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The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

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.

Leisure participation for school-aged children with Down syndrome.

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...

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

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

Prevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods...

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic...

It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing...

To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children