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Research

Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence

A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome

Research

Expanding the clinical picture of the MECP2 Duplication syndrome

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

Research

Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study

Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers.

Research

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.

News & Events

Funding to support research into the impact of standing wheelchairs

The Kids researchers are investigating the physical and psychological impacts of powered standing wheelchairs for boys suffering from Duchenne

Research

Down Syndrome Clinical Trial- BTD-001

Helen Jenny Peter Leonard Downs Richmond MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Program Head, Development

Research

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08

Publications

The list of The Siblings Project publications

The Sibling Snapshot Project

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