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Authors: Congenital insensitivity to pain (CIP) is a very rare monogenic disorder characterised by the lifelong inability to perceive pain. Despite its severity, it remains underdiagnosed in paediatric populations, particularly among children with neurodevelopmental disorders. There are no published surveillance studies and the only comprehensive publication on management was produced by our group, without access to extensive patient data.
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Abstract

Background: Congenital insensitivity to pain (CIP) is a very rare monogenic disorder characterised by the lifelong inability to perceive pain.Despite its severity, it remains underdiagnosed in paediatric populations, particularly among children with neurodevelopmental disorders.There are no published surveillance studies and the only comprehensive publication on management was produced by our group, without access to extensive patient data.Methods: (1) A surveillance study was conducted via the British Paediatric Neurology Surveillance Unit (BPNSU) from April 2023 to July 2025.Clinical data on presentation were collected from general practitioners and electronic health records.(2) After analysis of the presentations, literature review and international discussion with professionals/ families, management guidelines were developed.Results: (1) Of 25 notified cases, 12 children with genetically confirmed CIP were included.Median age of symptom onset was 14 months.Key complications included early selfinjurious behaviours, notably tongue and lip biting, burn injuries, unexplained fractures, safeguarding referrals, recurrent osteomyelitis, corneal abrasions/dryness.All were referred for specialist genetic input.(2) Management to limit disability included surveillance of development, orthopaedic injury, radiology, ophthalmology, bladder and bowels.We identified who should review the children, where and frequency of the contact.We present a practical and pragmatic guideline.Conclusion: CIP presents early with subtle, but significant injury patterns.Early diagnosis and coordinated care are essential to prevent long-term disability and improve quality of life in affected children.Patients with CIP present unique challenges in emergency settings due to their inability to perceive pain.Management protocols must be tailored accordingly.

Fields of Study & Subjects

Epilepsy research and treatment Pharmacological Effects and Toxicity Studies Tuberous Sclerosis Complex Research

Publication details

Journal / source
Developmental Medicine & Child Neurology
Publisher
Wiley
Volume
68
Issue
S1
Pages
S7–S18
Publication date
1 January 2026
Language
EN