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

Abstract

Purpose 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). Design/methodology/approach 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. Findings 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. Originality/value 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.

Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale

“…Many conditions are particularly painful, such as low bone density. In these individuals, the risk of fractures and microfractures is three to four times greater than in typical individuals [ 13 , 16 – 18 ], particularly in the vertebrae and in the femur, thus causing considerable pain. Contractures of the ankle, knees, hip/trunk, elbows and wrist joints have also been reported [ 19 – 24 ].…”

“…Indeed, during apnea at rest and, less frequently, in hyperventilation, air may be ingested, leading to abdominal swelling, which, in some cases, can lead to gastric perforations and peritonitis [ 16 , 39 ]. Orally, one of the conditions that causes pain is bruxism, which can eventually lead to tooth wear, fractures, a series of muscle pains in the jaw, and temporomandibular disorders [ 16 , 40 – 42 ]. Long-term sucking or biting of the fingers can also lead to mandibular alterations that lead to increased pain [ 16 , 40 ].…”

“…Long-term sucking or biting of the fingers can also lead to mandibular alterations that lead to increased pain [ 16 , 40 ]. Problems related to the digestive system, such as reflux and esophagitis, are also frequent, and the associated pains worsen or change when lying down [ 16 , 43 ]. Constipation can also cause pain both in the abdominal area and during the passage of stool [ 16 , 44 ].…”

“…All these scales are generic and do not take the typical characteristics of RTT into account. Patients with Rett syndrome try to communicate their suffering through various behaviors, such as clapping, laughing, delayed pain response, grinding of teeth, sticking out the tongue, moving the body in a specific way, jumping, shaking, self-harming, but also grimacing, vocalizing, moaning, whimpering, screaming, and saying a specific sound or word [ 15 , 16 , 38 , 59 ]. The behaviors displayed by subjects with RTT make pain measurement and assessment problematic, especially for healthcare professionals, doctors and nurses who must understand the nature of pain to prescribe and administer drugs.…”

Preliminary Evidence That Resting State Heart Rate Variability Predicts Reactivity to Tactile Stimuli in Rett Syndrome

“…1 The MeCP2 protein is involved in multiple sensory and nociceptive processes, but specifically how alterations in MeCP2 expression affect pain experience/perception in Rett syndrome is unclear. 2 Available evidence from preclinical investigations suggests reflexive pain circuitry is intact but that higherorder discriminatory behavior may be impaired (although motor confounds in the behavioral assays may limit their interpretability). 3 Decreased sensitivity to pain is among the current supporting diagnostic criteria and reported in previous descriptions of Rett syndrome.…”