The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults.

Background: The IMPACT Survey explored the humanistic, clinical, and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers, and wider society. Two previous publications report research methodology, initial insights of the survey, and cost of illness of OI. Here, we present data on the impact of OI on the quality of life (QoL) of adults with OI and explore potential drivers of this impact.

Evaluation of the Nordic Musculoskeletal Questionnaire for Measuring Prevalence and the Consequence of Pain in a Danish Adult OI Population: A Pilot Study.

Pain is a challenge in persons with OI and causes much concern in the Osteogenesis Imperfecta (OI) population. We aim to evaluate the usability of the Nordic Musculoskeletal Questionnaire (NMQ) to identify painful sites in adults with OI and to describe the occurrence of musculoskeletal (MSK) pain and its impact on their work and daily activities. This cross-sectional pilot study uses the OI-NMQ to study MSK pain prevalence in nine separate anatomical regions (neck, upper back, lower back, shoulder, elbow, hand/wrist, hip, knee, and ankle/foot) and its impact on regular work and daily activities in adults with OI.

Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.

Osteogenesis imperfecta (OI) is a Mendelian connective tissue disorder associated with increased bone fragility and other clinical manifestations most commonly due to abnormalities in production, structure, or post-translational modification of type I collagen. Until recently, most research in OI has focused on the pediatric population and much less attention has been directed at the effects of OI in the adult population. This is a narrative review of the literature focusing on the skeletal as well as non-skeletal manifestations in adults with OI that may affect the aging individual.

The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults.

Background: The IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers and wider society. Research methodology, demographics and initial insights from the survey have been previously reported. The cost of illness (healthcare resource use, productivity loss, out-of-pocket spending) and drivers of the economic impact of OI are reported here.

ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.

There is no universally accepted definition for rare diseases: in Europe a disease is considered to be rare when affecting fewer than 1 in 2000 people. European Reference Networks (ERNs) have been the concrete response to address the unmet needs of rare disease patients and many pan-European issues in the field, reducing inequities, and significantly increasing accessibility to high-quality healthcare across Europe. ERNs are virtual networks, involving centres and patient representatives with the general scope to facilitate discussion on complex cases requiring highly specialised competences and trained expertise.

The range of publications on arthrogryposis multiplex congenita from 1995 to 2022-A scoping review.

Arthrogryposis multiplex congenita (AMC) is defined as "a group of congenital conditions characterized by joint contractures in two or more body areas." Given its heterogeneity, the definition of AMC has changed multiple times. This scoping review provides an overview of how AMC is defined in scientific publications, on existing knowledge and trends regarding the concept of AMC.

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.

Background: Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. The purpose of this review was to capture and quantify the published evidence relating specifically to the clinical, humanistic, and economic impact of OI on individuals, their families, and wider society.

Methods: A systematic scoping review of 11 databases (MEDLINE, MEDLINE in-progress, EMBASE, CENTRAL, PsycINFO, NHS EED, CEA Registry, PEDE, ScHARRHUd, Orphanet and Google Scholar), supplemented by hand searches of grey literature, was conducted to identify OI literature published 1st January 1995-18th December 2021.

Physical functioning and activities of daily living in adults with amyoplasia, the most common form of arthrogryposis. A cross-sectional study.

Background: Amyoplasia, the most common form of arthrogryposis is characterized by typical deformities of the joints and replacement of skeletal muscles by fibrous tissue and fat. There is sparse literature on adaptation to adult life with amyoplasia.

Purpose: To describe physical function and activity strategies in adults with amyoplasia, as this knowledge is important for relevant function-enhancing measures.

Spinal deformities and lung function in adults with osteogenesis imperfecta.

Introduction: There are no larger studies of adults with osteogenesis imperfecta (OI), focusing on the impact of spinal cord deformities on lung function assessment.

Objectives: To assess prevalence and severity of spinal deformities and lung function in an adult population with OI and to explore whether compromise of lung function correlated with deformities of the spine.

Methods: Ninety-two adults with OI had radiographs of the spine, 75 underwent spirometry.

Right ventricular and pulmonary arterial dimensions in adults with osteogenesis imperfecta.

We examined right ventricular (RV) and ascending pulmonary artery (PA1) dimensions in adults with osteogenesis imperfecta (OI). The survey included 99 adults with OI divided in 3 clinical types (I, III, and IV) and 52 controls. RV and PA1 dimensions were measured by echocardiography and indexed for body surface area.

Bone mass, bone markers and prevalence of fractures in adults with osteogenesis imperfecta.

Unlabelled: Still little is known about the manifestations of osteogenesis imperfecta (OI) in adults. We therefore initiated this study of bone mass, bone turnover and prevalence of fractures in a large cohort of adult patients. We found a surprising low prevalence (10%) of osteoporosis.

Cardiovascular abnormalities in adults with osteogenesis imperfecta.

Background: The aim of this study was to investigate cardiac abnormalities in adults with osteogenesis imperfecta (OI).

Methods: The clinical and echocardiographic survey included 99 adults with OI divided into 3 clinical types-I, III, and IV-and 52 controls. Left ventricular end-diastolic dimensions (LVIDds), mass, and 4 aortic diameters were measured by standard echocardiography and indexed for body surface area.

A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta.

Purposes: To describe demographical variables, and to study functional ability to perform activities of daily life in adults with osteogenesis imperfecta (OI).

Methods: Population-based study. Ninety-seven patients aged 25 years and older, 41 men and 56 women, were included.

[Ehlers-Danlos syndrome--diagnosis and subclassification].

Background: Ehlers-Danlos syndrome is the most frequent heritable connective tissue disorder, and a differential diagnosis to known disorders of the muscle and skeletal system. Defects in collagen fibres may lead to hyperelasticity and fragility of connective tissue, which again may result in joint problems, hernia, and rupture of blood vessels and inner organs.

Material And Method: This review and discussion is based on articles identified by a PubMed search and personal clinical experience at rehabilitation and counselling departments.