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Family satisfaction following spinal fusion in Rett syndrome

Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...

The triple challenges associated with age-related comorbidities in Down syndrome

Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring...

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...

Leisure participation for school-aged children with Down syndrome

Leisure participation for school-aged children with Down syndrome.

Community participation: Conversations with parent-Carers of young women with Rett syndrome

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

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.

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.

Influence of the environment on participation in social roles for young adults with down syndrome

The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...

Expanding the clinical picture of the MECP2 Duplication syndrome

Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome