Clinical and genetic correlations of scoliosis in Rett syndrome.

AIM: To identify the clinical features correlating with the presence and severity of scoliosis in girls with Rett syndrome (RTT). METHOD: Seventy-five girls with a clinical and genetically determined diagnosis of RTT participated in this cross-sectional study. Clinical scales administered included the Rett assessment rating scale, the modified Ashworth scale, the Rett syndrome motor evaluation scale, the PainAD, and the scale of evaluation of purposeful hand function. Multivariable analyses, such as ordinal logistic regression and ANCOVA, were used to assess the correlation between these scales and a clinical score of scoliosis. RESULTS: About 60% of patients had scoliosis, in general mild or moderate. The severity of scoliosis correlated with age and important neurological factors such as muscular hypertonus and hyperreflexia, standing, walking (level walking and on stairs), and postural transitions. No association was found with global disease severity, hand function, pain, or type of genetic mutation. INTERPRETATION: Scoliosis is a relevant problem in RTT. It should be carefully monitored along the life span, especially in conjunction with (loco-)motor impairment in these patients.

[Chronic diseases in neuromotor rehabilitation medicine.] / Le malattie croniche in medicina riabilitativa neuromotoria.

OBJECTIVES: Chronic diseases are a major problem, whose importance is nowadays raising up. Up to 86% of deaths are directly related to chronic diseases in Europe as they represent large amount of total diseases, with a major impact on global health spending. METHODS: Patients suffering from heterogeneous disabilities (such as Parkinson's disease, stroke, multiple sclerosis, osteoporosis, osteoarthritis) often show an interaction between the main disease and comorbidity and multimorbidity. RESULTS: Therefore, the complicate interaction between all these ailments must be faced following specific care pathways. Within the latter ones, pharmacological, physical/cognitive and other (surgical and non-surgical) treatments should be reconciled in order to produce a synergic effect to counteract patient's clinical problems. CONCLUSIONS: Finally, neuromotor rehabilitation medicine should not only be considered as a step following the acute phase but also as an effective tool of secondary and tertiary prevention aimed to avoid relapses and re-hospitalization as well as to improve patient's quality of life.