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Research

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.

Research

CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods.

Research

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk

People

Clinical Lead, Occupational Therapy

The ESDM aims to promote a child’s development across all domains, including language, joint attention, imitation, cognition, play and social skills, and fine and gross motor skills.

Learn more about the SenseVest Study at CliniKids

Research

Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.

Research

Quality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships

Research

Changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood

Research

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...