16. QoL domains did not differ significantly according to the type of OI or the number of fractures. The socioeconomic classification did not correlate with domains assessing QoL Conclusions: OI interferes in the assessment of QoL, both in the evaluation of children, adolescents and adults, especially in the physical component. Although not evaluated by specific questionnaires, the study shows lower means in individuals with moderate and severe forms of OI. Pain was commonly reported and it was the main factor influencing the domains. This reinforces the importance of management and clinical monitoring of these patients. Regarding caregivers, QoL assessment proved to be impaired due to the disease of their dependents. We emphasize that further studies are needed to confirm these results and to determine which factors most influence in QoL domains.

As Osteogêneses Imperfeitas (OI) são um grupo de doenças genéticas que afetam a biossíntese do colágeno. São caracterizadas por fragilidade óssea, baixa estatura e DI (dentinogênese imperfeita). O quadro clínico gera uma limitação funcional na maioria dos pacientes, o que acarreta a necessidade da assistência de um cuidador. Objetivo: avaliar a qualidade de vida (QV) de indivíduos com OI e a QV dos cuidadores de crianças e adolescentes com OI em tratamento no CROI-RS (Centro de Referência em Osteogênese Imperfeita do Rio Grande do Sul). Métodos: estudo transversal, com amostragem por conveniência. O WHOQOLBref e o PedsQLTM foram os instrumentos utilizados para a mensuração da QV dos pacientes com idade E 18 anos e > 18 anos, respectivamente, sendo que, para os pacientes com idade <5 anos, o instrumento foi respondido por procuração. Para avaliação nos cuidadores foi utilizado o WHOQOL- Bref. Resultados: avaliação da QV dos pacientes com OI: foram incluídos 32 indivíduos com OI, com idade de 2-4 anos (n= 5), 5 a 12 anos (n= 13), 13-17 anos (n= 6) e maiores de 18 anos (n= 8). Dezenove indivíduos apresentavam OI tipo I, 11 tipo IV e 2 tipo III. Foi observada diferença significativa no domínio emocional (p= 0,025) entre a OI tipo I (mediana do escore= 50) e tipo IV (mediana do escore= 75). Quando comparados os tratamentos recebidos com os escores de QV, foi observada diferença significativa no domínio ambiental em relação ao tratamento não farmacológico (mediana dos escores= 50) e uso de alendronato (mediana= 75; p= 0,018). Os escores de QV não variaram de acordo com o número de fraturas prévias. Avaliação da QV dos cuidadores: foram incluídos 27 cuidadores (média de idade= 37 ± 8,1 anos; mães= 19/27), sendo que 5 também apresentavam o diagnóstico de OI. Vinte e dois cuidadores assistiam apenas um indivíduo com OI. Em relação ao tipo de OI dos assistidos, 16 indivíduos apresentavam o tipo IV, 14 o tipo I e 4 o tipo III. Considerando a amostra total, a média do escore total (ET) 4-20 do WHOQOL-Bref foi 14,09 no domínio físico; 13,45 no psicológico; 14,27 no social; 12,13 no ambiental; e do escore total de QV foi 14,0. Não foi observada diferença significativa dos escores de QV de acordo com o tipo de OI do assistido ou com o número de fraturas apresentadas. A correlação entre o nível econômico e os escores de QV não se mostrou significativa. Conclusões: A QV dos indivíduos com OI no domínio emocional apresentou uma distribuição diferente e com maior comprometimento com significância estatística comparação da OI do tipo I com relação ao tipo IV (mais comprometida no tipo I). Em relação à QV de cuidadores de pacientes com OI, esta, mostrou-se comprometida quando comparada com indivíduos normais. / Osteogenesis imperfecta (OI) is a group of genetic disorders that affects collagen biosynthesis. It is characterized by bone fragility, short stature, and dentinogenesis imperfecta. Clinical symptoms lead to functional limitation in most patients. Objective: To assess the quality of life (QOL) of Brazilian individuals with OI and caregivers. Methods: This was a cross-sectional study with convenience sampling. The WHOQOL-BREF was used to measure QOL in patients aged >18 years and the PedsQL™ in patients E18 years. In patients <5 years of age, the instrument was answered by proxy respondents. Results: Assessment individuals with OI: The sample consisted of 32 individuals with OI aged 2-4 years (n= 5), 5-12 years (n= 13), 13-17 years (n= 6), and >18 years (n= 8). Nineteen individuals had OI type I, 11 had OI type IV, and 2 had OI type III. There was a significant difference in the psychological health (p= 0.025) between OI type I (median score= 50) and type IV (median score= 75). When treatment received was compared to QOL scores, there was a significant