Development of the paediatric pain profile: role of video analysis and saliva cortisol in validating a tool to assess pain in children with severe neurological disability.

The Paediatric Pain Profile (PPP) is a 20-item behavior-rating scale designed to assess pain in children with severe to profound neurological impairment. Three raters independently used the PPP to rate behavior of 29 children (mean age 9.6, SD 5.8) filmed during everyday morning activities. The validation process included assessment of interrater reliability and exploration of the relationship of PPP scores with saliva cortisol concentration. There was substantial agreement between raters. The PPP showed strong association with global pain assessments and differentiated between preselected high- and low-pain groups. PPP score showed moderate correlation with saliva cortisol concentration, but a single child explained the strength of the relationship and overall, saliva cortisol concentrations appeared low. The data provide additional evidence that the PPP is a reliable and valid instrument for pain assessment in neurologically impaired children. Cortisol levels are not a useful criterion for pain in this population and further study of cortisol response to stress/pain in children with severe neurological impairments is needed.

Findings from a multidisciplinary clinical case series of females with Rett syndrome.

Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self-care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand-use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS.

Regression in individuals with Rett syndrome.

Data on features of regression and pre-regression developmental history in a case series of 53 girls and women with Rett syndrome are presented. Consistent with the diagnostic criteria, hand skills and verbal or non-verbal communication skills were the most common skills lost during regression. Play and motor skills were also lost in half the cases. Regression most commonly occurred between 12 and 18 months of age but was noted in a few cases before 6 months or after 36 months. Pre-regression developmental delays or abnormalities were noted in over two-thirds of cases, increasing to 85% of the youngest cases where parental reporting was likely to be more accurate. Age at regression was not associated with severity of physical and growth symptoms, and thus did not appear to be an index of neurological severity. There is a continuing need to further elucidate the pre- and post-regression features of Rett syndrome in order to aid early identification, diagnosis and referral for genotype mutation analysis.