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Showing results for "autism"

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Amy Finlay-Jones

Head, Early Neurodevelopment & Mental Health; Healthway WA Senior Research Fellow

Research

A Population-Based Matched-Sibling Analysis Estimating the Associations Between First Interpregnancy Interval and Birth Outcomes

Interpregnancy intervals of <6 months were associated with increased odds of preterm birth in second-born infants

Research

We examined the impact of introducing a dedicated team to OPAT, to define the role of increased medical oversight in improving patient outcomes in this cohort.

To evaluate the risk of stillbirth, PTB, and SGA as a proxy for FGR following exposure to one or more of these factors in a previous birth.

Research

How Alexithymia Increases Mental Health Symptoms in Adolescence: Longitudinal Evidence for the Mediating Role of Emotion Regulation

Alexithymia is characterised by difficulties identifying and describing feelings, as well as a lack of focus on feelings. Alexithymia is a transdiagnostic risk factor for developing a wide array of psychopathologies, such as anxiety and depression, with a key hypothesised mechanism being the impairing impact of alexithymia on emotion regulation competency. However, no study has tested whether difficulties with emotion regulation mediate the link between alexithymia and psychopathological symptoms using longitudinal designs.

Research

How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.

Research

Severity Assessment in CDKL5 Deficiency Disorder

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

Research

Building the repertoire of measures of walking in Rett syndrome

This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.

Research

Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences.

Research

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency

Research

The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.