Osteogenesis Imperfecta (OI)

Osteogenesis Imperfecta (OI) is a rare genetic disorder affecting approximately 1 in 10,000 to 1 in 20,000 people worldwide. Statistically there are ca. 500.000 people with OI, many of them have not received a formal diagnosis. OI is most commonly caused by mutations in the COL1A1 and COL1A2 genes and results in impaired bone matrix quality and reduced bone mass, leading to frequent fractures, skeletal deformities, and other connective tissue abnormalities. Many people with OI deal with pain, fatigue and other impact to their physical or emotional wellbeing.
Source: The Swiss OI Association (Permission granted)

Work in progress: Currently 14 materials have been uploaded. Expect 50+ in 2025. You can provide ideas and suggestions what topics you’d like us to produce.


Found 17 Results

Managing the patient with osteogenesis imperfecta: a multidisciplinary approach

This article describes the Life stages and special considerations with regard to Babies, Toddlers, Childdren and Teenagers with OI.

Multidisciplinary Treatment Children with OI

Early Life Management of Osteogenesis Imperfecta

The article discusses the management of Osteogenesis Imperfecta (OI) in infants, especially those with severe forms, during their first year of life.

Multidisciplinary Treatment 0 - 3 years

Introduction Video: Hearing and OI

This 10 minute video provides a introduction about hearing loss in OI.

Hearing

The PATCH study: Prevalence of Hearing Loss during Aging and Treatment Choices in OI: A Danish Nationwide Register – Base Cohort Study

This is a Danish, register-based cohort study following persons with OI

Hearing Adults with OI

International Standard Set for the Assessment of Hearing in OI

The international Standard Set for the Assessement of Hearing in OI is based on Key4OI.

Hearing

Introduction Video: Trauma and OI

This video is providing an introduction into the psychological impacts of trauma and fear that can be associated with Osteogenesis Imperfecta (OI)

Emotional Wellbeing Adults with OI

Eat, Breath, Sleep with Osteogenesis Imperfecta

This article explored the effects of lung function, sleep and nutritional status in adult patients with OI.

Lung Adults with OI

Introduction Video: Pain in OI

This video provides an introduction into the topic of Pain in OI based on scientific research. It is adressed to people with OI as well as healthcare providers and researchers.

Pain

Introduction Video: Physical Wellbeing with OI

View this video to learn about the importance and numerous benefits of prioritising physical wellbeing and fitness for everyone with OI.

Physical Wellbeing Adults with OI

Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta

The article provides recommendations for physical rehabilitation for children and teens with Osteogenesis Imperfecta (OI).

Physical Wellbeing Children with OI

Dental Implants in People with Osteogenesis Imperfecta: A Systematic Review

This article explores whether dental implants are a safe and effective way to replace missing teeth for patients with OI.

Teeth & Jaw

Introduction Video: Fatigue and OI

This video explores fatigue in adults with OI. What do we know and what can science tell us today?

Fatigue Adults with OI

Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach

This article provides an overview of how different approaches work together to improve quality of life for people with OI.

Multidisciplinary Treatment

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams

This article describes a basic roadmap for surgeries in OI.

Surgery / Orthopaedic

The OI Types Classification and Nosology of OI

This video discusses how the different OI types have been developed and how the “nosology” keeps evolving.

Genetics

Tips and Tricks for daily living with Children with OI

Watch this video to learn about practical tips and tricks to support daily living for children with OI

Emotional WellbeingPhysical Wellbeing 0 - 3 years13 - 25 years4 - 12 yearsChildren with OI
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