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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

An exploration of the use of eye gaze and gestures in females with rett syndrome

Eye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities

Propulsion strategy in the gait of primary school children; the effect of age and speed

Ankle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children

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

A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders

Explored Youth with Neuromuscular Disorders perceptions of health, health behaviors and healthcare engagement

The Western Australian family connections genealogical project: Detection of familial occurrences of single gene and chromosomal Disorders

This study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.

Relationship between family quality of life and day occupations of young people with Down syndrome

This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.

Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.

Perspectives on hand function in girls and women with Rett syndrome

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.