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We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.

We wanted to find out whether mothers with a child with Rett syndrome who were more physically and mentally healthy had particular characteristics.

This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.

Research

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.

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This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...

Research

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.

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This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

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This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.

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There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

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The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management