Pain in Rett syndrome: peculiarities in pain processing and expression, liability to pain causing disorders and diseases, and specific aspects of pain assessment

Diagnosing pain and pain inflicting diseases are crucial issues in the health care of individuals with intellectual and developmental disabilities. The purpose of this paper is to delineate possible peculiarities in pain perception, characterizing a syndrome-specific spectrum of pain causing diseases as well as particular features of pain expression in Rett syndrome (RTT).

A selective review of the literature on pain, dolorous disorders and diseases, molecular aspects of pain transduction, pain perception, and expression of painful conditions in RTT was undertaken.

RTT causing mutations in the methyl-CpG-binding protein 2 (MECP2) have an impact on various endogenous molecules modulating pain transmission. Individuals with RTT are specifically prone to numerous pathological states which can cause pain. By thorough observation/application of proper tools, it is possible to recognize painful states in persons with RTT.

This paper imparts empirical/evidence-based data on pain perception/transmission, possible syndrome-specific causes of pain and pain expression/assessment in RTT, with the objective of promoting the quality of clinical practice in this crucial issue.