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Research

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.

Research

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.

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Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome

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Changes in caesarean delivery rates in Western Australia from 1995 to 2010 by gestational age at birth

The objective of this paper was to measure changes in caesarean delivery rates for primiparous women in Western Australia during 1995–2010 stratified by...

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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

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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

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It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndrome

The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome and to explore spirituality.

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Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked data

The aim of this study was to compare dental hospital admissions in a total state birth population of Indigenous and non-Indigenous children aged under five...

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To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of Wellbeing

The aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective.

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Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations