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Family satisfaction following spinal fusion in Rett syndrome: a cohort study

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

Research

Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis

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How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework

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Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

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

Research

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome

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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Hip displacement and scoliosis in Rett syndrome - screening is required

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

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Physical and mental health of mothers caring for a child with Rett syndrome

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Research

Enablers and barriers in dental attendance in Rett syndrome: an international observational study

Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety.

Research

Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome

People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities.

Research

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

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