Project start date: 01-Apr-2023 Project end date: 30-Jun-2026

Congenital Insensitivity to Pain - Epidemiology and Management

Case Definitions: There are no consensus clinical diagnostic criteria for CIP. A diagnosis requires a supporting medical history of behaviours / injuries and response to injuries, visible proof of lack of nociception in a conscious individual of normal intellectual ability. Diagnosis is more difficult before 3 years and when a child cannot communicate fully. In those with intellectual disability CIP may be more difficult to diagnose clinically

Age range for cases: Patients aged one month to 18 years

Investigators and Contact Details:

Dr Alasdair Parker - Consultant paediatric neurologist
alasdair.parker@nhs.net
Box 107, Addenbrooke’s Hospital, Cambridge CB2 0QQ Professor

Geoff Woods - Honorary Consultant in Medical Genetics
cw347@cam.ac.uk
Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge CB2 0QQ

Inclusion Criteria:

Medical history of behaviours / injuries and response to injuries, visible proof of lack of nociception in a conscious individual

And

Self-mutilation and / or injuries to lips and/ or digits or permanent joint deformity Or Disease causing variant (s) in known CIP genes SCN9a, SCN11a, PRDM12, NTRK1, CLTCL1, NGF and ZFHX2

Exclusion Criteria:

Patients who have a raised threshold to pain sensation, but which can be explained by a coexisting underlying neurological disorder e.g., autism, confirmed other hereditary/sensory/autonomic neuropathy

No Self-mutilation and injuries to lips and/ or digits or permanent joint deformity

Confirmed diagnosis of other neurological disease not causing congenital insensitivity to pain

Additional Information: Additional Investigators Dr Lipi Shekhar - Grid Trainee - Paediatric Neurology lipi.shekhar@nhs.net

Outcomes: TBC