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Dr Emma Glasson

Senior Research Fellow

Professor Jenny Downs

Head, Child Disability

Jess Keeley

Within the Child Disability Team Jess has contributed to research that aims to improve understanding and measurement of the communication of people with CDKL5 Deficiency Disorder (CDD) by conducting and analysing interviews with families.

Kate Dorozenko

Senior Research Officer

Melissa Cleary

PhD Candidate

Carolyn Drummond

Research Officer

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.

Effect of single versus multistrain probiotic in extremely preterm infants: a randomised trial

Evidence indicates that multistrain probiotics benefit preterm infants more than single-strain (SS) probiotics. We assessed the effects of SS versus triple-strain (TS) probiotic supplementation (PS) in extremely preterm (EP) infants.

Modifiable child and caregiver factors that influence community participation among children with Down syndrome

To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.