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Checklist for paediatricians and GPs. Recommended follow-up of persons with osteogenesis imperfecta (OI) in Norway

Everyone who has OI should have a good working relationship with their General Practitioner (GP). All children with OI should have a review with their paediatrician as soon as the diagnosis is made and make a plan for follow-up. Adults with OI should have a consultation with their GP with a review of symptoms and findings related to the diagnosis approximately once a year (adapted to individual needs). Detailed checklists for children and adults can be found below.

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Checklist OI for paediatricians and GPs.pdf

What is osteogenesis imperfecta (OI)? 

OI, also called brittle bone disease, is a group of hereditary connective tissue diseases that primarily affect the skeleton, but other organs are also affected.  OI is divided into subtypes with great variation in clinical findings and severity.  

Common characteristics of OI are increased fracture tendency, deformities in the back, arms and legs, hypermobile joints, blue sclera of the eyes, decreased hearing, tooth changes and varying degrees of short stature. In addition, various internal organs such as lungs, heart and stomach / intestines may be affected. Despite the medical challenges, people with OI live active and good lives.  

Read more about medical aspects of osteogenesis imperfecta (OI) (in Norwegian) – at TRS resource centre for rare disorders.

  

What should be followed up regularly? 

Children with OI 

Age, severity and the combination of symptoms and findings determine what follow-up and treatment each child with OI will need. There is no curative treatment for OI. The goal of the follow-up is therefore to contribute to the best possible quality of life, increased mobility, and functional independence.

Treatment is aimed at improving bone strength, reducing fracture risk, limiting pain, correcting deformities, and preventing long-term complications. 

All children with OI should have a review with their paediatrician as soon as the diagnosis is made and make a plan for follow-up. Children with clinically moderate and severe OI should be monitored regularly by a paediatrician, paediatric orthopaedic surgeon and physiotherapist (possibly at an OI – clinic), frequency is planned individually. 

 Checklist for follow-up of children with OI

What should be investigated?

Recommended assessments

How often?

Comment

Skeleton

X-ray total skeleton on suspicion of OI

Common changes: Curved bones, foot misalignment (flat feet), increased spine curvature (kyphosis/scoliosis), wormian bones in the skull.

Fractures, deformities and bone density measurements determine the indication for treatment with bisphosphonates 

  

  

  

  

  

Fracture

Ask if there have been new fractures since the last consultation.

Low threshold for X-rays on suspicion of fractures, but fresh OI fractures can be difficult to detect.

  

Children with OI fractures should have easy access to hospital with an orthopedic surgeon

Bone density measurement

Norway unfortunately do not have access to bone density measurements for the very youngest

First time at 4 years of age

  

 

Hearing

Refer to audiometry, refer to ENT specialist in case of symptoms

First check-up at 4 years of age, then approximately every 3 years or in case of new symptoms

 

Approximately 50% of all people with OI have hearing loss

View

Refer for eye examination - refer to an ophthalmologist if symptoms occur

First check-up before school starts, then approximately every 3 years or in case of new symptoms.

  

Follow-up depending on findings

Teeth

Follow separate guidelines for follow-up of teeth and oral cavity at OI, from the Norwegian Centre for Oral Health in Rare Disorders (TAKO Centre) (in Norwegian)

First examination at 6 – 8 months of age when teeth first arrive

  

Function

  

  

Monitor the child's development, especially new deformities in the spine, feet and arms/legs.

Refer to pediatric orthopedic surgeon if findings

Annually/on demand

Change since last?

Pain

Simple pain anamnesis – VAS scale with faces

Annually/on demand

Change since last?

Blood tests

Checking total calcium and vitamin D

Other blood tests if needed

Annually/on demand

Give supplements at too low values

Nutrition

Review of diet – is the child getting enough calcium and vitamin D?

Note! Overweight in children who are immobile.

Note! Constipation is not uncommon

Annually/on demand

Provide info about proper and varied diet

Transition from child to adult (transition)

When the person turns 14 - 16 years old, they should be offered counselling about switching to adult follow-up

  

 

 

Adults with OI

Consultations with a GP should include conversation about, and examination of, the following issues:

Checklist for follow-up of adults with OI

What should be investigated?

Recommended assessments

How often?

Comment

Blood tests

Checking total calcium and vitamin D

Other blood tests if needed

Annual

Start treatment at too low values

Skeleton

Refer to bone density measurement (DXA)

In osteopenia / osteoporosis - refer to the endocrinologist to assess the indication for treatment with bisphosphonates.

Attention to increasing spinal deformity (kyphosis/scoliosis)

Every 5 years unless otherwise agreed with specialist or changes have occurred

Attention to new fractures, especially in the spine, and increasing skeletal pain

Fracture

Ask if there have been new fractures since the last consultation.

OI fractures can be difficult to detect

Refer to orthopedic surgeon v/deformities, fractures that do not heal, increasing pain

 

Hearing

Refer to audiometry, refer to ENT doctor in case of symptoms

Every 3 years or in case of new symptoms

Approximately 50% of all people with OI have hearing loss

View

Simple eye test – refer for eye examination - refer to ophthalmologist if symptoms occur

Every 3 years or in case of new symptoms

Measuring eye pressure can give false values

Teeth

Follow separate guidelines for follow-up of teeth and oral cavity at OI, from the Norwegian Centre for Oral Health in Rare Disorders (TAKO Centre) (in Norwegian)

 

 

Lungs

Spirometry, listening to lung sounds (auscultation) - asking about heavy breathing, morning fatigue. Refer to pulmonary doctor

First examination at 25-30 years of age + when symptoms

 

Cardiovascular

Listening to heart sounds (auscultation), ECG, BT – refer to cardiologist

First examination at 25-30 years of age + for symptoms

 

Function

 

 

Conversation about function – experiencing loss of function? Physical activity?

Possible mapping of function – simple ADL status

 

Annually/on demand

Change since last?

Need for rehabilitation?

Joint Status

Hypermobile joints?

 

Annually/on demand

 

Pain

Simple anamnesis / pain assessment

Annually/on demand

Change since last?

 

Nutrition

Review of diet – important that calcium and vitamin D are covered through natural sources.

Note! Constipation is not uncommon

Annually/on demand

Constipation can also be caused by skeletal change (protrucio) of the hip

Other

Have a low threshold for referral in the event of new symptoms/findings

Annually/on demand

 

Maŋemus ođastuvvon 2024-05-02