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

Abstract

Background Rett Syndrome (RTT) is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a wide range of limitations in the quality of life of the patients with RTT. Comorbidities of patients with RTT are varied and cause a lot of pain, but communicating this suffering is difficult for these patients due to their problems, such as apraxia that does not allow them to express pain in a timely manner, and their difficulties with expressive language that also do not permit them to communicate. Two studies, a pilot study and a single case study, investigate the manifestation of pain of patients with RTT and propose a suitable scale to measure it. Aims of this study The first aim was to describe pain situations of RTT by collecting information by parents; the second aim was to test and compare existing questionnaires for non-communicating disorders on pain such as Pain assessment in advanced demenzia (PAINAD), the Critical care pain observation tool (CPOT) and the Non-communicating Children’s Pain Checklist-Revised (NCCPC-R) to assess which of them is best related to the pain behavior of patients with RTT. The third aim was to identify the specific verbal and non-verbal behaviors that characterize pain in girls with Rett syndrome, discriminating them from non-pain behaviors. Method Nineteen participants, eighteen girls with RTT and one girl with RTT with 27 manifestations of pain were video-recorded both in pain and base-line conditions. Two independent observers codified the 90 video-recording (36 and 54) to describe their behavioral characteristics. Results The two studies showed that the most significant pain behaviors expressed by girls with respect to the baseline condition, at the facial level were a wrinkled forehead, wide eyes, grinding, banging teeth, complaining, making sounds, crying and screaming, and the most common manifestations of the body were tremors, forward and backward movement of the torso, tension in the upper limbs, increased movement of the lower limbs and a sprawling movement affecting the whole body. Conclusion The results of the two studies helped to create an easy-to-apply scale that healthcare professionals can use to assess pain in patients with Rett’s syndrome. This scale used PAINAD as its basic structure, with some changes in the items related to the behavior of patients with RTT.

Caregiver Perspectives on Pain Sensitivity and Pain Experience in Rett Syndrome

“…27–30 Development of such systems is of critical importance to advancing equitable pain treatment for these populations, and evidence suggests that these approaches can differentiate episodes of known pain from non-pain periods. 29 Additional work is needed, however, to fully appreciate the degree to which behavioral signs reflect the actual pain experience of individuals with RTT. Although the current evidence suggests that individuals with RTT show fewer behavioral pain signs relative to other groups with and without neurodevelopmental disabilities, the source of this disparity remains unclear.…”

Evaluation Tools Developed for Rett Syndrome

“…This questionnaire was developed to assess the severity of the disorder in individuals with RTT by parents or caregivers. The tool has been used in previous studies [29][30][31][32][33][34][35][36][37] and as a basis for developing other assessment tools [38][39][40]. The structure of the RARS is based on the structure of similar tools, such as the Childhood Autism Rating Scale (CARS) [41], the Gilliam Autism Rating Scale (GARS) [42], and the Asperger Syndrome Diagnostic Scale (ASDS) [43], designed to assess the presence or absence of symptom characteristics similar to those presented by individuals with RTT [44].…”

Trofinetide receives FDA approval as first drug for Rett syndrome

“…Rett syndrome (RTT) is a neurodevelopmental illness affecting around 1 in every 10,000 live births, almost exclusively affecting females 1 . RTT’s key traits are aberrant linguistic and psychomotor growth (it refers to abnormal or deviating patterns of development in language skills and motor coordination, this deviation may manifest as atypical linguistic abilities and challenges in developing motor skills), autistic behaviors, erratic breathing, uneven walking, and hand wringing 2 .…”