difference in the environment domain between non-pharmacological treatment (median score=50) and alendronate therapy (median score= 75, p= 0.018). Assessment caregivers of OI: A total of 27 caregivers were included (mean age, 37 ± 8.1 years), 19 of whom were mothers and 5 of whom also had OI. Twenty-two caregivers cared for only one patient with OI. Regarding OI subtype, 16 patients had type IV, 14 had type I, and 4 had type III disease. Overall, mean total WHOQOL-Bref scores (range 4–20) were 14.09 for the physical health domain, 13.45 for the psychological domain, 14.27 for the social relationships domain, and 12.13 for the environment domain, yielding a mean total QoL score of 14.0. There were no significant differences in QoL scores associated with OI subtype or number of fractures of the care recipient. There was no significant correlation between economic status and QoL scores. Conclusions: The QOL of individuals with OI in the psychological health showed a different distribution and a worst distribution with statistical significance in comparison with the OI type I with respect to the type IV. Regarding QOL of caregivers of patients with OI, this, was compromised when compared with normal subjects.

Osteogenesis imperfecta (OI) is a genetic condition commonly known as Brittle Bones. The purpose of this study was to listen to and document the experiences of those with OI to investigate if there were barriers to inclusive education for students with osteogenesis imperfecta (OI). Persons with OI are often small in stature, have limited strength and varying degrees of mobility. Adventurous behaviour or everyday activities may result in fractures. Often in the world of disability the focus is on the medical condition rather than the personal experiences of those with the condition. This study provided an opportunity to articulate the personal experiences of the participants. In this study two specific aspects of educational experiences were examined. The first aspect explored was the way students managed physically within the educational setting, while the second aspect examined how students coped emotionally. Five major questions were used to determine if special education policies have affected the quality of inclusiveness for students with OI in New Zealand classrooms over a period of forty years. These questions examined what barriers exist in the past and whether the same barriers still exist within today's educational setting. The questions investigated what or who may be the cause of these barriers and what possible effects these barriers might have on the student The present situation was compared with the past and finally how might these barriers be overcome was investigated. This qualitative study focused on three individuals, each representing a different generation. The participants exemplified a particular phenomenon, specifically the daily school lives in New Zealand of those with OI. The difficulties these students faced were explored through semi-structured interviews to encourage the three participants to voice their individual experiences. All three participants gave freely of their thoughts in an articulate, thoughtful and open manner, sharing both their positive and unpleasant experiences. This study revealed that some New Zealand schools have yet to implement recent inclusive education policies set out by the Ministry of Education. The three participants identified barriers to inclusive education from their own personal perspectives. The physical environment of school presented challenges. Distance between classrooms and assembly halls and accessibility to the playground, ramps and toilet facilities created difficulties for students with OI who did not walk independently. Attitudes of parents, teachers, and the wider school community impacted on the self-attitude of students with OI. Over-protection, fear and anxiety were identified as unintentional attitudes that placed limitations on participation of meaningful activities and added to student feelings of isolation and difference. Lack of knowledge of the medical and psychosocial aspects of students with OI could account for the continued barriers imposed by some teachers. Barriers do still exist in some New Zealand schools for students with osteogenesis imperfecta. Improved access could result in more participation. More participation could allow for an improved quality of social interaction and thus result in greater focus on the person and less focus on the disability. Collaboration between all school staff, parents and students with OI is essential to minimise barriers and maximise academic and social opportunities.