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Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

Investigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder

Transition to adulthood for young people with intellectual disability: the experiences of their families

A number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency

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

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

Prevalence and determinants of sleep problems in Rett syndrome

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

Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence

A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome

Severity Assessment in CDKL5 Deficiency Disorder

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

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

Parent-observed thematic data on quality of life in children with autism spectrum disorder

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder