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Showing results for "rett"

Research

Parental experiences of scoliosis management in Rett syndrome

Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...

Research

Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related Factors

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.

Research

Linking MECP2 and pain sensitivity: the example of Rett syndrome

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.

Research

Rett syndrome in Australia: a review of the epidemiology

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Research

Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Research

Feeding experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

Feeding experiences and growth status in a Rett syndrome population

We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.

Research

Measurement of Sedentary Behaviors or "downtime" in Rett Syndrome

This study aimed to validate measures of sedentary time in individuals with Rett syndrome.

Research

Community participation for girls and women living with Rett syndrome

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.

Research

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).