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Research

Towards evidence based care for Rett syndrome: a research model to inform management of rare disorders

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

Research

Monitoring child abuse and neglect at a population level: patterns of hospital admissions for maltreatment and assault

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

Research

Unpacking the complex nature of the autism epidemic

This paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences.

Research

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

Research

Siblings of children with disabilities: challenges and opportunities

Siblings of children with disabilities: challenges and opportunities

Research

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

People

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.