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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.

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BACKGROUND: Although lives of parents of girls with Rett syndrome (RTT) are centred on the process of care, in the current literature their perceived levels of stress have been rarely investigated. METHODS: We analysed levels of stress in a sample of 79 fathers and mothers parenting girls with RTT, who were required to compile the Parenting Stress Index (PSI) questionnaire. RESULTS: We found clinical levels of stress in about 39% of fathers, as compared with 44% of the mothers. Severity of RTT, but not other factors such as the genetic domain, presence of epilepsy or scoliosis, predicted Total Stress scores in both fathers' subsample and mothers' subsample. A cumulative effect of caring, that is association of higher levels of stress with longer process of care, did also emerge from estimation of smoothing splines. CONCLUSIONS: Fathers' resources should be taken more into account, especially in the rehabilitation and socialization process of adults with RTT.

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BACKGROUND: We aim to describe and psychometrically validate the Rett Syndrome Motor Evaluation Scale, a 25-item ordinal scale examining (loco-)motor function across six sections: standing, sitting, transitions, walking, running, and walking up or downstairs. METHODS: We illustrate the process of item construction and validation, report findings and normative data obtained on a standardization sample of 60 patients with Rett syndrome. We investigate the validity and reliability of the scale and illustrate its psychometric properties using modern multivariate techniques of data analysis. RESULTS: Sixty patients with Rett syndrome were included (all female; mean age 12.45 (S.D. 8.75) years). The multidimensional latent structure of the scale was supported by the results of the confirmatory factor analysis. Rett Syndrome Motor Evaluation Scale showed strong internal consistency reliability as well as excellent inter-rater agreement. The Rett Syndrome Motor Evaluation Scale scores were not predicted by age, but were associated with disease severity, degree of spasticity, and hand dysfunction. We also identified three latent classes with different degrees of impairment. CONCLUSIONS: Rett Syndrome Motor Evaluation Scale is a new, valid, and reliable scale that can be introduced in clinical practice when assessing (loco-)motor function in Rett syndrome.

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BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder, implying impairment and disability across several domains. METHOD: We investigated parents' perception of the caregiving process in a sample of 55 mothers and fathers of girls with RTT using the MPOC-20 questionnaire. The association of parents' satisfaction with clinical variables has also been explored. RESULTS: We obtained intermediate levels of satisfaction on the MPOC-20 Coordinated and Comprehensive Care and Respectful and Supportive Care scales. The performance was lower on the scales Providing General Information and Providing Specific Information. Mothers' assessment was not associated with clinical variables such as walking disability, presence of scoliosis, or epilepsy. For children with greater degree of walking impairment, fathers expressed the need of having more information available. CONCLUSIONS: Although parents seemed satisfied of the caregiving process, clinicians should put more emphasis on their need of receiving general and specific information on RTT along the entire rehabilitation program.

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AIM: To describe a new clinical tool, the Rett Syndrome Motor Evaluation Scale (RESMES) and to assess (loco-)motor function in people with Rett syndrome (RTT). METHOD: Formal assessment provided by physicians was followed by parents' direct observation at home using the RESMES. Sixty females (mean [SD] age 12y 5mo [8y 9mo], range 3-40y) with a clinical diagnosis and genetically determined RTT participated in the study. Spearman's/Pearson's coefficients assessed the correlation between the clinicians' and caregivers' evaluations, as well as the correlation of RESMES scores with other scales, namely the Pain Assessment in Advanced Dementia, the Rett Assessment Rating Scale, the Modified Ashworth Scale, and hand function (assessed with a scale of evaluation of purposeful hand function). Scores provided by parents and clinicians were tested statistically by Mann-Whitney U test. RESULTS: Approximately 88% of patients had moderate to severe RTT symptoms and, on average, moderate motor impairment based on the RESMES. RESMES total scores provided by clinicians and caregivers were highly correlated (r=0.91), as were the subscale scores. Postural transition was a critical area of the RESMES, where parents systematically provided lower scores than clinicians, indicating milder degrees of disability. Severity of scoliosis and mutation type emerged as significant predictors of motor function. INTERPRETATION: The RESMES characterized the (loco-)motor impairments of the patients with RTT well. It also showed a close correlation between the evaluations of clinicians and caregivers, with the possible exception of postural transition tasks, which should be carefully addressed in a clinical setting. The type of mutation and presence of scoliosis should be evaluated, as they predicted the ability to walk. WHAT THIS PAPER ADDS: Caregivers at home can reliably assess motor function in Rett syndrome using the Rett Syndrome Motor Evaluation Scale (RESMES). RESMES scores provided by clinicians and parents were highly correlated. The severity of scoliosis and the genetic mutation predicted standing and walking abilities.

