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Research

Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.

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Oral health education and promotion in special needs children: Systematic review and meta-analysis

To review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions.

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Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability

Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI

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Prevalence of Motor Difficulties in Autism Spectrum Disorder: Analysis of a Population-Based Cohort

In this population-based cohort that included 2,084 children with autism aged ≤6 years, over one-third met the criteria for motor difficulties

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Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome

The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome

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Systematic Review and Meta-analysis: Mental Health in Children

The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents

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Establishing a national platform for the provision of evidence based practice in Prader-Willi syndrome

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Research

International Rett syndrome study: InterRett

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Research

Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency Disorder

Helen Jenny Peter Leonard Downs Jacoby MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Head, Child Disability

Research

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.