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Research

Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.

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.

Research

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.

Research

Experience of gastrostomy using a quality care framework: The example of rett syndrome

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

Research

The trajectories of sleep disturbances in Rett syndrome

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...

Research

Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains.

Research

The correlation between central and peripheral oxytocin concentrations: A systematic review and meta-analysis

These results indicate a coordination of central and peripheral oxytocin release after stress and after intranasal administration

Research

Down syndrome studies; the transition from secondary school to adulthood: Experiences and life outcomes for youth with an intellectual disability and their families

Helen Jenny Keely Leonard Downs Bebbington MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Head, Child Disability

Research

Intellectual disability: Population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy

The aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children.

Learning to cope with uncertainty

A small group program to help parents tackle anxiety in young children diagnosed with autism has found significant improvements in both children’s anxiety and parental mental health and wellbeing.