Title : An orthopaedic surveillance guide for congenital insensitivity to pain
Abstract:
Introduction: Congenital Insensitivity to Pain (CIP) is an ultra-rare monogenic disorder with lifelong inability to sense pain. There is a paucity of literature on the presentation, surveillance, and management of CIP. An aim of this work was to determine the common orthopaedic complications of CIP, develop a surveillance guide, and evaluate this through survey of paediatric orthopaedic surgeons.
Methods: Ethics approval was obtained from the NHS Health Research Authority in 10/2022. The British Paediatric Neurology Surveillance Unit (BPNSU) facilitated a multi-centre surveillance study 04/2023-08/2025. Patients aged 1 month-18 years with a history consistent with CIP and no co-existing neurological disorder were included. English language patient information sheets and assent/consent forms were sent to families. Clinical data were obtained through General Practitioners and electronic health records. This was supplemented with a systematic review through PubMed, Google Scholar, OVID and EBSCO using keywords “congenital insensitivity to pain”, followed by title/abstract and full text screening and narrative synthesis. The findings were presented at the First International Conference on Congenital Insensitivity to Pain 10/10/2025. One component involved paediatric orthopaedic surgeons and affected families informing development of an orthopaedic surveillance guide, subsequently evaluated by paediatric orthopaedic surgeons at the British Society for Children’s Orthopaedic Surgery Annual Meeting 2026.
Results: 25 case notifications were received by BPNSU; one did not have CIP, nine did not respond, three declined, and clinical data was successfully collected for 12. Children with CIP are susceptible to fractures, joint subluxation, avascular necrosis, septic arthritis, osteomyelitis, and Charcot joints. The surveillance guide aims to mitigate these risks. Below is the guide and evaluation results. We received 81 responses with 98% being paediatric orthopaedic surgeons.
1) ‘Children with CIP should be reviewed by an orthopaedic specialist six months after starting to walk and have X-rays of hips, ankles, knees and spine’, 33% were unsure. Of those responding, 72% agreed.
2) ‘Children with CIP may have orthopaedic damage only identifiable on imaging’, 17% were unsure. Of those responding, 67% agreed.
3) ‘Before age six, children with CIP should have X-rays of hips, ankles, knees and spine every 18-24 months as a minimum’, 40% were unsure. Of those responding 78% agreed.
4) ‘After age six, follow up could be undertaken every three years at minimum’, 41% again were unsure. Of those responding, 96% agreed.
5) ‘Is there any other orthopaedic surveillance you recommend?’, 57% were unsure and 11 respondents offered free text suggestions. Key points included considering Electronic Optical Scanning, DEXA scanning, range of motion assessments, and extending surveillance to the upper limb.
6) 70% of respondents did not know who in the Multi Disciplinary Team (MDT) to contact to manage children with CIP.
Conclusions: Children with CIP should have orthopaedic review and x-rays of spine, hips, knee and ankles six months after they start walking and then at least every 18 to 24 months through until the age of six years. It could then be reduced to every three years, in the absence of bony injury. They should be integrated with an MDT.
