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Measurement of Sedentary Behaviors or "downtime" in Rett Syndrome

This study aimed to validate measures of sedentary time in individuals with Rett syndrome.

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.

A qualitative investigation of recovery after femoral fracture in Rett syndrome

This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.

Functional abilities in children and adults with the CDKL5 disorder

Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities

Health care utilization and costs for children and adults with duchenne muscular dystrophy

The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood

Professor Jenny Downs

Head, Child Disability

Dr Emma Glasson

Senior Research Fellow

Variation over time in medical conditions and health service utilization of children with Down syndrome

Variation over time in medical conditions and health service utilization of children with Down syndrome.

Increased longevity and the comorbidities associated with intellectual and developmental disability

The contributors, all world experts in their fields, also discuss what we can learn from the presence of co-morbidities.

Overview of health issues in school-aged children with Down Syndrome

Overview of Health Issues in School-aged Children with Down Syndrome