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Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Nurturing families: One year pilot outcomes for a modified Parent Child Assistance Program in Australia

Alcohol and Other Drug (AOD) exposure during pregnancy is linked to serious adverse child outcomes, including Fetal Alcohol Spectrum Disorder. The Parent-Child Assistance Program (PCAP) supports women with problematic AOD use, who are pregnant or have young children, and are not effectively engaging with services. PCAP has been shown to reduce alcohol exposed pregnancies, promote AOD abstinence, increase employment and family planning and improve child outcomes.

A systematic review of the biological, social, and environmental determinants of intellectual disability in children and adolescents

This systematic review aimed to identify the most important social, environmental, biological, and/or genetic risk factors for intellectual disability.

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database.

Enabling successful life engagement in young people with ADHD: new components beyond adult models of recovery

To examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals.

Devising a Missing Data Rule for a Quality of Life Questionnaire - A Simulation Study

The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation.

Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

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.