Skip to content
The Kids Research Institute Australia logo
Donate

No results yet

Search

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

Severe Congenital Heart Defects and Cerebral Palsy

To report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP.

Research

Fetal alcohol spectrum disorder and Aboriginal and Torres Strait Islander men: A discussion to be had

Fetal alcohol spectrum disorder (FASD) is a lifelong disability of varying severity that occurs among individuals prenatally exposed to alcohol. Among Aboriginal and Torres Strait Islander (Indigenous) Australians, the effects of colonisation and ongoing racism could increase the risk of alcohol consumption during pregnancy.

Research

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.

Research

Propulsion strategy in the gait of primary school children; the effect of age and speed

Ankle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children

Research

Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience...

Research

Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia

To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.

Research

Awake and Alert: Examining the Portrayal of Energy Drinks on TikTok

Energy drinks (EDs) are not recommended for minors' consumption due to a myriad of health risks, but marketing initiatives persist. This study explored the promotion of EDs on TikTok, a platform frequented by children and adolescents.

Research

An exploratory study on the role of criminogenic risk factors and informant-rated everyday executive functioning in predicting the age of offending onset in young people with FASD

Fetal Alcohol Spectrum Disorder (FASD) is characterised by a range of neurodevelopmental deficits that may increase risks of justice system involvement. Improving our understanding of criminogenic risk factors and particularly the role of informant-rated executive functioning (EF) in predicting the age of offending onset in this clinical population may reduce recidivism and help inform targeted interventions.

Research

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.