Search
We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.
Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome
The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability.
Bone mass and density are low in females with Rett syndrome.
We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.
To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.
Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families
There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care.
This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome
A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome
Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.
This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...
Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT.
This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...
This study aimed to validate measures of sedentary time in individuals 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.
This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.
This study aimed to describe overall survival and adult health in those with Rett syndrome.
There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.