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Research

Determinants of quality of life in Rett syndrome: New findings on associations with genotype

Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.

Research

Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study

Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life.

Research

Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals

This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome

Research

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome

Research

Oral health experiences of individuals with Rett syndrome: A retrospective study

Social advantage may provide some protection for dental health in individuals with Rett syndrome

Research

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome

Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear

Research

Respiratory morbidity in Rett syndrome: An observational study

Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization

Research

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome

Research

Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trial

We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.

Research

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

We aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristitics.