Neurodisability clinical outcomes

Clinical outcomes are measurable changes in health, function or quality of life that result from our care. Constant review of our clinical outcomes establishes standards against which to continuously improve all aspects of our practice.

The Wolfson Neurodisability Service offers expertise in comprehensive assessment, diagnosis and advice on management of children with complex neurodevelopmental disorders.

The service is comprised of a number of specialist multidisciplinary teams, which can include consultants in paediatric neurodisability, paediatric neurologists, clinical nurse specialists, clinical psychologists, occupational therapists, physiotherapists, speech and language therapists, assistive technologists and administrative staff. We treat a wide range of conditions.

Osteogenesis Imperfecta (OI) also known as ‘brittle bone disease’ is a rare genetic condition that is present from birth, where type 1 collagen (an important protein responsible for maintaining the structure of bone and other tissues, such as tendons, ligaments, skin and blood vessels) is deficient or of low quality. As a result, the minerals in the bone are not supported enough, which makes the bones weak and easy to break or crack, known as a fracture. There are different forms of the condition, from mild through to severe. People with mild forms may be minimally affected, while people with severe OI may experience many fractures throughout their lifetime, have misshapen bones, and require a wheelchair for mobility. The aims of multidisciplinary care and treatment include reduction in rate of fractures and complications, and optimisation of function and participation.

The OI Service at GOSH is one of four designated centres in England comprising the OI Highly Specialised Service for children and young people with Severe, Complex and Atypical OI. This service enables children and families to access high quality multi-specialty (neurosciences, endocrine, orthopaedic, radiology, clinical genetics, dentistry, occupational therapy, physiotherapy, nursing, psychology, social work), and multidisciplinary care nationally.

The clinical outcomes data published below are for this more significantly affected cohort of children, which comprise about one third of the total number of children and young people under the OI service at GOSH. All children within the OI service receive the same model of multidisciplinary care but may be seen less frequently if mildly affected.

Specific outcome measures were established nationally to measure the effectiveness of the Highly Specialised OI service, including:

1) Rate of Fracture

In OI, fractures can occur in any bone in the body, causing pain and in some cases residual bone deformity. Fractures can impact on day-to-day activities, school attendance and participation, movement and mobility until healing occurs.

2) Rate of progressive scoliosis

A proportion of children with OI develop curvature of the spine, known as scoliosis, which may change in shape with time and growth.

3) Rate of basilar invagination

This is a rare complication of OI that affects the alignment of the top of spine and base of the skull, which can lead to crowding of structures at the back of the brain and neurological symptoms.

With specialist multidisciplinary care, our aims are to reduce fracture risk, help rebuild compression fractures in the spine, and reduce rates of progressive scoliosis and basilar invagination over time through a combination of bone strengthening medicines, orthopaedic surgical interventions if needed, and the expertise and co-ordination of medical, therapy and nursing care.

Here, we provide our outcomes from the perspective of parents, carers (for patients aged under 12) and the young people themselves (aged 12 and over). This patient-reported outcome measure (PROM) gives us information about how our service assists with health-related knowledge and empowerment, and the effects of our care on daily living. Below is a selection of results for 2024/25.

Parents/carers (N=30):

1. In the last 12 months at school, has input from the OI team helped your child in any of the following areas?

Having OI often leads to challenges for children, young people and families with regards to safe and inclusive participation in school life. Throughout the year the OI therapy team (Physiotherapists and Occupational Therapists) work collaboratively with education providers to assess the environment, support risk assessments and problem solve to ensure children and young people can access all areas of the curriculum. The results in the chart above indicate parents feel the input provided to schools has helped their child in the educational environment and the therapy team continue to evaluate this service via survey questionnaires sent to education providers.

2. At your most recent visit to hospital or to clinic, did you have a discussion with a member of the OI team about:

The multidisciplinary team (MDT) clinic approach facilitates conversations around all aspects of the child or young person’s life, including physical health and emotional wellbeing. Support is further available from an OI Clinical Psychologist who can offer a space to talk about the condition and the impact it may have on everyday life, such as school, friendships and family relationships. During the year, groups are run to promote opportunities for parents and young people to meet and share their experiences, including baby/toddler groups and pain management groups.

3. Parent and carer communication and empowerment

4. In the last 12 months has a member of the OI team talked to you about:

5. In the last 12 months at school, has input from the OI team helped you in any of the following areas?

6. At your most recent visit to hospital or to clinic, did you have a discussion with a member of the OI team about:

As an OI team we incorporate tools to aid personalised goal setting and encourage children and young people to participate more actively in the MDT Clinic appointment. This includes use of CanChild’s F-Words Goal Sheet, which focuses on individual goals across six domains: Functioning, Family, Fitness, Fun, Friends and Future. This has received positive feedback from children and young people with OI and their families.

CanChild’s F-words Knowledge Hub.

7. Communication and empowerment

8. In the last 12 months has a member of the OI team talked to you about:

From the age of 12, the team begins to prepare young people and their carers for healthcare transition into adult services. To empower young people in the process, the Clinical Nurse Specialist (CNS) makes individualised time for young people, to support them in reflecting on their progress and health-related knowledge, emphasising self-advocacy and an increased sense of control to manage their own health.

At the final Paediatric OI Clinic appointment, young people are invited to complete an F-Words Goal Sheet and answer a Transition Key Question, which with their permission is shared with the OI Transition Team: “If you were meeting your OI Transition Team for the first time, what information about you would you like them to know?”

The OI Team has a well-established pathway for our young people to transition to adult services for ongoing care in adulthood. This includes a detailed handover to the adult team and a joint transition clinic. Paediatric allied health professionals meet with adult colleagues to hand over patients’ therapy needs in advance of clinic appointments. It is perhaps a learning point to note that not all patients are aware of the transition plan, though this may reflect a need for more young person-centred language as ‘transition’ may not be a phrase widely used or understood in this age group.

The Paediatric Osteogenesis Imperfecta National Team (POINT) has been developed as a national MDT of therapy, nursing, psychology, and social work professionals involved in the care of children and young people with OI. The current chair of POINT is the OI Clinical Specialist Physiotherapist at GOSH. The approach has been recognised by NHS England for its uniqueness and excellence in national collaborative MDT working for families with OI.

This information was published in November 2025.