FUNCIÓN MOTORA EN EL SÍNDROME DE RETT: COMPARACIÓN DE EVALUACIONES CLÍNICAS Y PARENTALES: OBJETIVO: Describir una nueva herramienta clínica, la Escala de Evaluación Motora del Síndrome de Rett (RESMES) y evaluar la función motora (locomotora) en personas con síndrome. de Rett (RTT). METODO: La evaluación formal proporcionada por los médicos fue seguida por la observación directa de los padres en el hogar utilizando los RESMES. Sesenta mujeres (edad media 12 años 5 meses[DS =8 años 9 meses], rango 3-40 años) con diagnóstico clínico y genético de RTT participaron en el estudio. Los coeficientes de Spearman / Pearson evaluaron la correlación entre las evaluaciones de los médicos y los cuidadores, así como la correlación de las puntuaciones de RESMES con otras escalas, como la Evaluación del Dolor en la Demencia Avanzada (Pain Assessment in Advanced Dementia), la Escala de Calificación de la Evaluación de Rett (Rett Assessment Rating Scale), la Escala de Ashworth modificada y la función de la mano (evaluado con una escala de evaluación de la función voluntaria de la mano). Las puntuaciones proporcionadas por los padres y los clínicos se evaluaron estadísticamente mediante la prueba U de Mann-Whitney. RESULTADOS: Aproximadamente el 88% de los pacientes tenían síntomas de RTT de moderados a severos y, en promedio, una discapacidad motora moderada basada en los puntajes de RESMES. Se encontró una correlación muy alta (r = 0,91) entre los puntajes totales de RESMES proporcionados por los médicos y cuidadores, al igual que los puntajes con las otras escalas. La transición postural fue un área crítica de RESMES, donde los padres proporcionaron sistemáticamente puntuaciones más bajas que los clínicos, lo que indica grados más leves de discapacidad. La gravedad de la escoliosis y el tipo de mutación fueron factores significativamente predictivos de la función motora. INTERPRETACIÓN: Los puntajes de RESMES caracterizaron bien las alteraciones motoras de las pacientes con RTT. Se encontró una estrecha correlación entre las evaluaciones de los médicos y los cuidadores, con la posible excepción de los cambios postural, que deben evaluarse con cuidado en un entorno clínico. Se debe considerar el tipo de mutación y la presencia de escoliosis, ya que predijeron la capacidad de caminar.

FUNÇÃO MOTORA NA SÍNDROME DE RETT: COMPARANDO AVALIAÇÕES CLÍNICAS E DOS PAIS: OBJETIVO: Descrever uma nova ferramenta clínica, a Escala de avaliação motora da síndrome de Rett (RESMES) e avaliar a função (loco)motora em pessoas com síndrome de Rett (RTT). MÉTODO: A avaliação formal por médicos foi seguida por observação direta dos pais em casa usando a RESMES. Sessenta meninas (média [DP] idade 12a 5m [8a 9m], variação 3-40a) com diagnóstico clínico e RTT determinada geneticamente participaram no estudo. Coeficientes de Spearman/Pearson avaliaram a correlação entre avaliações dos clínicos e cuidadores, assim como as correlações dos escores na RESMES com outras escalas: Avaliação da Dor na Demência avançada (Pain Assessment in Advanced Dementia), Escala de Classificação de Rett (Rett Assessment Rating Scale), a Escala de Ashworth Modificada, e função manual (avaliada com uma escala de avaliação da função manual voluntária). Os escores fornecidos pelos pais e clínicos foram testados estatisticamente com o teste de Mann-Whitney U. RESULTADOS: Aproximadamente 88% dos pacientes tinham sintomas de RTT de moderados a severos e, em média, comprometimento motor moderado na RESMES. Os escores totais da RESMES dados pelos clínicos e cuidadores foram altamente correlacionados (r=0,91), assim como os escores das subescalas. Transição postural foi uma área crítica da RESMES, em que pais sistematicamente ponturam mais baixo que os clínicos, indicando graus mais leves de incapacidade. A severidade da escoliose e tipo de mutação emergiram como preditores significativos da função motora. INTERPRETAÇÃO: A RESMES caracterizou bem as deficiências (loco) motoras de pacientes com RTT. Também mostrou correlação próxima entre as avaliações de clínicos e cuidadores, com a possível exceção das tarefas de transição postural, as quais devem ser cuidadosamente abordadas no contexto clínico. O tipo de mutação e presença de escoliose devem ser avaliados, pois predizem a capacidade de andar.

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